Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596614G>A | CA2583603052 | CRLF1 | c.1024+8C>T (n.1024+8C>T) c.447+50C>T c.958+8C>T (n.958+8C>T) | gnomAD v4 |
19 | g.18596614_18596624delinsGTGCTCACCAC | CA2326432215 | CRLF1 | c.1022_1024+8delinsGTGGTGAGCAC c.447+40_447+50delinsGTGGTGAGCAC c.956_958+8delinsGTGGTGAGCAC | |
19 | g.18596618_18596627del | CA2326432216 | CRLF1 | c.1022_1024+7del c.447+40_447+49del c.956_958+7del | dbSNP gnomAD v4 |
19 | g.18596616G>A | CA9314031 | CRLF1 | c.1024+6C>T (n.1024+6C>T) c.447+48C>T c.958+6C>T (n.958+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596616G= | CA2326432217 | CRLF1 | c.1024+6C= (n.1024+6C=) c.447+48C= c.958+6C= (n.958+6C=) | |
19 | g.18596618_18596621dup | CA9314032 | CRLF1 | c.1024+2_1024+5dup (n.1024+2_1024+5dup) c.447+44_447+47dup c.958+2_958+5dup (n.958+2_958+5dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596618T>C | CA2576724682 | CRLF1 | c.1024+4A>G (n.1024+4A>G) c.447+46A>G c.958+4A>G (n.958+4A>G) | gnomAD v4 |
19 | g.18596618_18596630delinsTCACCACTGCGGG | CA2326432218 | CRLF1 | c.1016_1024+4delinsCCCGCAGTGGTGA c.447+34_447+46delinsCCCGCAGTGGTGA c.950_958+4delinsCCCGCAGTGGTGA | |
19 | g.18596619_18596630del | CA2326432219 | CRLF1 | c.1016_1024+3del c.447+34_447+45del c.950_958+3del | dbSNP gnomAD v4 |
19 | g.18596620A>C | CA404850412 | CRLF1 | c.1024+2T>G (n.1024+2T>G) c.447+44T>G c.958+2T>G (n.958+2T>G) | |
19 | g.18596620A>G | CA404850413 | CRLF1 | c.1024+2T>C (n.1024+2T>C) c.447+44T>C c.958+2T>C (n.958+2T>C) | |
19 | g.18596620A>T | CA404850414 | CRLF1 | c.1024+2T>A (n.1024+2T>A) c.447+44T>A c.958+2T>A (n.958+2T>A) | |
19 | g.18596620_18596621delinsAC | CA2326432220 | CRLF1 | c.1024+1_1024+2delinsGT (n.1024+1_1024+2delinsGT) c.447+43_447+44delinsGT c.958+1_958+2delinsGT (n.958+1_958+2delinsGT) | |
19 | g.18596621C>A | CA404850415 | CRLF1 | c.1024+1G>T (n.1024+1G>T) c.447+43G>T c.958+1G>T (n.958+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596621C= | CA2326432221 | CRLF1 | c.1024+1G= (n.1024+1G=) c.447+43G= c.958+1G= (n.958+1G=) | |
19 | g.18596621C>G | CA404850416 | CRLF1 | c.1024+1G>C (n.1024+1G>C) c.447+43G>C c.958+1G>C (n.958+1G>C) | |
19 | g.18596621C>T | CA404850417 | CRLF1 | c.1024+1G>A (n.1024+1G>A) c.447+43G>A c.958+1G>A (n.958+1G>A) | gnomAD v4 |
19 | g.18596622del | CA9314033 | CRLF1 | c.1024+1del c.447+43del c.958+1del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596622C>A | CA404850418 | CRLF1 | c.1024G>T (p.Glu342Ter) c.447+42G>T c.958G>T (p.Glu320Ter) | |
19 | g.18596622C>G | CA404850419 | CRLF1 | c.1024G>C (p.Glu342Gln) c.447+42G>C c.958G>C (p.Glu320Gln) | |
19 | g.18596622C>T | CA404850420 | CRLF1 | c.1024G>A (p.Glu342Lys) c.447+42G>A c.958G>A (p.Glu320Lys) | |
19 | g.18596623A>C | CA404850421 | CRLF1 | c.1023T>G (p.Ser341Arg) c.447+41T>G c.957T>G (p.Ser319Arg) | |
19 | g.18596623A>G | CA506044235 | CRLF1 | c.1023T>C (p.Ser341=) c.447+41T>C c.957T>C (p.Ser319=) | |
19 | g.18596623A>T | CA404850422 | CRLF1 | c.1023T>A (p.Ser341Arg) c.447+41T>A c.957T>A (p.Ser319Arg) | |
19 | g.18596624C>A | CA404850423 | CRLF1 | c.1022G>T (p.Ser341Ile) c.447+40G>T c.956G>T (p.Ser319Ile) | |
19 | g.18596624C>G | CA404850424 | CRLF1 | c.1022G>C (p.Ser341Thr) c.447+40G>C c.956G>C (p.Ser319Thr) | |
19 | g.18596624C>T | CA404850425 | CRLF1 | c.1022G>A (p.Ser341Asn) c.447+40G>A c.956G>A (p.Ser319Asn) | gnomAD v4 |
19 | g.18596625T>A | CA404850426 | CRLF1 | c.1021A>T (p.Ser341Cys) c.447+39A>T c.955A>T (p.Ser319Cys) | |
19 | g.18596625T>C | CA404850427 | CRLF1 | c.1021A>G (p.Ser341Gly) c.447+39A>G c.955A>G (p.Ser319Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596625T>G | CA404850428 | CRLF1 | c.1021A>C (p.Ser341Arg) c.447+39A>C c.955A>C (p.Ser319Arg) | |
19 | g.18596625T= | CA2326432222 | CRLF1 | c.1021A= (p.Ser341=) c.447+39A= c.955A= (p.Ser319=) | |
19 | g.18596626G>A | CA506044238 | CRLF1 | c.1020C>T (p.Arg340=) c.447+38C>T c.954C>T (p.Arg318=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596626G>C | CA306260261 | CRLF1 | c.1020C>G (p.Arg340=) c.447+38C>G c.954C>G (p.Arg318=) | dbSNP |
19 | g.18596626G= | CA2326432223 | CRLF1 | c.1020C= (p.Arg340=) c.447+38C= c.954C= (p.Arg318=) | |
19 | g.18596626G>T | CA506044240 | CRLF1 | c.1020C>A (p.Arg340=) c.447+38C>A c.954C>A (p.Arg318=) | ClinVar COSMIC |
19 | g.18596626_18596627delinsGC | CA2326432224 | CRLF1 | c.1019_1020delinsGC (p.Arg340=) c.447+37_447+38delinsGC c.953_954delinsGC (p.Arg318=) | |
19 | g.18596627del | CA783933229 | CRLF1 | c.1019del (p.Arg340ProfsTer?) c.447+37del c.953del (p.Arg318ProfsTer?) | dbSNP |
19 | g.18596627C>A | CA404850429 | CRLF1 | c.1019G>T (p.Arg340Leu) c.447+37G>T c.953G>T (p.Arg318Leu) | |
19 | g.18596627C= | CA2326432225 | CRLF1 | c.1019G= (p.Arg340=) c.447+37G= c.953G= (p.Arg318=) | |
19 | g.18596627C>G | CA404850430 | CRLF1 | c.1019G>C (p.Arg340Pro) c.447+37G>C c.953G>C (p.Arg318Pro) | gnomAD v4 |
