Difference between revisions of "Lab Journal - Task 7 (PAH)"

From Bioinformatikpedia
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=== Mutation Map===
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===Mutation Map===
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{|border=1
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|-
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|rs62514891||1||A>G||Met1Val||OMIM/dbSNP
  +
|-
  +
|CM000541||2||T>G||Met1Arg||HGMD
  +
|-
  +
|rs62514893||3||G>A||Met1Ile||OMIM/dbSNP
  +
|-
  +
|CM010947||46||T>C||Ser16Pro||HGMD
  +
|-
  +
|CM000542||59||A>T||Gln20Leu||HGMD
  +
|-
  +
|HM972014||65||C>A||Thr22Lys||HGMD
  +
|-
  +
|rs62642926||117||C>G||Phe39Leu||OMIM/dbSNP
  +
|-
  +
|CM961063||119||C>T||Ser40Leu||HGMD
  +
|-
  +
|rs74603784||136||G>A||Gly46Ser||OMIM/dbSNP
  +
|-
  +
|CM993577||140||C>A||Ala47Glu||HGMD
  +
|-
  +
|rs5030841||143||T>C||Leu48Ser||OMIM/dbSNP
  +
|-
  +
|CM981427||158||G>A||Arg53His||HGMD
  +
|-
  +
|CM024619||181||A>G||Asn61Asp||HGMD
  +
|-
  +
|rs75193786||194||T>C||Ile65Thr||OMIM/dbSNP
  +
|-
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|CM981429||208||T>C||Ser70Pro||HGMD
  +
|-
  +
|CM961066||250||G>T||Asp84Tyr||HGMD
  +
|-
  +
|CM981431||281||T>G||Ile94Ser||HGMD
  +
|-
  +
|CM992944||299||A>G||His100Arg||HGMD
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|-
  +
|CM045080||307||G>A||Gly103Ser||HGMD
  +
|-
  +
|CM010951||329||C>T||Ser110Leu||HGMD
  +
|-
  +
|rs76296470||331||C>T||Arg111Ter||OMIM/dbSNP
  +
|-
  +
|CM971124||365||C>A||Pro122Gln||HGMD
  +
|-
  +
|rs199475681||368||G>T||Arg123Ile||dbSNP
  +
|-
  +
|CM010952||385||G>T||Asp129Tyr||HGMD
  +
|-
  +
|CM981432||395||C>T||Ala132Val||HGMD
  +
|-
  +
|CM961070||434||A>T||Asp145Val||HGMD
  +
|-
  +
|CM056668||470||G>T||Arg157Ile||HGMD
  +
|-
  +
|rs5030843||473||G>A||Arg158Gln||OMIM/dbSNP
  +
|-
  +
|CM992371||506||G>A||Arg169His||HGMD
  +
|-
  +
|CM011946||508||C>G||His170Asp||HGMD
  +
|-
  +
|rs192592111||516||G>T||Gln172His||dbSNP
  +
|-
  +
|CM981435||561||G>C||Trp187Cys||HGMD|-
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|
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|-
  +
|CM950887||581||T>C||Leu194Pro||HGMD
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|-
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|CM981438||608||G>A||Cys203Tyr||HGMD
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|-
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|rs62514927||611||A>G||Tyr204Cys||OMIM/dbSNP
  +
|-
  +
|CM010961||648||C>G||Tyr216Term||HGMD
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|-
  +
|rs62514934||662||A>G||Glu221Gly||OMIM/dbSNP
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|-
  +
|CM971131||673||C>A||Pro225Thr||HGMD
  +
|-
  +
|CM034744||716||G>A||Gly239Asp||HGMD
  +
|-
  +
|rs5030846||727||C>T||Arg243Ter||OMIM/dbSNP
  +
|-
  +
|rs62508588||728||G>A||Arg243Gln||OMIM/dbSNP
  +
|-
  +
|rs118203923||731||C>T||Pro244Leu||OMIM/dbSNP
  +
|-
  +
|CM920550||731||C>T||Pro244Leu||HGMD
  +
|-
  +
|rs5030847||754||C>T||Arg252Trp||OMIM/dbSNP
  +
|-
  +
|CM920553||763||T>G||Leu255Val||HGMD
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|-
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|rs62642930||764||T>C||Leu255Ser||OMIM/dbSNP
  +
|-
  +
|rs118203921||776||C>T||Ala259Val||OMIM/dbSNP
  +
|-
  +
|CM910286||776||C>T||Ala259Val||HGMD
  +
|-
  +
|rs5030850||781||C>T||Arg261Ter||OMIM/dbSNP
  +
|-
  +
|rs5030849||782||G>A||Arg261Gln||OMIM/dbSNP
  +
|-
  +
|CM981442||794||G>A||Cys265Tyr||HGMD
  +
|-
  +
|rs62508752||796||A>C||Thr266Ala||dbSNP
  +
|-
  +
|CM081725||813||T>G||His271Gln||HGMD
  +
|-
  +
|rs62514952||814||G>T||Gly272Ter||OMIM/dbSNP
  +
|-
  +
|rs62514953||818||C>T||Ser273Phe||OMIM/dbSNP
  +
|-
  +
|CM034745||827||T>G||Met276Arg||HGMD
  +
|-
  +
|rs78655458||829||T>G||Tyr277Asp||OMIM/dbSNP
  +
|-
  +
|rs62508698||838||G>A||Glu280Lys||OMIM/dbSNP
  +
|-
  +
|CM992948||841||C>T||Pro281Ser||HGMD
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|-
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|rs5030851||842||C>T||Pro281Leu||OMIM/dbSNP
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|-
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|CM055475||869||A>G||His290Arg||HGMD
