| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18599700_18599701delinsAG | CA2326433837 | CRLF1 | c.261_262delinsCT (p.Leu87=) n.513_514delinsCT c.195_196delinsCT (p.Leu65=) | |
| 19 | g.18599701del | CA783936145 | CRLF1 | c.261del (p.Ser88ProfsTer?) n.513del c.195del (p.Ser66ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599701G>A | CA506044652 | CRLF1 | c.261C>T (p.Leu87=) n.513C>T c.195C>T (p.Leu65=) | |
| 19 | g.18599701G>C | CA506044653 | CRLF1 | c.261C>G (p.Leu87=) n.513C>G c.195C>G (p.Leu65=) | |
| 19 | g.18599701G>T | CA506044654 | CRLF1 | c.261C>A (p.Leu87=) n.513C>A c.195C>A (p.Leu65=) | |
| 19 | g.18599702A>C | CA404852066 | CRLF1 | c.260T>G (p.Leu87Arg) n.512T>G c.194T>G (p.Leu65Arg) | |
| 19 | g.18599702A>G | CA404852067 | CRLF1 | c.260T>C (p.Leu87Pro) n.512T>C c.194T>C (p.Leu65Pro) | |
| 19 | g.18599702A>T | CA404852068 | CRLF1 | c.260T>A (p.Leu87His) n.512T>A c.194T>A (p.Leu65His) | |
| 19 | g.18599703G>A | CA404852069 | CRLF1 | c.259C>T (p.Leu87Phe) n.511C>T c.193C>T (p.Leu65Phe) | |
| 19 | g.18599703G>C | CA404852071 | CRLF1 | c.259C>G (p.Leu87Val) n.511C>G c.193C>G (p.Leu65Val) | |
| 19 | g.18599703G>T | CA404852070 | CRLF1 | c.259C>A (p.Leu87Ile) n.511C>A c.193C>A (p.Leu65Ile) | |
| 19 | g.18599704C>A | CA404852072 | CRLF1 | c.258G>T (p.Glu86Asp) n.510G>T c.192G>T (p.Glu64Asp) | gnomAD v4 |
| 19 | g.18599704C= | CA2326433838 | CRLF1 | c.258G= (p.Glu86=) n.510G= c.192G= (p.Glu64=) | |
| 19 | g.18599704C>G | CA404852073 | CRLF1 | c.258G>C (p.Glu86Asp) n.510G>C c.192G>C (p.Glu64Asp) | |
| 19 | g.18599704C>T | CA9314296 | CRLF1 | c.258G>A (p.Glu86=) n.510G>A c.192G>A (p.Glu64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599705T>A | CA404852074 | CRLF1 | c.257A>T (p.Glu86Val) n.509A>T c.191A>T (p.Glu64Val) | |
| 19 | g.18599705T>C | CA404852075 | CRLF1 | c.257A>G (p.Glu86Gly) n.509A>G c.191A>G (p.Glu64Gly) | |
| 19 | g.18599705T>G | CA404852076 | CRLF1 | c.257A>C (p.Glu86Ala) n.509A>C c.191A>C (p.Glu64Ala) | |
| 19 | g.18599706C>A | CA404852077 | CRLF1 | c.256G>T (p.Glu86Ter) n.508G>T c.190G>T (p.Glu64Ter) | gnomAD v4 |
| 19 | g.18599706C= | CA2326433839 | CRLF1 | c.256G= (p.Glu86=) n.508G= c.190G= (p.Glu64=) | |
| 19 | g.18599706C>G | CA404852078 | CRLF1 | c.256G>C (p.Glu86Gln) n.508G>C c.190G>C (p.Glu64Gln) | |
| 19 | g.18599706C>T | CA404852079 | CRLF1 | c.256G>A (p.Glu86Lys) n.508G>A c.190G>A (p.Glu64Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599707A>C | CA506044657 | CRLF1 | c.255T>G (p.Pro85=) n.507T>G c.189T>G (p.Pro63=) | |
| 19 | g.18599707A>G | CA506044655 | CRLF1 | c.255T>C (p.Pro85=) n.507T>C c.189T>C (p.Pro63=) | |
| 19 | g.18599707A>T | CA506044656 | CRLF1 | c.255T>A (p.Pro85=) n.507T>A c.189T>A (p.Pro63=) | |
| 19 | g.18599708G>A | CA404852080 | CRLF1 | c.254C>T (p.Pro85Leu) n.506C>T c.188C>T (p.Pro63Leu) | |
| 19 | g.18599708G>C | CA404852081 | CRLF1 | c.254C>G (p.Pro85Arg) n.506C>G c.188C>G (p.Pro63Arg) | |
| 19 | g.18599708G>T | CA404852082 | CRLF1 | c.254C>A (p.Pro85His) n.506C>A c.188C>A (p.Pro63His) | |
| 19 | g.18599712dup | CA2813827920 | CRLF1 | c.254dup (p.Glu86Ter) n.506dup c.188dup (p.Glu64Ter) | |
| 19 | g.18599709G>A | CA9314297 | CRLF1 | c.253C>T (p.Pro85Ser) n.505C>T c.187C>T (p.Pro63Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599709G>C | CA404852083 | CRLF1 | c.253C>G (p.Pro85Ala) n.505C>G c.187C>G (p.Pro63Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599709G= | CA2326433840 | CRLF1 | c.253C= (p.Pro85=) n.505C= c.187C= (p.Pro63=) | |
| 19 | g.18599709G>T | CA404852084 | CRLF1 | c.253C>A (p.Pro85Thr) n.505C>A c.187C>A (p.Pro63Thr) | |
| 19 | g.18599710G>A | CA506044658 | CRLF1 | c.252C>T (p.Pro84=) n.504C>T c.186C>T (p.Pro62=) | gnomAD v4 |
| 19 | g.18599710G>C | CA506044660 | CRLF1 | c.252C>G (p.Pro84=) n.504C>G c.186C>G (p.Pro62=) | |
| 19 | g.18599710G>T | CA506044659 | CRLF1 | c.252C>A (p.Pro84=) n.504C>A c.186C>A (p.Pro62=) | |
| 19 | g.18599711G>A | CA404852085 | CRLF1 | c.251C>T (p.Pro84Leu) n.503C>T c.185C>T (p.Pro62Leu) | gnomAD v4 |
| 19 | g.18599711G>C | CA404852086 | CRLF1 | c.251C>G (p.Pro84Arg) n.503C>G c.185C>G (p.Pro62Arg) | |
| 19 | g.18599711G= | CA2326433841 | CRLF1 | c.251C= (p.Pro84=) n.503C= c.185C= (p.Pro62=) | |
| 19 | g.18599711G>T | CA404852087 | CRLF1 | c.251C>A (p.Pro84His) n.503C>A c.185C>A (p.Pro62His) | dbSNP |
| 19 | g.18599712G>A | CA404852088 | CRLF1 | c.250C>T (p.Pro84Ser) n.502C>T c.184C>T (p.Pro62Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599712G>C | CA404852089 | CRLF1 | c.250C>G (p.Pro84Ala) n.502C>G c.184C>G (p.Pro62Ala) | |
| 19 | g.18599712G= | CA2326433842 | CRLF1 | c.250C= (p.Pro84=) n.502C= c.184C= (p.Pro62=) | |
| 19 | g.18599712G>T | CA404852090 | CRLF1 | c.250C>A (p.Pro84Thr) n.502C>A c.184C>A (p.Pro62Thr) | |
| 19 | g.18599713C>A | CA506044661 | CRLF1 | c.249G>T (p.Leu83=) n.501G>T c.183G>T (p.Leu61=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599713C= | CA2326433843 | CRLF1 | c.249G= (p.Leu83=) n.501G= c.183G= (p.Leu61=) | |
| 19 | g.18599713C>G | CA506044662 | CRLF1 | c.249G>C (p.Leu83=) n.501G>C c.183G>C (p.Leu61=) | |
