| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.120632027_120635038del | CA2582342871 | HGD | c.1007-1709_1188+1121del c.286-1709_467+1121del c.782-1709_963+1121del c.584-1709_765+1121del | ClinVar |
| 3 | g.120633172_120633176delinsGGTGC | CA1397090704 | HGD | c.1159_1163delinsGCACC (p.Ala387=) n.499_503delinsGCACC c.438_442delinsGCACC (n.438_442delinsGCACC) c.934_938delinsGCACC (p.Ala312=) c.736_740delinsGCACC (p.Ala246=) | |
| 3 | g.120633173G>A | CA2559960 | HGD | c.1162C>T (p.Pro388Ser) n.502C>T c.441C>T (n.441C>T) c.937C>T (p.Pro313Ser) c.739C>T (p.Pro247Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.120633173G>C | CA354072703 | HGD | c.1162C>G (p.Pro388Ala) n.502C>G c.441C>G (n.441C>G) c.937C>G (p.Pro313Ala) c.739C>G (p.Pro247Ala) | |
| 3 | g.120633173G= | CA1397090706 | HGD | c.1162C= (p.Pro388=) n.502C= c.441C= (n.441C=) c.937C= (p.Pro313=) c.739C= (p.Pro247=) | |
| 3 | g.120633173G>T | CA354072704 | HGD | c.1162C>A (p.Pro388Thr) n.502C>A c.441C>A (n.441C>A) c.937C>A (p.Pro313Thr) c.739C>A (p.Pro247Thr) | |
| 3 | g.120633173_120633176del | CA1397090705 | HGD | c.1159_1162del (p.Ala387LeufsTer17) n.499_502del c.438_441del (n.438_441del) c.934_937del (p.Ala312LeufsTer17) c.736_739del (p.Ala246LeufsTer17) | dbSNP |
| 3 | g.120633174T>A | CA435225728 | HGD | c.1161A>T (p.Ala387=) n.501A>T c.440A>T (n.440A>T) c.936A>T (p.Ala312=) c.738A>T (p.Ala246=) | |
| 3 | g.120633174T>C | CA435225729 | HGD | c.1161A>G (p.Ala387=) n.501A>G c.440A>G (n.440A>G) c.936A>G (p.Ala312=) c.738A>G (p.Ala246=) | |
| 3 | g.120633174T>G | CA435225730 | HGD | c.1161A>C (p.Ala387=) n.501A>C c.440A>C (n.440A>C) c.936A>C (p.Ala312=) c.738A>C (p.Ala246=) | |
| 3 | g.120633174_120633178delinsTGCCA | CA1397090707 | HGD | c.1157_1161delinsTGGCA (p.Leu386=) n.497_501delinsTGGCA c.436_440delinsTGGCA (n.436_440delinsTGGCA) c.932_936delinsTGGCA (p.Leu311=) c.734_738delinsTGGCA (p.Leu245=) | |
| 3 | g.120633175G>A | CA354072706 | HGD | c.1160C>T (p.Ala387Val) n.500C>T c.439C>T (n.439C>T) c.935C>T (p.Ala312Val) c.737C>T (p.Ala246Val) | dbSNP |
| 3 | g.120633175G>C | CA354072707 | HGD | c.1160C>G (p.Ala387Gly) n.500C>G c.439C>G (n.439C>G) c.935C>G (p.Ala312Gly) c.737C>G (p.Ala246Gly) | |
| 3 | g.120633175G= | CA1397090708 | HGD | c.1160C= (p.Ala387=) n.500C= c.439C= (n.439C=) c.935C= (p.Ala312=) c.737C= (p.Ala246=) | |
| 3 | g.120633175G>T | CA354072705 | HGD | c.1160C>A (p.Ala387Glu) n.500C>A c.439C>A (n.439C>A) c.935C>A (p.Ala312Glu) c.737C>A (p.Ala246Glu) | |