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|-
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|rs62642933||896||T>G||Phe299Cys||OMIM/dbSNP
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|-
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|CM015134||922||C>T||Leu308Phe||HGMD
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|-
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|rs62642936||932||T>C||Leu311Pro||OMIM/dbSNP
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|-
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|CM024623||940||C>T||Pro314Ser||HGMD
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|-
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|rs62514959||977||G>A||Trp326Ter||OMIM/dbSNP
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|-
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|CM990999||981||T>G||Phe327Leu||HGMD
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|-
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|CM961082||992||T>G||Phe331Cys||HGMD
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|-
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|CM043317||1007||A>G||Gln336Arg||HGMD
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|-
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|CM010981||1022||A>C||Lys341Thr||HGMD
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|-
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|CM000550||1031||G>T||Gly344Val||HGMD
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|-
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|rs62508646||1045||T>C||Ser349Pro||OMIM/dbSNP
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|-
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|CM981453||1048||T>A||Ser350Thr||HGMD
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|-
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|rs62516095||1068||C>G||Tyr356Ter||OMIM/dbSNP
  +
|-
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|CM101146||1071||C>A||Cys357Term||HGMD
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|-
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|rs5030854||1076||C>G||Ser359Ter||OMIM/dbSNP
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|-
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|CM068054||1089||G>T||Lys363Asn||HGMD
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|-
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|CM010984||1130||A>G||Tyr377Cys||HGMD
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|-
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|CM950896||1157||A>G||Tyr386Cys||HGMD
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|-
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|rs62516101||1162||G>A||Val388Met||OMIM/dbSNP
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|-
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|rs5030856||1169||A>G||Glu390Gly||OMIM/dbSNP
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|-
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|rs199475695||1175||T>C||Phe392Ser||dbSNP
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|-
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|CM043319||1184||C>A||Ala395Asp||HGMD
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|-
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|CM030921||1204||T>C||Phe402Leu||HGMD
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|-
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|rs62644473||1220||C>T||Pro407Leu||OMIM/dbSNP
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|-
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|rs5030858||1222||C>T||Arg408Trp||dbSNP
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|-
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|rs5030859||1223||G>A||Arg408Gln||OMIM/dbSNP
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|-
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|rs79931499||1238||G>C||Arg413Pro||OMIM/dbSNP
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|-
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|CM101145||1242||C>A||Tyr414Term||HGMD
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|-