| 19 | g.18599713C>T | CA9314298 | CRLF1 | c.249G>A (p.Leu83=) n.501G>A c.183G>A (p.Leu61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599714A= | CA2326433844 | CRLF1 | c.248T= (p.Leu83=) n.500T= c.182T= (p.Leu61=) | |
| 19 | g.18599714A>C | CA404852091 | CRLF1 | c.248T>G (p.Leu83Arg) n.500T>G c.182T>G (p.Leu61Arg) | |
| 19 | g.18599714A>G | CA9314299 | CRLF1 | c.248T>C (p.Leu83Pro) n.500T>C c.182T>C (p.Leu61Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599714A>T | CA404852092 | CRLF1 | c.248T>A (p.Leu83Gln) n.500T>A c.182T>A (p.Leu61Gln) | |
| 19 | g.18599715G>A | CA306262343 | CRLF1 | c.247C>T (p.Leu83=) n.499C>T c.181C>T (p.Leu61=) | dbSNP gnomAD v4 |
| 19 | g.18599715G>C | CA404852093 | CRLF1 | c.247C>G (p.Leu83Val) n.499C>G c.181C>G (p.Leu61Val) | gnomAD v4 |
| 19 | g.18599715G= | CA2326433845 | CRLF1 | c.247C= (p.Leu83=) n.499C= c.181C= (p.Leu61=) | |
| 19 | g.18599715G>T | CA404852094 | CRLF1 | c.247C>A (p.Leu83Met) n.499C>A c.181C>A (p.Leu61Met) | |
| 19 | g.18599716G>A | CA9314300 | CRLF1 | c.246C>T (p.Arg82=) n.498C>T c.180C>T (p.Arg60=) | dbSNP ExAC |
| 19 | g.18599716G>C | CA506044664 | CRLF1 | c.246C>G (p.Arg82=) n.498C>G c.180C>G (p.Arg60=) | |
| 19 | g.18599716G= | CA2326433846 | CRLF1 | c.246C= (p.Arg82=) n.498C= c.180C= (p.Arg60=) | |
| 19 | g.18599716G>T | CA306262344 | CRLF1 | c.246C>A (p.Arg82=) n.498C>A c.180C>A (p.Arg60=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599717C>A | CA404852096 | CRLF1 | c.245G>T (p.Arg82Leu) n.497G>T c.179G>T (p.Arg60Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599717C= | CA2326433847 | CRLF1 | c.245G= (p.Arg82=) n.497G= c.179G= (p.Arg60=) | |
| 19 | g.18599717C>G | CA404852095 | CRLF1 | c.245G>C (p.Arg82Pro) n.497G>C c.179G>C (p.Arg60Pro) | |
| 19 | g.18599717C>T | CA9314301 | CRLF1 | c.245G>A (p.Arg82His) n.497G>A c.179G>A (p.Arg60His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599718G>A | CA9314303 | CRLF1 | c.244C>T (p.Arg82Cys) n.496C>T c.178C>T (p.Arg60Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599718G>C | CA404852097 | CRLF1 | c.244C>G (p.Arg82Gly) n.496C>G c.178C>G (p.Arg60Gly) | |
| 19 | g.18599718G= | CA2326433848 | CRLF1 | c.244C= (p.Arg82=) n.496C= c.178C= (p.Arg60=) | |
| 19 | g.18599718G>T | CA9314302 | CRLF1 | c.244C>A (p.Arg82Ser) n.496C>A c.178C>A (p.Arg60Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599721_18599744dup | CA506044665 | CRLF1 | c.221_244dup (p.Arg81_Arg82insLeuTyrTrpThrLeuAsnGlyArg) n.473_496dup c.155_178dup (p.Arg59_Arg60insLeuTyrTrpThrLeuAsnGlyArg) | |
| 19 | g.18599719G>A | CA506044666 | CRLF1 | c.243C>T (p.Arg81=) n.495C>T c.177C>T (p.Arg59=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599719G>C | CA506044667 | CRLF1 | c.243C>G (p.Arg81=) n.495C>G c.177C>G (p.Arg59=) | |
| 19 | g.18599719G= | CA2326433849 | CRLF1 | c.243C= (p.Arg81=) n.495C= c.177C= (p.Arg59=) | |
| 19 | g.18599719G>T | CA506044669 | CRLF1 | c.243C>A (p.Arg81=) n.495C>A c.177C>A (p.Arg59=) | |
| 19 | g.18599720C>A | CA404852098 | CRLF1 | c.242G>T (p.Arg81Leu) n.494G>T c.176G>T (p.Arg59Leu) | |
| 19 | g.18599720C= | CA2326433850 | CRLF1 | c.242G= (p.Arg81=) n.494G= c.176G= (p.Arg59=) | |
| 19 | g.18599720C>G | CA404852099 | CRLF1 | c.242G>C (p.Arg81Pro) n.494G>C c.176G>C (p.Arg59Pro) | |
| 19 | g.18599720C>T | CA342060 | CRLF1 | c.242G>A (p.Arg81His) n.494G>A c.176G>A (p.Arg59His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599721G>A | CA404852100 | CRLF1 | c.241C>T (p.Arg81Cys) n.493C>T c.175C>T (p.Arg59Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599721G>C | CA404852101 | CRLF1 | c.241C>G (p.Arg81Gly) n.493C>G c.175C>G (p.Arg59Gly) | |
| 19 | g.18599721G= | CA2326433851 | CRLF1 | c.241C= (p.Arg81=) n.493C= c.175C= (p.Arg59=) | |
| 19 | g.18599721G>T | CA404852102 | CRLF1 | c.241C>A (p.Arg81Ser) n.493C>A c.175C>A (p.Arg59Ser) | |
| 19 | g.18599722C>A | CA506044671 | CRLF1 | c.240G>T (p.Gly80=) n.492G>T c.174G>T (p.Gly58=) | gnomAD v4 |
| 19 | g.18599722C>G | CA506044672 | CRLF1 | c.240G>C (p.Gly80=) n.492G>C c.174G>C (p.Gly58=) | |
| 19 | g.18599722C>T | CA506044674 | CRLF1 | c.240G>A (p.Gly80=) n.492G>A c.174G>A (p.Gly58=) | gnomAD v4 |
| 19 | g.18599723C>A | CA404852103 | CRLF1 | c.239G>T (p.Gly80Val) n.491G>T c.173G>T (p.Gly58Val) | gnomAD v4 |
| 19 | g.18599723C= | CA2326433852 | CRLF1 | c.239G= (p.Gly80=) n.491G= c.173G= (p.Gly58=) | |
| 19 | g.18599723C>G | CA404852104 | CRLF1 | c.239G>C (p.Gly80Ala) n.491G>C c.173G>C (p.Gly58Ala) | |
| 19 | g.18599723C>T | CA404852105 | CRLF1 | c.239G>A (p.Gly80Glu) n.491G>A c.173G>A (p.Gly58Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599724C>A | CA404852106 | CRLF1 | c.238G>T (p.Gly80Trp) n.490G>T c.172G>T (p.Gly58Trp) | gnomAD v4 |
| 19 | g.18599724C= | CA2326433853 | CRLF1 | c.238G= (p.Gly80=) n.490G= c.172G= (p.Gly58=) | |
| 19 | g.18599724C>G | CA404852107 | CRLF1 | c.238G>C (p.Gly80Arg) n.490G>C c.172G>C (p.Gly58Arg) | |
| 19 | g.18599724C>T | CA9314304 | CRLF1 | c.238G>A (p.Gly80Arg) n.490G>A c.172G>A (p.Gly58Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.18599725G>A | CA9314305 | CRLF1 | c.237C>T (p.Asn79=) n.489C>T c.171C>T (p.Asn57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599725G>C | CA404852109 | CRLF1 | c.237C>G (p.Asn79Lys) n.489C>G c.171C>G (p.Asn57Lys) | |
