Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596956T>A | CA404850928 | CRLF1 | c.791A>T (p.Lys264Met) c.256A>T c.725A>T (p.Lys242Met) | |
19 | g.18596956T>C | CA404850929 | CRLF1 | c.791A>G (p.Lys264Arg) c.256A>G c.725A>G (p.Lys242Arg) | |
19 | g.18596956T>G | CA404850930 | CRLF1 | c.791A>C (p.Lys264Thr) c.256A>C c.725A>C (p.Lys242Thr) | |
19 | g.18596957T>A | CA404850931 | CRLF1 | c.790A>T (p.Lys264Ter) c.255A>T c.724A>T (p.Lys242Ter) | |
19 | g.18596957T>C | CA404850932 | CRLF1 | c.790A>G (p.Lys264Glu) c.255A>G c.724A>G (p.Lys242Glu) | gnomAD v4 |
19 | g.18596957T>G | CA404850933 | CRLF1 | c.790A>C (p.Lys264Gln) c.255A>C c.724A>C (p.Lys242Gln) | |
19 | g.18596958G>A | CA506116380 | CRLF1 | c.789C>T (p.Leu263=) c.254C>T c.723C>T (p.Leu241=) | gnomAD v4 |
19 | g.18596958G>C | CA506116378 | CRLF1 | c.789C>G (p.Leu263=) c.254C>G c.723C>G (p.Leu241=) | dbSNP |
19 | g.18596958G= | CA2326432411 | CRLF1 | c.789C= (p.Leu263=) c.254C= c.723C= (p.Leu241=) | |
19 | g.18596958G>T | CA506116379 | CRLF1 | c.789C>A (p.Leu263=) c.254C>A c.723C>A (p.Leu241=) | |
19 | g.18596959A>C | CA404850936 | CRLF1 | c.788T>G (p.Leu263Arg) c.253T>G c.722T>G (p.Leu241Arg) | |
19 | g.18596959A>G | CA404850934 | CRLF1 | c.788T>C (p.Leu263Pro) c.253T>C c.722T>C (p.Leu241Pro) | |
19 | g.18596959A>T | CA404850935 | CRLF1 | c.788T>A (p.Leu263His) c.253T>A c.722T>A (p.Leu241His) | |
19 | g.18596960G>A | CA404850937 | CRLF1 | c.787C>T (p.Leu263Phe) c.252C>T c.721C>T (p.Leu241Phe) | |
19 | g.18596960G>C | CA404850938 | CRLF1 | c.787C>G (p.Leu263Val) c.252C>G c.721C>G (p.Leu241Val) | |
19 | g.18596960G>T | CA404850939 | CRLF1 | c.787C>A (p.Leu263Ile) c.252C>A c.721C>A (p.Leu241Ile) | |
19 | g.18596961G>A | CA506116384 | CRLF1 | c.786C>T (p.Ala262=) c.251C>T c.720C>T (p.Ala240=) | ClinVar dbSNP |
19 | g.18596961G>C | CA506116386 | CRLF1 | c.786C>G (p.Ala262=) c.251C>G c.720C>G (p.Ala240=) | |
19 | g.18596961G= | CA2326432412 | CRLF1 | c.786C= (p.Ala262=) c.251C= c.720C= (p.Ala240=) | |
19 | g.18596961G>T | CA506116387 | CRLF1 | c.786C>A (p.Ala262=) c.251C>A c.720C>A (p.Ala240=) | |
19 | g.18596962G>A | CA9314105 | CRLF1 | c.785C>T (p.Ala262Val) c.250C>T c.719C>T (p.Ala240Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596962G>C | CA404850940 | CRLF1 | c.785C>G (p.Ala262Gly) c.250C>G c.719C>G (p.Ala240Gly) | gnomAD v4 |
19 | g.18596962G= | CA2326432413 | CRLF1 | c.785C= (p.Ala262=) c.250C= c.719C= (p.Ala240=) | |
19 | g.18596962G>T | CA404850941 | CRLF1 | c.785C>A (p.Ala262Asp) c.250C>A c.719C>A (p.Ala240Asp) | |
19 | g.18596963C>A | CA404850942 | CRLF1 | c.784G>T (p.Ala262Ser) c.249G>T c.718G>T (p.Ala240Ser) | |
19 | g.18596963C>G | CA404850943 | CRLF1 | c.784G>C (p.Ala262Pro) c.249G>C c.718G>C (p.Ala240Pro) | |
19 | g.18596963C>T | CA404850944 | CRLF1 | c.784G>A (p.Ala262Thr) c.249G>A c.718G>A (p.Ala240Thr) | |
19 | g.18596964G>A | CA506116390 | CRLF1 | c.783C>T (p.Pro261=) c.248C>T c.717C>T (p.Pro239=) | dbSNP gnomAD v4 |
19 | g.18596964G>C | CA506116392 | CRLF1 | c.783C>G (p.Pro261=) c.248C>G c.717C>G (p.Pro239=) | dbSNP gnomAD v4 |
19 | g.18596964G= | CA2326432414 | CRLF1 | c.783C= (p.Pro261=) c.248C= c.717C= (p.Pro239=) | |
19 | g.18596964G>T | CA506116393 | CRLF1 | c.783C>A (p.Pro261=) c.248C>A c.717C>A (p.Pro239=) | |
19 | g.18596965G>A | CA404850945 | CRLF1 | c.782C>T (p.Pro261Leu) c.247C>T c.716C>T (p.Pro239Leu) | gnomAD v4 |
19 | g.18596965G>C | CA404850946 | CRLF1 | c.782C>G (p.Pro261Arg) c.247C>G c.716C>G (p.Pro239Arg) | |
19 | g.18596965G>T | CA404850947 | CRLF1 | c.782C>A (p.Pro261His) c.247C>A c.716C>A (p.Pro239His) | |
19 | g.18596966G>A | CA9314106 | CRLF1 | c.781C>T (p.Pro261Ser) c.246C>T c.715C>T (p.Pro239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596966G>C | CA404850949 | CRLF1 | c.781C>G (p.Pro261Ala) c.246C>G c.715C>G (p.Pro239Ala) | |
19 | g.18596966G= | CA2326432415 | CRLF1 | c.781C= (p.Pro261=) c.246C= c.715C= (p.Pro239=) | |
19 | g.18596966G>T | CA404850948 | CRLF1 | c.781C>A (p.Pro261Thr) c.246C>A c.715C>A (p.Pro239Thr) | |
19 | g.18596967T>A | CA506116399 | CRLF1 | c.780A>T (p.Pro260=) c.245A>T c.714A>T (p.Pro238=) | |
19 | g.18596967T>C | CA506116400 | CRLF1 | c.780A>G (p.Pro260=) c.245A>G c.714A>G (p.Pro238=) | |
19 | g.18596967T>G | CA506116401 | CRLF1 | c.780A>C (p.Pro260=) c.245A>C c.714A>C (p.Pro238=) | |
19 | g.18596968G>A | CA404850951 | CRLF1 | c.779C>T (p.Pro260Leu) c.244C>T c.713C>T (p.Pro238Leu) | dbSNP gnomAD v4 |
19 | g.18596968G>C | CA404850950 | CRLF1 | c.779C>G (p.Pro260Arg) c.244C>G c.713C>G (p.Pro238Arg) | |
19 | g.18596968G>T | CA404850952 | CRLF1 | c.779C>A (p.Pro260Gln) c.244C>A c.713C>A (p.Pro238Gln) | |
19 | g.18596969G>A | CA404850953 | CRLF1 | c.778C>T (p.Pro260Ser) c.243C>T c.712C>T (p.Pro238Ser) | |
19 | g.18596969G>C | CA404850954 | CRLF1 | c.778C>G (p.Pro260Ala) c.243C>G c.712C>G (p.Pro238Ala) | |
19 | g.18596969G>T | CA404850955 | CRLF1 | c.778C>A (p.Pro260Thr) c.243C>A c.712C>A (p.Pro238Thr) | |
19 | g.18596970C>A | CA506116409 | CRLF1 | c.777G>T (p.Ser259=) c.242G>T c.711G>T (p.Ser237=) | |
