Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
ClinVar
5g.112842446T>ACA446210372APCc.6906T>A (p.Pro2302=)
c.*6858T>A (n.*6858T>A)
c.6798T>A (p.Pro2266=)
c.6852T>A (p.Pro2284=)
c.*6174T>A (n.*6174T>A)
c.230+13474T>A
c.6882T>A (p.Pro2294=)
c.6777T>A (p.Pro2259=)
c.6768T>A (p.Pro2256=)
c.6729T>A (p.Pro2243=)
c.6675T>A (p.Pro2225=)
c.6579T>A (p.Pro2193=)
c.6549T>A (p.Pro2183=)
c.6474T>A (p.Pro2158=)
c.6372T>A (p.Pro2124=)
c.6003T>A (p.Pro2001=)
dbSNP
5g.112842446T>CCA446210374APCc.6906T>C (p.Pro2302=)
c.*6858T>C (n.*6858T>C)
c.6798T>C (p.Pro2266=)
c.6852T>C (p.Pro2284=)
c.*6174T>C (n.*6174T>C)
c.230+13474T>C
c.6882T>C (p.Pro2294=)
c.6777T>C (p.Pro2259=)
c.6768T>C (p.Pro2256=)
c.6729T>C (p.Pro2243=)
c.6675T>C (p.Pro2225=)
c.6579T>C (p.Pro2193=)
c.6549T>C (p.Pro2183=)
c.6474T>C (p.Pro2158=)
c.6372T>C (p.Pro2124=)
c.6003T>C (p.Pro2001=)
dbSNP gnomAD v2 gnomAD v4
5g.112842446T>GCA446210375APCc.6906T>G (p.Pro2302=)
c.*6858T>G (n.*6858T>G)
c.6798T>G (p.Pro2266=)
c.6852T>G (p.Pro2284=)
c.*6174T>G (n.*6174T>G)
c.230+13474T>G
c.6882T>G (p.Pro2294=)
c.6777T>G (p.Pro2259=)
c.6768T>G (p.Pro2256=)
c.6729T>G (p.Pro2243=)
c.6675T>G (p.Pro2225=)
c.6579T>G (p.Pro2193=)
c.6549T>G (p.Pro2183=)
c.6474T>G (p.Pro2158=)
c.6372T>G (p.Pro2124=)
c.6003T>G (p.Pro2001=)
dbSNP gnomAD v4
5g.112842446T=CA1573485122APCc.6906T= (p.Pro2302=)
c.*6858T= (n.*6858T=)
c.6798T= (p.Pro2266=)
c.6852T= (p.Pro2284=)
c.*6174T= (n.*6174T=)
c.230+13474T=
c.6882T= (p.Pro2294=)
c.6777T= (p.Pro2259=)
c.6768T= (p.Pro2256=)
c.6729T= (p.Pro2243=)
c.6675T= (p.Pro2225=)
c.6579T= (p.Pro2193=)
c.6549T= (p.Pro2183=)
c.6474T= (p.Pro2158=)
c.6372T= (p.Pro2124=)
c.6003T= (p.Pro2001=)
5g.112842448_112842450dupCA2578379931APCc.6908_6910dup (p.Val2303_Ala2304insVal)
c.*6860_*6862dup (n.*6860_*6862dup)
c.6800_6802dup (p.Val2267_Ala2268insVal)
c.6854_6856dup (p.Val2285_Ala2286insVal)
c.*6176_*6178dup (n.*6176_*6178dup)
c.230+13476_230+13478dup
c.6884_6886dup (p.Val2295_Ala2296insVal)
c.6779_6781dup (p.Val2260_Ala2261insVal)
c.6770_6772dup (p.Val2257_Ala2258insVal)
c.6731_6733dup (p.Val2244_Ala2245insVal)
c.6677_6679dup (p.Val2226_Ala2227insVal)
c.6581_6583dup (p.Val2194_Ala2195insVal)
c.6551_6553dup (p.Val2184_Ala2185insVal)
c.6476_6478dup (p.Val2159_Ala2160insVal)
c.6374_6376dup (p.Val2125_Ala2126insVal)
c.6005_6007dup (p.Val2002_Ala2003insVal)