| 19 | g.18599725G= | CA2326433854 | CRLF1 | c.237C= (p.Asn79=) n.489C= c.171C= (p.Asn57=) | |
| 19 | g.18599725G>T | CA404852108 | CRLF1 | c.237C>A (p.Asn79Lys) n.489C>A c.171C>A (p.Asn57Lys) | dbSNP gnomAD v4 |
| 19 | g.18599726T>A | CA404852110 | CRLF1 | c.236A>T (p.Asn79Ile) n.488A>T c.170A>T (p.Asn57Ile) | |
| 19 | g.18599726T>C | CA404852111 | CRLF1 | c.236A>G (p.Asn79Ser) n.488A>G c.170A>G (p.Asn57Ser) | |
| 19 | g.18599726T>G | CA404852112 | CRLF1 | c.236A>C (p.Asn79Thr) n.488A>C c.170A>C (p.Asn57Thr) | |
| 19 | g.18599727T>A | CA404852113 | CRLF1 | c.235A>T (p.Asn79Tyr) n.487A>T c.169A>T (p.Asn57Tyr) | |
| 19 | g.18599727T>C | CA404852114 | CRLF1 | c.235A>G (p.Asn79Asp) n.487A>G c.169A>G (p.Asn57Asp) | |
| 19 | g.18599727T>G | CA404852115 | CRLF1 | c.235A>C (p.Asn79His) n.487A>C c.169A>C (p.Asn57His) | |
| 19 | g.18599728G>A | CA506044677 | CRLF1 | c.234C>T (p.Leu78=) n.486C>T c.168C>T (p.Leu56=) | dbSNP gnomAD v4 |
| 19 | g.18599728G>C | CA506044678 | CRLF1 | c.234C>G (p.Leu78=) n.486C>G c.168C>G (p.Leu56=) | |
| 19 | g.18599728G= | CA2326433855 | CRLF1 | c.234C= (p.Leu78=) n.486C= c.168C= (p.Leu56=) | |
| 19 | g.18599728G>T | CA9314306 | CRLF1 | c.234C>A (p.Leu78=) n.486C>A c.168C>A (p.Leu56=) | dbSNP ExAC |
| 19 | g.18599729A>C | CA404852116 | CRLF1 | c.233T>G (p.Leu78Arg) n.485T>G c.167T>G (p.Leu56Arg) | |
| 19 | g.18599729A>G | CA404852117 | CRLF1 | c.233T>C (p.Leu78Pro) n.485T>C c.167T>C (p.Leu56Pro) | |
| 19 | g.18599729A>T | CA404852118 | CRLF1 | c.233T>A (p.Leu78His) n.485T>A c.167T>A (p.Leu56His) | |
| 19 | g.18599730G>A | CA404852119 | CRLF1 | c.232C>T (p.Leu78Phe) n.484C>T c.166C>T (p.Leu56Phe) | gnomAD v4 |
| 19 | g.18599730G>C | CA9314307 | CRLF1 | c.232C>G (p.Leu78Val) n.484C>G c.166C>G (p.Leu56Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599730G= | CA2326433856 | CRLF1 | c.232C= (p.Leu78=) n.484C= c.166C= (p.Leu56=) | |
| 19 | g.18599730G>T | CA404852120 | CRLF1 | c.232C>A (p.Leu78Ile) n.484C>A c.166C>A (p.Leu56Ile) | |
| 19 | g.18599731G>A | CA506044682 | CRLF1 | c.231C>T (p.Thr77=) n.483C>T c.165C>T (p.Thr55=) | |
| 19 | g.18599731G>C | CA506044680 | CRLF1 | c.231C>G (p.Thr77=) n.483C>G c.165C>G (p.Thr55=) | |
| 19 | g.18599731G>T | CA506044681 | CRLF1 | c.231C>A (p.Thr77=) n.483C>A c.165C>A (p.Thr55=) | |
| 19 | g.18599732G>A | CA404852121 | CRLF1 | c.230C>T (p.Thr77Ile) n.482C>T c.164C>T (p.Thr55Ile) | gnomAD v4 |
| 19 | g.18599732G>C | CA404852123 | CRLF1 | c.230C>G (p.Thr77Ser) n.482C>G c.164C>G (p.Thr55Ser) | |
| 19 | g.18599732G>T | CA404852122 | CRLF1 | c.230C>A (p.Thr77Asn) n.482C>A c.164C>A (p.Thr55Asn) | |
| 19 | g.18599733T>A | CA404852124 | CRLF1 | c.229A>T (p.Thr77Ser) n.481A>T c.163A>T (p.Thr55Ser) | |
| 19 | g.18599733T>C | CA404852125 | CRLF1 | c.229A>G (p.Thr77Ala) n.481A>G c.163A>G (p.Thr55Ala) | gnomAD v4 |
| 19 | g.18599733T>G | CA404852126 | CRLF1 | c.229A>C (p.Thr77Pro) n.481A>C c.163A>C (p.Thr55Pro) | |
| 19 | g.18599734C>A | CA404852127 | CRLF1 | c.228G>T (p.Trp76Cys) n.480G>T c.162G>T (p.Trp54Cys) | |
| 19 | g.18599734C= | CA2326433857 | CRLF1 | c.228G= (p.Trp76=) n.480G= c.162G= (p.Trp54=) | |
| 19 | g.18599734C>G | CA404852128 | CRLF1 | c.228G>C (p.Trp76Cys) n.480G>C c.162G>C (p.Trp54Cys) | |
| 19 | g.18599734C>T | CA404852129 | CRLF1 | c.228G>A (p.Trp76Ter) n.480G>A c.162G>A (p.Trp54Ter) | dbSNP COSMIC |
| 19 | g.18599735C>A | CA404852130 | CRLF1 | c.227G>T (p.Trp76Leu) n.479G>T c.161G>T (p.Trp54Leu) | |
| 19 | g.18599735C>G | CA404852131 | CRLF1 | c.227G>C (p.Trp76Ser) n.479G>C c.161G>C (p.Trp54Ser) | |
| 19 | g.18599735C>T | CA404852132 | CRLF1 | c.227G>A (p.Trp76Ter) n.479G>A c.161G>A (p.Trp54Ter) | dbSNP |
| 19 | g.18599736A= | CA2326433858 | CRLF1 | c.226T= (p.Trp76=) n.478T= c.160T= (p.Trp54=) | |
| 19 | g.18599736A>C | CA253574 | CRLF1 | c.226T>G (p.Trp76Gly) n.478T>G c.160T>G (p.Trp54Gly) | ClinVar dbSNP |
| 19 | g.18599736A>G | CA404852134 | CRLF1 | c.226T>C (p.Trp76Arg) n.478T>C c.160T>C (p.Trp54Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599736A>T | CA404852133 | CRLF1 | c.226T>A (p.Trp76Arg) n.478T>A c.160T>A (p.Trp54Arg) | |
| 19 | g.18599737G>A | CA506044683 | CRLF1 | c.225C>T (p.Tyr75=) n.477C>T c.159C>T (p.Tyr53=) | |
| 19 | g.18599737G>C | CA404852135 | CRLF1 | c.225C>G (p.Tyr75Ter) n.477C>G c.159C>G (p.Tyr53Ter) | |
| 19 | g.18599737G>T | CA404852136 | CRLF1 | c.225C>A (p.Tyr75Ter) n.477C>A c.159C>A (p.Tyr53Ter) | |
| 19 | g.18599738T>A | CA404852137 | CRLF1 | c.224A>T (p.Tyr75Phe) n.476A>T c.158A>T (p.Tyr53Phe) | |
| 19 | g.18599738T>C | CA404852138 | CRLF1 | c.224A>G (p.Tyr75Cys) n.476A>G c.158A>G (p.Tyr53Cys) | gnomAD v4 |
| 19 | g.18599738T>G | CA404852139 | CRLF1 | c.224A>C (p.Tyr75Ser) n.476A>C c.158A>C (p.Tyr53Ser) | |
| 19 | g.18599739A= | CA2326433859 | CRLF1 | c.223T= (p.Tyr75=) n.475T= c.157T= (p.Tyr53=) | |
| 19 | g.18599739A>C | CA404852141 | CRLF1 | c.223T>G (p.Tyr75Asp) n.475T>G c.157T>G (p.Tyr53Asp) | |