19 | g.18596970C= | CA2326432416 | CRLF1 | c.777G= (p.Ser259=) c.242G= c.711G= (p.Ser237=) | |
19 | g.18596970C>G | CA506116410 | CRLF1 | c.777G>C (p.Ser259=) c.242G>C c.711G>C (p.Ser237=) | |
19 | g.18596970C>T | CA9314107 | CRLF1 | c.777G>A (p.Ser259=) c.242G>A c.711G>A (p.Ser237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596971del | CA2583603060 | CRLF1 | c.776del (p.Ser259CysfsTer?) c.241del c.710del (p.Ser237CysfsTer?) | gnomAD v4 |
19 | g.18596971G>A | CA404850956 | CRLF1 | c.776C>T (p.Ser259Leu) c.241C>T c.710C>T (p.Ser237Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596971G>C | CA404850957 | CRLF1 | c.776C>G (p.Ser259Trp) c.241C>G c.710C>G (p.Ser237Trp) | |
19 | g.18596971G= | CA2326432417 | CRLF1 | c.776C= (p.Ser259=) c.241C= c.710C= (p.Ser237=) | |
19 | g.18596971G>T | CA404850958 | CRLF1 | c.776C>A (p.Ser259Ter) c.241C>A c.710C>A (p.Ser237Ter) | ClinVar dbSNP |
19 | g.18596972A>C | CA404850959 | CRLF1 | c.775T>G (p.Ser259Ala) c.240T>G c.709T>G (p.Ser237Ala) | |
19 | g.18596972A>G | CA404850960 | CRLF1 | c.775T>C (p.Ser259Pro) c.240T>C c.709T>C (p.Ser237Pro) | |
19 | g.18596972A>T | CA404850961 | CRLF1 | c.775T>A (p.Ser259Thr) c.240T>A c.709T>A (p.Ser237Thr) | |
19 | g.18596973C>A | CA506116412 | CRLF1 | c.774G>T (p.Val258=) c.239G>T c.708G>T (p.Val236=) | |
19 | g.18596973C>G | CA506116414 | CRLF1 | c.774G>C (p.Val258=) c.239G>C c.708G>C (p.Val236=) | |
19 | g.18596973C>T | CA506116416 | CRLF1 | c.774G>A (p.Val258=) c.239G>A c.708G>A (p.Val236=) | |
19 | g.18596974A= | CA2326432418 | CRLF1 | c.773T= (p.Val258=) c.238T= c.707T= (p.Val236=) | |
19 | g.18596974A>C | CA404850962 | CRLF1 | c.773T>G (p.Val258Gly) c.238T>G c.707T>G (p.Val236Gly) | |
19 | g.18596974A>G | CA404850963 | CRLF1 | c.773T>C (p.Val258Ala) c.238T>C c.707T>C (p.Val236Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596974A>T | CA404850964 | CRLF1 | c.773T>A (p.Val258Glu) c.238T>A c.707T>A (p.Val236Glu) | |
19 | g.18596975C>A | CA404850965 | CRLF1 | c.772G>T (p.Val258Leu) c.237G>T c.706G>T (p.Val236Leu) | gnomAD v4 |
19 | g.18596975C= | CA2326432419 | CRLF1 | c.772G= (p.Val258=) c.237G= c.706G= (p.Val236=) | |
19 | g.18596975C>G | CA404850967 | CRLF1 | c.772G>C (p.Val258Leu) c.237G>C c.706G>C (p.Val236Leu) | dbSNP |
19 | g.18596975C>T | CA404850966 | CRLF1 | c.772G>A (p.Val258Met) c.237G>A c.706G>A (p.Val236Met) | dbSNP |
19 | g.18596976C>A | CA404850968 | CRLF1 | c.771G>T (p.Trp257Cys) c.236G>T c.705G>T (p.Trp235Cys) | dbSNP |
19 | g.18596976C= | CA2326432420 | CRLF1 | c.771G= (p.Trp257=) c.236G= c.705G= (p.Trp235=) | |
19 | g.18596976C>G | CA404850969 | CRLF1 | c.771G>C (p.Trp257Cys) c.236G>C c.705G>C (p.Trp235Cys) | |
19 | g.18596976C>T | CA404850970 | CRLF1 | c.771G>A (p.Trp257Ter) c.236G>A c.705G>A (p.Trp235Ter) | ClinVar dbSNP |
19 | g.18596977C>A | CA404850971 | CRLF1 | c.770G>T (p.Trp257Leu) c.235G>T c.704G>T (p.Trp235Leu) | |
19 | g.18596977C>G | CA404850972 | CRLF1 | c.770G>C (p.Trp257Ser) c.235G>C c.704G>C (p.Trp235Ser) | |
19 | g.18596977C>T | CA404850973 | CRLF1 | c.770G>A (p.Trp257Ter) c.235G>A c.704G>A (p.Trp235Ter) | |
19 | g.18596978A>C | CA404850974 | CRLF1 | c.769T>G (p.Trp257Gly) c.234T>G c.703T>G (p.Trp235Gly) | |
19 | g.18596978A>G | CA404850975 | CRLF1 | c.769T>C (p.Trp257Arg) c.234T>C c.703T>C (p.Trp235Arg) | |
19 | g.18596978A>T | CA404850976 | CRLF1 | c.769T>A (p.Trp257Arg) c.234T>A c.703T>A (p.Trp235Arg) | |
19 | g.18596979G>A | CA506116422 | CRLF1 | c.768C>T (p.Arg256=) c.233C>T c.702C>T (p.Arg234=) | |
19 | g.18596979G>C | CA506116421 | CRLF1 | c.768C>G (p.Arg256=) c.233C>G c.702C>G (p.Arg234=) | |
19 | g.18596979G= | CA2326432421 | CRLF1 | c.768C= (p.Arg256=) c.233C= c.702C= (p.Arg234=) | |
19 | g.18596979G>T | CA9314108 | CRLF1 | c.768C>A (p.Arg256=) c.233C>A c.702C>A (p.Arg234=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596980C>A | CA404850978 | CRLF1 | c.767G>T (p.Arg256Leu) c.232G>T c.701G>T (p.Arg234Leu) | dbSNP gnomAD v4 |
19 | g.18596980C= | CA2326432422 | CRLF1 | c.767G= (p.Arg256=) c.232G= c.701G= (p.Arg234=) | |
19 | g.18596980C>G | CA404850977 | CRLF1 | c.767G>C (p.Arg256Pro) c.232G>C c.701G>C (p.Arg234Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596980C>T | CA9314109 | CRLF1 | c.767G>A (p.Arg256His) c.232G>A c.701G>A (p.Arg234His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596981G>A | CA9314110 | CRLF1 | c.766C>T (p.Arg256Cys) c.231C>T c.700C>T (p.Arg234Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18596981G>C | CA404850979 | CRLF1 | c.766C>G (p.Arg256Gly) c.231C>G c.700C>G (p.Arg234Gly) | |
19 | g.18596981G= | CA2326432423 | CRLF1 | c.766C= (p.Arg256=) c.231C= c.700C= (p.Arg234=) | |
19 | g.18596981G>T | CA404850980 | CRLF1 | c.766C>A (p.Arg256Ser) c.231C>A c.700C>A (p.Arg234Ser) | |
19 | g.18596982C>A | CA506116424 | CRLF1 | c.765G>T (p.Val255=) c.230G>T c.699G>T (p.Val233=) | |
19 | g.18596982C>G | CA506116426 | CRLF1 | c.765G>C (p.Val255=) c.230G>C c.699G>C (p.Val233=) | |
