Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.61837828G>A | CA474551079 | FADS2 | c.258G>A (p.Leu86=) c.192G>A (p.Leu64=) c.-109G>A (n.-109G>A) c.165G>A (p.Leu55=) | |
11 | g.61837828G>C | CA380847493 | FADS2 | c.258G>C (p.Leu86Phe) c.192G>C (p.Leu64Phe) c.-109G>C (n.-109G>C) c.165G>C (p.Leu55Phe) | |
11 | g.61837828G>T | CA380847494 | FADS2 | c.258G>T (p.Leu86Phe) c.192G>T (p.Leu64Phe) c.-109G>T (n.-109G>T) c.165G>T (p.Leu55Phe) | |
11 | g.61837829A>C | CA380847498 | FADS2 | c.259A>C (p.Lys87Gln) c.193A>C (p.Lys65Gln) c.-108A>C (n.-108A>C) c.166A>C (p.Lys56Gln) | |
11 | g.61837829A>G | CA380847499 | FADS2 | c.259A>G (p.Lys87Glu) c.193A>G (p.Lys65Glu) c.-108A>G (n.-108A>G) c.166A>G (p.Lys56Glu) | |
11 | g.61837829A>T | CA380847501 | FADS2 | c.259A>T (p.Lys87Ter) c.193A>T (p.Lys65Ter) c.-108A>T (n.-108A>T) c.166A>T (p.Lys56Ter) | |
11 | g.61837830A>C | CA380847517 | FADS2 | c.260A>C (p.Lys87Thr) c.194A>C (p.Lys65Thr) c.-107A>C (n.-107A>C) c.167A>C (p.Lys56Thr) | |
11 | g.61837830A>G | CA380847515 | FADS2 | c.260A>G (p.Lys87Arg) c.194A>G (p.Lys65Arg) c.-107A>G (n.-107A>G) c.167A>G (p.Lys56Arg) | |
11 | g.61837830A>T | CA380847507 | FADS2 | c.260A>T (p.Lys87Ile) c.194A>T (p.Lys65Ile) c.-107A>T (n.-107A>T) c.167A>T (p.Lys56Ile) | |
11 | g.61837831A= | CA1977478586 | FADS2 | c.261A= (p.Lys87=) c.195A= (p.Lys65=) c.-106A= (n.-106A=) c.168A= (p.Lys56=) | |
11 | g.61837831A>C | CA380847520 | FADS2 | c.261A>C (p.Lys87Asn) c.195A>C (p.Lys65Asn) c.-106A>C (n.-106A>C) c.168A>C (p.Lys56Asn) | dbSNP |
11 | g.61837831A>G | CA474551080 | FADS2 | c.261A>G (p.Lys87=) c.195A>G (p.Lys65=) c.-106A>G (n.-106A>G) c.168A>G (p.Lys56=) | |
11 | g.61837831A>T | CA380847523 | FADS2 | c.261A>T (p.Lys87Asn) c.195A>T (p.Lys65Asn) c.-106A>T (n.-106A>T) c.168A>T (p.Lys56Asn) | |
11 | g.61837832C>A | CA380847526 | FADS2 | c.262C>A (p.Pro88Thr) c.196C>A (p.Pro66Thr) c.-105C>A (n.-105C>A) c.169C>A (p.Pro57Thr) | |
11 | g.61837832C= | CA1977478587 | FADS2 | c.262C= (p.Pro88=) c.196C= (p.Pro66=) c.-105C= (n.-105C=) c.169C= (p.Pro57=) | |
11 | g.61837832C>G | CA380847528 | FADS2 | c.262C>G (p.Pro88Ala) c.196C>G (p.Pro66Ala) c.-105C>G (n.-105C>G) c.169C>G (p.Pro57Ala) | |
11 | g.61837832C>T | CA6039270 | FADS2 | c.262C>T (p.Pro88Ser) c.196C>T (p.Pro66Ser) c.-105C>T (n.-105C>T) c.169C>T (p.Pro57Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837833C>A | CA380847533 | FADS2 | c.263C>A (p.Pro88His) c.197C>A (p.Pro66His) c.-104C>A (n.-104C>A) c.170C>A (p.Pro57His) | |
11 | g.61837833C= | CA1977478588 | FADS2 | c.263C= (p.Pro88=) c.197C= (p.Pro66=) c.-104C= (n.-104C=) c.170C= (p.Pro57=) | |
11 | g.61837833C>G | CA380847535 | FADS2 | c.263C>G (p.Pro88Arg) c.197C>G (p.Pro66Arg) c.-104C>G (n.-104C>G) c.170C>G (p.Pro57Arg) | |
11 | g.61837833C>T | CA380847544 | FADS2 | c.263C>T (p.Pro88Leu) c.197C>T (p.Pro66Leu) c.-104C>T (n.-104C>T) c.170C>T (p.Pro57Leu) | dbSNP |
11 | g.61837834C>A | CA474551081 | FADS2 | c.264C>A (p.Pro88=) c.198C>A (p.Pro66=) c.-103C>A (n.-103C>A) c.171C>A (p.Pro57=) | |
11 | g.61837834C= | CA1977478589 | FADS2 | c.264C= (p.Pro88=) c.198C= (p.Pro66=) c.-103C= (n.-103C=) c.171C= (p.Pro57=) | |
11 | g.61837834C>G | CA6039271 | FADS2 | c.264C>G (p.Pro88=) c.198C>G (p.Pro66=) c.-103C>G (n.-103C>G) c.171C>G (p.Pro57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837834C>T | CA6039272 | FADS2 | c.264C>T (p.Pro88=) c.198C>T (p.Pro66=) c.-103C>T (n.-103C>T) c.171C>T (p.Pro57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837835C>A | CA380847548 | FADS2 | c.265C>A (p.Leu89Met) c.199C>A (p.Leu67Met) c.-102C>A (n.-102C>A) c.172C>A (p.Leu58Met) | |
11 | g.61837835C= | CA1977478590 | FADS2 | c.265C= (p.Leu89=) c.199C= (p.Leu67=) c.-102C= (n.-102C=) c.172C= (p.Leu58=) | |
11 | g.61837835C>G | CA380847549 | FADS2 | c.265C>G (p.Leu89Val) c.199C>G (p.Leu67Val) c.-102C>G (n.-102C>G) c.172C>G (p.Leu58Val) | |
11 | g.61837835C>T | CA474551082 | FADS2 | c.265C>T (p.Leu89=) c.199C>T (p.Leu67=) c.-102C>T (n.-102C>T) c.172C>T (p.Leu58=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837836T>A | CA380847553 | FADS2 | c.266T>A (p.Leu89Gln) c.200T>A (p.Leu67Gln) c.-101T>A (n.-101T>A) c.173T>A (p.Leu58Gln) | |
11 | g.61837836T>C | CA380847551 | FADS2 | c.266T>C (p.Leu89Pro) c.200T>C (p.Leu67Pro) c.-101T>C (n.-101T>C) c.173T>C (p.Leu58Pro) | |
11 | g.61837836T>G | CA380847550 | FADS2 | c.266T>G (p.Leu89Arg) c.200T>G (p.Leu67Arg) c.-101T>G (n.-101T>G) c.173T>G (p.Leu58Arg) | |
11 | g.61837837G>A | CA474551084 | FADS2 | c.267G>A (p.Leu89=) c.201G>A (p.Leu67=) c.-100G>A (n.-100G>A) c.174G>A (p.Leu58=) | |
11 | g.61837837G>C | CA474551085 | FADS2 | c.267G>C (p.Leu89=) c.201G>C (p.Leu67=) c.-100G>C (n.-100G>C) c.174G>C (p.Leu58=) | |
11 | g.61837837G>T | CA474551083 | FADS2 | c.267G>T (p.Leu89=) c.201G>T (p.Leu67=) c.-100G>T (n.-100G>T) c.174G>T (p.Leu58=) | |
11 | g.61837838C>A | CA222932756 | FADS2 | c.268C>A (p.Leu90Met) c.202C>A (p.Leu68Met) c.-99C>A (n.-99C>A) c.175C>A (p.Leu59Met) | dbSNP |
11 | g.61837838C= | CA1977478591 | FADS2 | c.268C= (p.Leu90=) c.202C= (p.Leu68=) c.-99C= (n.-99C=) c.175C= (p.Leu59=) | |
11 | g.61837838C>G | CA380847556 | FADS2 | c.268C>G (p.Leu90Val) c.202C>G (p.Leu68Val) c.-99C>G (n.-99C>G) c.175C>G (p.Leu59Val) | |