| 19 | g.18599739A>G | CA9314308 | CRLF1 | c.223T>C (p.Tyr75His) n.475T>C c.157T>C (p.Tyr53His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599739A>T | CA404852140 | CRLF1 | c.223T>A (p.Tyr75Asn) n.475T>A c.157T>A (p.Tyr53Asn) | |
| 19 | g.18599740G>A | CA506044684 | CRLF1 | c.222C>T (p.Leu74=) n.474C>T c.156C>T (p.Leu52=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599740G>C | CA506044685 | CRLF1 | c.222C>G (p.Leu74=) n.474C>G c.156C>G (p.Leu52=) | |
| 19 | g.18599740G= | CA2326433860 | CRLF1 | c.222C= (p.Leu74=) n.474C= c.156C= (p.Leu52=) | |
| 19 | g.18599740G>T | CA506044686 | CRLF1 | c.222C>A (p.Leu74=) n.474C>A c.156C>A (p.Leu52=) | |
| 19 | g.18599741A= | CA2326433861 | CRLF1 | c.221T= (p.Leu74=) n.473T= c.155T= (p.Leu52=) | |
| 19 | g.18599741A>C | CA404852142 | CRLF1 | c.221T>G (p.Leu74Arg) n.473T>G c.155T>G (p.Leu52Arg) | |
| 19 | g.18599741A>G | CA404852143 | CRLF1 | c.221T>C (p.Leu74Pro) n.473T>C c.155T>C (p.Leu52Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599741A>T | CA404852144 | CRLF1 | c.221T>A (p.Leu74His) n.473T>A c.155T>A (p.Leu52His) | |
| 19 | g.18599742G>A | CA404852145 | CRLF1 | c.220C>T (p.Leu74Phe) n.472C>T c.154C>T (p.Leu52Phe) | gnomAD v4 |
| 19 | g.18599742G>C | CA404852146 | CRLF1 | c.220C>G (p.Leu74Val) n.472C>G c.154C>G (p.Leu52Val) | |
| 19 | g.18599742G>T | CA404852147 | CRLF1 | c.220C>A (p.Leu74Ile) n.472C>A c.154C>A (p.Leu52Ile) | gnomAD v4 |
| 19 | g.18599743G>A | CA506044687 | CRLF1 | c.219C>T (p.Gly73=) n.471C>T c.153C>T (p.Gly51=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599743G>C | CA506044688 | CRLF1 | c.219C>G (p.Gly73=) n.471C>G c.153C>G (p.Gly51=) | |
| 19 | g.18599743G= | CA2326433862 | CRLF1 | c.219C= (p.Gly73=) n.471C= c.153C= (p.Gly51=) | |
| 19 | g.18599743G>T | CA506044689 | CRLF1 | c.219C>A (p.Gly73=) n.471C>A c.153C>A (p.Gly51=) | |
| 19 | g.18599744C>A | CA404852148 | CRLF1 | c.218G>T (p.Gly73Val) n.470G>T c.152G>T (p.Gly51Val) | gnomAD v4 |
| 19 | g.18599744C>G | CA404852150 | CRLF1 | c.218G>C (p.Gly73Ala) n.470G>C c.152G>C (p.Gly51Ala) | |
| 19 | g.18599744C>T | CA404852149 | CRLF1 | c.218G>A (p.Gly73Asp) n.470G>A c.152G>A (p.Gly51Asp) | gnomAD v4 |
| 19 | g.18599745C>A | CA404852151 | CRLF1 | c.217G>T (p.Gly73Cys) n.469G>T c.151G>T (p.Gly51Cys) | gnomAD v4 |
| 19 | g.18599745C>G | CA404852152 | CRLF1 | c.217G>C (p.Gly73Arg) n.469G>C c.151G>C (p.Gly51Arg) | |
| 19 | g.18599745C>T | CA404852153 | CRLF1 | c.217G>A (p.Gly73Ser) n.469G>A c.151G>A (p.Gly51Ser) | gnomAD v4 |
| 19 | g.18599746C>A | CA404852154 | CRLF1 | c.216G>T (p.Glu72Asp) n.468G>T c.150G>T (p.Glu50Asp) | |
| 19 | g.18599746C= | CA2326433863 | CRLF1 | c.216G= (p.Glu72=) n.468G= c.150G= (p.Glu50=) | |
| 19 | g.18599746C>G | CA404852155 | CRLF1 | c.216G>C (p.Glu72Asp) n.468G>C c.150G>C (p.Glu50Asp) | |
| 19 | g.18599746C>T | CA506044690 | CRLF1 | c.216G>A (p.Glu72=) n.468G>A c.150G>A (p.Glu50=) | dbSNP gnomAD v4 |
| 19 | g.18599747T>A | CA404852156 | CRLF1 | c.215A>T (p.Glu72Val) n.467A>T c.149A>T (p.Glu50Val) | |
| 19 | g.18599747T>C | CA404852157 | CRLF1 | c.215A>G (p.Glu72Gly) n.467A>G c.149A>G (p.Glu50Gly) | |
| 19 | g.18599747T>G | CA404852158 | CRLF1 | c.215A>C (p.Glu72Ala) n.467A>C c.149A>C (p.Glu50Ala) | |
| 19 | g.18599748C>A | CA404852159 | CRLF1 | c.214G>T (p.Glu72Ter) n.466G>T c.148G>T (p.Glu50Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599748C= | CA2326433864 | CRLF1 | c.214G= (p.Glu72=) n.466G= c.148G= (p.Glu50=) | |
| 19 | g.18599748C>G | CA404852160 | CRLF1 | c.214G>C (p.Glu72Gln) n.466G>C c.148G>C (p.Glu50Gln) | gnomAD v4 COSMIC |
| 19 | g.18599748C>T | CA9314309 | CRLF1 | c.214G>A (p.Glu72Lys) n.466G>A c.148G>A (p.Glu50Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.18599749G>A | CA9314310 | CRLF1 | c.213C>T (p.Ala71=) n.465C>T c.147C>T (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599749G>C | CA9314311 | CRLF1 | c.213C>G (p.Ala71=) n.465C>G c.147C>G (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599749G= | CA2326433865 | CRLF1 | c.213C= (p.Ala71=) n.465C= c.147C= (p.Ala49=) | |
| 19 | g.18599749G>T | CA506044691 | CRLF1 | c.213C>A (p.Ala71=) n.465C>A c.147C>A (p.Ala49=) | |
| 19 | g.18599750G>A | CA404852161 | CRLF1 | c.212C>T (p.Ala71Val) n.464C>T c.146C>T (p.Ala49Val) | gnomAD v4 |
| 19 | g.18599750G>C | CA404852162 | CRLF1 | c.212C>G (p.Ala71Gly) n.464C>G c.146C>G (p.Ala49Gly) | gnomAD v4 |
| 19 | g.18599750G= | CA2326433866 | CRLF1 | c.212C= (p.Ala71=) n.464C= c.146C= (p.Ala49=) | |
| 19 | g.18599750G>T | CA306262402 | CRLF1 | c.212C>A (p.Ala71Asp) n.464C>A c.146C>A (p.Ala49Asp) | dbSNP |
| 19 | g.18599751C>A | CA404852163 | CRLF1 | c.211G>T (p.Ala71Ser) n.463G>T c.145G>T (p.Ala49Ser) | gnomAD v4 |
| 19 | g.18599751C= | CA2326433867 | CRLF1 | c.211G= (p.Ala71=) n.463G= c.145G= (p.Ala49=) | |
| 19 | g.18599751C>G | CA404852164 | CRLF1 | c.211G>C (p.Ala71Pro) n.463G>C c.145G>C (p.Ala49Pro) | |
| 19 | g.18599751C>T | CA9314312 | CRLF1 | c.211G>A (p.Ala71Thr) n.463G>A c.145G>A (p.Ala49Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599752G>A | CA9314313 | CRLF1 | c.210C>T (p.Thr70=) n.462C>T c.144C>T (p.Thr48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599752G>C | CA506044692 | CRLF1 | c.210C>G (p.Thr70=) n.462C>G c.144C>G (p.Thr48=) | |