5g.112842447G>ACA16036290APCc.6907G>A (p.Val2303Ile)
c.*6859G>A (n.*6859G>A)
c.6799G>A (p.Val2267Ile)
c.6853G>A (p.Val2285Ile)
c.*6175G>A (n.*6175G>A)
c.230+13475G>A
c.6883G>A (p.Val2295Ile)
c.6778G>A (p.Val2260Ile)
c.6769G>A (p.Val2257Ile)
c.6730G>A (p.Val2244Ile)
c.6676G>A (p.Val2226Ile)
c.6580G>A (p.Val2194Ile)
c.6550G>A (p.Val2184Ile)
c.6475G>A (p.Val2159Ile)
c.6373G>A (p.Val2125Ile)
c.6004G>A (p.Val2002Ile)
ClinVar dbSNP COSMIC
5g.112842447G>CCA16036291APCc.6907G>C (p.Val2303Leu)
c.*6859G>C (n.*6859G>C)
c.6799G>C (p.Val2267Leu)
c.6853G>C (p.Val2285Leu)
c.*6175G>C (n.*6175G>C)
c.230+13475G>C
c.6883G>C (p.Val2295Leu)
c.6778G>C (p.Val2260Leu)
c.6769G>C (p.Val2257Leu)
c.6730G>C (p.Val2244Leu)
c.6676G>C (p.Val2226Leu)
c.6580G>C (p.Val2194Leu)
c.6550G>C (p.Val2184Leu)
c.6475G>C (p.Val2159Leu)
c.6373G>C (p.Val2125Leu)
c.6004G>C (p.Val2002Leu)
dbSNP
5g.112842447G=CA1573485129APCc.6907G= (p.Val2303=)
c.*6859G= (n.*6859G=)
c.6799G= (p.Val2267=)
c.6853G= (p.Val2285=)
c.*6175G= (n.*6175G=)
c.230+13475G=
c.6883G= (p.Val2295=)
c.6778G= (p.Val2260=)
c.6769G= (p.Val2257=)
c.6730G= (p.Val2244=)
c.6676G= (p.Val2226=)
c.6580G= (p.Val2194=)
c.6550G= (p.Val2184=)
c.6475G= (p.Val2159=)
c.6373G= (p.Val2125=)
c.6004G= (p.Val2002=)
5g.112842447G>TCA16036292APCc.6907G>T (p.Val2303Phe)
c.*6859G>T (n.*6859G>T)
c.6799G>T (p.Val2267Phe)
c.6853G>T (p.Val2285Phe)
c.*6175G>T (n.*6175G>T)
c.230+13475G>T
c.6883G>T (p.Val2295Phe)
c.6778G>T (p.Val2260Phe)
c.6769G>T (p.Val2257Phe)
c.6730G>T (p.Val2244Phe)
c.6676G>T (p.Val2226Phe)
c.6580G>T (p.Val2194Phe)
c.6550G>T (p.Val2184Phe)
c.6475G>T (p.Val2159Phe)
c.6373G>T (p.Val2125Phe)
c.6004G>T (p.Val2002Phe)
ClinVar
5g.112842448T>ACA16036293APCc.6908T>A (p.Val2303Asp)
c.*6860T>A (n.*6860T>A)
c.6800T>A (p.Val2267Asp)
c.6854T>A (p.Val2285Asp)
c.*6176T>A (n.*6176T>A)
c.230+13476T>A
c.6884T>A (p.Val2295Asp)
c.6779T>A (p.Val2260Asp)
c.6770T>A (p.Val2257Asp)
c.6731T>A (p.Val2244Asp)
c.6677T>A (p.Val2226Asp)
c.6581T>A (p.Val2194Asp)
c.6551T>A (p.Val2184Asp)
c.6476T>A (p.Val2159Asp)
c.6374T>A (p.Val2125Asp)
c.6005T>A (p.Val2002Asp)
dbSNP
5g.112842448T>CCA16036294APCc.6908T>C (p.Val2303Ala)
c.*6860T>C (n.*6860T>C)
c.6800T>C (p.Val2267Ala)
c.6854T>C (p.Val2285Ala)
c.*6176T>C (n.*6176T>C)
c.230+13476T>C
c.6884T>C (p.Val2295Ala)
c.6779T>C (p.Val2260Ala)
c.6770T>C (p.Val2257Ala)
c.6731T>C (p.Val2244Ala)
