| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.218893264G>A | CA350592882 | WNT10A | c.1247G>A (p.Cys416Tyr) n.44G>A c.1196G>A (p.Cys399Tyr) c.1151G>A (p.Cys384Tyr) c.867G>A (p.Leu289=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.218893264G>C | CA350592886 | WNT10A | c.1247G>C (p.Cys416Ser) n.44G>C c.1196G>C (p.Cys399Ser) c.1151G>C (p.Cys384Ser) c.867G>C (p.Leu289=) | ClinVar gnomAD v4 |
| 2 | g.218893264G= | CA1328965674 | WNT10A | c.1247G= (p.Cys416=) n.44G= c.1196G= (p.Cys399=) c.1151G= (p.Cys384=) c.867G= (p.Leu289=) | |
| 2 | g.218893264G>T | CA350592888 | WNT10A | c.1247G>T (p.Cys416Phe) n.44G>T c.1196G>T (p.Cys399Phe) c.1151G>T (p.Cys384Phe) c.867G>T (p.Leu289=) | gnomAD v4 |
| 2 | g.218893265C>A | CA350592891 | WNT10A | c.1248C>A (p.Cys416Ter) n.45C>A c.1197C>A (p.Cys399Ter) c.1152C>A (p.Cys384Ter) c.868C>A (p.Gln290Lys) | gnomAD v4 |
| 2 | g.218893265C>G | CA350592894 | WNT10A | c.1248C>G (p.Cys416Trp) n.45C>G c.1197C>G (p.Cys399Trp) c.1152C>G (p.Cys384Trp) c.868C>G (p.Gln290Glu) | |
| 2 | g.218893265C>T | CA431234868 | WNT10A | c.1248C>T (p.Cys416=) n.45C>T c.1197C>T (p.Cys399=) c.1152C>T (p.Cys384=) c.868C>T (p.Gln290Ter) | gnomAD v4 |
| 2 | g.218893266A= | CA1328965678 | WNT10A | c.1249A= (p.Lys417=) n.46A= c.1198A= (p.Lys400=) c.1153A= (p.Lys385=) c.869A= (p.Gln290=) | |
| 2 | g.218893266A>C | CA350592897 | WNT10A | c.1249A>C (p.Lys417Gln) n.46A>C c.1198A>C (p.Lys400Gln) c.1153A>C (p.Lys385Gln) c.869A>C (p.Gln290Pro) | |
| 2 | g.218893266A>G | CA350592901 | WNT10A | c.1249A>G (p.Lys417Glu) n.46A>G c.1198A>G (p.Lys400Glu) c.1153A>G (p.Lys385Glu) c.869A>G (p.Gln290Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.218893266A>T | CA350592903 | WNT10A | c.1249A>T (p.Lys417Ter) n.46A>T c.1198A>T (p.Lys400Ter) c.1153A>T (p.Lys385Ter) c.869A>T (p.Gln290Leu) | |
| 2 | g.218893267del | CA2663174558 | WNT10A | c.1250del (p.Lys417SerfsTer21) n.47del c.1199del (p.Lys400SerfsTer21) c.1154del (p.Lys385SerfsTer21) c.870del (p.Val291Ter) | gnomAD v4 |
| 2 | g.218893267A>C | CA350592907 | WNT10A | c.1250A>C (p.Lys417Thr) n.47A>C c.1199A>C (p.Lys400Thr) c.1154A>C (p.Lys385Thr) c.870A>C (p.Gln290His) | |
| 2 | g.218893267A>G | CA350592905 | WNT10A | c.1250A>G (p.Lys417Arg) n.47A>G c.1199A>G (p.Lys400Arg) c.1154A>G (p.Lys385Arg) c.870A>G (p.Gln290=) | gnomAD v4 |