| 19 | g.18599752G= | CA2326433868 | CRLF1 | c.210C= (p.Thr70=) n.462C= c.144C= (p.Thr48=) | |
| 19 | g.18599752G>T | CA506044693 | CRLF1 | c.210C>A (p.Thr70=) n.462C>A c.144C>A (p.Thr48=) | dbSNP gnomAD v4 |
| 19 | g.18599753G>A | CA404852167 | CRLF1 | c.209C>T (p.Thr70Ile) n.461C>T c.143C>T (p.Thr48Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599753G>C | CA404852165 | CRLF1 | c.209C>G (p.Thr70Ser) n.461C>G c.143C>G (p.Thr48Ser) | |
| 19 | g.18599753G= | CA2326433869 | CRLF1 | c.209C= (p.Thr70=) n.461C= c.143C= (p.Thr48=) | |
| 19 | g.18599753G>T | CA404852166 | CRLF1 | c.209C>A (p.Thr70Asn) n.461C>A c.143C>A (p.Thr48Asn) | |
| 19 | g.18599754T>A | CA404852168 | CRLF1 | c.208A>T (p.Thr70Ser) n.460A>T c.142A>T (p.Thr48Ser) | |
| 19 | g.18599754T>C | CA404852169 | CRLF1 | c.208A>G (p.Thr70Ala) n.460A>G c.142A>G (p.Thr48Ala) | |
| 19 | g.18599754T>G | CA404852170 | CRLF1 | c.208A>C (p.Thr70Pro) n.460A>C c.142A>C (p.Thr48Pro) | dbSNP |
| 19 | g.18599754T= | CA2326433870 | CRLF1 | c.208A= (p.Thr70=) n.460A= c.142A= (p.Thr48=) | |
| 19 | g.18599755G>A | CA506044694 | CRLF1 | c.207C>T (p.Ala69=) n.459C>T c.141C>T (p.Ala47=) | |
| 19 | g.18599755G>C | CA506044695 | CRLF1 | c.207C>G (p.Ala69=) n.459C>G c.141C>G (p.Ala47=) | |
| 19 | g.18599755G>T | CA506044696 | CRLF1 | c.207C>A (p.Ala69=) n.459C>A c.141C>A (p.Ala47=) | |
| 19 | g.18599756G>A | CA404852171 | CRLF1 | c.206C>T (p.Ala69Val) n.458C>T c.140C>T (p.Ala47Val) | gnomAD v4 |
| 19 | g.18599756G>C | CA404852172 | CRLF1 | c.206C>G (p.Ala69Gly) n.458C>G c.140C>G (p.Ala47Gly) | |
| 19 | g.18599756G>T | CA404852173 | CRLF1 | c.206C>A (p.Ala69Asp) n.458C>A c.140C>A (p.Ala47Asp) | gnomAD v4 |
| 19 | g.18599757C>A | CA404852174 | CRLF1 | c.205G>T (p.Ala69Ser) n.457G>T c.139G>T (p.Ala47Ser) | gnomAD v4 |
| 19 | g.18599757C= | CA2326433871 | CRLF1 | c.205G= (p.Ala69=) n.457G= c.139G= (p.Ala47=) | |
| 19 | g.18599757C>G | CA404852176 | CRLF1 | c.205G>C (p.Ala69Pro) n.457G>C c.139G>C (p.Ala47Pro) | dbSNP |
| 19 | g.18599757C>T | CA404852175 | CRLF1 | c.205G>A (p.Ala69Thr) n.457G>A c.139G>A (p.Ala47Thr) | dbSNP |
| 19 | g.18599758T>A | CA506044697 | CRLF1 | c.204A>T (p.Gly68=) n.456A>T c.138A>T (p.Gly46=) | |
| 19 | g.18599758T>C | CA506044699 | CRLF1 | c.204A>G (p.Gly68=) n.456A>G c.138A>G (p.Gly46=) | |
| 19 | g.18599758T>G | CA506044698 | CRLF1 | c.204A>C (p.Gly68=) n.456A>C c.138A>C (p.Gly46=) | |
| 19 | g.18599759C>A | CA404852177 | CRLF1 | c.203G>T (p.Gly68Val) n.455G>T c.137G>T (p.Gly46Val) | gnomAD v4 |
| 19 | g.18599759C= | CA2326433872 | CRLF1 | c.203G= (p.Gly68=) n.455G= c.137G= (p.Gly46=) | |
| 19 | g.18599759C>G | CA404852178 | CRLF1 | c.203G>C (p.Gly68Ala) n.455G>C c.137G>C (p.Gly46Ala) | |
| 19 | g.18599759C>T | CA404852179 | CRLF1 | c.203G>A (p.Gly68Glu) n.455G>A c.137G>A (p.Gly46Glu) | dbSNP gnomAD v4 |
| 19 | g.18599760C>A | CA404852180 | CRLF1 | c.202G>T (p.Gly68Ter) n.454G>T c.136G>T (p.Gly46Ter) | gnomAD v4 |
| 19 | g.18599760C>G | CA404852181 | CRLF1 | c.202G>C (p.Gly68Arg) n.454G>C c.136G>C (p.Gly46Arg) | |
| 19 | g.18599760C>T | CA404852182 | CRLF1 | c.202G>A (p.Gly68Arg) n.454G>A c.136G>A (p.Gly46Arg) | |
| 19 | g.18599761T>A | CA506044700 | CRLF1 | c.201A>T (p.Pro67=) n.453A>T c.135A>T (p.Pro45=) | |
| 19 | g.18599761T>C | CA506044701 | CRLF1 | c.201A>G (p.Pro67=) n.453A>G c.135A>G (p.Pro45=) | dbSNP |
| 19 | g.18599761T>G | CA506044702 | CRLF1 | c.201A>C (p.Pro67=) n.453A>C c.135A>C (p.Pro45=) | |
| 19 | g.18599761T= | CA2326433873 | CRLF1 | c.201A= (p.Pro67=) n.453A= c.135A= (p.Pro45=) | |
| 19 | g.18599762G>A | CA404852183 | CRLF1 | c.200C>T (p.Pro67Leu) n.452C>T c.134C>T (p.Pro45Leu) | |
| 19 | g.18599762G>C | CA404852184 | CRLF1 | c.200C>G (p.Pro67Arg) n.452C>G c.134C>G (p.Pro45Arg) | |
| 19 | g.18599762G>T | CA404852185 | CRLF1 | c.200C>A (p.Pro67Gln) n.452C>A c.134C>A (p.Pro45Gln) | gnomAD v4 |
| 19 | g.18599763G>A | CA404852186 | CRLF1 | c.199C>T (p.Pro67Ser) n.451C>T c.133C>T (p.Pro45Ser) | |
| 19 | g.18599763G>C | CA404852187 | CRLF1 | c.199C>G (p.Pro67Ala) n.451C>G c.133C>G (p.Pro45Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599763G= | CA2326433874 | CRLF1 | c.199C= (p.Pro67=) n.451C= c.133C= (p.Pro45=) | |
| 19 | g.18599763G>T | CA404852188 | CRLF1 | c.199C>A (p.Pro67Thr) n.451C>A c.133C>A (p.Pro45Thr) | |
| 19 | g.18599763_18599764insCGGCGAAGGCC | CA2583603782 | CRLF1 | c.198_199insGGCCTTCGCCG (p.Pro67GlyfsTer?) n.450_451insGGCCTTCGCCG c.132_133insGGCCTTCGCCG (p.Pro45GlyfsTer?) | gnomAD v4 |
| 19 | g.18599764T>A | CA506044703 | CRLF1 | c.198A>T (p.Pro66=) n.450A>T c.132A>T (p.Pro44=) | |
| 19 | g.18599764T>C | CA506044704 | CRLF1 | c.198A>G (p.Pro66=) n.450A>G c.132A>G (p.Pro44=) | |
| 19 | g.18599764T>G | CA506044705 | CRLF1 | c.198A>C (p.Pro66=) n.450A>C c.132A>C (p.Pro44=) | dbSNP |
| 19 | g.18599764T= | CA2326433875 | CRLF1 | c.198A= (p.Pro66=) n.450A= c.132A= (p.Pro44=) | |
| 19 | g.18599765G>A | CA404852189 | CRLF1 | c.197C>T (p.Pro66Leu) n.449C>T c.131C>T (p.Pro44Leu) | gnomAD v4 |
| 19 | g.18599765G>C | CA404852191 | CRLF1 | c.197C>G (p.Pro66Arg) n.449C>G c.131C>G (p.Pro44Arg) | |
| 19 | g.18599765G= | CA2326433876 | CRLF1 | c.197C= (p.Pro66=) n.449C= c.131C= (p.Pro44=) | |
| 19 | g.18599765G>T | CA404852190 | CRLF1 | c.197C>A (p.Pro66Gln) n.449C>A c.131C>A (p.Pro44Gln) | dbSNP |
| 19 | g.18599766G>A | CA404852192 | CRLF1 | c.196C>T (p.Pro66Ser) n.448C>T c.130C>T (p.Pro44Ser) | |
| 19 | g.18599766G>C | CA404852193 | CRLF1 | c.196C>G (p.Pro66Ala) n.448C>G c.130C>G (p.Pro44Ala) | |
| 19 | g.18599766G>T | CA404852194 | CRLF1 | c.196C>A (p.Pro66Thr) n.448C>A c.130C>A (p.Pro44Thr) | |
| 19 | g.18599767G>A | CA506044706 | CRLF1 | c.195C>T (p.Asp65=) n.447C>T c.129C>T (p.Asp43=) | |
| 19 | g.18599767G>C | CA404852195 | CRLF1 | c.195C>G (p.Asp65Glu) n.447C>G c.129C>G (p.Asp43Glu) | |
| 19 | g.18599767G= | CA2326433877 | CRLF1 | c.195C= (p.Asp65=) n.447C= c.129C= (p.Asp43=) | |
| 19 | g.18599767G>T | CA9314314 | CRLF1 | c.195C>A (p.Asp65Glu) n.447C>A c.129C>A (p.Asp43Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599768T>A | CA404852198 | CRLF1 | c.194A>T (p.Asp65Val) n.446A>T c.128A>T (p.Asp43Val) | |
| 19 | g.18599768T>C | CA404852197 | CRLF1 | c.194A>G (p.Asp65Gly) n.446A>G c.128A>G (p.Asp43Gly) | |
| 19 | g.18599768T>G | CA404852196 | CRLF1 | c.194A>C (p.Asp65Ala) n.446A>C c.128A>C (p.Asp43Ala) | dbSNP |
| 19 | g.18599768T= | CA2326433878 | CRLF1 | c.194A= (p.Asp65=) n.446A= c.128A= (p.Asp43=) | |
| 19 | g.18599769C>A | CA404852199 | CRLF1 | c.193G>T (p.Asp65Tyr) n.445G>T c.127G>T (p.Asp43Tyr) | gnomAD v4 |
| 19 | g.18599769C>G | CA404852200 | CRLF1 | c.193G>C (p.Asp65His) n.445G>C c.127G>C (p.Asp43His) | dbSNP gnomAD v4 |
| 19 | g.18599769C>T | CA404852201 | CRLF1 | c.193G>A (p.Asp65Asn) n.445G>A c.127G>A (p.Asp43Asn) | gnomAD v4 |
| 19 | g.18599770T>A | CA506044707 | CRLF1 | c.192A>T (p.Gly64=) n.444A>T c.126A>T (p.Gly42=) | |
| 19 | g.18599770T>C | CA506044708 | CRLF1 | c.192A>G (p.Gly64=) n.444A>G c.126A>G (p.Gly42=) | gnomAD v4 |
| 19 | g.18599770T>G | CA306262407 | CRLF1 | c.192A>C (p.Gly64=) n.444A>C c.126A>C (p.Gly42=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599770T= | CA2326433879 | CRLF1 | c.192A= (p.Gly64=) n.444A= c.126A= (p.Gly42=) | |
| 19 | g.18599771C>A | CA404852202 | CRLF1 | c.191G>T (p.Gly64Val) n.443G>T c.125G>T (p.Gly42Val) | |
| 19 | g.18599771C= | CA2326433880 | CRLF1 | c.191G= (p.Gly64=) n.443G= c.125G= (p.Gly42=) | |
| 19 | g.18599771C>G | CA404852203 | CRLF1 | c.191G>C (p.Gly64Ala) n.443G>C c.125G>C (p.Gly42Ala) | gnomAD v4 |
| 19 | g.18599771C>T | CA404852204 | CRLF1 | c.191G>A (p.Gly64Glu) n.443G>A c.125G>A (p.Gly42Glu) | dbSNP |
| 19 | g.18599772C>A | CA404852205 | CRLF1 | c.190G>T (p.Gly64Ter) n.442G>T c.124G>T (p.Gly42Ter) | gnomAD v4 |
| 19 | g.18599772C= | CA2326433881 | CRLF1 | c.190G= (p.Gly64=) n.442G= c.124G= (p.Gly42=) | |
| 19 | g.18599772C>G | CA404852206 | CRLF1 | c.190G>C (p.Gly64Arg) n.442G>C c.124G>C (p.Gly42Arg) | |
| 19 | g.18599772C>T | CA9314315 | CRLF1 | c.190G>A (p.Gly64Arg) n.442G>A c.124G>A (p.Gly42Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599773G>A | CA506044709 | CRLF1 | c.189C>T (p.His63=) n.441C>T c.123C>T (p.His41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599773G>C | CA404852207 | CRLF1 | c.189C>G (p.His63Gln) n.441C>G c.123C>G (p.His41Gln) | |
| 19 | g.18599773G= | CA2326433882 | CRLF1 | c.189C= (p.His63=) n.441C= c.123C= (p.His41=) | |
| 19 | g.18599773G>T | CA404852208 | CRLF1 | c.189C>A (p.His63Gln) n.441C>A c.123C>A (p.His41Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599774T>A | CA404852209 | CRLF1 | c.188A>T (p.His63Leu) n.440A>T c.122A>T (p.His41Leu) | |
| 19 | g.18599774T>C | CA404852210 | CRLF1 | c.188A>G (p.His63Arg) n.440A>G c.122A>G (p.His41Arg) | |
| 19 | g.18599774T>G | CA404852211 | CRLF1 | c.188A>C (p.His63Pro) n.440A>C c.122A>C (p.His41Pro) | |
| 19 | g.18599775G>A | CA404852212 | CRLF1 | c.187C>T (p.His63Tyr) n.439C>T c.121C>T (p.His41Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599775G>C | CA404852213 | CRLF1 | c.187C>G (p.His63Asp) n.439C>G c.121C>G (p.His41Asp) | |
| 19 | g.18599775G= | CA2326433883 | CRLF1 | c.187C= (p.His63=) n.439C= c.121C= (p.His41=) | |
| 19 | g.18599775G>T | CA404852214 | CRLF1 | c.187C>A (p.His63Asn) n.439C>A c.121C>A (p.His41Asn) | |
| 19 | g.18599776C>A | CA506044710 | CRLF1 | c.186G>T (p.Val62=) n.438G>T c.120G>T (p.Val40=) | gnomAD v4 |
| 19 | g.18599776C= | CA2326433884 | CRLF1 | c.186G= (p.Val62=) n.438G= c.120G= (p.Val40=) | |
| 19 | g.18599776C>G | CA506044711 | CRLF1 | c.186G>C (p.Val62=) n.438G>C c.120G>C (p.Val40=) | |
| 19 | g.18599776C>T | CA506044712 | CRLF1 | c.186G>A (p.Val62=) n.438G>A c.120G>A (p.Val40=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18599777A= | CA2326433885 | CRLF1 | c.185T= (p.Val62=) n.437T= c.119T= (p.Val40=) | |
| 19 | g.18599777A>C | CA404852215 | CRLF1 | c.185T>G (p.Val62Gly) n.437T>G c.119T>G (p.Val40Gly) | dbSNP |