11 | g.61837838C>T | CA474551086 | FADS2 | c.268C>T (p.Leu90=) c.202C>T (p.Leu68=) c.-99C>T (n.-99C>T) c.175C>T (p.Leu59=) | |
11 | g.61837839T>A | CA380847558 | FADS2 | c.269T>A (p.Leu90Gln) c.203T>A (p.Leu68Gln) c.-98T>A (n.-98T>A) c.176T>A (p.Leu59Gln) | |
11 | g.61837839T>C | CA380847561 | FADS2 | c.269T>C (p.Leu90Pro) c.203T>C (p.Leu68Pro) c.-98T>C (n.-98T>C) c.176T>C (p.Leu59Pro) | |
11 | g.61837839T>G | CA380847564 | FADS2 | c.269T>G (p.Leu90Arg) c.203T>G (p.Leu68Arg) c.-98T>G (n.-98T>G) c.176T>G (p.Leu59Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.61837839T= | CA1977478592 | FADS2 | c.269T= (p.Leu90=) c.203T= (p.Leu68=) c.-98T= (n.-98T=) c.176T= (p.Leu59=) | |
11 | g.61837840G>A | CA474551089 | FADS2 | c.270G>A (p.Leu90=) c.204G>A (p.Leu68=) c.-97G>A (n.-97G>A) c.177G>A (p.Leu59=) | gnomAD v4 |
11 | g.61837840G>C | CA474551087 | FADS2 | c.270G>C (p.Leu90=) c.204G>C (p.Leu68=) c.-97G>C (n.-97G>C) c.177G>C (p.Leu59=) | gnomAD v4 |
11 | g.61837840G>T | CA474551088 | FADS2 | c.270G>T (p.Leu90=) c.204G>T (p.Leu68=) c.-97G>T (n.-97G>T) c.177G>T (p.Leu59=) | |
11 | g.61837841A>C | CA380847566 | FADS2 | c.271A>C (p.Ile91Leu) c.205A>C (p.Ile69Leu) c.-96A>C (n.-96A>C) c.178A>C (p.Ile60Leu) | |
11 | g.61837841A>G | CA380847569 | FADS2 | c.271A>G (p.Ile91Val) c.205A>G (p.Ile69Val) c.-96A>G (n.-96A>G) c.178A>G (p.Ile60Val) | |
11 | g.61837841A>T | CA380847573 | FADS2 | c.271A>T (p.Ile91Phe) c.205A>T (p.Ile69Phe) c.-96A>T (n.-96A>T) c.178A>T (p.Ile60Phe) | |
11 | g.61837842T>A | CA380847577 | FADS2 | c.272T>A (p.Ile91Asn) c.206T>A (p.Ile69Asn) c.-95T>A (n.-95T>A) c.179T>A (p.Ile60Asn) | |
11 | g.61837842T>C | CA380847582 | FADS2 | c.272T>C (p.Ile91Thr) c.206T>C (p.Ile69Thr) c.-95T>C (n.-95T>C) c.179T>C (p.Ile60Thr) | gnomAD v4 |
11 | g.61837842T>G | CA380847584 | FADS2 | c.272T>G (p.Ile91Ser) c.206T>G (p.Ile69Ser) c.-95T>G (n.-95T>G) c.179T>G (p.Ile60Ser) | |
11 | g.61837843T>A | CA474551090 | FADS2 | c.273T>A (p.Ile91=) c.207T>A (p.Ile69=) c.-94T>A (n.-94T>A) c.180T>A (p.Ile60=) | |
11 | g.61837843T>C | CA474551091 | FADS2 | c.273T>C (p.Ile91=) c.207T>C (p.Ile69=) c.-94T>C (n.-94T>C) c.180T>C (p.Ile60=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.61837843T>G | CA380847587 | FADS2 | c.273T>G (p.Ile91Met) c.207T>G (p.Ile69Met) c.-94T>G (n.-94T>G) c.180T>G (p.Ile60Met) | |
11 | g.61837843T= | CA1977478593 | FADS2 | c.273T= (p.Ile91=) c.207T= (p.Ile69=) c.-94T= (n.-94T=) c.180T= (p.Ile60=) | |
11 | g.61837844G>A | CA380847590 | FADS2 | c.274G>A (p.Gly92Ser) c.208G>A (p.Gly70Ser) c.-93G>A (n.-93G>A) c.181G>A (p.Gly61Ser) | gnomAD v4 |
11 | g.61837844G>C | CA380847594 | FADS2 | c.274G>C (p.Gly92Arg) c.208G>C (p.Gly70Arg) c.-93G>C (n.-93G>C) c.181G>C (p.Gly61Arg) | |
11 | g.61837844G>T | CA380847593 | FADS2 | c.274G>T (p.Gly92Cys) c.208G>T (p.Gly70Cys) c.-93G>T (n.-93G>T) c.181G>T (p.Gly61Cys) | |
11 | g.61837845G>A | CA380847595 | FADS2 | c.275G>A (p.Gly92Asp) c.209G>A (p.Gly70Asp) c.-92G>A (n.-92G>A) c.182G>A (p.Gly61Asp) | |
11 | g.61837845G>C | CA380847596 | FADS2 | c.275G>C (p.Gly92Ala) c.209G>C (p.Gly70Ala) c.-92G>C (n.-92G>C) c.182G>C (p.Gly61Ala) | |
11 | g.61837845G>T | CA380847597 | FADS2 | c.275G>T (p.Gly92Val) c.209G>T (p.Gly70Val) c.-92G>T (n.-92G>T) c.182G>T (p.Gly61Val) | |
11 | g.61837846T>A | CA474551092 | FADS2 | c.276T>A (p.Gly92=) c.210T>A (p.Gly70=) c.-91T>A (n.-91T>A) c.183T>A (p.Gly61=) | |
11 | g.61837846T>C | CA474551093 | FADS2 | c.276T>C (p.Gly92=) c.210T>C (p.Gly70=) c.-91T>C (n.-91T>C) c.183T>C (p.Gly61=) | gnomAD v4 |
11 | g.61837846T>G | CA474551094 | FADS2 | c.276T>G (p.Gly92=) c.210T>G (p.Gly70=) c.-91T>G (n.-91T>G) c.183T>G (p.Gly61=) | |
11 | g.61837847G>A | CA380847600 | FADS2 | c.277G>A (p.Glu93Lys) c.211G>A (p.Glu71Lys) c.-90G>A (n.-90G>A) c.184G>A (p.Glu62Lys) | gnomAD v4 |
11 | g.61837847G>C | CA380847602 | FADS2 | c.277G>C (p.Glu93Gln) c.211G>C (p.Glu71Gln) c.-90G>C (n.-90G>C) c.184G>C (p.Glu62Gln) | |
11 | g.61837847G>T | CA380847603 | FADS2 | c.277G>T (p.Glu93Ter) c.211G>T (p.Glu71Ter) c.-90G>T (n.-90G>T) c.184G>T (p.Glu62Ter) | |
11 | g.61837848A= | CA1977478594 | FADS2 | c.278A= (p.Glu93=) c.212A= (p.Glu71=) c.-89A= (n.-89A=) c.185A= (p.Glu62=) | |
11 | g.61837848A>C | CA380847606 | FADS2 | c.278A>C (p.Glu93Ala) c.212A>C (p.Glu71Ala) c.-89A>C (n.-89A>C) c.185A>C (p.Glu62Ala) | |
11 | g.61837848A>G | CA6039273 | FADS2 | c.278A>G (p.Glu93Gly) c.212A>G (p.Glu71Gly) c.-89A>G (n.-89A>G) c.185A>G (p.Glu62Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837848A>T | CA380847611 | FADS2 | c.278A>T (p.Glu93Val) c.212A>T (p.Glu71Val) c.-89A>T (n.-89A>T) c.185A>T (p.Glu62Val) | |
11 | g.61837849A>C | CA380847616 | FADS2 | c.279A>C (p.Glu93Asp) c.213A>C (p.Glu71Asp) c.-88A>C (n.-88A>C) c.186A>C (p.Glu62Asp) | gnomAD v4 |
11 | g.61837849A>G | CA474551095 | FADS2 | c.279A>G (p.Glu93=) c.213A>G (p.Glu71=) c.-88A>G (n.-88A>G) c.186A>G (p.Glu62=) | |
11 | g.61837849A>T | CA380847617 | FADS2 | c.279A>T (p.Glu93Asp) c.213A>T (p.Glu71Asp) c.-88A>T (n.-88A>T) c.186A>T (p.Glu62Asp) | |
11 | g.61837850C>A | CA380847620 | FADS2 | c.280C>A (p.Leu94Met) c.214C>A (p.Leu72Met) c.-87C>A (n.-87C>A) c.187C>A (p.Leu63Met) | |