19 | g.18596627C>T | CA306260270 | CRLF1 | c.1019G>A (p.Arg340His) c.447+37G>A c.953G>A (p.Arg318His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596628G>A | CA9314034 | CRLF1 | c.1018C>T (p.Arg340Cys) c.447+36C>T c.952C>T (p.Arg318Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18596628G>C | CA306260277 | CRLF1 | c.1018C>G (p.Arg340Gly) c.447+36C>G c.952C>G (p.Arg318Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596628G= | CA2326432226 | CRLF1 | c.1018C= (p.Arg340=) c.447+36C= c.952C= (p.Arg318=) | |
19 | g.18596628G>T | CA404850431 | CRLF1 | c.1018C>A (p.Arg340Ser) c.447+36C>A c.952C>A (p.Arg318Ser) | |
19 | g.18596631del | CA2583603053 | CRLF1 | c.1018del (p.Arg340AlafsTer?) c.447+36del c.952del (p.Arg318AlafsTer?) | gnomAD v4 |
19 | g.18596629G>A | CA306260278 | CRLF1 | c.1017C>T (p.Pro339=) c.447+35C>T c.951C>T (p.Pro317=) | dbSNP |
19 | g.18596629G>C | CA506044241 | CRLF1 | c.1017C>G (p.Pro339=) c.447+35C>G c.951C>G (p.Pro317=) | |
19 | g.18596629G= | CA2326432227 | CRLF1 | c.1017C= (p.Pro339=) c.447+35C= c.951C= (p.Pro317=) | |
19 | g.18596629G>T | CA506044242 | CRLF1 | c.1017C>A (p.Pro339=) c.447+35C>A c.951C>A (p.Pro317=) | |
19 | g.18596630G>A | CA404850434 | CRLF1 | c.1016C>T (p.Pro339Leu) c.447+34C>T c.950C>T (p.Pro317Leu) | |
19 | g.18596630G>C | CA404850432 | CRLF1 | c.1016C>G (p.Pro339Arg) c.447+34C>G c.950C>G (p.Pro317Arg) | |
19 | g.18596630G>T | CA404850433 | CRLF1 | c.1016C>A (p.Pro339His) c.447+34C>A c.950C>A (p.Pro317His) | |
19 | g.18596631G>A | CA404850435 | CRLF1 | c.1015C>T (p.Pro339Ser) c.447+33C>T c.949C>T (p.Pro317Ser) | gnomAD v4 |
19 | g.18596631G>C | CA404850436 | CRLF1 | c.1015C>G (p.Pro339Ala) c.447+33C>G c.949C>G (p.Pro317Ala) | |
19 | g.18596631G>T | CA404850437 | CRLF1 | c.1015C>A (p.Pro339Thr) c.447+33C>A c.949C>A (p.Pro317Thr) | |
19 | g.18596632A= | CA2326432228 | CRLF1 | c.1014T= (p.Thr338=) c.447+32T= c.948T= (p.Thr316=) | |
19 | g.18596632A>C | CA306260279 | CRLF1 | c.1014T>G (p.Thr338=) c.447+32T>G c.948T>G (p.Thr316=) | dbSNP gnomAD v2 |
19 | g.18596632A>G | CA506044243 | CRLF1 | c.1014T>C (p.Thr338=) c.447+32T>C c.948T>C (p.Thr316=) | |
19 | g.18596632A>T | CA506044244 | CRLF1 | c.1014T>A (p.Thr338=) c.447+32T>A c.948T>A (p.Thr316=) | |
19 | g.18596633G>A | CA404850438 | CRLF1 | c.1013C>T (p.Thr338Ile) c.447+31C>T c.947C>T (p.Thr316Ile) | |
19 | g.18596633G>C | CA404850439 | CRLF1 | c.1013C>G (p.Thr338Ser) c.447+31C>G c.947C>G (p.Thr316Ser) | |
19 | g.18596633G>T | CA404850440 | CRLF1 | c.1013C>A (p.Thr338Asn) c.447+31C>A c.947C>A (p.Thr316Asn) | |
19 | g.18596634T>A | CA404850441 | CRLF1 | c.1012A>T (p.Thr338Ser) c.447+30A>T c.946A>T (p.Thr316Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596634T>C | CA404850442 | CRLF1 | c.1012A>G (p.Thr338Ala) c.447+30A>G c.946A>G (p.Thr316Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596634T>G | CA404850443 | CRLF1 | c.1012A>C (p.Thr338Pro) c.447+30A>C c.946A>C (p.Thr316Pro) | |
19 | g.18596634T= | CA2326432229 | CRLF1 | c.1012A= (p.Thr338=) c.447+30A= c.946A= (p.Thr316=) | |
19 | g.18596635G>A | CA9314035 | CRLF1 | c.1011C>T (p.Ser337=) c.447+29C>T c.945C>T (p.Ser315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596635G>C | CA506044246 | CRLF1 | c.1011C>G (p.Ser337=) c.447+29C>G c.945C>G (p.Ser315=) | |
19 | g.18596635G= | CA2326432230 | CRLF1 | c.1011C= (p.Ser337=) c.447+29C= c.945C= (p.Ser315=) | |
19 | g.18596635G>T | CA506044245 | CRLF1 | c.1011C>A (p.Ser337=) c.447+29C>A c.945C>A (p.Ser315=) | |
19 | g.18596636G>A | CA404850444 | CRLF1 | c.1010C>T (p.Ser337Phe) c.447+28C>T c.944C>T (p.Ser315Phe) | dbSNP |
19 | g.18596636G>C | CA404850445 | CRLF1 | c.1010C>G (p.Ser337Cys) c.447+28C>G c.944C>G (p.Ser315Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596636G= | CA2326432231 | CRLF1 | c.1010C= (p.Ser337=) c.447+28C= c.944C= (p.Ser315=) | |
19 | g.18596636G>T | CA404850446 | CRLF1 | c.1010C>A (p.Ser337Tyr) c.447+28C>A c.944C>A (p.Ser315Tyr) | |
19 | g.18596637A>C | CA404850449 | CRLF1 | c.1009T>G (p.Ser337Ala) c.447+27T>G c.943T>G (p.Ser315Ala) | |
19 | g.18596637A>G | CA404850447 | CRLF1 | c.1009T>C (p.Ser337Pro) c.447+27T>C c.943T>C (p.Ser315Pro) | |
19 | g.18596637A>T | CA404850448 | CRLF1 | c.1009T>A (p.Ser337Thr) c.447+27T>A c.943T>A (p.Ser315Thr) | |
19 | g.18596638G>A | CA506044252 | CRLF1 | c.1008C>T (p.Ala336=) c.447+26C>T c.942C>T (p.Ala314=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596638G>C | CA506044249 | CRLF1 | c.1008C>G (p.Ala336=) c.447+26C>G c.942C>G (p.Ala314=) | |
19 | g.18596638G>T | CA506044250 | CRLF1 | c.1008C>A (p.Ala336=) c.447+26C>A c.942C>A (p.Ala314=) | |
19 | g.18596639G>A | CA404850450 | CRLF1 | c.1007C>T (p.Ala336Val) c.447+25C>T c.941C>T (p.Ala314Val) | |
19 | g.18596639G>C | CA404850451 | CRLF1 | c.1007C>G (p.Ala336Gly) c.447+25C>G c.941C>G (p.Ala314Gly) | |