19 | g.18596982C>T | CA506116427 | CRLF1 | c.765G>A (p.Val255=) c.230G>A c.699G>A (p.Val233=) | |
19 | g.18596983A>C | CA404850981 | CRLF1 | c.764T>G (p.Val255Gly) c.229T>G c.698T>G (p.Val233Gly) | |
19 | g.18596983A>G | CA404850982 | CRLF1 | c.764T>C (p.Val255Ala) c.229T>C c.698T>C (p.Val233Ala) | gnomAD v4 |
19 | g.18596983A>T | CA404850983 | CRLF1 | c.764T>A (p.Val255Glu) c.229T>A c.698T>A (p.Val233Glu) | |
19 | g.18596984C>A | CA404850984 | CRLF1 | c.763G>T (p.Val255Leu) c.228G>T c.697G>T (p.Val233Leu) | gnomAD v4 |
19 | g.18596984C= | CA2326432424 | CRLF1 | c.763G= (p.Val255=) c.228G= c.697G= (p.Val233=) | |
19 | g.18596984C>G | CA9314111 | CRLF1 | c.763G>C (p.Val255Leu) c.228G>C c.697G>C (p.Val233Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596984C>T | CA404850985 | CRLF1 | c.763G>A (p.Val255Met) c.228G>A c.697G>A (p.Val233Met) | COSMIC |
19 | g.18596984_18596985delinsCG | CA2326432425 | CRLF1 | c.762_763delinsCG (p.Ser254=) c.227_228delinsCG c.696_697delinsCG (p.Ser232=) | |
19 | g.18596985del | CA632626087 | CRLF1 | c.762del (p.Ser254ArgfsTer?) c.227del c.696del (p.Ser232ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596985G>A | CA9314112 | CRLF1 | c.762C>T (p.Ser254=) c.227C>T c.696C>T (p.Ser232=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596985G>C | CA404850986 | CRLF1 | c.762C>G (p.Ser254Arg) c.227C>G c.696C>G (p.Ser232Arg) | gnomAD v4 |
19 | g.18596985G= | CA2326432426 | CRLF1 | c.762C= (p.Ser254=) c.227C= c.696C= (p.Ser232=) | |
19 | g.18596985G>T | CA9314113 | CRLF1 | c.762C>A (p.Ser254Arg) c.227C>A c.696C>A (p.Ser232Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596985dup | CA2583603061 | CRLF1 | c.762dup (p.Val255ArgfsTer?) c.227dup c.696dup (p.Val233ArgfsTer?) | gnomAD v4 |
19 | g.18596986C>A | CA404850987 | CRLF1 | c.761G>T (p.Ser254Ile) c.226G>T c.695G>T (p.Ser232Ile) | |
19 | g.18596986C= | CA2326432427 | CRLF1 | c.761G= (p.Ser254=) c.226G= c.695G= (p.Ser232=) | |
19 | g.18596986C>G | CA9314114 | CRLF1 | c.761G>C (p.Ser254Thr) c.226G>C c.695G>C (p.Ser232Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596986C>T | CA306260581 | CRLF1 | c.761G>A (p.Ser254Asn) c.226G>A c.695G>A (p.Ser232Asn) | dbSNP gnomAD v2 |
19 | g.18596987T>A | CA404850988 | CRLF1 | c.760A>T (p.Ser254Cys) c.225A>T c.694A>T (p.Ser232Cys) | gnomAD v4 |
19 | g.18596987T>C | CA404850989 | CRLF1 | c.760A>G (p.Ser254Gly) c.225A>G c.694A>G (p.Ser232Gly) | |
19 | g.18596987T>G | CA404850990 | CRLF1 | c.760A>C (p.Ser254Arg) c.225A>C c.694A>C (p.Ser232Arg) | |
19 | g.18596988C>A | CA506116438 | CRLF1 | c.759G>T (p.Leu253=) c.224G>T c.693G>T (p.Leu231=) | |
19 | g.18596988C>G | CA506116440 | CRLF1 | c.759G>C (p.Leu253=) c.224G>C c.693G>C (p.Leu231=) | |
19 | g.18596988C>T | CA506116441 | CRLF1 | c.759G>A (p.Leu253=) c.224G>A c.693G>A (p.Leu231=) | |
19 | g.18596989A>C | CA404850991 | CRLF1 | c.758T>G (p.Leu253Arg) c.223T>G c.692T>G (p.Leu231Arg) | |
19 | g.18596989A>G | CA404850992 | CRLF1 | c.758T>C (p.Leu253Pro) c.223T>C c.692T>C (p.Leu231Pro) | |
19 | g.18596989A>T | CA404850993 | CRLF1 | c.758T>A (p.Leu253Gln) c.223T>A c.692T>A (p.Leu231Gln) | |
19 | g.18596990G>A | CA506116448 | CRLF1 | c.757C>T (p.Leu253=) c.222C>T c.691C>T (p.Leu231=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596990G>C | CA404850994 | CRLF1 | c.757C>G (p.Leu253Val) c.222C>G c.691C>G (p.Leu231Val) | |
19 | g.18596990G= | CA2326432428 | CRLF1 | c.757C= (p.Leu253=) c.222C= c.691C= (p.Leu231=) | |
19 | g.18596990G>T | CA404850995 | CRLF1 | c.757C>A (p.Leu253Met) c.222C>A c.691C>A (p.Leu231Met) | |
19 | g.18596990_18596991del | CA2576724699 | CRLF1 | c.756_757del (p.Gln252HisfsTer?) c.221_222del c.690_691del (p.Gln230HisfsTer?) | gnomAD v4 |
19 | g.18596991C>A | CA404850996 | CRLF1 | c.756G>T (p.Gln252His) c.221G>T c.690G>T (p.Gln230His) | |
19 | g.18596991C>G | CA404850997 | CRLF1 | c.756G>C (p.Gln252His) c.221G>C c.690G>C (p.Gln230His) | |
19 | g.18596991C>T | CA506116453 | CRLF1 | c.756G>A (p.Gln252=) c.221G>A c.690G>A (p.Gln230=) | |
19 | g.18596992T>A | CA9314115 | CRLF1 | c.755A>T (p.Gln252Leu) c.220A>T c.689A>T (p.Gln230Leu) | dbSNP ExAC gnomAD v2 |
19 | g.18596992T>C | CA404850998 | CRLF1 | c.755A>G (p.Gln252Arg) c.220A>G c.689A>G (p.Gln230Arg) | |
19 | g.18596992T>G | CA404850999 | CRLF1 | c.755A>C (p.Gln252Pro) c.220A>C c.689A>C (p.Gln230Pro) | |
19 | g.18596992T= | CA2326432429 | CRLF1 | c.755A= (p.Gln252=) c.220A= c.689A= (p.Gln230=) | |
19 | g.18596993G>A | CA404851001 | CRLF1 | c.754C>T (p.Gln252Ter) c.219C>T c.688C>T (p.Gln230Ter) | |
19 | g.18596993G>C | CA404851002 | CRLF1 | c.754C>G (p.Gln252Glu) c.219C>G c.688C>G (p.Gln230Glu) | dbSNP |
19 | g.18596993G= | CA2326432430 | CRLF1 | c.754C= (p.Gln252=) c.219C= c.688C= (p.Gln230=) | |
19 | g.18596993G>T | CA404851000 | CRLF1 | c.754C>A (p.Gln252Lys) c.219C>A c.688C>A (p.Gln230Lys) | |
19 | g.18596994G>A | CA506116456 | CRLF1 | c.753C>T (p.Asp251=) c.218C>T c.687C>T (p.Asp229=) | |
19 | g.18596994G>C | CA404851003 | CRLF1 | c.753C>G (p.Asp251Glu) c.218C>G c.687C>G (p.Asp229Glu) | |
