Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596563G>A | CA306260209 | CRLF1 | c.1024+59C>T (n.1024+59C>T) c.447+101C>T c.958+59C>T (n.958+59C>T) | dbSNP gnomAD v4 |
19 | g.18596563G= | CA2326432184 | CRLF1 | c.1024+59C= (n.1024+59C=) c.447+101C= c.958+59C= (n.958+59C=) | |
19 | g.18596564A>G | CA2583603037 | CRLF1 | c.1024+58T>C (n.1024+58T>C) c.447+100T>C c.958+58T>C (n.958+58T>C) | gnomAD v4 |
19 | g.18596565G>A | CA306260210 | CRLF1 | c.1024+57C>T (n.1024+57C>T) c.447+99C>T c.958+57C>T (n.958+57C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596565G= | CA2326432185 | CRLF1 | c.1024+57C= (n.1024+57C=) c.447+99C= c.958+57C= (n.958+57C=) | |
19 | g.18596565G>T | CA2583603038 | CRLF1 | c.1024+57C>A (n.1024+57C>A) c.447+99C>A c.958+57C>A (n.958+57C>A) | gnomAD v4 |
19 | g.18596566G>C | CA2583603039 | CRLF1 | c.1024+56C>G (n.1024+56C>G) c.447+98C>G c.958+56C>G (n.958+56C>G) | gnomAD v4 |
19 | g.18596566G= | CA2326432186 | CRLF1 | c.1024+56C= (n.1024+56C=) c.447+98C= c.958+56C= (n.958+56C=) | |
19 | g.18596566G>T | CA632364897 | CRLF1 | c.1024+56C>A (n.1024+56C>A) c.447+98C>A c.958+56C>A (n.958+56C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596567C>T | CA2576724680 | CRLF1 | c.1024+55G>A (n.1024+55G>A) c.447+97G>A c.958+55G>A (n.958+55G>A) | |
19 | g.18596569C>A | CA2583603040 | CRLF1 | c.1024+53G>T (n.1024+53G>T) c.447+95G>T c.958+53G>T (n.958+53G>T) | gnomAD v4 |
19 | g.18596569C= | CA2326432187 | CRLF1 | c.1024+53G= (n.1024+53G=) c.447+95G= c.958+53G= (n.958+53G=) | |
19 | g.18596569C>G | CA2326432188 | CRLF1 | c.1024+53G>C (n.1024+53G>C) c.447+95G>C c.958+53G>C (n.958+53G>C) | dbSNP gnomAD v4 |
19 | g.18596569C>T | CA2576724681 | CRLF1 | c.1024+53G>A (n.1024+53G>A) c.447+95G>A c.958+53G>A (n.958+53G>A) | gnomAD v4 |
19 | g.18596570T>C | CA2813827675 | CRLF1 | c.1024+52A>G (n.1024+52A>G) c.447+94A>G c.958+52A>G (n.958+52A>G) | |
19 | g.18596570T>G | CA2583603041 | CRLF1 | c.1024+52A>C (n.1024+52A>C) c.447+94A>C c.958+52A>C (n.958+52A>C) | gnomAD v4 |
19 | g.18596571A= | CA2326432189 | CRLF1 | c.1024+51T= (n.1024+51T=) c.447+93T= c.958+51T= (n.958+51T=) | |
19 | g.18596571A>G | CA632364898 | CRLF1 | c.1024+51T>C (n.1024+51T>C) c.447+93T>C c.958+51T>C (n.958+51T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596571A>T | CA632364899 | CRLF1 | c.1024+51T>A (n.1024+51T>A) c.447+93T>A c.958+51T>A (n.958+51T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596572G>T | CA2583603042 | CRLF1 | c.1024+50C>A (n.1024+50C>A) c.447+92C>A c.958+50C>A (n.958+50C>A) | gnomAD v4 |
19 | g.18596573C>G | CA2583603043 | CRLF1 | c.1024+49G>C (n.1024+49G>C) c.447+91G>C c.958+49G>C (n.958+49G>C) | gnomAD v4 |
19 | g.18596580C>A | CA657092644 | CRLF1 | c.1024+42G>T (n.1024+42G>T) c.447+84G>T c.958+42G>T (n.958+42G>T) | COSMIC |
19 | g.18596580C= | CA2326432190 | CRLF1 | c.1024+42G= (n.1024+42G=) c.447+84G= c.958+42G= (n.958+42G=) | |
19 | g.18596580C>G | CA2581374262 | CRLF1 | c.1024+42G>C (n.1024+42G>C) c.447+84G>C c.958+42G>C (n.958+42G>C) | |
19 | g.18596580C>T | CA9314017 | CRLF1 | c.1024+42G>A (n.1024+42G>A) c.447+84G>A c.958+42G>A (n.958+42G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596581G>A | CA9314018 | CRLF1 | c.1024+41C>T (n.1024+41C>T) c.447+83C>T c.958+41C>T (n.958+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596581G>C | CA2583603044 | CRLF1 | c.1024+41C>G (n.1024+41C>G) c.447+83C>G c.958+41C>G (n.958+41C>G) | gnomAD v4 |