19 | g.18596639G>T | CA404850452 | CRLF1 | c.1007C>A (p.Ala336Asp) c.447+25C>A c.941C>A (p.Ala314Asp) | |
19 | g.18596640C>A | CA404850453 | CRLF1 | c.1006G>T (p.Ala336Ser) c.447+24G>T c.940G>T (p.Ala314Ser) | |
19 | g.18596640C= | CA2326432232 | CRLF1 | c.1006G= (p.Ala336=) c.447+24G= c.940G= (p.Ala314=) | |
19 | g.18596640C>G | CA404850454 | CRLF1 | c.1006G>C (p.Ala336Pro) c.447+24G>C c.940G>C (p.Ala314Pro) | |
19 | g.18596640C>T | CA9314036 | CRLF1 | c.1006G>A (p.Ala336Thr) c.447+24G>A c.940G>A (p.Ala314Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596641G>A | CA306260287 | CRLF1 | c.1005C>T (p.Ala335=) c.447+23C>T c.939C>T (p.Ala313=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596641G>C | CA506044253 | CRLF1 | c.1005C>G (p.Ala335=) c.447+23C>G c.939C>G (p.Ala313=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596641G= | CA2326432233 | CRLF1 | c.1005C= (p.Ala335=) c.447+23C= c.939C= (p.Ala313=) | |
19 | g.18596641G>T | CA306260282 | CRLF1 | c.1005C>A (p.Ala335=) c.447+23C>A c.939C>A (p.Ala313=) | ClinVar dbSNP gnomAD v4 |
19 | g.18596642G>A | CA404850455 | CRLF1 | c.1004C>T (p.Ala335Val) c.447+22C>T c.938C>T (p.Ala313Val) | |
19 | g.18596642G>C | CA404850456 | CRLF1 | c.1004C>G (p.Ala335Gly) c.447+22C>G c.938C>G (p.Ala313Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596642G= | CA2326432234 | CRLF1 | c.1004C= (p.Ala335=) c.447+22C= c.938C= (p.Ala313=) | |
19 | g.18596642G>T | CA404850457 | CRLF1 | c.1004C>A (p.Ala335Asp) c.447+22C>A c.938C>A (p.Ala313Asp) | |
19 | g.18596643C>A | CA404850458 | CRLF1 | c.1003G>T (p.Ala335Ser) c.447+21G>T c.937G>T (p.Ala313Ser) | |
19 | g.18596643C= | CA2326432235 | CRLF1 | c.1003G= (p.Ala335=) c.447+21G= c.937G= (p.Ala313=) | |
19 | g.18596643C>G | CA404850459 | CRLF1 | c.1003G>C (p.Ala335Pro) c.447+21G>C c.937G>C (p.Ala313Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596643C>T | CA404850460 | CRLF1 | c.1003G>A (p.Ala335Thr) c.447+21G>A c.937G>A (p.Ala313Thr) | |
19 | g.18596644T>A | CA506044255 | CRLF1 | c.1002A>T (p.Thr334=) c.447+20A>T c.936A>T (p.Thr312=) | |
19 | g.18596644T>C | CA506044256 | CRLF1 | c.1002A>G (p.Thr334=) c.447+20A>G c.936A>G (p.Thr312=) | gnomAD v4 |
19 | g.18596644T>G | CA506044257 | CRLF1 | c.1002A>C (p.Thr334=) c.447+20A>C c.936A>C (p.Thr312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596644T= | CA2326432236 | CRLF1 | c.1002A= (p.Thr334=) c.447+20A= c.936A= (p.Thr312=) | |
19 | g.18596645G>A | CA404850461 | CRLF1 | c.1001C>T (p.Thr334Ile) c.447+19C>T c.935C>T (p.Thr312Ile) | gnomAD v4 |
19 | g.18596645G>C | CA404850463 | CRLF1 | c.1001C>G (p.Thr334Arg) c.447+19C>G c.935C>G (p.Thr312Arg) | gnomAD v4 COSMIC |
19 | g.18596645G>T | CA404850462 | CRLF1 | c.1001C>A (p.Thr334Lys) c.447+19C>A c.935C>A (p.Thr312Lys) | |
19 | g.18596646T>A | CA404850464 | CRLF1 | c.1000A>T (p.Thr334Ser) c.447+18A>T c.934A>T (p.Thr312Ser) | |
19 | g.18596646T>C | CA404850465 | CRLF1 | c.1000A>G (p.Thr334Ala) c.447+18A>G c.934A>G (p.Thr312Ala) | |
19 | g.18596646T>G | CA404850466 | CRLF1 | c.1000A>C (p.Thr334Pro) c.447+18A>C c.934A>C (p.Thr312Pro) | gnomAD v4 |
19 | g.18596647G>A | CA9314037 | CRLF1 | c.999C>T (p.Pro333=) c.447+17C>T c.933C>T (p.Pro311=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596647G>C | CA506044258 | CRLF1 | c.999C>G (p.Pro333=) c.447+17C>G c.933C>G (p.Pro311=) | |
19 | g.18596647G= | CA2326432237 | CRLF1 | c.999C= (p.Pro333=) c.447+17C= c.933C= (p.Pro311=) | |
19 | g.18596647G>T | CA506044259 | CRLF1 | c.999C>A (p.Pro333=) c.447+17C>A c.933C>A (p.Pro311=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596648G>A | CA404850467 | CRLF1 | c.998C>T (p.Pro333Leu) c.447+16C>T c.932C>T (p.Pro311Leu) | |
19 | g.18596648G>C | CA404850468 | CRLF1 | c.998C>G (p.Pro333Arg) c.447+16C>G c.932C>G (p.Pro311Arg) | dbSNP |
19 | g.18596648G= | CA2326432238 | CRLF1 | c.998C= (p.Pro333=) c.447+16C= c.932C= (p.Pro311=) | |
19 | g.18596648G>T | CA404850469 | CRLF1 | c.998C>A (p.Pro333His) c.447+16C>A c.932C>A (p.Pro311His) | |
19 | g.18596649G>A | CA404850472 | CRLF1 | c.997C>T (p.Pro333Ser) c.447+15C>T c.931C>T (p.Pro311Ser) | dbSNP |
19 | g.18596649G>C | CA404850470 | CRLF1 | c.997C>G (p.Pro333Ala) c.447+15C>G c.931C>G (p.Pro311Ala) | gnomAD v4 |
19 | g.18596649G= | CA2326432239 | CRLF1 | c.997C= (p.Pro333=) c.447+15C= c.931C= (p.Pro311=) | |
19 | g.18596649G>T | CA404850471 | CRLF1 | c.997C>A (p.Pro333Thr) c.447+15C>A c.931C>A (p.Pro311Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596650G>A | CA506044260 | CRLF1 | c.996C>T (p.His332=) c.447+14C>T c.930C>T (p.His310=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596650G>C | CA404850473 | CRLF1 | c.996C>G (p.His332Gln) c.447+14C>G c.930C>G (p.His310Gln) | |
19 | g.18596650G= | CA2326432240 | CRLF1 | c.996C= (p.His332=) c.447+14C= c.930C= (p.His310=) | |
19 | g.18596650G>T | CA404850474 | CRLF1 | c.996C>A (p.His332Gln) c.447+14C>A c.930C>A (p.His310Gln) | |