| 3 | g.120633177_120633180del | CA2559961 | HGD | c.1157_1160del (p.Leu386HisfsTer18) n.497_500del c.436_439del (n.436_439del) c.932_935del (p.Leu311HisfsTer18) c.734_737del (p.Leu245HisfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120633176C>A | CA354072708 | HGD | c.1159G>T (p.Ala387Ser) n.499G>T c.438G>T (n.438G>T) c.934G>T (p.Ala312Ser) c.736G>T (p.Ala246Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.120633176C= | CA1397090709 | HGD | c.1159G= (p.Ala387=) n.499G= c.438G= (n.438G=) c.934G= (p.Ala312=) c.736G= (p.Ala246=) | |
| 3 | g.120633176C>G | CA354072709 | HGD | c.1159G>C (p.Ala387Pro) n.499G>C c.438G>C (n.438G>C) c.934G>C (p.Ala312Pro) c.736G>C (p.Ala246Pro) | |
| 3 | g.120633176C>T | CA354072710 | HGD | c.1159G>A (p.Ala387Thr) n.499G>A c.438G>A (n.438G>A) c.934G>A (p.Ala312Thr) c.736G>A (p.Ala246Thr) | dbSNP |
| 3 | g.120633177C>A | CA435225736 | HGD | c.1158G>T (p.Leu386=) n.498G>T c.437G>T (n.437G>T) c.933G>T (p.Leu311=) c.735G>T (p.Leu245=) | |
| 3 | g.120633177C>G | CA435225737 | HGD | c.1158G>C (p.Leu386=) n.498G>C c.437G>C (n.437G>C) c.933G>C (p.Leu311=) c.735G>C (p.Leu245=) | |
| 3 | g.120633177C>T | CA435225739 | HGD | c.1158G>A (p.Leu386=) n.498G>A c.437G>A (n.437G>A) c.933G>A (p.Leu311=) c.735G>A (p.Leu245=) | |
| 3 | g.120633178A= | CA1397090710 | HGD | c.1157T= (p.Leu386=) n.497T= c.436T= (n.436T=) c.932T= (p.Leu311=) c.734T= (p.Leu245=) | |
| 3 | g.120633178A>C | CA354072711 | HGD | c.1157T>G (p.Leu386Arg) n.497T>G c.436T>G (n.436T>G) c.932T>G (p.Leu311Arg) c.734T>G (p.Leu245Arg) | |
| 3 | g.120633178A>G | CA2559962 | HGD | c.1157T>C (p.Leu386Pro) n.497T>C c.436T>C (n.436T>C) c.932T>C (p.Leu311Pro) c.734T>C (p.Leu245Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120633178A>T | CA354072712 | HGD | c.1157T>A (p.Leu386Gln) n.497T>A c.436T>A (n.436T>A) c.932T>A (p.Leu311Gln) c.734T>A (p.Leu245Gln) | |
| 3 | g.120633179G>A | CA435225749 | HGD | c.1156C>T (p.Leu386=) n.496C>T c.435C>T (n.435C>T) c.931C>T (p.Leu311=) c.733C>T (p.Leu245=) | |
| 3 | g.120633179G>C | CA354072713 | HGD | c.1156C>G (p.Leu386Val) n.496C>G c.435C>G (n.435C>G) c.931C>G (p.Leu311Val) c.733C>G (p.Leu245Val) | gnomAD v4 |
| 3 | g.120633179G>T | CA354072714 | HGD | c.1156C>A (p.Leu386Met) n.496C>A c.435C>A (n.435C>A) c.931C>A (p.Leu311Met) c.733C>A (p.Leu245Met) | |
| 3 | g.120633180C>A | CA354072715 | HGD | c.1155G>T (p.Lys385Asn) n.495G>T c.434G>T (n.434G>T) c.930G>T (p.Lys310Asn) c.732G>T (p.Lys244Asn) | |
| 3 | g.120633180C>G | CA354072716 | HGD | c.1155G>C (p.Lys385Asn) n.495G>C c.434G>C (n.434G>C) c.930G>C (p.Lys310Asn) c.732G>C (p.Lys244Asn) | |
| 3 | g.120633180C>T | CA435225755 | HGD | c.1155G>A (p.Lys385=) n.495G>A c.434G>A (n.434G>A) c.930G>A (p.Lys310=) c.732G>A (p.Lys244=) | gnomAD v4 |