19 | g.18596581G= | CA2326432191 | CRLF1 | c.1024+41C= (n.1024+41C=) c.447+83C= c.958+41C= (n.958+41C=) | |
19 | g.18596581G>T | CA9314019 | CRLF1 | c.1024+41C>A (n.1024+41C>A) c.447+83C>A c.958+41C>A (n.958+41C>A) | dbSNP ExAC gnomAD v4 |
19 | g.18596582G>A | CA2326432193 | CRLF1 | c.1024+40C>T (n.1024+40C>T) c.447+82C>T c.958+40C>T (n.958+40C>T) | dbSNP gnomAD v4 |
19 | g.18596582G= | CA2326432192 | CRLF1 | c.1024+40C= (n.1024+40C=) c.447+82C= c.958+40C= (n.958+40C=) | |
19 | g.18596582G>T | CA783933156 | CRLF1 | c.1024+40C>A (n.1024+40C>A) c.447+82C>A c.958+40C>A (n.958+40C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596585T>C | CA783933165 | CRLF1 | c.1024+37A>G (n.1024+37A>G) c.447+79A>G c.958+37A>G (n.958+37A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596585T= | CA2326432194 | CRLF1 | c.1024+37A= (n.1024+37A=) c.447+79A= c.958+37A= (n.958+37A=) | |
19 | g.18596586G>C | CA783933167 | CRLF1 | c.1024+36C>G (n.1024+36C>G) c.447+78C>G c.958+36C>G (n.958+36C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596586G= | CA2326432195 | CRLF1 | c.1024+36C= (n.1024+36C=) c.447+78C= c.958+36C= (n.958+36C=) | |
19 | g.18596587G>A | CA9314020 | CRLF1 | c.1024+35C>T (n.1024+35C>T) c.447+77C>T c.958+35C>T (n.958+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596587G= | CA2326432196 | CRLF1 | c.1024+35C= (n.1024+35C=) c.447+77C= c.958+35C= (n.958+35C=) | |
19 | g.18596587G>T | CA2583603045 | CRLF1 | c.1024+35C>A (n.1024+35C>A) c.447+77C>A c.958+35C>A (n.958+35C>A) | gnomAD v4 |
19 | g.18596588C= | CA2326432197 | CRLF1 | c.1024+34G= (n.1024+34G=) c.447+76G= c.958+34G= (n.958+34G=) | |
19 | g.18596588C>T | CA9314021 | CRLF1 | c.1024+34G>A (n.1024+34G>A) c.447+76G>A c.958+34G>A (n.958+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596589C>A | CA9314022 | CRLF1 | c.1024+33G>T (n.1024+33G>T) c.447+75G>T c.958+33G>T (n.958+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596589C= | CA2326432198 | CRLF1 | c.1024+33G= (n.1024+33G=) c.447+75G= c.958+33G= (n.958+33G=) | |
19 | g.18596589C>G | CA9314024 | CRLF1 | c.1024+33G>C (n.1024+33G>C) c.447+75G>C c.958+33G>C (n.958+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596589C>T | CA9314023 | CRLF1 | c.1024+33G>A (n.1024+33G>A) c.447+75G>A c.958+33G>A (n.958+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596590G>A | CA9314025 | CRLF1 | c.1024+32C>T (n.1024+32C>T) c.447+74C>T c.958+32C>T (n.958+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596590G= | CA2326432199 | CRLF1 | c.1024+32C= (n.1024+32C=) c.447+74C= c.958+32C= (n.958+32C=) | |
19 | g.18596592T>C | CA2583603046 | CRLF1 | c.1024+30A>G (n.1024+30A>G) c.447+72A>G c.958+30A>G (n.958+30A>G) | gnomAD v4 |
19 | g.18596593G>T | CA2583603047 | CRLF1 | c.1024+29C>A (n.1024+29C>A) c.447+71C>A c.958+29C>A (n.958+29C>A) | gnomAD v4 |
19 | g.18596594G>A | CA2326432201 | CRLF1 | c.1024+28C>T (n.1024+28C>T) c.447+70C>T c.958+28C>T (n.958+28C>T) | dbSNP |
19 | g.18596594G= | CA2326432200 | CRLF1 | c.1024+28C= (n.1024+28C=) c.447+70C= c.958+28C= (n.958+28C=) | |
19 | g.18596595A= | CA2326432202 | CRLF1 | c.1024+27T= (n.1024+27T=) c.447+69T= c.958+27T= (n.958+27T=) | |
19 | g.18596595A>C | CA9314026 | CRLF1 | c.1024+27T>G (n.1024+27T>G) c.447+69T>G c.958+27T>G (n.958+27T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596596T>C | CA994214026 | CRLF1 | c.1024+26A>G (n.1024+26A>G) c.447+68A>G c.958+26A>G (n.958+26A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596596T= | CA2326432203 | CRLF1 | c.1024+26A= (n.1024+26A=) c.447+68A= c.958+26A= (n.958+26A=) | |