19 | g.18596651T>A | CA404850475 | CRLF1 | c.995A>T (p.His332Leu) c.447+13A>T c.929A>T (p.His310Leu) | |
19 | g.18596651T>C | CA404850476 | CRLF1 | c.995A>G (p.His332Arg) c.447+13A>G c.929A>G (p.His310Arg) | |
19 | g.18596651T>G | CA404850477 | CRLF1 | c.995A>C (p.His332Pro) c.447+13A>C c.929A>C (p.His310Pro) | gnomAD v4 |
19 | g.18596652G>A | CA404850478 | CRLF1 | c.994C>T (p.His332Tyr) c.447+12C>T c.928C>T (p.His310Tyr) | |
19 | g.18596652G>C | CA404850480 | CRLF1 | c.994C>G (p.His332Asp) c.447+12C>G c.928C>G (p.His310Asp) | |
19 | g.18596652G>T | CA404850479 | CRLF1 | c.994C>A (p.His332Asn) c.447+12C>A c.928C>A (p.His310Asn) | |
19 | g.18596653G>A | CA506044263 | CRLF1 | c.993C>T (p.Ser331=) c.447+11C>T c.927C>T (p.Ser309=) | |
19 | g.18596653G>C | CA404850481 | CRLF1 | c.993C>G (p.Ser331Arg) c.447+11C>G c.927C>G (p.Ser309Arg) | gnomAD v4 |
19 | g.18596653G>T | CA404850482 | CRLF1 | c.993C>A (p.Ser331Arg) c.447+11C>A c.927C>A (p.Ser309Arg) | COSMIC |
19 | g.18596654C>A | CA404850483 | CRLF1 | c.992G>T (p.Ser331Ile) c.447+10G>T c.926G>T (p.Ser309Ile) | |
19 | g.18596654C= | CA2326432241 | CRLF1 | c.992G= (p.Ser331=) c.447+10G= c.926G= (p.Ser309=) | |
19 | g.18596654C>G | CA404850484 | CRLF1 | c.992G>C (p.Ser331Thr) c.447+10G>C c.926G>C (p.Ser309Thr) | |
19 | g.18596654C>T | CA404850485 | CRLF1 | c.992G>A (p.Ser331Asn) c.447+10G>A c.926G>A (p.Ser309Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596655T>A | CA404850486 | CRLF1 | c.991A>T (p.Ser331Cys) c.447+9A>T c.925A>T (p.Ser309Cys) | |
19 | g.18596655T>C | CA404850487 | CRLF1 | c.991A>G (p.Ser331Gly) c.447+9A>G c.925A>G (p.Ser309Gly) | |
19 | g.18596655T>G | CA404850488 | CRLF1 | c.991A>C (p.Ser331Arg) c.447+9A>C c.925A>C (p.Ser309Arg) | |
19 | g.18596656C>A | CA404850489 | CRLF1 | c.990G>T (p.Trp330Cys) c.447+8G>T c.924G>T (p.Trp308Cys) | |
19 | g.18596656C= | CA2326432243 | CRLF1 | c.990G= (p.Trp330=) c.447+8G= c.924G= (p.Trp308=) | |
19 | g.18596656C>G | CA404850490 | CRLF1 | c.990G>C (p.Trp330Cys) c.447+8G>C c.924G>C (p.Trp308Cys) | |
19 | g.18596656C>T | CA306260292 | CRLF1 | c.990G>A (p.Trp330Ter) c.447+8G>A c.924G>A (p.Trp308Ter) | dbSNP gnomAD v4 |
19 | g.18596656_18596660delinsCCACT | CA2326432242 | CRLF1 | c.986_990delinsAGTGG (p.Glu329=) c.447+4_447+8delinsAGTGG c.920_924delinsAGTGG (p.Glu307=) | |
19 | g.18596657C>A | CA404850491 | CRLF1 | c.989G>T (p.Trp330Leu) c.447+7G>T c.923G>T (p.Trp308Leu) | |
19 | g.18596657C>G | CA404850492 | CRLF1 | c.989G>C (p.Trp330Ser) c.447+7G>C c.923G>C (p.Trp308Ser) | |
19 | g.18596657C>T | CA404850493 | CRLF1 | c.989G>A (p.Trp330Ter) c.447+7G>A c.923G>A (p.Trp308Ter) | |
19 | g.18596662_18596665del | CA9314038 | CRLF1 | c.986_989del (p.Glu329GlyfsTer?) c.447+4_447+7del c.920_923del (p.Glu307GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596658A>C | CA404850494 | CRLF1 | c.988T>G (p.Trp330Gly) c.447+6T>G c.922T>G (p.Trp308Gly) | |
19 | g.18596658A>G | CA404850495 | CRLF1 | c.988T>C (p.Trp330Arg) c.447+6T>C c.922T>C (p.Trp308Arg) | |
19 | g.18596658A>T | CA404850496 | CRLF1 | c.988T>A (p.Trp330Arg) c.447+6T>A c.922T>A (p.Trp308Arg) | |
19 | g.18596659C>A | CA404850497 | CRLF1 | c.987G>T (p.Glu329Asp) c.447+5G>T c.921G>T (p.Glu307Asp) | |
19 | g.18596659C= | CA2326432244 | CRLF1 | c.987G= (p.Glu329=) c.447+5G= c.921G= (p.Glu307=) | |
19 | g.18596659C>G | CA9314039 | CRLF1 | c.987G>C (p.Glu329Asp) c.447+5G>C c.921G>C (p.Glu307Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596659C>T | CA506116306 | CRLF1 | c.987G>A (p.Glu329=) c.447+5G>A c.921G>A (p.Glu307=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596660T>A | CA404850498 | CRLF1 | c.986A>T (p.Glu329Val) c.447+4A>T c.920A>T (p.Glu307Val) | |
19 | g.18596660T>C | CA404850499 | CRLF1 | c.986A>G (p.Glu329Gly) c.447+4A>G c.920A>G (p.Glu307Gly) | |
19 | g.18596660T>G | CA9314040 | CRLF1 | c.986A>C (p.Glu329Ala) c.447+4A>C c.920A>C (p.Glu307Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596660T= | CA2326432245 | CRLF1 | c.986A= (p.Glu329=) c.447+4A= c.920A= (p.Glu307=) | |
19 | g.18596661C>A | CA404850500 | CRLF1 | c.985G>T (p.Glu329Ter) c.447+3G>T c.919G>T (p.Glu307Ter) | |
19 | g.18596661C>G | CA404850501 | CRLF1 | c.985G>C (p.Glu329Gln) c.447+3G>C c.919G>C (p.Glu307Gln) | |
19 | g.18596661C>T | CA404850502 | CRLF1 | c.985G>A (p.Glu329Lys) c.447+3G>A c.919G>A (p.Glu307Lys) | gnomAD v4 |
19 | g.18596661dup | CA915952925 | CRLF1 | c.985dup (p.Glu329GlyfsTer14) c.447+3dup c.919dup (p.Glu307GlyfsTer14) | ClinVar dbSNP |
19 | g.18596662A= | CA2326432246 | CRLF1 | c.984T= (p.Ser328=) c.447+2T= c.918T= (p.Ser306=) | |
19 | g.18596662A>C | CA404850504 | CRLF1 | c.984T>G (p.Ser328Arg) c.447+2T>G c.918T>G (p.Ser306Arg) | |
19 | g.18596662A>G | CA506116307 | CRLF1 | c.984T>C (p.Ser328=) c.447+2T>C c.918T>C (p.Ser306=) | gnomAD v4 |
19 | g.18596662A>T | CA404850503 | CRLF1 | c.984T>A (p.Ser328Arg) c.447+2T>A c.918T>A (p.Ser306Arg) | |
19 | g.18596663C>A | CA404850505 | CRLF1 | c.983G>T (p.Ser328Ile) c.447+1G>T c.917G>T (p.Ser306Ile) | |
19 | g.18596663C>G | CA404850506 | CRLF1 | c.983G>C (p.Ser328Thr) c.447+1G>C c.917G>C (p.Ser306Thr) | |
19 | g.18596663C>T | CA404850507 | CRLF1 | c.983G>A (p.Ser328Asn) c.447+1G>A c.917G>A (p.Ser306Asn) | |
19 | g.18596663dup | CA16620812 | CRLF1 | c.983dup (p.Ser328ArgfsTer2) c.447+1dup c.917dup (p.Ser306ArgfsTer2) | ClinVar dbSNP |
19 | g.18596664T>A | CA404850508 | CRLF1 | c.982A>T (p.Ser328Cys) c.447A>T c.916A>T (p.Ser306Cys) | |
19 | g.18596664T>C | CA306260296 | CRLF1 | c.982A>G (p.Ser328Gly) c.447A>G c.916A>G (p.Ser306Gly) | dbSNP gnomAD v4 |
19 | g.18596664T>G | CA404850509 | CRLF1 | c.982A>C (p.Ser328Arg) c.447A>C c.916A>C (p.Ser306Arg) | |
19 | g.18596664T= | CA2326432247 | CRLF1 | c.982A= (p.Ser328=) c.447A= c.916A= (p.Ser306=) | |
19 | g.18596665C>A | CA404850510 | CRLF1 | c.981G>T (p.Trp327Cys) c.446G>T c.915G>T (p.Trp305Cys) | |
19 | g.18596665C>G | CA404850511 | CRLF1 | c.981G>C (p.Trp327Cys) c.446G>C c.915G>C (p.Trp305Cys) | |
19 | g.18596665C>T | CA404850512 | CRLF1 | c.981G>A (p.Trp327Ter) c.446G>A c.915G>A (p.Trp305Ter) | |
19 | g.18596666C>A | CA404850513 | CRLF1 | c.980G>T (p.Trp327Leu) c.445G>T c.914G>T (p.Trp305Leu) | |
19 | g.18596666C>G | CA404850514 | CRLF1 | c.980G>C (p.Trp327Ser) c.445G>C c.914G>C (p.Trp305Ser) | |
19 | g.18596666C>T | CA404850515 | CRLF1 | c.980G>A (p.Trp327Ter) c.445G>A c.914G>A (p.Trp305Ter) | |
19 | g.18596667A>C | CA404850517 | CRLF1 | c.979T>G (p.Trp327Gly) c.444T>G c.913T>G (p.Trp305Gly) | |
19 | g.18596667A>G | CA404850518 | CRLF1 | c.979T>C (p.Trp327Arg) c.444T>C c.913T>C (p.Trp305Arg) | |
19 | g.18596667A>T | CA404850516 | CRLF1 | c.979T>A (p.Trp327Arg) c.444T>A c.913T>A (p.Trp305Arg) | |
19 | g.18596668G>A | CA506116308 | CRLF1 | c.978C>T (p.Ile326=) c.443C>T c.912C>T (p.Ile304=) | |
19 | g.18596668G>C | CA404850519 | CRLF1 | c.978C>G (p.Ile326Met) c.443C>G c.912C>G (p.Ile304Met) | |
19 | g.18596668G>T | CA506116309 | CRLF1 | c.978C>A (p.Ile326=) c.443C>A c.912C>A (p.Ile304=) | gnomAD v4 |
19 | g.18596669A= | CA2326432248 | CRLF1 | c.977T= (p.Ile326=) c.442T= c.911T= (p.Ile304=) | |
19 | g.18596669A>C | CA404850520 | CRLF1 | c.977T>G (p.Ile326Ser) c.442T>G c.911T>G (p.Ile304Ser) | |
19 | g.18596669A>G | CA404850521 | CRLF1 | c.977T>C (p.Ile326Thr) c.442T>C c.911T>C (p.Ile304Thr) | |
19 | g.18596669A>T | CA9314041 | CRLF1 | c.977T>A (p.Ile326Asn) c.442T>A c.911T>A (p.Ile304Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596670T>A | CA404850522 | CRLF1 | c.976A>T (p.Ile326Phe) c.441A>T c.910A>T (p.Ile304Phe) | |
19 | g.18596670T>C | CA9314042 | CRLF1 | c.976A>G (p.Ile326Val) c.441A>G c.910A>G (p.Ile304Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596670T>G | CA404850523 | CRLF1 | c.976A>C (p.Ile326Leu) c.441A>C c.910A>C (p.Ile304Leu) | |
19 | g.18596670T= | CA2326432249 | CRLF1 | c.976A= (p.Ile326=) c.441A= c.910A= (p.Ile304=) | |
19 | g.18596671C>A | CA506116310 | CRLF1 | c.975G>T (p.Gly325=) c.440G>T c.909G>T (p.Gly303=) | |
19 | g.18596671C= | CA2326432250 | CRLF1 | c.975G= (p.Gly325=) c.440G= c.909G= (p.Gly303=) | |
19 | g.18596671C>G | CA506116311 | CRLF1 | c.975G>C (p.Gly325=) c.440G>C c.909G>C (p.Gly303=) | |
19 | g.18596671C>T | CA506116312 | CRLF1 | c.975G>A (p.Gly325=) c.440G>A c.909G>A (p.Gly303=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596672C>A | CA404850524 | CRLF1 | c.974G>T (p.Gly325Val) c.439G>T c.908G>T (p.Gly303Val) | |
19 | g.18596672C>G | CA404850525 | CRLF1 | c.974G>C (p.Gly325Ala) c.439G>C c.908G>C (p.Gly303Ala) | |
19 | g.18596672C>T | CA404850526 | CRLF1 | c.974G>A (p.Gly325Glu) c.439G>A c.908G>A (p.Gly303Glu) | |
19 | g.18596673C>A | CA404850527 | CRLF1 | c.973G>T (p.Gly325Trp) c.438G>T c.907G>T (p.Gly303Trp) | |
19 | g.18596673C= | CA2326432251 | CRLF1 | c.973G= (p.Gly325=) c.438G= c.907G= (p.Gly303=) | |
19 | g.18596673C>G | CA404850528 | CRLF1 | c.973G>C (p.Gly325Arg) c.438G>C c.907G>C (p.Gly303Arg) | |
19 | g.18596673C>T | CA306260312 | CRLF1 | c.973G>A (p.Gly325Arg) c.438G>A c.907G>A (p.Gly303Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18596674G>A | CA9314043 | CRLF1 | c.972C>T (p.Ala324=) c.437C>T c.906C>T (p.Ala302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596674G>C | CA506116313 | CRLF1 | c.972C>G (p.Ala324=) c.437C>G c.906C>G (p.Ala302=) | ClinVar dbSNP gnomAD v4 |
19 | g.18596674G= | CA2326432252 | CRLF1 | c.972C= (p.Ala324=) c.437C= c.906C= (p.Ala302=) | |
19 | g.18596674G>T | CA506116314 | CRLF1 | c.972C>A (p.Ala324=) c.437C>A c.906C>A (p.Ala302=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596675del | CA2583603054 | CRLF1 | c.972del (p.Ile326SerfsTer?) c.437del c.906del (p.Ile304SerfsTer?) | gnomAD v4 |
19 | g.18596675G>A | CA404850529 | CRLF1 | c.971C>T (p.Ala324Val) c.436C>T c.905C>T (p.Ala302Val) | |