| 19 | g.18599777A>G | CA9314316 | CRLF1 | c.185T>C (p.Val62Ala) n.437T>C c.119T>C (p.Val40Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599777A>T | CA404852216 | CRLF1 | c.185T>A (p.Val62Glu) n.437T>A c.119T>A (p.Val40Glu) | |
| 19 | g.18599778C>A | CA404852217 | CRLF1 | c.184G>T (p.Val62Leu) n.436G>T c.118G>T (p.Val40Leu) | |
| 19 | g.18599778C>G | CA404852219 | CRLF1 | c.184G>C (p.Val62Leu) n.436G>C c.118G>C (p.Val40Leu) | |
| 19 | g.18599778C>T | CA404852218 | CRLF1 | c.184G>A (p.Val62Met) n.436G>A c.118G>A (p.Val40Met) | gnomAD v4 |
| 19 | g.18599778_18599779insCACC | CA2583603783 | CRLF1 | c.184_185insGTGG (p.Val62GlyfsTer26) n.436_437insGTGG c.118_119insGTGG (p.Val40GlyfsTer26) | gnomAD v4 |
| 19 | g.18599779T>A | CA506044714 | CRLF1 | c.183A>T (p.Ser61=) n.435A>T c.117A>T (p.Ser39=) | gnomAD v4 |
| 19 | g.18599779T>C | CA506044715 | CRLF1 | c.183A>G (p.Ser61=) n.435A>G c.117A>G (p.Ser39=) | gnomAD v4 |
| 19 | g.18599779T>G | CA506044713 | CRLF1 | c.183A>C (p.Ser61=) n.435A>C c.117A>C (p.Ser39=) | |
| 19 | g.18599780G>A | CA404852220 | CRLF1 | c.182C>T (p.Ser61Leu) n.434C>T c.116C>T (p.Ser39Leu) | |
| 19 | g.18599780G>C | CA404852221 | CRLF1 | c.182C>G (p.Ser61Ter) n.434C>G c.116C>G (p.Ser39Ter) | gnomAD v4 |
| 19 | g.18599780G>T | CA404852222 | CRLF1 | c.182C>A (p.Ser61Ter) n.434C>A c.116C>A (p.Ser39Ter) | |
| 19 | g.18599780_18599781insCCAAC | CA2583603784 | CRLF1 | c.181_182insGTTGG (p.Ser61CysfsTer?) n.433_434insGTTGG c.115_116insGTTGG (p.Ser39CysfsTer?) | gnomAD v4 |
| 19 | g.18599781A>C | CA404852223 | CRLF1 | c.181T>G (p.Ser61Ala) n.433T>G c.115T>G (p.Ser39Ala) | |
| 19 | g.18599781A>G | CA404852224 | CRLF1 | c.181T>C (p.Ser61Pro) n.433T>C c.115T>C (p.Ser39Pro) | |
| 19 | g.18599781A>T | CA404852225 | CRLF1 | c.181T>A (p.Ser61Thr) n.433T>A c.115T>A (p.Ser39Thr) | |
| 19 | g.18599782G>A | CA506044716 | CRLF1 | c.180C>T (p.Cys60=) n.432C>T c.114C>T (p.Cys38=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599782G>C | CA404852227 | CRLF1 | c.180C>G (p.Cys60Trp) n.432C>G c.114C>G (p.Cys38Trp) | COSMIC |
| 19 | g.18599782G= | CA2326433886 | CRLF1 | c.180C= (p.Cys60=) n.432C= c.114C= (p.Cys38=) | |
| 19 | g.18599782G>T | CA404852226 | CRLF1 | c.180C>A (p.Cys60Ter) n.432C>A c.114C>A (p.Cys38Ter) | gnomAD v4 |
| 19 | g.18599783C>A | CA404852228 | CRLF1 | c.179G>T (p.Cys60Phe) n.431G>T c.113G>T (p.Cys38Phe) | gnomAD v4 |
| 19 | g.18599783C>G | CA404852229 | CRLF1 | c.179G>C (p.Cys60Ser) n.431G>C c.113G>C (p.Cys38Ser) | |
| 19 | g.18599783C>T | CA404852230 | CRLF1 | c.179G>A (p.Cys60Tyr) n.431G>A c.113G>A (p.Cys38Tyr) | gnomAD v4 |
| 19 | g.18599784A= | CA2326433887 | CRLF1 | c.178T= (p.Cys60=) n.430T= c.112T= (p.Cys38=) | |
| 19 | g.18599784A>C | CA404852231 | CRLF1 | c.178T>G (p.Cys60Gly) n.430T>G c.112T>G (p.Cys38Gly) | dbSNP |
| 19 | g.18599784A>G | CA404852232 | CRLF1 | c.178T>C (p.Cys60Arg) n.430T>C c.112T>C (p.Cys38Arg) | gnomAD v4 |
| 19 | g.18599784A>T | CA404852233 | CRLF1 | c.178T>A (p.Cys60Ser) n.430T>A c.112T>A (p.Cys38Ser) | |
| 19 | g.18599785G>A | CA506044717 | CRLF1 | c.177C>T (p.Thr59=) n.429C>T c.111C>T (p.Thr37=) | gnomAD v4 |
| 19 | g.18599785G>C | CA506044718 | CRLF1 | c.177C>G (p.Thr59=) n.429C>G c.111C>G (p.Thr37=) | |
| 19 | g.18599785G>T | CA506044719 | CRLF1 | c.177C>A (p.Thr59=) n.429C>A c.111C>A (p.Thr37=) | gnomAD v4 |
| 19 | g.18599786G>A | CA404852236 | CRLF1 | c.176C>T (p.Thr59Ile) n.428C>T c.110C>T (p.Thr37Ile) | dbSNP gnomAD v4 |
| 19 | g.18599786G>C | CA404852234 | CRLF1 | c.176C>G (p.Thr59Ser) n.428C>G c.110C>G (p.Thr37Ser) | |
| 19 | g.18599786G= | CA2326433888 | CRLF1 | c.176C= (p.Thr59=) n.428C= c.110C= (p.Thr37=) | |
| 19 | g.18599786G>T | CA404852235 | CRLF1 | c.176C>A (p.Thr59Asn) n.428C>A c.110C>A (p.Thr37Asn) | gnomAD v4 |
| 19 | g.18599787T>A | CA404852237 | CRLF1 | c.175A>T (p.Thr59Ser) n.427A>T c.109A>T (p.Thr37Ser) | |
| 19 | g.18599787T>C | CA404852238 | CRLF1 | c.175A>G (p.Thr59Ala) n.427A>G c.109A>G (p.Thr37Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599787T>G | CA404852239 | CRLF1 | c.175A>C (p.Thr59Pro) n.427A>C c.109A>C (p.Thr37Pro) | dbSNP |
| 19 | g.18599787T= | CA2326433889 | CRLF1 | c.175A= (p.Thr59=) n.427A= c.109A= (p.Thr37=) | |
| 19 | g.18599787_18599790delinsTGGC | CA2326433890 | CRLF1 | c.172_175delinsGCCA (p.Ala58=) n.424_427delinsGCCA c.106_109delinsGCCA (p.Ala36=) | |
| 19 | g.18599788G>A | CA506044720 | CRLF1 | c.174C>T (p.Ala58=) n.426C>T c.108C>T (p.Ala36=) | dbSNP gnomAD v4 |
| 19 | g.18599788G>C | CA506044721 | CRLF1 | c.174C>G (p.Ala58=) n.426C>G c.108C>G (p.Ala36=) | |
| 19 | g.18599788G= | CA2326433891 | CRLF1 | c.174C= (p.Ala58=) n.426C= c.108C= (p.Ala36=) | |
| 19 | g.18599788G>T | CA506044722 | CRLF1 | c.174C>A (p.Ala58=) n.426C>A c.108C>A (p.Ala36=) | |
| 19 | g.18599788_18599790del | CA2326433892 | CRLF1 | c.172_174del (p.Ala58del) n.424_426del c.106_108del (p.Ala36del) | dbSNP |
| 19 | g.18599789G>A | CA404852240 | CRLF1 | c.173C>T (p.Ala58Val) n.425C>T c.107C>T (p.Ala36Val) | gnomAD v4 |
| 19 | g.18599789G>C | CA404852241 | CRLF1 | c.173C>G (p.Ala58Gly) n.425C>G c.107C>G (p.Ala36Gly) | |
| 19 | g.18599789G>T | CA404852242 | CRLF1 | c.173C>A (p.Ala58Asp) n.425C>A c.107C>A (p.Ala36Asp) | gnomAD v4 COSMIC |