| 2 | g.218893267A>T | CA350592906 | WNT10A | c.1250A>T (p.Lys417Met) n.47A>T c.1199A>T (p.Lys400Met) c.1154A>T (p.Lys385Met) c.870A>T (p.Gln290His) | gnomAD v4 |
| 2 | g.218893268G>A | CA431234869 | WNT10A | c.1251G>A (p.Lys417=) n.47+1G>A c.1200G>A (p.Lys400=) c.1155G>A (p.Lys385=) c.871G>A (p.Val291Met) | ClinVar dbSNP gnomAD v4 |
| 2 | g.218893268G>C | CA350592910 | WNT10A | c.1251G>C (p.Lys417Asn) n.47+1G>C c.1200G>C (p.Lys400Asn) c.1155G>C (p.Lys385Asn) c.871G>C (p.Val291Leu) | |
| 2 | g.218893268G>T | CA350592913 | WNT10A | c.1251G>T (p.Lys417Asn) n.47+1G>T c.1200G>T (p.Lys400Asn) c.1155G>T (p.Lys385Asn) c.871G>T (p.Val291Leu) | gnomAD v4 |
| 2 | g.218893269T>A | CA65919453 | WNT10A | c.1252T>A (p.Ter418Arg) n.47+2T>A c.1201T>A (p.Ter401Arg) c.1156T>A (p.Ter386Arg) c.872T>A (p.Val291Glu) | dbSNP gnomAD v4 |
| 2 | g.218893269T>C | CA350592914 | WNT10A | c.1252T>C (p.Ter418Arg) n.47+2T>C c.1201T>C (p.Ter401Arg) c.1156T>C (p.Ter386Arg) c.872T>C (p.Val291Ala) | |
| 2 | g.218893269T>G | CA350592915 | WNT10A | c.1252T>G (p.Ter418Gly) n.47+2T>G c.1201T>G (p.Ter401Gly) c.1156T>G (p.Ter386Gly) c.872T>G (p.Val291Gly) | |
| 2 | g.218893269T= | CA1328965680 | WNT10A | c.1252T= (p.Ter418=) n.47+2T= c.1201T= (p.Ter401=) c.1156T= (p.Ter386=) c.872T= (p.Val291=) | |
| 2 | g.218893270G>A | CA431234870 | WNT10A | c.1253G>A (p.Ter418=) n.47+3G>A c.1202G>A (p.Ter401=) c.1157G>A (p.Ter386=) c.873G>A (p.Val291=) | gnomAD v4 |
| 2 | g.218893270G>C | CA350592920 | WNT10A | c.1253G>C (p.Ter418Ser) n.47+3G>C c.1202G>C (p.Ter401Ser) c.1157G>C (p.Ter386Ser) c.873G>C (p.Val291=) | |
| 2 | g.218893270G= | CA1328965683 | WNT10A | c.1253G= (p.Ter418=) n.47+3G= c.1202G= (p.Ter401=) c.1157G= (p.Ter386=) c.873G= (p.Val291=) | |
| 2 | g.218893270G>T | CA65919465 | WNT10A | c.1253G>T (p.Ter418Leu) n.47+3G>T c.1202G>T (p.Ter401Leu) c.1157G>T (p.Ter386Leu) c.873G>T (p.Val291=) | dbSNP gnomAD v4 |
| 2 | g.218893271A>C | CA350592931 | WNT10A | c.1254A>C (p.Ter418Cys) n.47+4A>C c.1203A>C (p.Ter401Cys) c.1158A>C (p.Ter386Cys) c.874A>C (p.Ser292Arg) | gnomAD v4 |
| 2 | g.218893271A>G | CA350592933 | WNT10A | c.1254A>G (p.Ter418Trp) n.47+4A>G c.1203A>G (p.Ter401Trp) c.1158A>G (p.Ter386Trp) c.874A>G (p.Ser292Gly) | |
| 2 | g.218893271A>T | CA350592936 | WNT10A | c.1254A>T (p.Ter418Cys) n.47+4A>T c.1203A>T (p.Ter401Cys) c.1158A>T (p.Ter386Cys) c.874A>T (p.Ser292Cys) | gnomAD v4 |
| 2 | g.218893272G>T | CA2663174559 | WNT10A | c.*1G>T (n.*1G>T) n.47+5G>T c.875G>T (p.Ser292Ile) | gnomAD v4 |