19 | g.18596675G>C | CA9314044 | CRLF1 | c.971C>G (p.Ala324Gly) c.436C>G c.905C>G (p.Ala302Gly) | dbSNP ExAC |
19 | g.18596675G= | CA2326432253 | CRLF1 | c.971C= (p.Ala324=) c.436C= c.905C= (p.Ala302=) | |
19 | g.18596675G>T | CA404850530 | CRLF1 | c.971C>A (p.Ala324Asp) c.436C>A c.905C>A (p.Ala302Asp) | |
19 | g.18596676C>A | CA404850531 | CRLF1 | c.970G>T (p.Ala324Ser) c.435G>T c.904G>T (p.Ala302Ser) | gnomAD v4 |
19 | g.18596676C>G | CA404850533 | CRLF1 | c.970G>C (p.Ala324Pro) c.435G>C c.904G>C (p.Ala302Pro) | |
19 | g.18596676C>T | CA404850532 | CRLF1 | c.970G>A (p.Ala324Thr) c.435G>A c.904G>A (p.Ala302Thr) | |
19 | g.18596676_18596682delinsCTTTCTT | CA2326432254 | CRLF1 | c.964_970delinsAAGAAAG (p.Lys322=) c.429_435delinsAAGAAAG c.898_904delinsAAGAAAG (p.Lys300=) | |
19 | g.18596677T>A | CA404850534 | CRLF1 | c.969A>T (p.Lys323Asn) c.434A>T c.903A>T (p.Lys301Asn) | |
19 | g.18596677T>C | CA506116315 | CRLF1 | c.969A>G (p.Lys323=) c.434A>G c.903A>G (p.Lys301=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596677T>G | CA404850535 | CRLF1 | c.969A>C (p.Lys323Asn) c.434A>C c.903A>C (p.Lys301Asn) | |
19 | g.18596677T= | CA2326432255 | CRLF1 | c.969A= (p.Lys323=) c.434A= c.903A= (p.Lys301=) | |
19 | g.18596677_18596682del | CA783933388 | CRLF1 | c.964_969del (p.Lys322_Lys323del) c.429_434del c.898_903del (p.Lys300_Lys301del) | dbSNP |
19 | g.18596678T>A | CA404850536 | CRLF1 | c.968A>T (p.Lys323Ile) c.433A>T c.902A>T (p.Lys301Ile) | |
19 | g.18596678T>C | CA404850537 | CRLF1 | c.968A>G (p.Lys323Arg) c.433A>G c.902A>G (p.Lys301Arg) | |
19 | g.18596678T>G | CA404850538 | CRLF1 | c.968A>C (p.Lys323Thr) c.433A>C c.902A>C (p.Lys301Thr) | |
19 | g.18596679T>A | CA404850539 | CRLF1 | c.967A>T (p.Lys323Ter) c.432A>T c.901A>T (p.Lys301Ter) | |
19 | g.18596679T>C | CA404850540 | CRLF1 | c.967A>G (p.Lys323Glu) c.432A>G c.901A>G (p.Lys301Glu) | |
19 | g.18596679T>G | CA404850541 | CRLF1 | c.967A>C (p.Lys323Gln) c.432A>C c.901A>C (p.Lys301Gln) | |
19 | g.18596680C>A | CA404850542 | CRLF1 | c.966G>T (p.Lys322Asn) c.431G>T c.900G>T (p.Lys300Asn) | |
19 | g.18596680C>G | CA404850543 | CRLF1 | c.966G>C (p.Lys322Asn) c.431G>C c.900G>C (p.Lys300Asn) | gnomAD v4 |
19 | g.18596680C>T | CA506116316 | CRLF1 | c.966G>A (p.Lys322=) c.431G>A c.900G>A (p.Lys300=) | ClinVar gnomAD v4 |
19 | g.18596681T>A | CA404850546 | CRLF1 | c.965A>T (p.Lys322Met) c.430A>T c.899A>T (p.Lys300Met) | |
19 | g.18596681T>C | CA404850545 | CRLF1 | c.965A>G (p.Lys322Arg) c.430A>G c.899A>G (p.Lys300Arg) | dbSNP gnomAD v4 |
19 | g.18596681T>G | CA404850544 | CRLF1 | c.965A>C (p.Lys322Thr) c.430A>C c.899A>C (p.Lys300Thr) | gnomAD v4 |
19 | g.18596681T= | CA2326432256 | CRLF1 | c.965A= (p.Lys322=) c.430A= c.899A= (p.Lys300=) | |
19 | g.18596682T>A | CA404850547 | CRLF1 | c.964A>T (p.Lys322Ter) c.429A>T c.898A>T (p.Lys300Ter) | |
19 | g.18596682T>C | CA9314045 | CRLF1 | c.964A>G (p.Lys322Glu) c.429A>G c.898A>G (p.Lys300Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596682T>G | CA404850548 | CRLF1 | c.964A>C (p.Lys322Gln) c.429A>C c.898A>C (p.Lys300Gln) | gnomAD v4 |
19 | g.18596682T= | CA2326432257 | CRLF1 | c.964A= (p.Lys322=) c.429A= c.898A= (p.Lys300=) | |
19 | g.18596683G>A | CA506116318 | CRLF1 | c.963C>T (p.Ser321=) c.428C>T c.897C>T (p.Ser299=) | |
19 | g.18596683G>C | CA506116319 | CRLF1 | c.963C>G (p.Ser321=) c.428C>G c.897C>G (p.Ser299=) | |
19 | g.18596683G>T | CA506116317 | CRLF1 | c.963C>A (p.Ser321=) c.428C>A c.897C>A (p.Ser299=) | gnomAD v4 |
19 | g.18596684G>A | CA404850549 | CRLF1 | c.962C>T (p.Ser321Phe) c.427C>T c.896C>T (p.Ser299Phe) | |
19 | g.18596684G>C | CA404850550 | CRLF1 | c.962C>G (p.Ser321Cys) c.427C>G c.896C>G (p.Ser299Cys) | |
19 | g.18596684G>T | CA404850551 | CRLF1 | c.962C>A (p.Ser321Tyr) c.427C>A c.896C>A (p.Ser299Tyr) | gnomAD v4 |
19 | g.18596685A>C | CA404850552 | CRLF1 | c.961T>G (p.Ser321Ala) c.426T>G c.895T>G (p.Ser299Ala) | |
19 | g.18596685A>G | CA404850553 | CRLF1 | c.961T>C (p.Ser321Pro) c.426T>C c.895T>C (p.Ser299Pro) | |
19 | g.18596685A>T | CA404850554 | CRLF1 | c.961T>A (p.Ser321Thr) c.426T>A c.895T>A (p.Ser299Thr) | |
19 | g.18596686G>A | CA9314046 | CRLF1 | c.960C>T (p.Gly320=) c.425C>T c.894C>T (p.Gly298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596686G>C | CA506116323 | CRLF1 | c.960C>G (p.Gly320=) c.425C>G c.894C>G (p.Gly298=) | dbSNP gnomAD v4 |
19 | g.18596686G= | CA2326432258 | CRLF1 | c.960C= (p.Gly320=) c.425C= c.894C= (p.Gly298=) | |
19 | g.18596686G>T | CA506116322 | CRLF1 | c.960C>A (p.Gly320=) c.425C>A c.894C>A (p.Gly298=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596687C>A | CA404850555 | CRLF1 | c.959G>T (p.Gly320Val) c.424G>T c.893G>T (p.Gly298Val) | |
19 | g.18596687C= | CA2326432259 | CRLF1 | c.959G= (p.Gly320=) c.424G= c.893G= (p.Gly298=) | |
19 | g.18596687C>G | CA404850556 | CRLF1 | c.959G>C (p.Gly320Ala) c.424G>C c.893G>C (p.Gly298Ala) | |