19 | g.18596994G>T | CA404851004 | CRLF1 | c.753C>A (p.Asp251Glu) c.218C>A c.687C>A (p.Asp229Glu) | |
19 | g.18596995T>A | CA404851005 | CRLF1 | c.752A>T (p.Asp251Val) c.217A>T c.686A>T (p.Asp229Val) | |
19 | g.18596995T>C | CA404851006 | CRLF1 | c.752A>G (p.Asp251Gly) c.217A>G c.686A>G (p.Asp229Gly) | |
19 | g.18596995T>G | CA404851007 | CRLF1 | c.752A>C (p.Asp251Ala) c.217A>C c.686A>C (p.Asp229Ala) | |
19 | g.18596996C>A | CA404851008 | CRLF1 | c.751G>T (p.Asp251Tyr) c.216G>T c.685G>T (p.Asp229Tyr) | |
19 | g.18596996C>G | CA404851009 | CRLF1 | c.751G>C (p.Asp251His) c.216G>C c.685G>C (p.Asp229His) | |
19 | g.18596996C>T | CA404851010 | CRLF1 | c.751G>A (p.Asp251Asn) c.216G>A c.685G>A (p.Asp229Asn) | |
19 | g.18596997C>A | CA404851011 | CRLF1 | c.750G>T (p.Glu250Asp) c.215G>T c.684G>T (p.Glu228Asp) | |
19 | g.18596997C>G | CA404851012 | CRLF1 | c.750G>C (p.Glu250Asp) c.215G>C c.684G>C (p.Glu228Asp) | |
19 | g.18596997C>T | CA506116463 | CRLF1 | c.750G>A (p.Glu250=) c.215G>A c.684G>A (p.Glu228=) | |
19 | g.18596998T>A | CA404851013 | CRLF1 | c.749A>T (p.Glu250Val) c.214A>T c.683A>T (p.Glu228Val) | |
19 | g.18596998T>C | CA9314116 | CRLF1 | c.749A>G (p.Glu250Gly) c.214A>G c.683A>G (p.Glu228Gly) | dbSNP ExAC |
19 | g.18596998T>G | CA404851014 | CRLF1 | c.749A>C (p.Glu250Ala) c.214A>C c.683A>C (p.Glu228Ala) | |
19 | g.18596998T= | CA2326432431 | CRLF1 | c.749A= (p.Glu250=) c.214A= c.683A= (p.Glu228=) | |
19 | g.18596999C>A | CA404851017 | CRLF1 | c.748G>T (p.Glu250Ter) c.213G>T c.682G>T (p.Glu228Ter) | |
19 | g.18596999C>G | CA404851016 | CRLF1 | c.748G>C (p.Glu250Gln) c.213G>C c.682G>C (p.Glu228Gln) | |
19 | g.18596999C>T | CA404851015 | CRLF1 | c.748G>A (p.Glu250Lys) c.213G>A c.682G>A (p.Glu228Lys) | |
19 | g.18597000C>A | CA9314117 | CRLF1 | c.747G>T (p.Leu249=) c.212G>T c.681G>T (p.Leu227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18597000C= | CA2326432432 | CRLF1 | c.747G= (p.Leu249=) c.212G= c.681G= (p.Leu227=) | |
19 | g.18597000C>G | CA506116467 | CRLF1 | c.747G>C (p.Leu249=) c.212G>C c.681G>C (p.Leu227=) | |
19 | g.18597000C>T | CA506116469 | CRLF1 | c.747G>A (p.Leu249=) c.212G>A c.681G>A (p.Leu227=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597001A= | CA2326432433 | CRLF1 | c.746T= (p.Leu249=) c.211T= c.680T= (p.Leu227=) | |
19 | g.18597001A>C | CA404851018 | CRLF1 | c.746T>G (p.Leu249Arg) c.211T>G c.680T>G (p.Leu227Arg) | |
19 | g.18597001A>G | CA404851019 | CRLF1 | c.746T>C (p.Leu249Pro) c.211T>C c.680T>C (p.Leu227Pro) | |
19 | g.18597001A>T | CA404851020 | CRLF1 | c.746T>A (p.Leu249Gln) c.211T>A c.680T>A (p.Leu227Gln) | dbSNP |
19 | g.18597002G>A | CA506116471 | CRLF1 | c.745C>T (p.Leu249=) c.210C>T c.679C>T (p.Leu227=) | |
19 | g.18597002G>C | CA404851021 | CRLF1 | c.745C>G (p.Leu249Val) c.210C>G c.679C>G (p.Leu227Val) | |
19 | g.18597002G>T | CA404851022 | CRLF1 | c.745C>A (p.Leu249Met) c.210C>A c.679C>A (p.Leu227Met) | |
19 | g.18597003G>A | CA506116473 | CRLF1 | c.744C>T (p.Gly248=) c.209C>T c.678C>T (p.Gly226=) | |
19 | g.18597003G>C | CA506116474 | CRLF1 | c.744C>G (p.Gly248=) c.209C>G c.678C>G (p.Gly226=) | |
19 | g.18597003G>T | CA506116476 | CRLF1 | c.744C>A (p.Gly248=) c.209C>A c.678C>A (p.Gly226=) | gnomAD v4 |
19 | g.18597004C>A | CA404851023 | CRLF1 | c.743G>T (p.Gly248Val) c.208G>T c.677G>T (p.Gly226Val) | |
19 | g.18597004C= | CA2326432434 | CRLF1 | c.743G= (p.Gly248=) c.208G= c.677G= (p.Gly226=) | |
19 | g.18597004C>G | CA404851024 | CRLF1 | c.743G>C (p.Gly248Ala) c.208G>C c.677G>C (p.Gly226Ala) | gnomAD v4 |
19 | g.18597004C>T | CA9314118 | CRLF1 | c.743G>A (p.Gly248Asp) c.208G>A c.677G>A (p.Gly226Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18597005C>A | CA404851025 | CRLF1 | c.742G>T (p.Gly248Cys) c.207G>T c.676G>T (p.Gly226Cys) | |
19 | g.18597005C= | CA2326432435 | CRLF1 | c.742G= (p.Gly248=) c.207G= c.676G= (p.Gly226=) | |
19 | g.18597005C>G | CA404851026 | CRLF1 | c.742G>C (p.Gly248Arg) c.207G>C c.676G>C (p.Gly226Arg) | |
19 | g.18597005C>T | CA404851027 | CRLF1 | c.742G>A (p.Gly248Ser) c.207G>A c.676G>A (p.Gly226Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597006C>A | CA506116479 | CRLF1 | c.741G>T (p.Gly247=) c.206G>T c.675G>T (p.Gly225=) | |
19 | g.18597006C= | CA2326432436 | CRLF1 | c.741G= (p.Gly247=) c.206G= c.675G= (p.Gly225=) | |
19 | g.18597006C>G | CA506116481 | CRLF1 | c.741G>C (p.Gly247=) c.206G>C c.675G>C (p.Gly225=) | |
19 | g.18597006C>T | CA506116484 | CRLF1 | c.741G>A (p.Gly247=) c.206G>A c.675G>A (p.Gly225=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597007C>A | CA404851028 | CRLF1 | c.740G>T (p.Gly247Val) c.205G>T c.674G>T (p.Gly225Val) | |
19 | g.18597007C= | CA2326432437 | CRLF1 | c.740G= (p.Gly247=) c.205G= c.674G= (p.Gly225=) | |
19 | g.18597007C>G | CA404851029 | CRLF1 | c.740G>C (p.Gly247Ala) c.205G>C c.674G>C (p.Gly225Ala) | gnomAD v4 |
19 | g.18597007C>T | CA404851030 | CRLF1 | c.740G>A (p.Gly247Glu) c.205G>A c.674G>A (p.Gly225Glu) | COSMIC |
19 | g.18597008C>A | CA404851031 | CRLF1 | c.739G>T (p.Gly247Trp) c.204G>T c.673G>T (p.Gly225Trp) | |