| 2 | g.218893273C>A | CA2663174560 | WNT10A | c.*2C>A (n.*2C>A) n.47+6C>A c.876C>A (p.Ser292Arg) | gnomAD v4 |
| 2 | g.218893273C= | CA1328965688 | WNT10A | c.*2C= (n.*2C=) n.47+6C= c.876C= (p.Ser292=) | |
| 2 | g.218893273C>G | CA539612128 | WNT10A | c.*2C>G (n.*2C>G) n.47+6C>G c.876C>G (p.Ser292Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.218893273C>T | CA1328965687 | WNT10A | c.*2C>T (n.*2C>T) n.47+6C>T c.876C>T (p.Ser292=) | dbSNP gnomAD v4 |
| 2 | g.218893274G>A | CA2577276402 | WNT10A | c.*3G>A (n.*3G>A) n.47+7G>A c.877G>A (p.Gly293Ser) | gnomAD v4 |
| 2 | g.218893274G>C | CA2663174561 | WNT10A | c.*3G>C (n.*3G>C) n.47+7G>C c.877G>C (p.Gly293Arg) | gnomAD v4 |
| 2 | g.218893274G= | CA1328965690 | WNT10A | c.*3G= (n.*3G=) n.47+7G= c.877G= (p.Gly293=) | |
| 2 | g.218893274G>T | CA2114130 | WNT10A | c.*3G>T (n.*3G>T) n.47+7G>T c.877G>T (p.Gly293Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.218893275G>A | CA539612129 | WNT10A | c.*4G>A (n.*4G>A) n.47+8G>A c.878G>A (p.Gly293Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.218893275G= | CA1328965691 | WNT10A | c.*4G= (n.*4G=) n.47+8G= c.878G= (p.Gly293=) | |
| 2 | g.218893275G>T | CA2663174562 | WNT10A | c.*4G>T (n.*4G>T) n.47+8G>T c.878G>T (p.Gly293Val) | gnomAD v4 |
| 2 | g.218893275_218893276delinsGC | CA1328965692 | WNT10A | c.*4_*5delinsGC (n.*4_*5delinsGC) n.47+8_47+9delinsGC c.878_879delinsGC (p.Gly293=) | |
| 2 | g.218893276C>A | CA2663174563 | WNT10A | c.*5C>A (n.*5C>A) n.47+9C>A c.879C>A (p.Gly293=) | gnomAD v4 |
| 2 | g.218893276C>T | CA2663174564 | WNT10A | c.*5C>T (n.*5C>T) n.47+9C>T c.879C>T (p.Gly293=) | gnomAD v4 |
| 2 | g.218893278del | CA1328965694 | WNT10A | c.*7del (n.*7del) n.47+11del c.881del (p.Pro294ArgfsTer?) | dbSNP |
| 2 | g.218893277C>A | CA2663174565 | WNT10A | c.*6C>A (n.*6C>A) n.47+10C>A c.880C>A (p.Pro294Thr) | gnomAD v4 |
| 2 | g.218893277C>T | CA2663174566 | WNT10A | c.*6C>T (n.*6C>T) n.47+10C>T c.880C>T (p.Pro294Ser) | gnomAD v4 |
| 2 | g.218893278C>A | CA2663174567 | WNT10A | c.*7C>A (n.*7C>A) n.47+11C>A c.881C>A (p.Pro294Gln) | gnomAD v4 |
| 2 | g.218893278C= | CA1328965695 | WNT10A | c.*7C= (n.*7C=) n.47+11C= c.881C= (p.Pro294=) | |
| 2 | g.218893278C>T | CA539612130 | WNT10A | c.*7C>T (n.*7C>T) n.47+11C>T c.881C>T (p.Pro294Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |