| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133775510C>A | CA354610355 | TF | c.1765C>A (p.Pro589Thr) c.496C>A n.2759C>A c.1633C>A (p.Pro545Thr) c.1384C>A (p.Pro462Thr) | |
| 3 | g.133775510C= | CA1403122726 | TF | c.1765C= (p.Pro589=) c.496C= n.2759C= c.1633C= (p.Pro545=) c.1384C= (p.Pro462=) | |
| 3 | g.133775510C>G | CA354610356 | TF | c.1765C>G (p.Pro589Ala) c.496C>G n.2759C>G c.1633C>G (p.Pro545Ala) c.1384C>G (p.Pro462Ala) | dbSNP |
| 3 | g.133775510C>T | CA122563 | TF | c.1765C>T (p.Pro589Ser) c.496C>T n.2759C>T c.1633C>T (p.Pro545Ser) c.1384C>T (p.Pro462Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775511C>A | CA354610357 | TF | c.1766C>A (p.Pro589His) c.497C>A n.2760C>A c.1634C>A (p.Pro545His) c.1385C>A (p.Pro462His) | COSMIC |
| 3 | g.133775511C= | CA1403122730 | TF | c.1766C= (p.Pro589=) c.497C= n.2760C= c.1634C= (p.Pro545=) c.1385C= (p.Pro462=) | |
| 3 | g.133775511C>G | CA354610358 | TF | c.1766C>G (p.Pro589Arg) c.497C>G n.2760C>G c.1634C>G (p.Pro545Arg) c.1385C>G (p.Pro462Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775511C>T | CA354610359 | TF | c.1766C>T (p.Pro589Leu) c.497C>T n.2760C>T c.1634C>T (p.Pro545Leu) c.1385C>T (p.Pro462Leu) | |
| 3 | g.133775512T>A | CA435815837 | TF | c.1767T>A (p.Pro589=) c.498T>A n.2761T>A c.1635T>A (p.Pro545=) c.1386T>A (p.Pro462=) | |
| 3 | g.133775512T>C | CA435815838 | TF | c.1767T>C (p.Pro589=) c.498T>C n.2761T>C c.1635T>C (p.Pro545=) c.1386T>C (p.Pro462=) | |
| 3 | g.133775512T>G | CA435815839 | TF | c.1767T>G (p.Pro589=) c.498T>G n.2761T>G c.1635T>G (p.Pro545=) c.1386T>G (p.Pro462=) | |
| 3 | g.133775513G>A | CA354610360 | TF | c.1768G>A (p.Val590Met) c.499G>A n.2762G>A c.1636G>A (p.Val546Met) c.1387G>A (p.Val463Met) | |
| 3 | g.133775513G>C | CA354610361 | TF | c.1768G>C (p.Val590Leu) c.499G>C n.2762G>C c.1636G>C (p.Val546Leu) c.1387G>C (p.Val463Leu) | |
| 3 | g.133775513G>T | CA354610362 | TF | c.1768G>T (p.Val590Leu) c.499G>T n.2762G>T c.1636G>T (p.Val546Leu) c.1387G>T (p.Val463Leu) | |
| 3 | g.133775514T>A | CA354610363 | TF | c.1769T>A (p.Val590Glu) c.500T>A n.2763T>A c.1637T>A (p.Val546Glu) c.1388T>A (p.Val463Glu) | |
| 3 | g.133775514T>C | CA354610364 | TF | c.1769T>C (p.Val590Ala) c.500T>C n.2763T>C c.1637T>C (p.Val546Ala) c.1388T>C (p.Val463Ala) | gnomAD v4 |
| 3 | g.133775514T>G | CA354610365 | TF | c.1769T>G (p.Val590Gly) c.500T>G n.2763T>G c.1637T>G (p.Val546Gly) c.1388T>G (p.Val463Gly) | |
| 3 | g.133775515G>A | CA435815840 | TF | c.1770G>A (p.Val590=) c.501G>A n.2764G>A c.1638G>A (p.Val546=) c.1389G>A (p.Val463=) | |
| 3 | g.133775515G>C | CA435815841 | TF | c.1770G>C (p.Val590=) c.501G>C n.2764G>C c.1638G>C (p.Val546=) c.1389G>C (p.Val463=) | |
| 3 | g.133775515G>T | CA435815842 | TF | c.1770G>T (p.Val590=) c.501G>T n.2764G>T c.1638G>T (p.Val546=) c.1389G>T (p.Val463=) | |
| 3 | g.133775516G>A | CA354610367 | TF | c.1771G>A (p.Glu591Lys) c.502G>A n.2765G>A c.1639G>A (p.Glu547Lys) c.1390G>A (p.Glu464Lys) | dbSNP gnomAD v4 |
| 3 | g.133775516G>C | CA354610368 | TF | c.1771G>C (p.Glu591Gln) c.502G>C n.2765G>C c.1639G>C (p.Glu547Gln) c.1390G>C (p.Glu464Gln) | |
| 3 | g.133775516G>T | CA354610366 | TF | c.1771G>T (p.Glu591Ter) c.502G>T n.2765G>T c.1639G>T (p.Glu547Ter) c.1390G>T (p.Glu464Ter) | |
| 3 | g.133775517A>C | CA354610369 | TF | c.1772A>C (p.Glu591Ala) c.503A>C n.2766A>C c.1640A>C (p.Glu547Ala) c.1391A>C (p.Glu464Ala) | |
| 3 | g.133775517A>G | CA354610370 | TF | c.1772A>G (p.Glu591Gly) c.503A>G n.2766A>G c.1640A>G (p.Glu547Gly) c.1391A>G (p.Glu464Gly) | |
| 3 | g.133775517A>T | CA354610371 | TF | c.1772A>T (p.Glu591Val) c.503A>T n.2766A>T c.1640A>T (p.Glu547Val) c.1391A>T (p.Glu464Val) | |
| 3 | g.133775518G>A | CA2625407 | TF | c.1773G>A (p.Glu591=) c.504G>A n.2767G>A c.1641G>A (p.Glu547=) c.1392G>A (p.Glu464=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133775518G>C | CA354610372 | TF | c.1773G>C (p.Glu591Asp) c.504G>C n.2767G>C c.1641G>C (p.Glu547Asp) c.1392G>C (p.Glu464Asp) | |
| 3 | g.133775518G= | CA1403122734 | TF | c.1773G= (p.Glu591=) c.504G= n.2767G= c.1641G= (p.Glu547=) c.1392G= (p.Glu464=) | |
| 3 | g.133775518G>T | CA354610373 | TF | c.1773G>T (p.Glu591Asp) c.504G>T n.2767G>T c.1641G>T (p.Glu547Asp) c.1392G>T (p.Glu464Asp) | gnomAD v4 |
| 3 | g.133775519G>A | CA2625408 | TF | c.1774G>A (p.Glu592Lys) c.505G>A n.2768G>A c.1642G>A (p.Glu548Lys) c.1393G>A (p.Glu465Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775519G>C | CA354610374 | TF | c.1774G>C (p.Glu592Gln) c.505G>C n.2768G>C c.1642G>C (p.Glu548Gln) c.1393G>C (p.Glu465Gln) | gnomAD v4 |
| 3 | g.133775519G= | CA1403122740 | TF | c.1774G= (p.Glu592=) c.505G= n.2768G= c.1642G= (p.Glu548=) c.1393G= (p.Glu465=) | |
| 3 | g.133775519G>T | CA354610375 | TF | c.1774G>T (p.Glu592Ter) c.505G>T n.2768G>T c.1642G>T (p.Glu548Ter) c.1393G>T (p.Glu465Ter) | |
| 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 |