Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133775520A= | CA1403122747 | TF | c.1775A= (p.Glu592=) c.506A= n.2769A= c.1643A= (p.Glu548=) c.1394A= (p.Glu465=) | |
3 | g.133775520A>C | CA354610376 | TF | c.1775A>C (p.Glu592Ala) c.506A>C n.2769A>C c.1643A>C (p.Glu548Ala) c.1394A>C (p.Glu465Ala) | gnomAD v4 |
3 | g.133775520A>G | CA354610377 | TF | c.1775A>G (p.Glu592Gly) c.506A>G n.2769A>G c.1643A>G (p.Glu548Gly) c.1394A>G (p.Glu465Gly) | ClinVar |
3 | g.133775520A>T | CA354610378 | TF | c.1775A>T (p.Glu592Val) c.506A>T n.2769A>T c.1643A>T (p.Glu548Val) c.1394A>T (p.Glu465Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775521G>A | CA435815843 | TF | c.1776G>A (p.Glu592=) c.507G>A n.2770G>A c.1644G>A (p.Glu548=) c.1395G>A (p.Glu465=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775521G>C | CA354610380 | TF | c.1776G>C (p.Glu592Asp) c.507G>C n.2770G>C c.1644G>C (p.Glu548Asp) c.1395G>C (p.Glu465Asp) | |
3 | g.133775521G= | CA1403122753 | TF | c.1776G= (p.Glu592=) c.507G= n.2770G= c.1644G= (p.Glu548=) c.1395G= (p.Glu465=) | |
3 | g.133775521G>T | CA354610379 | TF | c.1776G>T (p.Glu592Asp) c.507G>T n.2770G>T c.1644G>T (p.Glu548Asp) c.1395G>T (p.Glu465Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775522T>A | CA354610381 | TF | c.1777T>A (p.Tyr593Asn) c.508T>A n.2771T>A c.1645T>A (p.Tyr549Asn) c.1396T>A (p.Tyr466Asn) | |
3 | g.133775522T>C | CA354610382 | TF | c.1777T>C (p.Tyr593His) c.508T>C n.2771T>C c.1645T>C (p.Tyr549His) c.1396T>C (p.Tyr466His) | gnomAD v4 |
3 | g.133775522T>G | CA354610383 | TF | c.1777T>G (p.Tyr593Asp) c.508T>G n.2771T>G c.1645T>G (p.Tyr549Asp) c.1396T>G (p.Tyr466Asp) | |
3 | g.133775523A>C | CA354610384 | TF | c.1778A>C (p.Tyr593Ser) c.509A>C n.2772A>C c.1646A>C (p.Tyr549Ser) c.1397A>C (p.Tyr466Ser) | |
3 | g.133775523A>G | CA354610385 | TF | c.1778A>G (p.Tyr593Cys) c.509A>G n.2772A>G c.1646A>G (p.Tyr549Cys) c.1397A>G (p.Tyr466Cys) | gnomAD v4 |
3 | g.133775523A>T | CA354610386 | TF | c.1778A>T (p.Tyr593Phe) c.509A>T n.2772A>T c.1646A>T (p.Tyr549Phe) c.1397A>T (p.Tyr466Phe) | |
3 | g.133775524T>A | CA354610387 | TF | c.1779T>A (p.Tyr593Ter) c.510T>A n.2773T>A c.1647T>A (p.Tyr549Ter) c.1398T>A (p.Tyr466Ter) | |
3 | g.133775524T>C | CA2625409 | TF | c.1779T>C (p.Tyr593=) c.510T>C n.2773T>C c.1647T>C (p.Tyr549=) c.1398T>C (p.Tyr466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775524T>G | CA354610388 | TF | c.1779T>G (p.Tyr593Ter) c.510T>G n.2773T>G c.1647T>G (p.Tyr549Ter) c.1398T>G (p.Tyr466Ter) | |
3 | g.133775524T= | CA1403122758 | TF | c.1779T= (p.Tyr593=) c.510T= n.2773T= c.1647T= (p.Tyr549=) c.1398T= (p.Tyr466=) | |
3 | g.133775525G>A | CA354610389 | TF | c.1780G>A (p.Ala594Thr) c.511G>A n.2774G>A c.1648G>A (p.Ala550Thr) c.1399G>A (p.Ala467Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775525G>C | CA354610390 | TF | c.1780G>C (p.Ala594Pro) c.511G>C n.2774G>C c.1648G>C (p.Ala550Pro) c.1399G>C (p.Ala467Pro) | |
3 | g.133775525G= | CA1403122760 | TF | c.1780G= (p.Ala594=) c.511G= n.2774G= c.1648G= (p.Ala550=) c.1399G= (p.Ala467=) | |
3 | g.133775525G>T | CA354610391 | TF | c.1780G>T (p.Ala594Ser) c.511G>T n.2774G>T c.1648G>T (p.Ala550Ser) c.1399G>T (p.Ala467Ser) | |
3 | g.133775526C>A | CA354610392 | TF | c.1781C>A (p.Ala594Glu) c.512C>A n.2775C>A c.1649C>A (p.Ala550Glu) c.1400C>A (p.Ala467Glu) | |
3 | g.133775526C= | CA1403122762 | TF | c.1781C= (p.Ala594=) c.512C= n.2775C= c.1649C= (p.Ala550=) c.1400C= (p.Ala467=) | |
3 | g.133775526C>G | CA354610394 | TF | c.1781C>G (p.Ala594Gly) c.512C>G n.2775C>G c.1649C>G (p.Ala550Gly) c.1400C>G (p.Ala467Gly) | |
3 | g.133775526C>T | CA354610393 | TF | c.1781C>T (p.Ala594Val) c.512C>T n.2775C>T c.1649C>T (p.Ala550Val) c.1400C>T (p.Ala467Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775527G>A | CA2625411 | TF | c.1782G>A (p.Ala594=) c.513G>A n.2776G>A c.1650G>A (p.Ala550=) c.1401G>A (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775527G>C | CA435815844 | TF | c.1782G>C (p.Ala594=) c.513G>C n.2776G>C c.1650G>C (p.Ala550=) c.1401G>C (p.Ala467=) | ClinVar gnomAD v4 |
3 | g.133775527G= | CA1403122767 | TF | c.1782G= (p.Ala594=) c.513G= n.2776G= c.1650G= (p.Ala550=) c.1401G= (p.Ala467=) | |
3 | g.133775527G>T | CA2625410 | TF | c.1782G>T (p.Ala594=) c.513G>T n.2776G>T c.1650G>T (p.Ala550=) c.1401G>T (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775528A>C | CA354610395 | TF | c.1783A>C (p.Asn595His) c.514A>C n.2777A>C c.1651A>C (p.Asn551His) c.1402A>C (p.Asn468His) | |
3 | g.133775528A>G | CA354610397 | TF | c.1783A>G (p.Asn595Asp) c.514A>G n.2777A>G c.1651A>G (p.Asn551Asp) c.1402A>G (p.Asn468Asp) | |
3 | g.133775528A>T | CA354610396 | TF | c.1783A>T (p.Asn595Tyr) c.514A>T n.2777A>T c.1651A>T (p.Asn551Tyr) c.1402A>T (p.Asn468Tyr) | |
3 | g.133775529A= | CA1403122773 | TF | c.1784A= (p.Asn595=) c.515A= n.2778A= c.1652A= (p.Asn551=) c.1403A= (p.Asn468=) | |
3 | g.133775529A>C | CA354610398 | TF | c.1784A>C (p.Asn595Thr) c.515A>C n.2778A>C c.1652A>C (p.Asn551Thr) c.1403A>C (p.Asn468Thr) | dbSNP |
3 | g.133775529A>G | CA354610400 | TF | c.1784A>G (p.Asn595Ser) c.515A>G n.2778A>G c.1652A>G (p.Asn551Ser) c.1403A>G (p.Asn468Ser) | |
3 | g.133775529A>T | CA354610399 | TF | c.1784A>T (p.Asn595Ile) c.515A>T n.2778A>T c.1652A>T (p.Asn551Ile) c.1403A>T (p.Asn468Ile) | |
3 | g.133775530C>A | CA354610401 | TF | c.1785C>A (p.Asn595Lys) c.516C>A n.2779C>A c.1653C>A (p.Asn551Lys) c.1404C>A (p.Asn468Lys) | gnomAD v4 |
3 | g.133775530C= | CA1403122782 | TF | c.1785C= (p.Asn595=) c.516C= n.2779C= c.1653C= (p.Asn551=) c.1404C= (p.Asn468=) | |
3 | g.133775530C>G | CA354610402 | TF | c.1785C>G (p.Asn595Lys) c.516C>G n.2779C>G c.1653C>G (p.Asn551Lys) c.1404C>G (p.Asn468Lys) | |
3 | g.133775530C>T | CA2625412 | TF | c.1785C>T (p.Asn595=) c.516C>T n.2779C>T c.1653C>T (p.Asn551=) c.1404C>T (p.Asn468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775531T>A | CA354610403 | TF | c.1786T>A (p.Cys596Ser) c.517T>A n.2780T>A c.1654T>A (p.Cys552Ser) c.1405T>A (p.Cys469Ser) | |
3 | g.133775531T>C | CA354610405 | TF | c.1786T>C (p.Cys596Arg) c.517T>C n.2780T>C c.1654T>C (p.Cys552Arg) c.1405T>C (p.Cys469Arg) | |
3 | g.133775531T>G | CA354610404 | TF | c.1786T>G (p.Cys596Gly) c.517T>G n.2780T>G c.1654T>G (p.Cys552Gly) c.1405T>G (p.Cys469Gly) | |
3 | g.133775532G>A | CA354610406 | TF | c.1787G>A (p.Cys596Tyr) c.518G>A n.2781G>A c.1655G>A (p.Cys552Tyr) c.1406G>A (p.Cys469Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775532G>C | CA354610408 | TF | c.1787G>C (p.Cys596Ser) c.518G>C n.2781G>C c.1655G>C (p.Cys552Ser) c.1406G>C (p.Cys469Ser) | |
3 | g.133775532G= | CA1403122791 | TF | c.1787G= (p.Cys596=) c.518G= n.2781G= c.1655G= (p.Cys552=) c.1406G= (p.Cys469=) | |
3 | g.133775532G>T | CA354610407 | TF | c.1787G>T (p.Cys596Phe) c.518G>T n.2781G>T c.1655G>T (p.Cys552Phe) c.1406G>T (p.Cys469Phe) | |
3 | g.133775533C>A | CA354610409 | TF | c.1788C>A (p.Cys596Ter) c.519C>A n.2782C>A c.1656C>A (p.Cys552Ter) c.1407C>A (p.Cys469Ter) | |
3 | g.133775533C>G | CA354610410 | TF | c.1788C>G (p.Cys596Trp) c.519C>G n.2782C>G c.1656C>G (p.Cys552Trp) c.1407C>G (p.Cys469Trp) |