19 | g.18597008C= | CA2326432438 | CRLF1 | c.739G= (p.Gly247=) c.204G= c.673G= (p.Gly225=) | |
19 | g.18597008C>G | CA404851032 | CRLF1 | c.739G>C (p.Gly247Arg) c.204G>C c.673G>C (p.Gly225Arg) | gnomAD v4 |
19 | g.18597008C>T | CA306260589 | CRLF1 | c.739G>A (p.Gly247Arg) c.204G>A c.673G>A (p.Gly225Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597012_18597013insGCGACG | CA994214199 | CRLF1 | c.739_740insCCGTCG (p.Val246_Gly247insAlaVal) c.204_205insCCGTCG c.673_674insCCGTCG (p.Val224_Gly225insAlaVal) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597009G>A | CA306260601 | CRLF1 | c.738C>T (p.Val246=) c.203C>T c.672C>T (p.Val224=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597009G>C | CA9314119 | CRLF1 | c.738C>G (p.Val246=) c.203C>G c.672C>G (p.Val224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18597009G= | CA2326432439 | CRLF1 | c.738C= (p.Val246=) c.203C= c.672C= (p.Val224=) | |
19 | g.18597009G>T | CA506116490 | CRLF1 | c.738C>A (p.Val246=) c.203C>A c.672C>A (p.Val224=) | gnomAD v4 |
19 | g.18597010A>C | CA404851033 | CRLF1 | c.737T>G (p.Val246Gly) c.202T>G c.671T>G (p.Val224Gly) | gnomAD v4 |
19 | g.18597010A>G | CA404851034 | CRLF1 | c.737T>C (p.Val246Ala) c.202T>C c.671T>C (p.Val224Ala) | |
19 | g.18597010A>T | CA404851035 | CRLF1 | c.737T>A (p.Val246Asp) c.202T>A c.671T>A (p.Val224Asp) | |
19 | g.18597010_18597026dup | CA2695228416 | CRLF1 | c.721_737dup (p.Gly247CysfsTer3) c.186_202dup c.655_671dup (p.Gly225CysfsTer3) | |
19 | g.18597011C>A | CA404851036 | CRLF1 | c.736G>T (p.Val246Phe) c.201G>T c.670G>T (p.Val224Phe) | gnomAD v4 |
19 | g.18597011C= | CA2326432440 | CRLF1 | c.736G= (p.Val246=) c.201G= c.670G= (p.Val224=) | |
19 | g.18597011C>G | CA404851037 | CRLF1 | c.736G>C (p.Val246Leu) c.201G>C c.670G>C (p.Val224Leu) | |
19 | g.18597011C>T | CA9314120 | CRLF1 | c.736G>A (p.Val246Ile) c.201G>A c.670G>A (p.Val224Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597012G>A | CA506116494 | CRLF1 | c.735C>T (p.Arg245=) c.200C>T c.669C>T (p.Arg223=) | dbSNP gnomAD v4 |
19 | g.18597012G>C | CA506116495 | CRLF1 | c.735C>G (p.Arg245=) c.200C>G c.669C>G (p.Arg223=) | |
19 | g.18597012G= | CA2326432441 | CRLF1 | c.735C= (p.Arg245=) c.200C= c.669C= (p.Arg223=) | |
19 | g.18597012G>T | CA506116496 | CRLF1 | c.735C>A (p.Arg245=) c.200C>A c.669C>A (p.Arg223=) | gnomAD v4 |
19 | g.18597013C>A | CA404851038 | CRLF1 | c.734G>T (p.Arg245Leu) c.199G>T c.668G>T (p.Arg223Leu) | |
19 | g.18597013C= | CA2326432442 | CRLF1 | c.734G= (p.Arg245=) c.199G= c.668G= (p.Arg223=) | |
19 | g.18597013C>G | CA306260619 | CRLF1 | c.734G>C (p.Arg245Pro) c.199G>C c.668G>C (p.Arg223Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597013C>T | CA404851039 | CRLF1 | c.734G>A (p.Arg245His) c.199G>A c.668G>A (p.Arg223His) | gnomAD v4 |
19 | g.18597014G>A | CA9314121 | CRLF1 | c.733C>T (p.Arg245Cys) c.198C>T c.667C>T (p.Arg223Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18597014G>C | CA404851040 | CRLF1 | c.733C>G (p.Arg245Gly) c.198C>G c.667C>G (p.Arg223Gly) | |
19 | g.18597014G= | CA2326432443 | CRLF1 | c.733C= (p.Arg245=) c.198C= c.667C= (p.Arg223=) | |
19 | g.18597014G>T | CA404851041 | CRLF1 | c.733C>A (p.Arg245Ser) c.198C>A c.667C>A (p.Arg223Ser) | |
19 | g.18597015G>A | CA506116499 | CRLF1 | c.732C>T (p.Ser244=) c.197C>T c.666C>T (p.Ser222=) | |
19 | g.18597015G>C | CA404851042 | CRLF1 | c.732C>G (p.Ser244Arg) c.197C>G c.666C>G (p.Ser222Arg) | |
19 | g.18597015G>T | CA404851043 | CRLF1 | c.732C>A (p.Ser244Arg) c.197C>A c.666C>A (p.Ser222Arg) | |
19 | g.18597016C>A | CA404851044 | CRLF1 | c.731G>T (p.Ser244Ile) c.196G>T c.665G>T (p.Ser222Ile) | |
19 | g.18597016C>G | CA404851045 | CRLF1 | c.731G>C (p.Ser244Thr) c.196G>C c.665G>C (p.Ser222Thr) | |
19 | g.18597016C>T | CA404851046 | CRLF1 | c.731G>A (p.Ser244Asn) c.196G>A c.665G>A (p.Ser222Asn) | |
19 | g.18597017T>A | CA404851047 | CRLF1 | c.730A>T (p.Ser244Cys) c.195A>T c.664A>T (p.Ser222Cys) | |
19 | g.18597017T>C | CA404851048 | CRLF1 | c.730A>G (p.Ser244Gly) c.195A>G c.664A>G (p.Ser222Gly) | |
19 | g.18597017T>G | CA404851049 | CRLF1 | c.730A>C (p.Ser244Arg) c.195A>C c.664A>C (p.Ser222Arg) | |
19 | g.18597018C>A | CA506116500 | CRLF1 | c.729G>T (p.Val243=) c.194G>T c.663G>T (p.Val221=) | |
19 | g.18597018C>G | CA506116504 | CRLF1 | c.729G>C (p.Val243=) c.194G>C c.663G>C (p.Val221=) | |
19 | g.18597018C>T | CA506116502 | CRLF1 | c.729G>A (p.Val243=) c.194G>A c.663G>A (p.Val221=) | gnomAD v4 |
19 | g.18597019A= | CA2326432444 | CRLF1 | c.728T= (p.Val243=) c.193T= c.662T= (p.Val221=) | |
19 | g.18597019A>C | CA404851050 | CRLF1 | c.728T>G (p.Val243Gly) c.193T>G c.662T>G (p.Val221Gly) | |
19 | g.18597019A>G | CA306260625 | CRLF1 | c.728T>C (p.Val243Ala) c.193T>C c.662T>C (p.Val221Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597019A>T | CA404851051 | CRLF1 | c.728T>A (p.Val243Glu) c.193T>A c.662T>A (p.Val221Glu) | |