11 | g.61837850C= | CA1977478595 | FADS2 | c.280C= (p.Leu94=) c.214C= (p.Leu72=) c.-87C= (n.-87C=) c.187C= (p.Leu63=) | |
11 | g.61837850C>G | CA380847621 | FADS2 | c.280C>G (p.Leu94Val) c.214C>G (p.Leu72Val) c.-87C>G (n.-87C>G) c.187C>G (p.Leu63Val) | |
11 | g.61837850C>T | CA6039274 | FADS2 | c.280C>T (p.Leu94=) c.214C>T (p.Leu72=) c.-87C>T (n.-87C>T) c.187C>T (p.Leu63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837851T>A | CA380847625 | FADS2 | c.281T>A (p.Leu94Gln) c.215T>A (p.Leu72Gln) c.-86T>A (n.-86T>A) c.188T>A (p.Leu63Gln) | |
11 | g.61837851T>C | CA6039275 | FADS2 | c.281T>C (p.Leu94Pro) c.215T>C (p.Leu72Pro) c.-86T>C (n.-86T>C) c.188T>C (p.Leu63Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837851T>G | CA380847623 | FADS2 | c.281T>G (p.Leu94Arg) c.215T>G (p.Leu72Arg) c.-86T>G (n.-86T>G) c.188T>G (p.Leu63Arg) | |
11 | g.61837851T= | CA1977478596 | FADS2 | c.281T= (p.Leu94=) c.215T= (p.Leu72=) c.-86T= (n.-86T=) c.188T= (p.Leu63=) | |
11 | g.61837852G>A | CA474551096 | FADS2 | c.282G>A (p.Leu94=) c.216G>A (p.Leu72=) c.-85G>A (n.-85G>A) c.189G>A (p.Leu63=) | |
11 | g.61837852G>C | CA474551097 | FADS2 | c.282G>C (p.Leu94=) c.216G>C (p.Leu72=) c.-85G>C (n.-85G>C) c.189G>C (p.Leu63=) | |
11 | g.61837852G>T | CA474551098 | FADS2 | c.282G>T (p.Leu94=) c.216G>T (p.Leu72=) c.-85G>T (n.-85G>T) c.189G>T (p.Leu63=) | |
11 | g.61837853G>A | CA380847626 | FADS2 | c.283G>A (p.Ala95Thr) c.217G>A (p.Ala73Thr) c.-84G>A (n.-84G>A) c.190G>A (p.Ala64Thr) | |
11 | g.61837853G>C | CA380847627 | FADS2 | c.283G>C (p.Ala95Pro) c.217G>C (p.Ala73Pro) c.-84G>C (n.-84G>C) c.190G>C (p.Ala64Pro) | |
11 | g.61837853G>T | CA380847629 | FADS2 | c.283G>T (p.Ala95Ser) c.217G>T (p.Ala73Ser) c.-84G>T (n.-84G>T) c.190G>T (p.Ala64Ser) | |
11 | g.61837854C>A | CA380847631 | FADS2 | c.284C>A (p.Ala95Asp) c.218C>A (p.Ala73Asp) c.-83C>A (n.-83C>A) c.191C>A (p.Ala64Asp) | |
11 | g.61837854C>G | CA380847633 | FADS2 | c.284C>G (p.Ala95Gly) c.218C>G (p.Ala73Gly) c.-83C>G (n.-83C>G) c.191C>G (p.Ala64Gly) | |
11 | g.61837854C>T | CA380847634 | FADS2 | c.284C>T (p.Ala95Val) c.218C>T (p.Ala73Val) c.-83C>T (n.-83C>T) c.191C>T (p.Ala64Val) | |
11 | g.61837855C>A | CA474551099 | FADS2 | c.285C>A (p.Ala95=) c.219C>A (p.Ala73=) c.-82C>A (n.-82C>A) c.192C>A (p.Ala64=) | |
11 | g.61837855C= | CA1977478597 | FADS2 | c.285C= (p.Ala95=) c.219C= (p.Ala73=) c.-82C= (n.-82C=) c.192C= (p.Ala64=) | |
11 | g.61837855C>G | CA474551100 | FADS2 | c.285C>G (p.Ala95=) c.219C>G (p.Ala73=) c.-82C>G (n.-82C>G) c.192C>G (p.Ala64=) | |
11 | g.61837855C>T | CA6039276 | FADS2 | c.285C>T (p.Ala95=) c.219C>T (p.Ala73=) c.-82C>T (n.-82C>T) c.192C>T (p.Ala64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837856C>A | CA380847639 | FADS2 | c.286C>A (p.Pro96Thr) c.220C>A (p.Pro74Thr) c.-81C>A (n.-81C>A) c.193C>A (p.Pro65Thr) | |
11 | g.61837856C>G | CA380847643 | FADS2 | c.286C>G (p.Pro96Ala) c.220C>G (p.Pro74Ala) c.-81C>G (n.-81C>G) c.193C>G (p.Pro65Ala) | |
11 | g.61837856C>T | CA380847644 | FADS2 | c.286C>T (p.Pro96Ser) c.220C>T (p.Pro74Ser) c.-81C>T (n.-81C>T) c.193C>T (p.Pro65Ser) | |
11 | g.61837857C>A | CA380847646 | FADS2 | c.287C>A (p.Pro96Gln) c.221C>A (p.Pro74Gln) c.-80C>A (n.-80C>A) c.194C>A (p.Pro65Gln) | |
11 | g.61837857C= | CA1977478598 | FADS2 | c.287C= (p.Pro96=) c.221C= (p.Pro74=) c.-80C= (n.-80C=) c.194C= (p.Pro65=) | |
11 | g.61837857C>G | CA380847648 | FADS2 | c.287C>G (p.Pro96Arg) c.221C>G (p.Pro74Arg) c.-80C>G (n.-80C>G) c.194C>G (p.Pro65Arg) | |
11 | g.61837857C>T | CA6039277 | FADS2 | c.287C>T (p.Pro96Leu) c.221C>T (p.Pro74Leu) c.-80C>T (n.-80C>T) c.194C>T (p.Pro65Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837858G>A | CA6039278 | FADS2 | c.288G>A (p.Pro96=) c.222G>A (p.Pro74=) c.-79G>A (n.-79G>A) c.195G>A (p.Pro65=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837858G>C | CA474551102 | FADS2 | c.288G>C (p.Pro96=) c.222G>C (p.Pro74=) c.-79G>C (n.-79G>C) c.195G>C (p.Pro65=) | |
11 | g.61837858G= | CA1977478599 | FADS2 | c.288G= (p.Pro96=) c.222G= (p.Pro74=) c.-79G= (n.-79G=) c.195G= (p.Pro65=) | |
11 | g.61837858G>T | CA474551101 | FADS2 | c.288G>T (p.Pro96=) c.222G>T (p.Pro74=) c.-79G>T (n.-79G>T) c.195G>T (p.Pro65=) | |
11 | g.61837859G>A | CA380847655 | FADS2 | c.289G>A (p.Glu97Lys) c.223G>A (p.Glu75Lys) c.-78G>A (n.-78G>A) c.196G>A (p.Glu66Lys) | |
11 | g.61837859G>C | CA380847657 | FADS2 | c.289G>C (p.Glu97Gln) c.223G>C (p.Glu75Gln) c.-78G>C (n.-78G>C) c.196G>C (p.Glu66Gln) | |
11 | g.61837859G>T | CA380847653 | FADS2 | c.289G>T (p.Glu97Ter) c.223G>T (p.Glu75Ter) c.-78G>T (n.-78G>T) c.196G>T (p.Glu66Ter) | |
11 | g.61837860A>C | CA380847660 | FADS2 | c.290A>C (p.Glu97Ala) c.224A>C (p.Glu75Ala) c.-77A>C (n.-77A>C) c.197A>C (p.Glu66Ala) | |
11 | g.61837860A>G | CA380847661 | FADS2 | c.290A>G (p.Glu97Gly) c.224A>G (p.Glu75Gly) c.-77A>G (n.-77A>G) c.197A>G (p.Glu66Gly) | |
11 | g.61837860A>T | CA380847662 | FADS2 | c.290A>T (p.Glu97Val) c.224A>T (p.Glu75Val) c.-77A>T (n.-77A>T) c.197A>T (p.Glu66Val) | gnomAD v4 |
11 | g.61837861G>A | CA474551103 | FADS2 | c.291G>A (p.Glu97=) c.225G>A (p.Glu75=) c.-76G>A (n.-76G>A) c.198G>A (p.Glu66=) | dbSNP |
11 | g.61837861G>C | CA380847663 | FADS2 | c.291G>C (p.Glu97Asp) c.225G>C (p.Glu75Asp) c.-76G>C (n.-76G>C) c.198G>C (p.Glu66Asp) | |