| 19 | g.18599790C>A | CA404852243 | CRLF1 | c.172G>T (p.Ala58Ser) n.424G>T c.106G>T (p.Ala36Ser) | |
| 19 | g.18599790C= | CA2326433893 | CRLF1 | c.172G= (p.Ala58=) n.424G= c.106G= (p.Ala36=) | |
| 19 | g.18599790C>G | CA9314317 | CRLF1 | c.172G>C (p.Ala58Pro) n.424G>C c.106G>C (p.Ala36Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599790C>T | CA404852244 | CRLF1 | c.172G>A (p.Ala58Thr) n.424G>A c.106G>A (p.Ala36Thr) | gnomAD v4 |
| 19 | g.18599791C>A | CA506044723 | CRLF1 | c.171G>T (p.Leu57=) n.423G>T c.105G>T (p.Leu35=) | gnomAD v4 |
| 19 | g.18599791C= | CA2326433894 | CRLF1 | c.171G= (p.Leu57=) n.423G= c.105G= (p.Leu35=) | |
| 19 | g.18599791C>G | CA506044724 | CRLF1 | c.171G>C (p.Leu57=) n.423G>C c.105G>C (p.Leu35=) | gnomAD v4 |
| 19 | g.18599791C>T | CA9314318 | CRLF1 | c.171G>A (p.Leu57=) n.423G>A c.105G>A (p.Leu35=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599792del | CA2576724795 | CRLF1 | c.170del (p.Leu57ArgfsTer?) n.422del c.104del (p.Leu35ArgfsTer?) | |
| 19 | g.18599792A= | CA2326433895 | CRLF1 | c.170T= (p.Leu57=) n.422T= c.104T= (p.Leu35=) | |
| 19 | g.18599792A>C | CA404852245 | CRLF1 | c.170T>G (p.Leu57Arg) n.422T>G c.104T>G (p.Leu35Arg) | |
| 19 | g.18599792A>G | CA404852246 | CRLF1 | c.170T>C (p.Leu57Pro) n.422T>C c.104T>C (p.Leu35Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599792A>T | CA404852247 | CRLF1 | c.170T>A (p.Leu57Gln) n.422T>A c.104T>A (p.Leu35Gln) | gnomAD v4 |
| 19 | g.18599793G>A | CA9314319 | CRLF1 | c.169C>T (p.Leu57=) n.421C>T c.103C>T (p.Leu35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18599793G>C | CA404852249 | CRLF1 | c.169C>G (p.Leu57Val) n.421C>G c.103C>G (p.Leu35Val) | |
| 19 | g.18599793G= | CA2326433896 | CRLF1 | c.169C= (p.Leu57=) n.421C= c.103C= (p.Leu35=) | |
| 19 | g.18599793G>T | CA404852248 | CRLF1 | c.169C>A (p.Leu57Met) n.421C>A c.103C>A (p.Leu35Met) | |
| 19 | g.18599794C>A | CA506044725 | CRLF1 | c.168G>T (p.Leu56=) n.420G>T c.102G>T (p.Leu34=) | gnomAD v4 |
| 19 | g.18599794C>G | CA506044726 | CRLF1 | c.168G>C (p.Leu56=) n.420G>C c.102G>C (p.Leu34=) | |
| 19 | g.18599794C>T | CA506044727 | CRLF1 | c.168G>A (p.Leu56=) n.420G>A c.102G>A (p.Leu34=) | gnomAD v4 |
| 19 | g.18599795A= | CA2326433897 | CRLF1 | c.167T= (p.Leu56=) n.419T= c.101T= (p.Leu34=) | |
| 19 | g.18599795A>C | CA404852250 | CRLF1 | c.167T>G (p.Leu56Arg) n.419T>G c.101T>G (p.Leu34Arg) | |
| 19 | g.18599795A>G | CA404852251 | CRLF1 | c.167T>C (p.Leu56Pro) n.419T>C c.101T>C (p.Leu34Pro) | ClinVar gnomAD v4 |
| 19 | g.18599795A>T | CA404852252 | CRLF1 | c.167T>A (p.Leu56Gln) n.419T>A c.101T>A (p.Leu34Gln) | gnomAD v4 |
| 19 | g.18599796G>A | CA506044728 | CRLF1 | c.166C>T (p.Leu56=) n.418C>T c.100C>T (p.Leu34=) | |
| 19 | g.18599796G>C | CA404852253 | CRLF1 | c.166C>G (p.Leu56Val) n.418C>G c.100C>G (p.Leu34Val) | |
| 19 | g.18599796G>T | CA404852254 | CRLF1 | c.166C>A (p.Leu56Met) n.418C>A c.100C>A (p.Leu34Met) | gnomAD v4 |
| 19 | g.18599798dup | CA306262425 | CRLF1 | c.166dup (p.Leu56ProfsTer?) n.418dup c.100dup (p.Leu34ProfsTer?) | dbSNP |
| 19 | g.18599797G>A | CA506044729 | CRLF1 | c.165C>T (p.Ser55=) n.417C>T c.99C>T (p.Ser33=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18599797G>C | CA506044730 | CRLF1 | c.165C>G (p.Ser55=) n.417C>G c.99C>G (p.Ser33=) | |
| 19 | g.18599797G= | CA2326433898 | CRLF1 | c.165C= (p.Ser55=) n.417C= c.99C= (p.Ser33=) | |
| 19 | g.18599797G>T | CA506044731 | CRLF1 | c.165C>A (p.Ser55=) n.417C>A c.99C>A (p.Ser33=) | gnomAD v4 |
| 19 | g.18599798G>A | CA404852255 | CRLF1 | c.164C>T (p.Ser55Phe) n.416C>T c.98C>T (p.Ser33Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.18599798G>C | CA404852256 | CRLF1 | c.164C>G (p.Ser55Cys) n.416C>G c.98C>G (p.Ser33Cys) | |
| 19 | g.18599798G= | CA2326433899 | CRLF1 | c.164C= (p.Ser55=) n.416C= c.98C= (p.Ser33=) | |
| 19 | g.18599798G>T | CA404852257 | CRLF1 | c.164C>A (p.Ser55Tyr) n.416C>A c.98C>A (p.Ser33Tyr) | |
| 19 | g.18599799A= | CA2326433900 | CRLF1 | c.163T= (p.Ser55=) n.415T= c.97T= (p.Ser33=) | |
| 19 | g.18599799A>C | CA404852258 | CRLF1 | c.163T>G (p.Ser55Ala) n.415T>G c.97T>G (p.Ser33Ala) | |
| 19 | g.18599799A>G | CA9314320 | CRLF1 | c.163T>C (p.Ser55Pro) n.415T>C c.97T>C (p.Ser33Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18599799A>T | CA404852259 | CRLF1 | c.163T>A (p.Ser55Thr) n.415T>A c.97T>A (p.Ser33Thr) | |
| 19 | g.18599800G>A | CA506044732 | CRLF1 | c.162C>T (p.Ser54=) n.414C>T c.96C>T (p.Ser32=) | gnomAD v4 |
| 19 | g.18599800G>C | CA506044733 | CRLF1 | c.162C>G (p.Ser54=) n.414C>G c.96C>G (p.Ser32=) | |
| 19 | g.18599800G>T | CA506044734 | CRLF1 | c.162C>A (p.Ser54=) n.414C>A c.96C>A (p.Ser32=) | |
| 19 | g.18599801G>A | CA404852262 | CRLF1 | c.161C>T (p.Ser54Phe) n.413C>T c.95C>T (p.Ser32Phe) | gnomAD v4 |
| 19 | g.18599801G>C | CA404852260 | CRLF1 | c.161C>G (p.Ser54Cys) n.413C>G c.95C>G (p.Ser32Cys) | |
| 19 | g.18599801G= | CA2326433901 | CRLF1 | c.161C= (p.Ser54=) n.413C= c.95C= (p.Ser32=) | |
| 19 | g.18599801G>T | CA404852261 | CRLF1 | c.161C>A (p.Ser54Tyr) n.413C>A c.95C>A (p.Ser32Tyr) | dbSNP |