19 | g.18597020C>A | CA306260634 | CRLF1 | c.727G>T (p.Val243Leu) c.192G>T c.661G>T (p.Val221Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597020C= | CA2326432445 | CRLF1 | c.727G= (p.Val243=) c.192G= c.661G= (p.Val221=) | |
19 | g.18597020C>G | CA404851052 | CRLF1 | c.727G>C (p.Val243Leu) c.192G>C c.661G>C (p.Val221Leu) | |
19 | g.18597020C>T | CA306260636 | CRLF1 | c.727G>A (p.Val243Met) c.192G>A c.661G>A (p.Val221Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597021G>A | CA9314123 | CRLF1 | c.726C>T (p.His242=) c.191C>T c.660C>T (p.His220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597021G>C | CA9314122 | CRLF1 | c.726C>G (p.His242Gln) c.191C>G c.660C>G (p.His220Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597021G= | CA2326432446 | CRLF1 | c.726C= (p.His242=) c.191C= c.660C= (p.His220=) | |
19 | g.18597021G>T | CA404851053 | CRLF1 | c.726C>A (p.His242Gln) c.191C>A c.660C>A (p.His220Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597022T>A | CA404851054 | CRLF1 | c.725A>T (p.His242Leu) c.190A>T c.659A>T (p.His220Leu) | gnomAD v4 |
19 | g.18597022T>C | CA404851056 | CRLF1 | c.725A>G (p.His242Arg) c.190A>G c.659A>G (p.His220Arg) | gnomAD v4 |
19 | g.18597022T>G | CA404851055 | CRLF1 | c.725A>C (p.His242Pro) c.190A>C c.659A>C (p.His220Pro) | |
19 | g.18597023G>A | CA404851057 | CRLF1 | c.724C>T (p.His242Tyr) c.189C>T c.658C>T (p.His220Tyr) | |
19 | g.18597023G>C | CA404851059 | CRLF1 | c.724C>G (p.His242Asp) c.189C>G c.658C>G (p.His220Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597023G= | CA2326432447 | CRLF1 | c.724C= (p.His242=) c.189C= c.658C= (p.His220=) | |
19 | g.18597023G>T | CA404851058 | CRLF1 | c.724C>A (p.His242Asn) c.189C>A c.658C>A (p.His220Asn) | |
19 | g.18597024C>A | CA506116506 | CRLF1 | c.723G>T (p.Val241=) c.188G>T c.657G>T (p.Val219=) | |
19 | g.18597024C= | CA2326432448 | CRLF1 | c.723G= (p.Val241=) c.188G= c.657G= (p.Val219=) | |
19 | g.18597024C>G | CA506116508 | CRLF1 | c.723G>C (p.Val241=) c.188G>C c.657G>C (p.Val219=) | |
19 | g.18597024C>T | CA9314124 | CRLF1 | c.723G>A (p.Val241=) c.188G>A c.657G>A (p.Val219=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597025_18597029dup | CA2583603062 | CRLF1 | c.719_723dup (p.His242ThrfsTer4) c.184_188dup c.653_657dup (p.His220ThrfsTer4) | gnomAD v4 |
19 | g.18597025A= | CA2326432449 | CRLF1 | c.722T= (p.Val241=) c.187T= c.656T= (p.Val219=) | |
19 | g.18597025A>C | CA404851061 | CRLF1 | c.722T>G (p.Val241Gly) c.187T>G c.656T>G (p.Val219Gly) | |
19 | g.18597025A>G | CA404851060 | CRLF1 | c.722T>C (p.Val241Ala) c.187T>C c.656T>C (p.Val219Ala) | |
19 | g.18597025A>T | CA306260640 | CRLF1 | c.722T>A (p.Val241Glu) c.187T>A c.656T>A (p.Val219Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597026C>A | CA306260642 | CRLF1 | c.721G>T (p.Val241Leu) c.186G>T c.655G>T (p.Val219Leu) | dbSNP gnomAD v4 |
19 | g.18597026C= | CA2326432450 | CRLF1 | c.721G= (p.Val241=) c.186G= c.655G= (p.Val219=) | |
19 | g.18597026C>G | CA404851062 | CRLF1 | c.721G>C (p.Val241Leu) c.186G>C c.655G>C (p.Val219Leu) | gnomAD v4 |
19 | g.18597026C>T | CA404851063 | CRLF1 | c.721G>A (p.Val241Met) c.186G>A c.655G>A (p.Val219Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597027G>A | CA306260648 | CRLF1 | c.720C>T (p.Asp240=) c.185C>T c.654C>T (p.Asp218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597027G>C | CA404851064 | CRLF1 | c.720C>G (p.Asp240Glu) c.185C>G c.654C>G (p.Asp218Glu) | gnomAD v4 |
19 | g.18597027G= | CA2326432451 | CRLF1 | c.720C= (p.Asp240=) c.185C= c.654C= (p.Asp218=) | |
19 | g.18597027G>T | CA404851065 | CRLF1 | c.720C>A (p.Asp240Glu) c.185C>A c.654C>A (p.Asp218Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597028T>A | CA9314125 | CRLF1 | c.719A>T (p.Asp240Val) c.184A>T c.653A>T (p.Asp218Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18597028T>C | CA404851066 | CRLF1 | c.719A>G (p.Asp240Gly) c.184A>G c.653A>G (p.Asp218Gly) | |
19 | g.18597028T>G | CA404851067 | CRLF1 | c.719A>C (p.Asp240Ala) c.184A>C c.653A>C (p.Asp218Ala) | |
19 | g.18597028T= | CA2326432452 | CRLF1 | c.719A= (p.Asp240=) c.184A= c.653A= (p.Asp218=) | |
19 | g.18597029C>A | CA404851068 | CRLF1 | c.718G>T (p.Asp240Tyr) c.183G>T c.652G>T (p.Asp218Tyr) | |
19 | g.18597029C= | CA2326432453 | CRLF1 | c.718G= (p.Asp240=) c.183G= c.652G= (p.Asp218=) | |
19 | g.18597029C>G | CA9314127 | CRLF1 | c.718G>C (p.Asp240His) c.183G>C c.652G>C (p.Asp218His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597029C>T | CA9314126 | CRLF1 | c.718G>A (p.Asp240Asn) c.183G>A c.652G>A (p.Asp218Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18597030G>A | CA9314128 | CRLF1 | c.717C>T (p.Pro239=) c.182C>T c.651C>T (p.Pro217=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18597030G>C | CA506116510 | CRLF1 | c.717C>G (p.Pro239=) c.182C>G c.651C>G (p.Pro217=) | |
19 | g.18597030G= | CA2326432454 | CRLF1 | c.717C= (p.Pro239=) c.182C= c.651C= (p.Pro217=) | |
19 | g.18597030G>T | CA506116511 | CRLF1 | c.717C>A (p.Pro239=) c.182C>A c.651C>A (p.Pro217=) | |
19 | g.18597031G>A | CA404851069 | CRLF1 | c.716C>T (p.Pro239Leu) c.181C>T c.650C>T (p.Pro217Leu) | gnomAD v4 |