11 | g.61837861G= | CA1977478600 | FADS2 | c.291G= (p.Glu97=) c.225G= (p.Glu75=) c.-76G= (n.-76G=) c.198G= (p.Glu66=) | |
11 | g.61837861G>T | CA380847665 | FADS2 | c.291G>T (p.Glu97Asp) c.225G>T (p.Glu75Asp) c.-76G>T (n.-76G>T) c.198G>T (p.Glu66Asp) | |
11 | g.61837862G>A | CA380847668 | FADS2 | c.292G>A (p.Glu98Lys) c.226G>A (p.Glu76Lys) c.-75G>A (n.-75G>A) c.199G>A (p.Glu67Lys) | |
11 | g.61837862G>C | CA380847670 | FADS2 | c.292G>C (p.Glu98Gln) c.226G>C (p.Glu76Gln) c.-75G>C (n.-75G>C) c.199G>C (p.Glu67Gln) | |
11 | g.61837862G>T | CA380847672 | FADS2 | c.292G>T (p.Glu98Ter) c.226G>T (p.Glu76Ter) c.-75G>T (n.-75G>T) c.199G>T (p.Glu67Ter) | |
11 | g.61837863A= | CA1977478601 | FADS2 | c.293A= (p.Glu98=) c.227A= (p.Glu76=) c.-74A= (n.-74A=) c.200A= (p.Glu67=) | |
11 | g.61837863A>C | CA380847674 | FADS2 | c.293A>C (p.Glu98Ala) c.227A>C (p.Glu76Ala) c.-74A>C (n.-74A>C) c.200A>C (p.Glu67Ala) | dbSNP |
11 | g.61837863A>G | CA380847677 | FADS2 | c.293A>G (p.Glu98Gly) c.227A>G (p.Glu76Gly) c.-74A>G (n.-74A>G) c.200A>G (p.Glu67Gly) | |
11 | g.61837863A>T | CA380847678 | FADS2 | c.293A>T (p.Glu98Val) c.227A>T (p.Glu76Val) c.-74A>T (n.-74A>T) c.200A>T (p.Glu67Val) | |
11 | g.61837864G>A | CA474551104 | FADS2 | c.294G>A (p.Glu98=) c.228G>A (p.Glu76=) c.-73G>A (n.-73G>A) c.201G>A (p.Glu67=) | |
11 | g.61837864G>C | CA380847680 | FADS2 | c.294G>C (p.Glu98Asp) c.228G>C (p.Glu76Asp) c.-73G>C (n.-73G>C) c.201G>C (p.Glu67Asp) | |
11 | g.61837864G>T | CA380847683 | FADS2 | c.294G>T (p.Glu98Asp) c.228G>T (p.Glu76Asp) c.-73G>T (n.-73G>T) c.201G>T (p.Glu67Asp) | gnomAD v4 |
11 | g.61837865C>A | CA380847694 | FADS2 | c.295C>A (p.Pro99Thr) c.229C>A (p.Pro77Thr) c.-72C>A (n.-72C>A) c.202C>A (p.Pro68Thr) | gnomAD v4 |
11 | g.61837865C>G | CA380847688 | FADS2 | c.295C>G (p.Pro99Ala) c.229C>G (p.Pro77Ala) c.-72C>G (n.-72C>G) c.202C>G (p.Pro68Ala) | |
11 | g.61837865C>T | CA380847691 | FADS2 | c.295C>T (p.Pro99Ser) c.229C>T (p.Pro77Ser) c.-72C>T (n.-72C>T) c.202C>T (p.Pro68Ser) | gnomAD v4 |
11 | g.61837866C>A | CA380847697 | FADS2 | c.296C>A (p.Pro99His) c.230C>A (p.Pro77His) c.-71C>A (n.-71C>A) c.203C>A (p.Pro68His) | |
11 | g.61837866C>G | CA380847698 | FADS2 | c.296C>G (p.Pro99Arg) c.230C>G (p.Pro77Arg) c.-71C>G (n.-71C>G) c.203C>G (p.Pro68Arg) | |
11 | g.61837866C>T | CA380847700 | FADS2 | c.296C>T (p.Pro99Leu) c.230C>T (p.Pro77Leu) c.-71C>T (n.-71C>T) c.203C>T (p.Pro68Leu) | |
11 | g.61837867C>A | CA474551105 | FADS2 | c.297C>A (p.Pro99=) c.231C>A (p.Pro77=) c.-70C>A (n.-70C>A) c.204C>A (p.Pro68=) | |
11 | g.61837867C>G | CA474551106 | FADS2 | c.297C>G (p.Pro99=) c.231C>G (p.Pro77=) c.-70C>G (n.-70C>G) c.204C>G (p.Pro68=) | |
11 | g.61837867C>T | CA474551107 | FADS2 | c.297C>T (p.Pro99=) c.231C>T (p.Pro77=) c.-70C>T (n.-70C>T) c.204C>T (p.Pro68=) | gnomAD v4 |
11 | g.61837868A>C | CA380847704 | FADS2 | c.298A>C (p.Ser100Arg) c.232A>C (p.Ser78Arg) c.-69A>C (n.-69A>C) c.205A>C (p.Ser69Arg) | |
11 | g.61837868A>G | CA380847706 | FADS2 | c.298A>G (p.Ser100Gly) c.232A>G (p.Ser78Gly) c.-69A>G (n.-69A>G) c.205A>G (p.Ser69Gly) | |
11 | g.61837868A>T | CA380847709 | FADS2 | c.298A>T (p.Ser100Cys) c.232A>T (p.Ser78Cys) c.-69A>T (n.-69A>T) c.205A>T (p.Ser69Cys) | |
11 | g.61837869G>A | CA380847711 | FADS2 | c.299G>A (p.Ser100Asn) c.233G>A (p.Ser78Asn) c.-68G>A (n.-68G>A) c.206G>A (p.Ser69Asn) | |
11 | g.61837869G>C | CA380847714 | FADS2 | c.299G>C (p.Ser100Thr) c.233G>C (p.Ser78Thr) c.-68G>C (n.-68G>C) c.206G>C (p.Ser69Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.61837869G= | CA1977478602 | FADS2 | c.299G= (p.Ser100=) c.233G= (p.Ser78=) c.-68G= (n.-68G=) c.206G= (p.Ser69=) | |
11 | g.61837869G>T | CA380847716 | FADS2 | c.299G>T (p.Ser100Ile) c.233G>T (p.Ser78Ile) c.-68G>T (n.-68G>T) c.206G>T (p.Ser69Ile) | |
11 | g.61837870C>A | CA380847720 | FADS2 | c.300C>A (p.Ser100Arg) c.234C>A (p.Ser78Arg) c.-67C>A (n.-67C>A) c.207C>A (p.Ser69Arg) | |
11 | g.61837870C= | CA1977478603 | FADS2 | c.300C= (p.Ser100=) c.234C= (p.Ser78=) c.-67C= (n.-67C=) c.207C= (p.Ser69=) | |
11 | g.61837870C>G | CA380847722 | FADS2 | c.300C>G (p.Ser100Arg) c.234C>G (p.Ser78Arg) c.-67C>G (n.-67C>G) c.207C>G (p.Ser69Arg) | |
11 | g.61837870C>T | CA474551108 | FADS2 | c.300C>T (p.Ser100=) c.234C>T (p.Ser78=) c.-67C>T (n.-67C>T) c.207C>T (p.Ser69=) | dbSNP COSMIC COSMIC |
11 | g.61837871C>A | CA380847726 | FADS2 | c.301C>A (p.Gln101Lys) c.235C>A (p.Gln79Lys) c.-66C>A (n.-66C>A) c.208C>A (p.Gln70Lys) | gnomAD v4 |
11 | g.61837871C>G | CA380847731 | FADS2 | c.301C>G (p.Gln101Glu) c.235C>G (p.Gln79Glu) c.-66C>G (n.-66C>G) c.208C>G (p.Gln70Glu) | gnomAD v4 |
11 | g.61837871C>T | CA380847728 | FADS2 | c.301C>T (p.Gln101Ter) c.235C>T (p.Gln79Ter) c.-66C>T (n.-66C>T) c.208C>T (p.Gln70Ter) | |
11 | g.61837872A>C | CA380847733 | FADS2 | c.302A>C (p.Gln101Pro) c.236A>C (p.Gln79Pro) c.-65A>C (n.-65A>C) c.209A>C (p.Gln70Pro) | |
11 | g.61837872A>G | CA380847739 | FADS2 | c.302A>G (p.Gln101Arg) c.236A>G (p.Gln79Arg) c.-65A>G (n.-65A>G) c.209A>G (p.Gln70Arg) | |
11 | g.61837872A>T | CA380847736 | FADS2 | c.302A>T (p.Gln101Leu) c.236A>T (p.Gln79Leu) c.-65A>T (n.-65A>T) c.209A>T (p.Gln70Leu) | |