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|CM090791||1247||C>A||Pro416Gln||HGMD
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|-
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|CM920565||1252||A>C||Thr418Pro||HGMD
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|-
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|rs199475696||1262||T>C||Ile421Thr||dbSNP
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|-
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|CM993961||1271||T>C||Leu424Ser||HGMD
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|-
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|CM010986||1289||T>C||Leu430Pro||HGMD
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|-
  +
|CM961086||1340||C>A||Ala447Asp||HGMD
  +
|}

Revision as of 13:50, 5 August 2013

Mutation Map

rs62514891 1 A>G Met1Val OMIM/dbSNP
CM000541 2 T>G Met1Arg HGMD
rs62514893 3 G>A Met1Ile OMIM/dbSNP
CM010947 46 T>C Ser16Pro HGMD
CM000542 59 A>T Gln20Leu HGMD
HM972014 65 C>A Thr22Lys HGMD
rs62642926 117 C>G Phe39Leu OMIM/dbSNP
CM961063 119 C>T Ser40Leu HGMD
rs74603784 136 G>A Gly46Ser OMIM/dbSNP
CM993577 140 C>A Ala47Glu HGMD
rs5030841 143 T>C Leu48Ser OMIM/dbSNP
CM981427 158 G>A Arg53His HGMD
CM024619 181 A>G Asn61Asp HGMD
rs75193786 194 T>C Ile65Thr OMIM/dbSNP
CM981429 208 T>C Ser70Pro HGMD
CM961066 250 G>T Asp84Tyr HGMD
CM981431 281 T>G Ile94Ser HGMD
CM992944 299 A>G His100Arg HGMD
CM045080 307 G>A Gly103Ser HGMD
CM010951 329 C>T Ser110Leu HGMD
rs76296470 331 C>T Arg111Ter OMIM/dbSNP
CM971124 365 C>A Pro122Gln HGMD
rs199475681 368 G>T Arg123Ile dbSNP
CM010952 385 G>T Asp129Tyr HGMD
CM981432 395 C>T Ala132Val HGMD
CM961070 434 A>T Asp145Val HGMD
CM056668 470 G>T Arg157Ile HGMD
rs5030843 473 G>A Arg158Gln OMIM/dbSNP
CM992371 506 G>A Arg169His HGMD
CM011946 508 C>G His170Asp HGMD
rs192592111 516 G>T Gln172His dbSNP
CM981435 561 G>C Trp187Cys -
CM950887 581 T>C Leu194Pro HGMD
CM981438 608 G>A Cys203Tyr HGMD
rs62514927 611 A>G Tyr204Cys OMIM/dbSNP
CM010961 648 C>G Tyr216Term HGMD
rs62514934 662 A>G Glu221Gly OMIM/dbSNP
CM971131 673 C>A Pro225Thr HGMD
CM034744 716 G>A Gly239Asp HGMD
rs5030846 727 C>T Arg243Ter OMIM/dbSNP
rs62508588 728 G>A Arg243Gln OMIM/dbSNP
rs118203923 731 C>T Pro244Leu OMIM/dbSNP
CM920550 731 C>T Pro244Leu HGMD
rs5030847 754 C>T Arg252Trp OMIM/dbSNP
CM920553 763 T>G Leu255Val HGMD
rs62642930 764 T>C Leu255Ser OMIM/dbSNP
rs118203921 776 C>T Ala259Val OMIM/dbSNP
CM910286 776 C>T Ala259Val HGMD
rs5030850 781 C>T Arg261Ter OMIM/dbSNP
rs5030849 782 G>A Arg261Gln OMIM/dbSNP
CM981442 794 G>A Cys265Tyr HGMD
rs62508752 796 A>C Thr266Ala dbSNP
CM081725 813 T>G His271Gln HGMD
rs62514952 814 G>T Gly272Ter OMIM/dbSNP
rs62514953 818 C>T Ser273Phe OMIM/dbSNP
CM034745 827 T>G Met276Arg HGMD
rs78655458 829 T>G Tyr277Asp OMIM/dbSNP
rs62508698 838 G>A Glu280Lys OMIM/dbSNP
CM992948 841 C>T Pro281Ser HGMD
rs5030851 842 C>T Pro281Leu OMIM/dbSNP
CM055475 869 A>G His290Arg HGMD
rs62642933 896 T>G Phe299Cys OMIM/dbSNP
CM015134 922 C>T Leu308Phe HGMD
rs62642936 932 T>C Leu311Pro OMIM/dbSNP
CM024623 940 C>T Pro314Ser HGMD
rs62514959 977 G>A Trp326Ter OMIM/dbSNP
CM990999 981 T>G Phe327Leu HGMD
CM961082 992 T>G Phe331Cys HGMD
CM043317 1007 A>G Gln336Arg HGMD
CM010981 1022 A>C Lys341Thr HGMD
CM000550 1031 G>T Gly344Val HGMD
rs62508646 1045 T>C Ser349Pro OMIM/dbSNP
CM981453 1048 T>A Ser350Thr HGMD
rs62516095 1068 C>G Tyr356Ter OMIM/dbSNP
CM101146 1071 C>A Cys357Term HGMD
rs5030854 1076 C>G Ser359Ter OMIM/dbSNP
CM068054 1089 G>T Lys363Asn HGMD
CM010984 1130 A>G Tyr377Cys HGMD
CM950896 1157 A>G Tyr386Cys HGMD
rs62516101 1162 G>A Val388Met OMIM/dbSNP
rs5030856 1169 A>G Glu390Gly OMIM/dbSNP
rs199475695 1175 T>C Phe392Ser dbSNP
CM043319 1184 C>A Ala395Asp HGMD
CM030921 1204 T>C Phe402Leu HGMD
rs62644473 1220 C>T Pro407Leu OMIM/dbSNP
rs5030858 1222 C>T Arg408Trp dbSNP
rs5030859 1223 G>A Arg408Gln OMIM/dbSNP
rs79931499 1238 G>C Arg413Pro OMIM/dbSNP
CM101145 1242 C>A Tyr414Term HGMD
CM090791 1247 C>A Pro416Gln HGMD
CM920565 1252 A>C Thr418Pro HGMD
rs199475696 1262 T>C Ile421Thr dbSNP
CM993961 1271 T>C Leu424Ser HGMD
CM010986 1289 T>C Leu430Pro HGMD
CM961086 1340 C>A Ala447Asp HGMD
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