19 | g.18597031G>C | CA404851071 | CRLF1 | c.716C>G (p.Pro239Arg) c.181C>G c.650C>G (p.Pro217Arg) | gnomAD v4 |
19 | g.18597031G>T | CA404851070 | CRLF1 | c.716C>A (p.Pro239His) c.181C>A c.650C>A (p.Pro217His) | |
19 | g.18597032G>A | CA306260657 | CRLF1 | c.715C>T (p.Pro239Ser) c.180C>T c.649C>T (p.Pro217Ser) | dbSNP gnomAD v4 |
19 | g.18597032G>C | CA404851072 | CRLF1 | c.715C>G (p.Pro239Ala) c.180C>G c.649C>G (p.Pro217Ala) | |
19 | g.18597032G= | CA2326432455 | CRLF1 | c.715C= (p.Pro239=) c.180C= c.649C= (p.Pro217=) | |
19 | g.18597032G>T | CA404851073 | CRLF1 | c.715C>A (p.Pro239Thr) c.180C>A c.649C>A (p.Pro217Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597033C>A | CA506116513 | CRLF1 | c.714G>T (p.Pro238=) c.179G>T c.648G>T (p.Pro216=) | |
19 | g.18597033C= | CA2326432457 | CRLF1 | c.714G= (p.Pro238=) c.179G= c.648G= (p.Pro216=) | |
19 | g.18597033C>G | CA506116514 | CRLF1 | c.714G>C (p.Pro238=) c.179G>C c.648G>C (p.Pro216=) | |
19 | g.18597033C>T | CA506116515 | CRLF1 | c.714G>A (p.Pro238=) c.179G>A c.648G>A (p.Pro216=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597033_18597034delinsCG | CA2326432456 | CRLF1 | c.713_714delinsCG (p.Pro238=) c.178_179delinsCG c.647_648delinsCG (p.Pro216=) | |
19 | g.18597034G>A | CA404851074 | CRLF1 | c.713C>T (p.Pro238Leu) c.178C>T c.647C>T (p.Pro216Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18597034G>C | CA404851075 | CRLF1 | c.713C>G (p.Pro238Arg) c.178C>G c.647C>G (p.Pro216Arg) | |
19 | g.18597034G= | CA2326432458 | CRLF1 | c.713C= (p.Pro238=) c.178C= c.647C= (p.Pro216=) | |
19 | g.18597034G>T | CA404851076 | CRLF1 | c.713C>A (p.Pro238Gln) c.178C>A c.647C>A (p.Pro216Gln) | dbSNP gnomAD v4 |
19 | g.18597039dup | CA277471 | CRLF1 | c.713dup (p.Pro239AlafsTer?) c.178dup c.647dup (p.Pro217AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597039del | CA645614569 | CRLF1 | c.713del (p.Pro238ArgfsTer6) c.178del c.647del (p.Pro216ArgfsTer6) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.18597035G>A | CA404851077 | CRLF1 | c.712C>T (p.Pro238Ser) c.177C>T c.646C>T (p.Pro216Ser) | |
19 | g.18597035G>C | CA404851078 | CRLF1 | c.712C>G (p.Pro238Ala) c.177C>G c.646C>G (p.Pro216Ala) | gnomAD v4 |
19 | g.18597035G>T | CA404851079 | CRLF1 | c.712C>A (p.Pro238Thr) c.177C>A c.646C>A (p.Pro216Thr) | |
19 | g.18597036G>A | CA506116517 | CRLF1 | c.711C>T (p.Pro237=) c.176C>T c.645C>T (p.Pro215=) | |
19 | g.18597036G>C | CA506116519 | CRLF1 | c.711C>G (p.Pro237=) c.176C>G c.645C>G (p.Pro215=) | |
19 | g.18597036G= | CA2326432459 | CRLF1 | c.711C= (p.Pro237=) c.176C= c.645C= (p.Pro215=) | |
19 | g.18597036G>T | CA506116521 | CRLF1 | c.711C>A (p.Pro237=) c.176C>A c.645C>A (p.Pro215=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597037G>A | CA404851081 | CRLF1 | c.710C>T (p.Pro237Leu) c.175C>T c.644C>T (p.Pro215Leu) | |
19 | g.18597037G>C | CA404851082 | CRLF1 | c.710C>G (p.Pro237Arg) c.175C>G c.644C>G (p.Pro215Arg) | |
19 | g.18597037G>T | CA404851080 | CRLF1 | c.710C>A (p.Pro237His) c.175C>A c.644C>A (p.Pro215His) | |
19 | g.18597038G>A | CA404851083 | CRLF1 | c.709C>T (p.Pro237Ser) c.174C>T c.643C>T (p.Pro215Ser) | |
19 | g.18597038G>C | CA404851084 | CRLF1 | c.709C>G (p.Pro237Ala) c.174C>G c.643C>G (p.Pro215Ala) | |
19 | g.18597038G= | CA2326432460 | CRLF1 | c.709C= (p.Pro237=) c.174C= c.643C= (p.Pro215=) | |
19 | g.18597038G>T | CA404851085 | CRLF1 | c.709C>A (p.Pro237Thr) c.174C>A c.643C>A (p.Pro215Thr) | dbSNP gnomAD v4 |
19 | g.18597038_18597039delinsA | CA2580096745 | CRLF1 | c.708_709delinsT (p.Pro238ArgfsTer6) c.173_174delinsT c.642_643delinsT (p.Pro216ArgfsTer6) | ClinVar dbSNP |
19 | g.18597039G>A | CA306260658 | CRLF1 | c.708C>T (p.Asp236=) c.173C>T c.642C>T (p.Asp214=) | dbSNP gnomAD v4 |
19 | g.18597039G>C | CA404851086 | CRLF1 | c.708C>G (p.Asp236Glu) c.173C>G c.642C>G (p.Asp214Glu) | |
19 | g.18597039G= | CA2326432461 | CRLF1 | c.708C= (p.Asp236=) c.173C= c.642C= (p.Asp214=) | |
19 | g.18597039G>T | CA404851087 | CRLF1 | c.708C>A (p.Asp236Glu) c.173C>A c.642C>A (p.Asp214Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597040T>A | CA404851090 | CRLF1 | c.707A>T (p.Asp236Val) c.172A>T c.641A>T (p.Asp214Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597040T>C | CA404851088 | CRLF1 | c.707A>G (p.Asp236Gly) c.172A>G c.641A>G (p.Asp214Gly) | |
19 | g.18597040T>G | CA404851089 | CRLF1 | c.707A>C (p.Asp236Ala) c.172A>C c.641A>C (p.Asp214Ala) | dbSNP |
19 | g.18597040T= | CA2326432462 | CRLF1 | c.707A= (p.Asp236=) c.172A= c.641A= (p.Asp214=) | |
19 | g.18597041C>A | CA404851091 | CRLF1 | c.706G>T (p.Asp236Tyr) c.171G>T c.640G>T (p.Asp214Tyr) | gnomAD v4 |
19 | g.18597041C= | CA2326432463 | CRLF1 | c.706G= (p.Asp236=) c.171G= c.640G= (p.Asp214=) | |
19 | g.18597041C>G | CA404851092 | CRLF1 | c.706G>C (p.Asp236His) c.171G>C c.640G>C (p.Asp214His) | |
19 | g.18597041C>T | CA404851093 | CRLF1 | c.706G>A (p.Asp236Asn) c.171G>A c.640G>A (p.Asp214Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597042C>A | CA506116523 | CRLF1 | c.705G>T (p.Thr235=) c.170G>T c.639G>T (p.Thr213=) | dbSNP gnomAD v2 |