11 | g.61837873G>A | CA474551109 | FADS2 | c.303G>A (p.Gln101=) c.237G>A (p.Gln79=) c.-64G>A (n.-64G>A) c.210G>A (p.Gln70=) | |
11 | g.61837873G>C | CA380847743 | FADS2 | c.303G>C (p.Gln101His) c.237G>C (p.Gln79His) c.-64G>C (n.-64G>C) c.210G>C (p.Gln70His) | |
11 | g.61837873G>T | CA380847745 | FADS2 | c.303G>T (p.Gln101His) c.237G>T (p.Gln79His) c.-64G>T (n.-64G>T) c.210G>T (p.Gln70His) | gnomAD v4 |
11 | g.61837874G>A | CA380847748 | FADS2 | c.304G>A (p.Asp102Asn) c.238G>A (p.Asp80Asn) c.-63G>A (n.-63G>A) c.211G>A (p.Asp71Asn) | |
11 | g.61837874G>C | CA380847750 | FADS2 | c.304G>C (p.Asp102His) c.238G>C (p.Asp80His) c.-63G>C (n.-63G>C) c.211G>C (p.Asp71His) | |
11 | g.61837874G>T | CA380847752 | FADS2 | c.304G>T (p.Asp102Tyr) c.238G>T (p.Asp80Tyr) c.-63G>T (n.-63G>T) c.211G>T (p.Asp71Tyr) | gnomAD v4 |
11 | g.61837875A>C | CA380847754 | FADS2 | c.305A>C (p.Asp102Ala) c.239A>C (p.Asp80Ala) c.-62A>C (n.-62A>C) c.212A>C (p.Asp71Ala) | gnomAD v4 |
11 | g.61837875A>G | CA380847757 | FADS2 | c.305A>G (p.Asp102Gly) c.239A>G (p.Asp80Gly) c.-62A>G (n.-62A>G) c.212A>G (p.Asp71Gly) | |
11 | g.61837875A>T | CA380847760 | FADS2 | c.305A>T (p.Asp102Val) c.239A>T (p.Asp80Val) c.-62A>T (n.-62A>T) c.212A>T (p.Asp71Val) | |
11 | g.61837876C>A | CA380847763 | FADS2 | c.306C>A (p.Asp102Glu) c.240C>A (p.Asp80Glu) c.-61C>A (n.-61C>A) c.213C>A (p.Asp71Glu) | |
11 | g.61837876C>G | CA380847766 | FADS2 | c.306C>G (p.Asp102Glu) c.240C>G (p.Asp80Glu) c.-61C>G (n.-61C>G) c.213C>G (p.Asp71Glu) | |
11 | g.61837876C>T | CA474551110 | FADS2 | c.306C>T (p.Asp102=) c.240C>T (p.Asp80=) c.-61C>T (n.-61C>T) c.213C>T (p.Asp71=) | |
11 | g.61837877C>A | CA380847771 | FADS2 | c.307C>A (p.His103Asn) c.241C>A (p.His81Asn) c.-60C>A (n.-60C>A) c.214C>A (p.His72Asn) | |
11 | g.61837877C>G | CA380847773 | FADS2 | c.307C>G (p.His103Asp) c.241C>G (p.His81Asp) c.-60C>G (n.-60C>G) c.214C>G (p.His72Asp) | |
11 | g.61837877C>T | CA380847777 | FADS2 | c.307C>T (p.His103Tyr) c.241C>T (p.His81Tyr) c.-60C>T (n.-60C>T) c.214C>T (p.His72Tyr) | COSMIC COSMIC |
11 | g.61837878A= | CA1977478604 | FADS2 | c.308A= (p.His103=) c.242A= (p.His81=) c.-59A= (n.-59A=) c.215A= (p.His72=) | |
11 | g.61837878A>C | CA380847780 | FADS2 | c.308A>C (p.His103Pro) c.242A>C (p.His81Pro) c.-59A>C (n.-59A>C) c.215A>C (p.His72Pro) | |
11 | g.61837878A>G | CA380847786 | FADS2 | c.308A>G (p.His103Arg) c.242A>G (p.His81Arg) c.-59A>G (n.-59A>G) c.215A>G (p.His72Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.61837878A>T | CA380847783 | FADS2 | c.308A>T (p.His103Leu) c.242A>T (p.His81Leu) c.-59A>T (n.-59A>T) c.215A>T (p.His72Leu) | |
11 | g.61837879C>A | CA380847792 | FADS2 | c.309C>A (p.His103Gln) c.243C>A (p.His81Gln) c.-58C>A (n.-58C>A) c.216C>A (p.His72Gln) | |
11 | g.61837879C= | CA1977478605 | FADS2 | c.309C= (p.His103=) c.243C= (p.His81=) c.-58C= (n.-58C=) c.216C= (p.His72=) | |
11 | g.61837879C>G | CA380847808 | FADS2 | c.309C>G (p.His103Gln) c.243C>G (p.His81Gln) c.-58C>G (n.-58C>G) c.216C>G (p.His72Gln) | |
11 | g.61837879C>T | CA6039279 | FADS2 | c.309C>T (p.His103=) c.243C>T (p.His81=) c.-58C>T (n.-58C>T) c.216C>T (p.His72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837880G>A | CA6039280 | FADS2 | c.310G>A (p.Gly104Ser) c.244G>A (p.Gly82Ser) c.-57G>A (n.-57G>A) c.217G>A (p.Gly73Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837880G>C | CA380847828 | FADS2 | c.310G>C (p.Gly104Arg) c.244G>C (p.Gly82Arg) c.-57G>C (n.-57G>C) c.217G>C (p.Gly73Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.61837880G= | CA1977478606 | FADS2 | c.310G= (p.Gly104=) c.244G= (p.Gly82=) c.-57G= (n.-57G=) c.217G= (p.Gly73=) | |
11 | g.61837880G>T | CA380847831 | FADS2 | c.310G>T (p.Gly104Cys) c.244G>T (p.Gly82Cys) c.-57G>T (n.-57G>T) c.217G>T (p.Gly73Cys) | gnomAD v4 |
11 | g.61837883_61837899del | CA2613904574 | FADS2 | c.313_318+11del c.247_252+11del c.-54_-49+11del c.220_225+11del | gnomAD v4 |
11 | g.61837881G>A | CA380847836 | FADS2 | c.311G>A (p.Gly104Asp) c.245G>A (p.Gly82Asp) c.-56G>A (n.-56G>A) c.218G>A (p.Gly73Asp) | gnomAD v4 COSMIC COSMIC |
11 | g.61837881G>C | CA380847839 | FADS2 | c.311G>C (p.Gly104Ala) c.245G>C (p.Gly82Ala) c.-56G>C (n.-56G>C) c.218G>C (p.Gly73Ala) | gnomAD v4 |
11 | g.61837881G>T | CA380847843 | FADS2 | c.311G>T (p.Gly104Val) c.245G>T (p.Gly82Val) c.-56G>T (n.-56G>T) c.218G>T (p.Gly73Val) | |
11 | g.61837882C>A | CA474551111 | FADS2 | c.312C>A (p.Gly104=) c.246C>A (p.Gly82=) c.-55C>A (n.-55C>A) c.219C>A (p.Gly73=) | gnomAD v4 |
11 | g.61837882C>G | CA474551112 | FADS2 | c.312C>G (p.Gly104=) c.246C>G (p.Gly82=) c.-55C>G (n.-55C>G) c.219C>G (p.Gly73=) | |
11 | g.61837882C>T | CA474551113 | FADS2 | c.312C>T (p.Gly104=) c.246C>T (p.Gly82=) c.-55C>T (n.-55C>T) c.219C>T (p.Gly73=) | |
11 | g.61837883A>C | CA380847855 | FADS2 | c.313A>C (p.Lys105Gln) c.247A>C (p.Lys83Gln) c.-54A>C (n.-54A>C) c.220A>C (p.Lys74Gln) | |
11 | g.61837883A>G | CA380847853 | FADS2 | c.313A>G (p.Lys105Glu) c.247A>G (p.Lys83Glu) c.-54A>G (n.-54A>G) c.220A>G (p.Lys74Glu) | |
11 | g.61837883A>T | CA380847848 | FADS2 | c.313A>T (p.Lys105Ter) c.247A>T (p.Lys83Ter) c.-54A>T (n.-54A>T) c.220A>T (p.Lys74Ter) | |