19 | g.18596687C>T | CA404850557 | CRLF1 | c.959G>A (p.Gly320Asp) c.424G>A c.893G>A (p.Gly298Asp) | dbSNP |
19 | g.18596688C>A | CA404850560 | CRLF1 | c.958G>T (p.Gly320Cys) c.423G>T c.892G>T (p.Gly298Cys) | |
19 | g.18596688C= | CA2326432260 | CRLF1 | c.958G= (p.Gly320=) c.423G= c.892G= (p.Gly298=) | |
19 | g.18596688C>G | CA404850558 | CRLF1 | c.958G>C (p.Gly320Arg) c.423G>C c.892G>C (p.Gly298Arg) | |
19 | g.18596688C>T | CA404850559 | CRLF1 | c.958G>A (p.Gly320Ser) c.423G>A c.892G>A (p.Gly298Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596689A= | CA2326432261 | CRLF1 | c.957T= (p.Tyr319=) c.422T= c.891T= (p.Tyr297=) | |
19 | g.18596689A>C | CA404850561 | CRLF1 | c.957T>G (p.Tyr319Ter) c.422T>G c.891T>G (p.Tyr297Ter) | gnomAD v4 |
19 | g.18596689A>G | CA506116327 | CRLF1 | c.957T>C (p.Tyr319=) c.422T>C c.891T>C (p.Tyr297=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596689A>T | CA404850562 | CRLF1 | c.957T>A (p.Tyr319Ter) c.422T>A c.891T>A (p.Tyr297Ter) | |
19 | g.18596690T>A | CA404850563 | CRLF1 | c.956A>T (p.Tyr319Phe) c.421A>T c.890A>T (p.Tyr297Phe) | |
19 | g.18596690T>C | CA404850564 | CRLF1 | c.956A>G (p.Tyr319Cys) c.421A>G c.890A>G (p.Tyr297Cys) | |
19 | g.18596690T>G | CA404850565 | CRLF1 | c.956A>C (p.Tyr319Ser) c.421A>C c.890A>C (p.Tyr297Ser) | |
19 | g.18596691A>C | CA404850566 | CRLF1 | c.955T>G (p.Tyr319Asp) c.420T>G c.889T>G (p.Tyr297Asp) | |
19 | g.18596691A>G | CA404850567 | CRLF1 | c.955T>C (p.Tyr319His) c.420T>C c.889T>C (p.Tyr297His) | |
19 | g.18596691A>T | CA404850568 | CRLF1 | c.955T>A (p.Tyr319Asn) c.420T>A c.889T>A (p.Tyr297Asn) | |
19 | g.18596692G>A | CA506116329 | CRLF1 | c.954C>T (p.Ile318=) c.419C>T c.888C>T (p.Ile296=) | dbSNP gnomAD v4 |
19 | g.18596692G>C | CA404850569 | CRLF1 | c.954C>G (p.Ile318Met) c.419C>G c.888C>G (p.Ile296Met) | |
19 | g.18596692G= | CA2326432262 | CRLF1 | c.954C= (p.Ile318=) c.419C= c.888C= (p.Ile296=) | |
19 | g.18596692G>T | CA506116330 | CRLF1 | c.954C>A (p.Ile318=) c.419C>A c.888C>A (p.Ile296=) | |
19 | g.18596693A>C | CA404850570 | CRLF1 | c.953T>G (p.Ile318Ser) c.418T>G c.887T>G (p.Ile296Ser) | |
19 | g.18596693A>G | CA404850571 | CRLF1 | c.953T>C (p.Ile318Thr) c.418T>C c.887T>C (p.Ile296Thr) | |
19 | g.18596693A>T | CA404850572 | CRLF1 | c.953T>A (p.Ile318Asn) c.418T>A c.887T>A (p.Ile296Asn) | |
19 | g.18596694T>A | CA404850575 | CRLF1 | c.952A>T (p.Ile318Phe) c.417A>T c.886A>T (p.Ile296Phe) | |
19 | g.18596694T>C | CA404850574 | CRLF1 | c.952A>G (p.Ile318Val) c.417A>G c.886A>G (p.Ile296Val) | |
19 | g.18596694T>G | CA404850573 | CRLF1 | c.952A>C (p.Ile318Leu) c.417A>C c.886A>C (p.Ile296Leu) | |
19 | g.18596695G>A | CA506116334 | CRLF1 | c.951C>T (p.Gly317=) c.416C>T c.885C>T (p.Gly295=) | gnomAD v4 |
19 | g.18596695G>C | CA506116335 | CRLF1 | c.951C>G (p.Gly317=) c.416C>G c.885C>G (p.Gly295=) | |
19 | g.18596695G>T | CA506116336 | CRLF1 | c.951C>A (p.Gly317=) c.416C>A c.885C>A (p.Gly295=) | |
19 | g.18596696C>A | CA404850576 | CRLF1 | c.950G>T (p.Gly317Val) c.415G>T c.884G>T (p.Gly295Val) | |
19 | g.18596696C>G | CA404850578 | CRLF1 | c.950G>C (p.Gly317Ala) c.415G>C c.884G>C (p.Gly295Ala) | |
19 | g.18596696C>T | CA404850577 | CRLF1 | c.950G>A (p.Gly317Asp) c.415G>A c.884G>A (p.Gly295Asp) | |
19 | g.18596697C>A | CA404850579 | CRLF1 | c.949G>T (p.Gly317Cys) c.414G>T c.883G>T (p.Gly295Cys) | |
19 | g.18596697C>G | CA404850580 | CRLF1 | c.949G>C (p.Gly317Arg) c.414G>C c.883G>C (p.Gly295Arg) | |
19 | g.18596697C>T | CA404850581 | CRLF1 | c.949G>A (p.Gly317Ser) c.414G>A c.883G>A (p.Gly295Ser) | gnomAD v4 |
19 | g.18596698A>C | CA404850582 | CRLF1 | c.948T>G (p.Phe316Leu) c.413T>G c.882T>G (p.Phe294Leu) | |
19 | g.18596698A>G | CA506116339 | CRLF1 | c.948T>C (p.Phe316=) c.413T>C c.882T>C (p.Phe294=) | |
19 | g.18596698A>T | CA404850583 | CRLF1 | c.948T>A (p.Phe316Leu) c.413T>A c.882T>A (p.Phe294Leu) | |
19 | g.18596699A>C | CA404850586 | CRLF1 | c.947T>G (p.Phe316Cys) c.412T>G c.881T>G (p.Phe294Cys) | |
19 | g.18596699A>G | CA404850585 | CRLF1 | c.947T>C (p.Phe316Ser) c.412T>C c.881T>C (p.Phe294Ser) | |
19 | g.18596699A>T | CA404850584 | CRLF1 | c.947T>A (p.Phe316Tyr) c.412T>A c.881T>A (p.Phe294Tyr) | |
19 | g.18596700A>C | CA404850587 | CRLF1 | c.946T>G (p.Phe316Val) c.411T>G c.880T>G (p.Phe294Val) | |
19 | g.18596700A>G | CA404850588 | CRLF1 | c.946T>C (p.Phe316Leu) c.411T>C c.880T>C (p.Phe294Leu) | |
19 | g.18596700A>T | CA404850589 | CRLF1 | c.946T>A (p.Phe316Ile) c.411T>A c.880T>A (p.Phe294Ile) | |
19 | g.18596701G>A | CA506116341 | CRLF1 | c.945C>T (p.Pro315=) c.410C>T c.879C>T (p.Pro293=) | dbSNP gnomAD v4 |
19 | g.18596701G>C | CA506116342 | CRLF1 | c.945C>G (p.Pro315=) c.410C>G c.879C>G (p.Pro293=) | |
19 | g.18596701G= | CA2326432263 | CRLF1 | c.945C= (p.Pro315=) c.410C= c.879C= (p.Pro293=) | |
19 | g.18596701G>T | CA506116343 | CRLF1 | c.945C>A (p.Pro315=) c.410C>A c.879C>A (p.Pro293=) | |