19 | g.18597042C= | CA2326432464 | CRLF1 | c.705G= (p.Thr235=) c.170G= c.639G= (p.Thr213=) | |
19 | g.18597042C>G | CA9314130 | CRLF1 | c.705G>C (p.Thr235=) c.170G>C c.639G>C (p.Thr213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597042C>T | CA9314129 | CRLF1 | c.705G>A (p.Thr235=) c.170G>A c.639G>A (p.Thr213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597043del | CA2583603063 | CRLF1 | c.704del (p.Thr235ArgfsTer9) c.169del c.638del (p.Thr213ArgfsTer9) | gnomAD v4 |
19 | g.18597043G>A | CA404851094 | CRLF1 | c.704C>T (p.Thr235Met) c.169C>T c.638C>T (p.Thr213Met) | gnomAD v4 |
19 | g.18597043G>C | CA404851096 | CRLF1 | c.704C>G (p.Thr235Arg) c.169C>G c.638C>G (p.Thr213Arg) | |
19 | g.18597043G>T | CA404851095 | CRLF1 | c.704C>A (p.Thr235Lys) c.169C>A c.638C>A (p.Thr213Lys) | |
19 | g.18597044T>A | CA404851097 | CRLF1 | c.703A>T (p.Thr235Ser) c.168A>T c.637A>T (p.Thr213Ser) | |
19 | g.18597044T>C | CA404851098 | CRLF1 | c.703A>G (p.Thr235Ala) c.168A>G c.637A>G (p.Thr213Ala) | |
19 | g.18597044T>G | CA404851099 | CRLF1 | c.703A>C (p.Thr235Pro) c.168A>C c.637A>C (p.Thr213Pro) | |
19 | g.18597045G>A | CA506116525 | CRLF1 | c.702C>T (p.Thr234=) c.167C>T c.636C>T (p.Thr212=) | |
19 | g.18597045G>C | CA506116527 | CRLF1 | c.702C>G (p.Thr234=) c.167C>G c.636C>G (p.Thr212=) | |
19 | g.18597045G>T | CA506116528 | CRLF1 | c.702C>A (p.Thr234=) c.167C>A c.636C>A (p.Thr212=) | |
19 | g.18597046G>A | CA9314131 | CRLF1 | c.701C>T (p.Thr234Ile) c.166C>T c.635C>T (p.Thr212Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18597046G>C | CA404851100 | CRLF1 | c.701C>G (p.Thr234Ser) c.166C>G c.635C>G (p.Thr212Ser) | |
19 | g.18597046G= | CA2326432465 | CRLF1 | c.701C= (p.Thr234=) c.166C= c.635C= (p.Thr212=) | |
19 | g.18597046G>T | CA404851101 | CRLF1 | c.701C>A (p.Thr234Asn) c.166C>A c.635C>A (p.Thr212Asn) | |
19 | g.18597047T>A | CA404851102 | CRLF1 | c.700A>T (p.Thr234Ser) c.165A>T c.634A>T (p.Thr212Ser) | |
19 | g.18597047T>C | CA404851103 | CRLF1 | c.700A>G (p.Thr234Ala) c.165A>G c.634A>G (p.Thr212Ala) | dbSNP gnomAD v2 |
19 | g.18597047T>G | CA404851104 | CRLF1 | c.700A>C (p.Thr234Pro) c.165A>C c.634A>C (p.Thr212Pro) | |
19 | g.18597047T= | CA2326432466 | CRLF1 | c.700A= (p.Thr234=) c.165A= c.634A= (p.Thr212=) | |
19 | g.18597048C>A | CA506116529 | CRLF1 | c.699G>T (p.Val233=) c.164G>T c.633G>T (p.Val211=) | gnomAD v4 |
19 | g.18597048C>G | CA506116530 | CRLF1 | c.699G>C (p.Val233=) c.164G>C c.633G>C (p.Val211=) | |
19 | g.18597048C>T | CA506116531 | CRLF1 | c.699G>A (p.Val233=) c.164G>A c.633G>A (p.Val211=) | gnomAD v4 |
19 | g.18597049A>C | CA404851105 | CRLF1 | c.698T>G (p.Val233Gly) c.163T>G c.632T>G (p.Val211Gly) | |
19 | g.18597049A>G | CA404851106 | CRLF1 | c.698T>C (p.Val233Ala) c.163T>C c.632T>C (p.Val211Ala) | |
19 | g.18597049A>T | CA404851107 | CRLF1 | c.698T>A (p.Val233Glu) c.163T>A c.632T>A (p.Val211Glu) | |
19 | g.18597050C>A | CA404851109 | CRLF1 | c.698-1G>T (n.698-1G>T) c.163-1G>T c.632-1G>T (n.632-1G>T) | |
19 | g.18597050C>G | CA404851110 | CRLF1 | c.698-1G>C (n.698-1G>C) c.163-1G>C c.632-1G>C (n.632-1G>C) | |
19 | g.18597050C>T | CA404851108 | CRLF1 | c.698-1G>A (n.698-1G>A) c.163-1G>A c.632-1G>A (n.632-1G>A) | |
19 | g.18597051T>A | CA404851113 | CRLF1 | c.698-2A>T (n.698-2A>T) c.163-2A>T c.632-2A>T (n.632-2A>T) | |
19 | g.18597051T>C | CA404851111 | CRLF1 | c.698-2A>G (n.698-2A>G) c.163-2A>G c.632-2A>G (n.632-2A>G) | |
19 | g.18597051T>G | CA404851112 | CRLF1 | c.698-2A>C (n.698-2A>C) c.163-2A>C c.632-2A>C (n.632-2A>C) | |
19 | g.18597052G>A | CA2557999927 | CRLF1 | c.698-3C>T (n.698-3C>T) c.163-3C>T c.632-3C>T (n.632-3C>T) | |
19 | g.18597052G= | CA2326432467 | CRLF1 | c.698-3C= (n.698-3C=) c.163-3C= c.632-3C= (n.632-3C=) | |
19 | g.18597052G>T | CA632626088 | CRLF1 | c.698-3C>A (n.698-3C>A) c.163-3C>A c.632-3C>A (n.632-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597053C= | CA2326432468 | CRLF1 | c.698-4G= (n.698-4G=) c.163-4G= c.632-4G= (n.632-4G=) | |
19 | g.18597053C>G | CA2567674100 | CRLF1 | c.698-4G>C (n.698-4G>C) c.163-4G>C c.632-4G>C (n.632-4G>C) | |
19 | g.18597053C>T | CA783934053 | CRLF1 | c.698-4G>A (n.698-4G>A) c.163-4G>A c.632-4G>A (n.632-4G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18597054G>A | CA2583603065 | CRLF1 | c.698-5C>T (n.698-5C>T) c.163-5C>T c.632-5C>T (n.632-5C>T) | ClinVar gnomAD v4 |
19 | g.18597054G>C | CA632626089 | CRLF1 | c.698-5C>G (n.698-5C>G) c.163-5C>G c.632-5C>G (n.632-5C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18597054G= | CA2326432469 | CRLF1 | c.698-5C= (n.698-5C=) c.163-5C= c.632-5C= (n.632-5C=) | |
19 | g.18597057del | CA2583603064 | CRLF1 | c.698-5del (n.698-5del) c.163-5del c.632-5del (n.632-5del) | gnomAD v4 |
19 | g.18597056G>A | CA2583603066 | CRLF1 | c.698-7C>T (n.698-7C>T) c.163-7C>T c.632-7C>T (n.632-7C>T) | gnomAD v4 |
19 | g.18597056G>T | CA2813827745 | CRLF1 | c.698-7C>A (n.698-7C>A) c.163-7C>A c.632-7C>A (n.632-7C>A) |