11 | g.61837884A>C | CA380847861 | FADS2 | c.314A>C (p.Lys105Thr) c.248A>C (p.Lys83Thr) c.-53A>C (n.-53A>C) c.221A>C (p.Lys74Thr) | |
11 | g.61837884A>G | CA380847863 | FADS2 | c.314A>G (p.Lys105Arg) c.248A>G (p.Lys83Arg) c.-53A>G (n.-53A>G) c.221A>G (p.Lys74Arg) | |
11 | g.61837884A>T | CA380847869 | FADS2 | c.314A>T (p.Lys105Met) c.248A>T (p.Lys83Met) c.-53A>T (n.-53A>T) c.221A>T (p.Lys74Met) | |
11 | g.61837885G>A | CA474551114 | FADS2 | c.315G>A (p.Lys105=) c.249G>A (p.Lys83=) c.-52G>A (n.-52G>A) c.222G>A (p.Lys74=) | |
11 | g.61837885G>C | CA380847875 | FADS2 | c.315G>C (p.Lys105Asn) c.249G>C (p.Lys83Asn) c.-52G>C (n.-52G>C) c.222G>C (p.Lys74Asn) | |
11 | g.61837885G>T | CA380847883 | FADS2 | c.315G>T (p.Lys105Asn) c.249G>T (p.Lys83Asn) c.-52G>T (n.-52G>T) c.222G>T (p.Lys74Asn) | |
11 | g.61837886A>C | CA380847898 | FADS2 | c.316A>C (p.Asn106His) c.250A>C (p.Asn84His) c.-51A>C (n.-51A>C) c.223A>C (p.Asn75His) | |
11 | g.61837886A>G | CA380847892 | FADS2 | c.316A>G (p.Asn106Asp) c.250A>G (p.Asn84Asp) c.-51A>G (n.-51A>G) c.223A>G (p.Asn75Asp) | |
11 | g.61837886A>T | CA380847887 | FADS2 | c.316A>T (p.Asn106Tyr) c.250A>T (p.Asn84Tyr) c.-51A>T (n.-51A>T) c.223A>T (p.Asn75Tyr) | |
11 | g.61837887A= | CA1977478607 | FADS2 | c.317A= (p.Asn106=) c.251A= (p.Asn84=) c.-50A= (n.-50A=) c.224A= (p.Asn75=) | |
11 | g.61837887A>C | CA380847903 | FADS2 | c.317A>C (p.Asn106Thr) c.251A>C (p.Asn84Thr) c.-50A>C (n.-50A>C) c.224A>C (p.Asn75Thr) | |
11 | g.61837887A>G | CA380847906 | FADS2 | c.317A>G (p.Asn106Ser) c.251A>G (p.Asn84Ser) c.-50A>G (n.-50A>G) c.224A>G (p.Asn75Ser) | dbSNP |
11 | g.61837887A>T | CA380847910 | FADS2 | c.317A>T (p.Asn106Ile) c.251A>T (p.Asn84Ile) c.-50A>T (n.-50A>T) c.224A>T (p.Asn75Ile) | |
11 | g.61837888C>A | CA380847912 | FADS2 | c.318C>A (p.Asn106Lys) c.252C>A (p.Asn84Lys) c.-49C>A (n.-49C>A) c.225C>A (p.Asn75Lys) | gnomAD v4 |
11 | g.61837888C= | CA1977478608 | FADS2 | c.318C= (p.Asn106=) c.252C= (p.Asn84=) c.-49C= (n.-49C=) c.225C= (p.Asn75=) | |
11 | g.61837888C>G | CA6039281 | FADS2 | c.318C>G (p.Asn106Lys) c.252C>G (p.Asn84Lys) c.-49C>G (n.-49C>G) c.225C>G (p.Asn75Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837888C>T | CA6039282 | FADS2 | c.318C>T (p.Asn106=) c.252C>T (p.Asn84=) c.-49C>T (n.-49C>T) c.225C>T (p.Asn75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837889G>A | CA6039283 | FADS2 | c.318+1G>A (n.318+1G>A) c.252+1G>A (n.252+1G>A) c.-49+1G>A (n.-49+1G>A) c.225+1G>A (n.225+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837889G>C | CA380847926 | FADS2 | c.318+1G>C (n.318+1G>C) c.252+1G>C (n.252+1G>C) c.-49+1G>C (n.-49+1G>C) c.225+1G>C (n.225+1G>C) | |
11 | g.61837889G= | CA1977478609 | FADS2 | c.318+1G= (n.318+1G=) c.252+1G= (n.252+1G=) c.-49+1G= (n.-49+1G=) c.225+1G= (n.225+1G=) | |
11 | g.61837889G>T | CA380847922 | FADS2 | c.318+1G>T (n.318+1G>T) c.252+1G>T (n.252+1G>T) c.-49+1G>T (n.-49+1G>T) c.225+1G>T (n.225+1G>T) | dbSNP gnomAD v2 |
11 | g.61837890T>A | CA380847930 | FADS2 | c.318+2T>A (n.318+2T>A) c.252+2T>A (n.252+2T>A) c.-49+2T>A (n.-49+2T>A) c.225+2T>A (n.225+2T>A) | gnomAD v4 |
11 | g.61837890T>C | CA380847934 | FADS2 | c.318+2T>C (n.318+2T>C) c.252+2T>C (n.252+2T>C) c.-49+2T>C (n.-49+2T>C) c.225+2T>C (n.225+2T>C) | |
11 | g.61837890T>G | CA380847938 | FADS2 | c.318+2T>G (n.318+2T>G) c.252+2T>G (n.252+2T>G) c.-49+2T>G (n.-49+2T>G) c.225+2T>G (n.225+2T>G) | |
11 | g.61837893G>A | CA222932789 | FADS2 | c.318+5G>A (n.318+5G>A) c.252+5G>A (n.252+5G>A) c.-49+5G>A (n.-49+5G>A) c.225+5G>A (n.225+5G>A) | dbSNP gnomAD v4 |
11 | g.61837893G= | CA1977478610 | FADS2 | c.318+5G= (n.318+5G=) c.252+5G= (n.252+5G=) c.-49+5G= (n.-49+5G=) c.225+5G= (n.225+5G=) | |
11 | g.61837895C>A | CA2574844685 | FADS2 | c.318+7C>A (n.318+7C>A) c.252+7C>A (n.252+7C>A) c.-49+7C>A (n.-49+7C>A) c.225+7C>A (n.225+7C>A) | gnomAD v4 |
11 | g.61837895C= | CA1977478611 | FADS2 | c.318+7C= (n.318+7C=) c.252+7C= (n.252+7C=) c.-49+7C= (n.-49+7C=) c.225+7C= (n.225+7C=) | |
11 | g.61837895C>G | CA222932791 | FADS2 | c.318+7C>G (n.318+7C>G) c.252+7C>G (n.252+7C>G) c.-49+7C>G (n.-49+7C>G) c.225+7C>G (n.225+7C>G) | dbSNP |
11 | g.61837898G>A | CA2613904594 | FADS2 | c.318+10G>A (n.318+10G>A) c.252+10G>A (n.252+10G>A) c.-49+10G>A (n.-49+10G>A) c.225+10G>A (n.225+10G>A) | gnomAD v4 |
11 | g.61837899C>A | CA2613904598 | FADS2 | c.318+11C>A (n.318+11C>A) c.252+11C>A (n.252+11C>A) c.-49+11C>A (n.-49+11C>A) c.225+11C>A (n.225+11C>A) | gnomAD v4 |
11 | g.61837900T>A | CA2723774490 | FADS2 | c.318+12T>A (n.318+12T>A) c.252+12T>A (n.252+12T>A) c.-49+12T>A (n.-49+12T>A) c.225+12T>A (n.225+12T>A) | dbSNP |
11 | g.61837900T>C | CA2613901773 | FADS2 | c.318+12T>C (n.318+12T>C) c.252+12T>C (n.252+12T>C) c.-49+12T>C (n.-49+12T>C) c.225+12T>C (n.225+12T>C) | gnomAD v4 |
11 | g.61837900T>G | CA1977478613 | FADS2 | c.318+12T>G (n.318+12T>G) c.252+12T>G (n.252+12T>G) c.-49+12T>G (n.-49+12T>G) c.225+12T>G (n.225+12T>G) | dbSNP |
11 | g.61837900T= | CA1977478612 | FADS2 | c.318+12T= (n.318+12T=) c.252+12T= (n.252+12T=) c.-49+12T= (n.-49+12T=) c.225+12T= (n.225+12T=) | |
11 | g.61837901T>C | CA2613901774 | FADS2 | c.318+13T>C (n.318+13T>C) c.252+13T>C (n.252+13T>C) c.-49+13T>C (n.-49+13T>C) c.225+13T>C (n.225+13T>C) | gnomAD v4 |