19 | g.18596702G>A | CA404850590 | CRLF1 | c.944C>T (p.Pro315Leu) c.409C>T c.878C>T (p.Pro293Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.18596702G>C | CA404850591 | CRLF1 | c.944C>G (p.Pro315Arg) c.409C>G c.878C>G (p.Pro293Arg) | |
19 | g.18596702G= | CA2326432264 | CRLF1 | c.944C= (p.Pro315=) c.409C= c.878C= (p.Pro293=) | |
19 | g.18596702G>T | CA404850592 | CRLF1 | c.944C>A (p.Pro315His) c.409C>A c.878C>A (p.Pro293His) | |
19 | g.18596703G>A | CA404850593 | CRLF1 | c.943C>T (p.Pro315Ser) c.408C>T c.877C>T (p.Pro293Ser) | gnomAD v4 |
19 | g.18596703G>C | CA404850595 | CRLF1 | c.943C>G (p.Pro315Ala) c.408C>G c.877C>G (p.Pro293Ala) | |
19 | g.18596703G>T | CA404850594 | CRLF1 | c.943C>A (p.Pro315Thr) c.408C>A c.877C>A (p.Pro293Thr) | |
19 | g.18596704G>A | CA506116345 | CRLF1 | c.942C>T (p.Asn314=) c.407C>T c.876C>T (p.Asn292=) | gnomAD v4 |
19 | g.18596704G>C | CA404850596 | CRLF1 | c.942C>G (p.Asn314Lys) c.407C>G c.876C>G (p.Asn292Lys) | |
19 | g.18596704G>T | CA404850597 | CRLF1 | c.942C>A (p.Asn314Lys) c.407C>A c.876C>A (p.Asn292Lys) | |
19 | g.18596705T>A | CA404850598 | CRLF1 | c.941A>T (p.Asn314Ile) c.406A>T c.875A>T (p.Asn292Ile) | |
19 | g.18596705T>C | CA404850599 | CRLF1 | c.941A>G (p.Asn314Ser) c.406A>G c.875A>G (p.Asn292Ser) | |
19 | g.18596705T>G | CA404850600 | CRLF1 | c.941A>C (p.Asn314Thr) c.406A>C c.875A>C (p.Asn292Thr) | |
19 | g.18596706T>A | CA404850601 | CRLF1 | c.940A>T (p.Asn314Tyr) c.405A>T c.874A>T (p.Asn292Tyr) | |
19 | g.18596706T>C | CA9314047 | CRLF1 | c.940A>G (p.Asn314Asp) c.405A>G c.874A>G (p.Asn292Asp) | dbSNP ExAC gnomAD v2 |
19 | g.18596706T>G | CA404850602 | CRLF1 | c.940A>C (p.Asn314His) c.405A>C c.874A>C (p.Asn292His) | |
19 | g.18596706T= | CA2326432265 | CRLF1 | c.940A= (p.Asn314=) c.405A= c.874A= (p.Asn292=) | |
19 | g.18596707G>A | CA506116347 | CRLF1 | c.939C>T (p.Cys313=) c.404C>T c.873C>T (p.Cys291=) | |
19 | g.18596707G>C | CA404850603 | CRLF1 | c.939C>G (p.Cys313Trp) c.404C>G c.873C>G (p.Cys291Trp) | |
19 | g.18596707G>T | CA404850604 | CRLF1 | c.939C>A (p.Cys313Ter) c.404C>A c.873C>A (p.Cys291Ter) | |
19 | g.18596707_18596708delinsGC | CA2326432266 | CRLF1 | c.938_939delinsGC (p.Cys313=) c.403_404delinsGC c.872_873delinsGC (p.Cys291=) | |
19 | g.18596708del | CA632626055 | CRLF1 | c.938del (p.Cys313SerfsTer?) c.403del c.872del (p.Cys291SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596708C>A | CA404850607 | CRLF1 | c.938G>T (p.Cys313Phe) c.403G>T c.872G>T (p.Cys291Phe) | |
19 | g.18596708C>G | CA404850606 | CRLF1 | c.938G>C (p.Cys313Ser) c.403G>C c.872G>C (p.Cys291Ser) | |
19 | g.18596708C>T | CA404850605 | CRLF1 | c.938G>A (p.Cys313Tyr) c.403G>A c.872G>A (p.Cys291Tyr) | |
19 | g.18596709A>C | CA404850608 | CRLF1 | c.937T>G (p.Cys313Gly) c.402T>G c.871T>G (p.Cys291Gly) | |
19 | g.18596709A>G | CA404850609 | CRLF1 | c.937T>C (p.Cys313Arg) c.402T>C c.871T>C (p.Cys291Arg) | |
19 | g.18596709A>T | CA404850610 | CRLF1 | c.937T>A (p.Cys313Ser) c.402T>A c.871T>A (p.Cys291Ser) | |
19 | g.18596710G>A | CA506116353 | CRLF1 | c.936C>T (p.Arg312=) c.401C>T c.870C>T (p.Arg290=) | |
19 | g.18596710G>C | CA506116352 | CRLF1 | c.936C>G (p.Arg312=) c.401C>G c.870C>G (p.Arg290=) | |
19 | g.18596710G>T | CA506116351 | CRLF1 | c.936C>A (p.Arg312=) c.401C>A c.870C>A (p.Arg290=) | |
19 | g.18596711C>A | CA9314048 | CRLF1 | c.935G>T (p.Arg312Leu) c.400G>T c.869G>T (p.Arg290Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596711C= | CA2326432267 | CRLF1 | c.935G= (p.Arg312=) c.400G= c.869G= (p.Arg290=) | |
19 | g.18596711C>G | CA404850611 | CRLF1 | c.935G>C (p.Arg312Pro) c.400G>C c.869G>C (p.Arg290Pro) | dbSNP gnomAD v4 |
19 | g.18596711C>T | CA342071 | CRLF1 | c.935G>A (p.Arg312His) c.400G>A c.869G>A (p.Arg290His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596712G>A | CA9314049 | CRLF1 | c.934C>T (p.Arg312Cys) c.399C>T c.868C>T (p.Arg290Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596712G>C | CA404850612 | CRLF1 | c.934C>G (p.Arg312Gly) c.399C>G c.868C>G (p.Arg290Gly) | gnomAD v4 |
19 | g.18596712G= | CA2326432268 | CRLF1 | c.934C= (p.Arg312=) c.399C= c.868C= (p.Arg290=) | |
19 | g.18596712G>T | CA404850613 | CRLF1 | c.934C>A (p.Arg312Ser) c.399C>A c.868C>A (p.Arg290Ser) | |
19 | g.18596713C>A | CA506116355 | CRLF1 | c.933G>T (p.Val311=) c.398G>T c.867G>T (p.Val289=) | |
19 | g.18596713C>G | CA506116356 | CRLF1 | c.933G>C (p.Val311=) c.398G>C c.867G>C (p.Val289=) | |
19 | g.18596713C>T | CA506116357 | CRLF1 | c.933G>A (p.Val311=) c.398G>A c.867G>A (p.Val289=) | gnomAD v4 |
19 | g.18596714A>C | CA404850614 | CRLF1 | c.932T>G (p.Val311Gly) c.397T>G c.866T>G (p.Val289Gly) | |
19 | g.18596714A>G | CA404850615 | CRLF1 | c.932T>C (p.Val311Ala) c.397T>C c.866T>C (p.Val289Ala) | |
19 | g.18596714A>T | CA404850616 | CRLF1 | c.932T>A (p.Val311Glu) c.397T>A c.866T>A (p.Val289Glu) |