19 | g.18596599C>T | CA2583603048 | CRLF1 | c.1024+23G>A (n.1024+23G>A) c.447+65G>A c.958+23G>A (n.958+23G>A) | gnomAD v4 |
19 | g.18596600C= | CA2326432204 | CRLF1 | c.1024+22G= (n.1024+22G=) c.447+64G= c.958+22G= (n.958+22G=) | |
19 | g.18596600C>G | CA2326432205 | CRLF1 | c.1024+22G>C (n.1024+22G>C) c.447+64G>C c.958+22G>C (n.958+22G>C) | dbSNP gnomAD v4 |
19 | g.18596600C>T | CA9314027 | CRLF1 | c.1024+22G>A (n.1024+22G>A) c.447+64G>A c.958+22G>A (n.958+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596601C>T | CA2583603049 | CRLF1 | c.1024+21G>A (n.1024+21G>A) c.447+63G>A c.958+21G>A (n.958+21G>A) | gnomAD v4 |
19 | g.18596602A>G | CA2583603050 | CRLF1 | c.1024+20T>C (n.1024+20T>C) c.447+62T>C c.958+20T>C (n.958+20T>C) | gnomAD v4 |
19 | g.18596604C>A | CA632364901 | CRLF1 | c.1024+18G>T (n.1024+18G>T) c.447+60G>T c.958+18G>T (n.958+18G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596604C= | CA2326432206 | CRLF1 | c.1024+18G= (n.1024+18G=) c.447+60G= c.958+18G= (n.958+18G=) | |
19 | g.18596604C>T | CA632364900 | CRLF1 | c.1024+18G>A (n.1024+18G>A) c.447+60G>A c.958+18G>A (n.958+18G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596605C= | CA2326432207 | CRLF1 | c.1024+17G= (n.1024+17G=) c.447+59G= c.958+17G= (n.958+17G=) | |
19 | g.18596605C>T | CA306260242 | CRLF1 | c.1024+17G>A (n.1024+17G>A) c.447+59G>A c.958+17G>A (n.958+17G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596606C= | CA2326432208 | CRLF1 | c.1024+16G= (n.1024+16G=) c.447+58G= c.958+16G= (n.958+16G=) | |
19 | g.18596606C>T | CA2326432209 | CRLF1 | c.1024+16G>A (n.1024+16G>A) c.447+58G>A c.958+16G>A (n.958+16G>A) | dbSNP gnomAD v4 |
19 | g.18596608A= | CA2326432210 | CRLF1 | c.1024+14T= (n.1024+14T=) c.447+56T= c.958+14T= (n.958+14T=) | |
19 | g.18596608A>T | CA632364902 | CRLF1 | c.1024+14T>A (n.1024+14T>A) c.447+56T>A c.958+14T>A (n.958+14T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596609G>C | CA2583603051 | CRLF1 | c.1024+13C>G (n.1024+13C>G) c.447+55C>G c.958+13C>G (n.958+13C>G) | gnomAD v4 |
19 | g.18596610G>A | CA9314028 | CRLF1 | c.1024+12C>T (n.1024+12C>T) c.447+54C>T c.958+12C>T (n.958+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596610G= | CA2326432211 | CRLF1 | c.1024+12C= (n.1024+12C=) c.447+54C= c.958+12C= (n.958+12C=) | |
19 | g.18596611A= | CA2326432212 | CRLF1 | c.1024+11T= (n.1024+11T=) c.447+53T= c.958+11T= (n.958+11T=) | |
19 | g.18596611A>G | CA9314029 | CRLF1 | c.1024+11T>C (n.1024+11T>C) c.447+53T>C c.958+11T>C (n.958+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596612G>A | CA306260252 | CRLF1 | c.1024+10C>T (n.1024+10C>T) c.447+52C>T c.958+10C>T (n.958+10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596612G= | CA2326432213 | CRLF1 | c.1024+10C= (n.1024+10C=) c.447+52C= c.958+10C= (n.958+10C=) | |
19 | g.18596613G>A | CA306260255 | CRLF1 | c.1024+9C>T (n.1024+9C>T) c.447+51C>T c.958+9C>T (n.958+9C>T) | dbSNP gnomAD v4 |
19 | g.18596613G= | CA2326432214 | CRLF1 | c.1024+9C= (n.1024+9C=) c.447+51C= c.958+9C= (n.958+9C=) | |
19 | g.18596613G>T | CA9314030 | CRLF1 | c.1024+9C>A (n.1024+9C>A) c.447+51C>A c.958+9C>A (n.958+9C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
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 |