11 | g.61837903C>A | CA2613901775 | FADS2 | c.318+15C>A (n.318+15C>A) c.252+15C>A (n.252+15C>A) c.-49+15C>A (n.-49+15C>A) c.225+15C>A (n.225+15C>A) | gnomAD v4 |
11 | g.61837903C= | CA1977478614 | FADS2 | c.318+15C= (n.318+15C=) c.252+15C= (n.252+15C=) c.-49+15C= (n.-49+15C=) c.225+15C= (n.225+15C=) | |
11 | g.61837903C>T | CA222932794 | FADS2 | c.318+15C>T (n.318+15C>T) c.252+15C>T (n.252+15C>T) c.-49+15C>T (n.-49+15C>T) c.225+15C>T (n.225+15C>T) | dbSNP gnomAD v4 |
11 | g.61837904A= | CA1977478615 | FADS2 | c.318+16A= (n.318+16A=) c.252+16A= (n.252+16A=) c.-49+16A= (n.-49+16A=) c.225+16A= (n.225+16A=) | |
11 | g.61837904A>C | CA1977478616 | FADS2 | c.318+16A>C (n.318+16A>C) c.252+16A>C (n.252+16A>C) c.-49+16A>C (n.-49+16A>C) c.225+16A>C (n.225+16A>C) | dbSNP |
11 | g.61837905_61837906delinsAC | CA1977478617 | FADS2 | c.318+17_318+18delinsAC (n.318+17_318+18delinsAC) c.252+17_252+18delinsAC (n.252+17_252+18delinsAC) c.-49+17_-49+18delinsAC (n.-49+17_-49+18delinsAC) c.225+17_225+18delinsAC (n.225+17_225+18delinsAC) | |
11 | g.61837906C>A | CA6039284 | FADS2 | c.318+18C>A (n.318+18C>A) c.252+18C>A (n.252+18C>A) c.-49+18C>A (n.-49+18C>A) c.225+18C>A (n.225+18C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837906C= | CA1977478618 | FADS2 | c.318+18C= (n.318+18C=) c.252+18C= (n.252+18C=) c.-49+18C= (n.-49+18C=) c.225+18C= (n.225+18C=) | |
11 | g.61837906C>G | CA2501693078 | FADS2 | c.318+18C>G (n.318+18C>G) c.252+18C>G (n.252+18C>G) c.-49+18C>G (n.-49+18C>G) c.225+18C>G (n.225+18C>G) | |
11 | g.61837907del | CA679017221 | FADS2 | c.318+19del (n.318+19del) c.252+19del (n.252+19del) c.-49+19del (n.-49+19del) c.225+19del (n.225+19del) | dbSNP gnomAD v4 |
11 | g.61837907C>A | CA2613901783 | FADS2 | c.318+19C>A (n.318+19C>A) c.252+19C>A (n.252+19C>A) c.-49+19C>A (n.-49+19C>A) c.225+19C>A (n.225+19C>A) | gnomAD v4 |
11 | g.61837907C>T | CA2574844686 | FADS2 | c.318+19C>T (n.318+19C>T) c.252+19C>T (n.252+19C>T) c.-49+19C>T (n.-49+19C>T) c.225+19C>T (n.225+19C>T) | |
11 | g.61837908T>G | CA6039285 | FADS2 | c.318+20T>G (n.318+20T>G) c.252+20T>G (n.252+20T>G) c.-49+20T>G (n.-49+20T>G) c.225+20T>G (n.225+20T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837908T= | CA1977478619 | FADS2 | c.318+20T= (n.318+20T=) c.252+20T= (n.252+20T=) c.-49+20T= (n.-49+20T=) c.225+20T= (n.225+20T=) | |
11 | g.61837909G>A | CA6039286 | FADS2 | c.318+21G>A (n.318+21G>A) c.252+21G>A (n.252+21G>A) c.-49+21G>A (n.-49+21G>A) c.225+21G>A (n.225+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837909G= | CA1977478620 | FADS2 | c.318+21G= (n.318+21G=) c.252+21G= (n.252+21G=) c.-49+21G= (n.-49+21G=) c.225+21G= (n.225+21G=) | |
11 | g.61837909G>T | CA679017226 | FADS2 | c.318+21G>T (n.318+21G>T) c.252+21G>T (n.252+21G>T) c.-49+21G>T (n.-49+21G>T) c.225+21G>T (n.225+21G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.61837911del | CA2613901788 | FADS2 | c.318+23del (n.318+23del) c.252+23del (n.252+23del) c.-49+23del (n.-49+23del) c.225+23del (n.225+23del) | gnomAD v4 |
11 | g.61837910G>C | CA599520615 | FADS2 | c.318+22G>C (n.318+22G>C) c.252+22G>C (n.252+22G>C) c.-49+22G>C (n.-49+22G>C) c.225+22G>C (n.225+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.61837910G= | CA1977478621 | FADS2 | c.318+22G= (n.318+22G=) c.252+22G= (n.252+22G=) c.-49+22G= (n.-49+22G=) c.225+22G= (n.225+22G=) | |
11 | g.61837910G>T | CA2613901794 | FADS2 | c.318+22G>T (n.318+22G>T) c.252+22G>T (n.252+22G>T) c.-49+22G>T (n.-49+22G>T) c.225+22G>T (n.225+22G>T) | gnomAD v4 |
11 | g.61837911G>A | CA6039287 | FADS2 | c.318+23G>A (n.318+23G>A) c.252+23G>A (n.252+23G>A) c.-49+23G>A (n.-49+23G>A) c.225+23G>A (n.225+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837911G= | CA1977478622 | FADS2 | c.318+23G= (n.318+23G=) c.252+23G= (n.252+23G=) c.-49+23G= (n.-49+23G=) c.225+23G= (n.225+23G=) | |
11 | g.61837912T>A | CA2574844687 | FADS2 | c.318+24T>A (n.318+24T>A) c.252+24T>A (n.252+24T>A) c.-49+24T>A (n.-49+24T>A) c.225+24T>A (n.225+24T>A) | |
11 | g.61837912T>C | CA6039289 | FADS2 | c.318+24T>C (n.318+24T>C) c.252+24T>C (n.252+24T>C) c.-49+24T>C (n.-49+24T>C) c.225+24T>C (n.225+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837912T>G | CA2723705129 | FADS2 | c.318+24T>G (n.318+24T>G) c.252+24T>G (n.252+24T>G) c.-49+24T>G (n.-49+24T>G) c.225+24T>G (n.225+24T>G) | dbSNP |
11 | g.61837912T= | CA1977478623 | FADS2 | c.318+24T= (n.318+24T=) c.252+24T= (n.252+24T=) c.-49+24T= (n.-49+24T=) c.225+24T= (n.225+24T=) | |
11 | g.61837912_61837913delinsTG | CA1977478624 | FADS2 | c.318+24_318+25delinsTG (n.318+24_318+25delinsTG) c.252+24_252+25delinsTG (n.252+24_252+25delinsTG) c.-49+24_-49+25delinsTG (n.-49+24_-49+25delinsTG) c.225+24_225+25delinsTG (n.225+24_225+25delinsTG) | |
11 | g.61837921_61837938dup | CA599520616 | FADS2 | c.318+33_318+50dup (n.318+33_318+50dup) c.252+33_252+50dup (n.252+33_252+50dup) c.-49+33_-49+50dup (n.-49+33_-49+50dup) c.225+33_225+50dup (n.225+33_225+50dup) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.61837921_61837938del | CA2613901806 | FADS2 | c.318+33_318+50del (n.318+33_318+50del) c.252+33_252+50del (n.252+33_252+50del) c.-49+33_-49+50del (n.-49+33_-49+50del) c.225+33_225+50del (n.225+33_225+50del) | gnomAD v4 |