| 3 | g.120633181T>A | CA354072717 | HGD | c.1154A>T (p.Lys385Met) n.494A>T c.433A>T (n.433A>T) c.929A>T (p.Lys310Met) c.731A>T (p.Lys244Met) | |
| 3 | g.120633181T>C | CA354072718 | HGD | c.1154A>G (p.Lys385Arg) n.494A>G c.433A>G (n.433A>G) c.929A>G (p.Lys310Arg) c.731A>G (p.Lys244Arg) | dbSNP COSMIC |
| 3 | g.120633181T>G | CA2559963 | HGD | c.1154A>C (p.Lys385Thr) n.494A>C c.433A>C (n.433A>C) c.929A>C (p.Lys310Thr) c.731A>C (p.Lys244Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.120633181T= | CA1397090711 | HGD | c.1154A= (p.Lys385=) n.494A= c.433A= (n.433A=) c.929A= (p.Lys310=) c.731A= (p.Lys244=) | |
| 3 | g.120633182T>A | CA354072721 | HGD | c.1153A>T (p.Lys385Ter) n.493A>T c.432A>T (n.432A>T) c.928A>T (p.Lys310Ter) c.730A>T (p.Lys244Ter) | |
| 3 | g.120633182T>C | CA354072720 | HGD | c.1153A>G (p.Lys385Glu) n.493A>G c.432A>G (n.432A>G) c.928A>G (p.Lys310Glu) c.730A>G (p.Lys244Glu) | dbSNP |
| 3 | g.120633182T>G | CA354072719 | HGD | c.1153A>C (p.Lys385Gln) n.493A>C c.432A>C (n.432A>C) c.928A>C (p.Lys310Gln) c.730A>C (p.Lys244Gln) | |
| 3 | g.120633182T= | CA1397090712 | HGD | c.1153A= (p.Lys385=) n.493A= c.432A= (n.432A=) c.928A= (p.Lys310=) c.730A= (p.Lys244=) | |
| 3 | g.120633183G>A | CA2559964 | HGD | c.1152C>T (p.Val384=) n.492C>T c.431C>T (n.431C>T) c.927C>T (p.Val309=) c.729C>T (p.Val243=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120633183G>C | CA435225767 | HGD | c.1152C>G (p.Val384=) n.492C>G c.431C>G (n.431C>G) c.927C>G (p.Val309=) c.729C>G (p.Val243=) | |
| 3 | g.120633183G= | CA1397090713 | HGD | c.1152C= (p.Val384=) n.492C= c.431C= (n.431C=) c.927C= (p.Val309=) c.729C= (p.Val243=) | |
| 3 | g.120633183G>T | CA435225769 | HGD | c.1152C>A (p.Val384=) n.492C>A c.431C>A (n.431C>A) c.927C>A (p.Val309=) c.729C>A (p.Val243=) | |
| 3 | g.120633184A>C | CA354072722 | HGD | c.1151T>G (p.Val384Gly) n.491T>G c.430T>G (n.430T>G) c.926T>G (p.Val309Gly) c.728T>G (p.Val243Gly) | |
| 3 | g.120633184A>G | CA354072723 | HGD | c.1151T>C (p.Val384Ala) n.491T>C c.430T>C (n.430T>C) c.926T>C (p.Val309Ala) c.728T>C (p.Val243Ala) | dbSNP |
| 3 | g.120633184A>T | CA354072724 | HGD | c.1151T>A (p.Val384Asp) n.491T>A c.430T>A (n.430T>A) c.926T>A (p.Val309Asp) c.728T>A (p.Val243Asp) | |
| 3 | g.120633185C>A | CA354072725 | HGD | c.1150G>T (p.Val384Phe) n.490G>T c.429G>T (n.429G>T) c.925G>T (p.Val309Phe) c.727G>T (p.Val243Phe) | |
| 3 | g.120633185C>G | CA354072726 | HGD | c.1150G>C (p.Val384Leu) n.490G>C c.429G>C (n.429G>C) c.925G>C (p.Val309Leu) c.727G>C (p.Val243Leu) |