11 | g.61837913G>A | CA1977478626 | FADS2 | c.318+25G>A (n.318+25G>A) c.252+25G>A (n.252+25G>A) c.-49+25G>A (n.-49+25G>A) c.225+25G>A (n.225+25G>A) | dbSNP gnomAD v4 |
11 | g.61837913G>C | CA2613901812 | FADS2 | c.318+25G>C (n.318+25G>C) c.252+25G>C (n.252+25G>C) c.-49+25G>C (n.-49+25G>C) c.225+25G>C (n.225+25G>C) | gnomAD v4 |
11 | g.61837913G= | CA1977478625 | FADS2 | c.318+25G= (n.318+25G=) c.252+25G= (n.252+25G=) c.-49+25G= (n.-49+25G=) c.225+25G= (n.225+25G=) | |
11 | g.61837913G>T | CA599520617 | FADS2 | c.318+25G>T (n.318+25G>T) c.252+25G>T (n.252+25G>T) c.-49+25G>T (n.-49+25G>T) c.225+25G>T (n.225+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.61837917del | CA6039288 | FADS2 | c.318+29del (n.318+29del) c.252+29del (n.252+29del) c.-49+29del (n.-49+29del) c.225+29del (n.225+29del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837914G>A | CA599520618 | FADS2 | c.318+26G>A (n.318+26G>A) c.252+26G>A (n.252+26G>A) c.-49+26G>A (n.-49+26G>A) c.225+26G>A (n.225+26G>A) | dbSNP gnomAD v2 |
11 | g.61837914G= | CA1977478627 | FADS2 | c.318+26G= (n.318+26G=) c.252+26G= (n.252+26G=) c.-49+26G= (n.-49+26G=) c.225+26G= (n.225+26G=) | |
11 | g.61837914G>T | CA2613901819 | FADS2 | c.318+26G>T (n.318+26G>T) c.252+26G>T (n.252+26G>T) c.-49+26G>T (n.-49+26G>T) c.225+26G>T (n.225+26G>T) | gnomAD v4 |
11 | g.61837915G>T | CA2613901821 | FADS2 | c.318+27G>T (n.318+27G>T) c.252+27G>T (n.252+27G>T) c.-49+27G>T (n.-49+27G>T) c.225+27G>T (n.225+27G>T) | gnomAD v4 |
11 | g.61837916G>C | CA1977478629 | FADS2 | c.318+28G>C (n.318+28G>C) c.252+28G>C (n.252+28G>C) c.-49+28G>C (n.-49+28G>C) c.225+28G>C (n.225+28G>C) | dbSNP gnomAD v4 |
11 | g.61837916G= | CA1977478628 | FADS2 | c.318+28G= (n.318+28G=) c.252+28G= (n.252+28G=) c.-49+28G= (n.-49+28G=) c.225+28G= (n.225+28G=) | |
11 | g.61837916G>T | CA2613901823 | FADS2 | c.318+28G>T (n.318+28G>T) c.252+28G>T (n.252+28G>T) c.-49+28G>T (n.-49+28G>T) c.225+28G>T (n.225+28G>T) | gnomAD v4 |
11 | g.61837917G>A | CA938623291 | FADS2 | c.318+29G>A (n.318+29G>A) c.252+29G>A (n.252+29G>A) c.-49+29G>A (n.-49+29G>A) c.225+29G>A (n.225+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.61837917G= | CA1977478630 | FADS2 | c.318+29G= (n.318+29G=) c.252+29G= (n.252+29G=) c.-49+29G= (n.-49+29G=) c.225+29G= (n.225+29G=) | |
11 | g.61837917G>T | CA6039290 | FADS2 | c.318+29G>T (n.318+29G>T) c.252+29G>T (n.252+29G>T) c.-49+29G>T (n.-49+29G>T) c.225+29G>T (n.225+29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837918T>A | CA679017245 | FADS2 | c.318+30T>A (n.318+30T>A) c.252+30T>A (n.252+30T>A) c.-49+30T>A (n.-49+30T>A) c.225+30T>A (n.225+30T>A) | dbSNP |
11 | g.61837918T>G | CA2723714838 | FADS2 | c.318+30T>G (n.318+30T>G) c.252+30T>G (n.252+30T>G) c.-49+30T>G (n.-49+30T>G) c.225+30T>G (n.225+30T>G) | dbSNP |
11 | g.61837918T= | CA1977478631 | FADS2 | c.318+30T= (n.318+30T=) c.252+30T= (n.252+30T=) c.-49+30T= (n.-49+30T=) c.225+30T= (n.225+30T=) | |
11 | g.61837919G>A | CA2613901837 | FADS2 | c.318+31G>A (n.318+31G>A) c.252+31G>A (n.252+31G>A) c.-49+31G>A (n.-49+31G>A) c.225+31G>A (n.225+31G>A) | gnomAD v4 |
11 | g.61837919G>T | CA2613901859 | FADS2 | c.318+31G>T (n.318+31G>T) c.252+31G>T (n.252+31G>T) c.-49+31G>T (n.-49+31G>T) c.225+31G>T (n.225+31G>T) | gnomAD v4 |
11 | g.61837922G>A | CA2574844688 | FADS2 | c.318+34G>A (n.318+34G>A) c.252+34G>A (n.252+34G>A) c.-49+34G>A (n.-49+34G>A) c.225+34G>A (n.225+34G>A) | |
11 | g.61837922G>T | CA2613901864 | FADS2 | c.318+34G>T (n.318+34G>T) c.252+34G>T (n.252+34G>T) c.-49+34G>T (n.-49+34G>T) c.225+34G>T (n.225+34G>T) | gnomAD v4 |
11 | g.61837924C>A | CA2613901867 | FADS2 | c.318+36C>A (n.318+36C>A) c.252+36C>A (n.252+36C>A) c.-49+36C>A (n.-49+36C>A) c.225+36C>A (n.225+36C>A) | gnomAD v4 |
11 | g.61837924C= | CA1977478632 | FADS2 | c.318+36C= (n.318+36C=) c.252+36C= (n.252+36C=) c.-49+36C= (n.-49+36C=) c.225+36C= (n.225+36C=) | |
11 | g.61837924C>T | CA222932809 | FADS2 | c.318+36C>T (n.318+36C>T) c.252+36C>T (n.252+36C>T) c.-49+36C>T (n.-49+36C>T) c.225+36C>T (n.225+36C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837925G>A | CA6039291 | FADS2 | c.318+37G>A (n.318+37G>A) c.252+37G>A (n.252+37G>A) c.-49+37G>A (n.-49+37G>A) c.225+37G>A (n.225+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.61837925G= | CA1977478633 | FADS2 | c.318+37G= (n.318+37G=) c.252+37G= (n.252+37G=) c.-49+37G= (n.-49+37G=) c.225+37G= (n.225+37G=) | |
11 | g.61837925G>T | CA2613901872 | FADS2 | c.318+37G>T (n.318+37G>T) c.252+37G>T (n.252+37G>T) c.-49+37G>T (n.-49+37G>T) c.225+37G>T (n.225+37G>T) | gnomAD v4 |
11 | g.61837927G>A | CA6039292 | FADS2 | c.318+39G>A (n.318+39G>A) c.252+39G>A (n.252+39G>A) c.-49+39G>A (n.-49+39G>A) c.225+39G>A (n.225+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.61837927G= | CA1977478634 | FADS2 | c.318+39G= (n.318+39G=) c.252+39G= (n.252+39G=) c.-49+39G= (n.-49+39G=) c.225+39G= (n.225+39G=) | |
11 | g.61837927G>T | CA2613901876 | FADS2 | c.318+39G>T (n.318+39G>T) c.252+39G>T (n.252+39G>T) c.-49+39G>T (n.-49+39G>T) c.225+39G>T (n.225+39G>T) | gnomAD v4 |
11 | g.61837928G>T | CA2613901878 | FADS2 | c.318+40G>T (n.318+40G>T) c.252+40G>T (n.252+40G>T) c.-49+40G>T (n.-49+40G>T) c.225+40G>T (n.225+40G>T) | gnomAD v4 |