c.6677T>C (p.Val2226Ala)
c.6581T>C (p.Val2194Ala)
c.6551T>C (p.Val2184Ala)
c.6476T>C (p.Val2159Ala)
c.6374T>C (p.Val2125Ala)
c.6005T>C (p.Val2002Ala)
ClinVar dbSNP COSMIC
5g.112842448T>GCA16036295APCc.6908T>G (p.Val2303Gly)
c.*6860T>G (n.*6860T>G)
c.6800T>G (p.Val2267Gly)
c.6854T>G (p.Val2285Gly)
c.*6176T>G (n.*6176T>G)
c.230+13476T>G
c.6884T>G (p.Val2295Gly)
c.6779T>G (p.Val2260Gly)
c.6770T>G (p.Val2257Gly)
c.6731T>G (p.Val2244Gly)
c.6677T>G (p.Val2226Gly)
c.6581T>G (p.Val2194Gly)
c.6551T>G (p.Val2184Gly)
c.6476T>G (p.Val2159Gly)
c.6374T>G (p.Val2125Gly)
c.6005T>G (p.Val2002Gly)
dbSNP
5g.112842448T=CA1573485141APCc.6908T= (p.Val2303=)
c.*6860T= (n.*6860T=)
c.6800T= (p.Val2267=)
c.6854T= (p.Val2285=)
c.*6176T= (n.*6176T=)
c.230+13476T=
c.6884T= (p.Val2295=)
c.6779T= (p.Val2260=)
c.6770T= (p.Val2257=)
c.6731T= (p.Val2244=)
c.6677T= (p.Val2226=)
c.6581T= (p.Val2194=)
c.6551T= (p.Val2184=)
c.6476T= (p.Val2159=)
c.6374T= (p.Val2125=)
c.6005T= (p.Val2002=)
5g.112842449T>ACA446210376APCc.6909T>A (p.Val2303=)
c.*6861T>A (n.*6861T>A)
c.6801T>A (p.Val2267=)
c.6855T>A (p.Val2285=)
c.*6177T>A (n.*6177T>A)
c.230+13477T>A
c.6885T>A (p.Val2295=)
c.6780T>A (p.Val2260=)
c.6771T>A (p.Val2257=)
c.6732T>A (p.Val2244=)
c.6678T>A (p.Val2226=)
c.6582T>A (p.Val2194=)
c.6552T>A (p.Val2184=)
c.6477T>A (p.Val2159=)
c.6375T>A (p.Val2125=)
c.6006T>A (p.Val2002=)
dbSNP
5g.112842449T>CCA16605189APCc.6909T>C (p.Val2303=)
c.*6861T>C (n.*6861T>C)
c.6801T>C (p.Val2267=)
c.6855T>C (p.Val2285=)
c.*6177T>C (n.*6177T>C)
c.230+13477T>C
c.6885T>C (p.Val2295=)
c.6780T>C (p.Val2260=)
c.6771T>C (p.Val2257=)
c.6732T>C (p.Val2244=)
c.6678T>C (p.Val2226=)
c.6582T>C (p.Val2194=)
c.6552T>C (p.Val2184=)
c.6477T>C (p.Val2159=)
c.6375T>C (p.Val2125=)
c.6006T>C (p.Val2002=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842449T>GCA446210378APCc.6909T>G (p.Val2303=)
c.*6861T>G (n.*6861T>G)
c.6801T>G (p.Val2267=)
c.6855T>G (p.Val2285=)
c.*6177T>G (n.*6177T>G)
c.230+13477T>G
c.6885T>G (p.Val2295=)
c.6780T>G (p.Val2260=)
c.6771T>G (p.Val2257=)
c.6732T>G (p.Val2244=)
c.6678T>G (p.Val2226=)
c.6582T>G (p.Val2194=)
c.6552T>G (p.Val2184=)
c.6477T>G (p.Val2159=)
c.6375T>G (p.Val2125=)
c.6006T>G (p.Val2002=)
ClinVar dbSNP gnomAD v4
5g.112842449T=CA1573485151APCc.6909T= (p.Val2303=)
c.*6861T= (n.*6861T=)
c.6801T= (p.Val2267=)
c.6855T= (p.Val2285=)
c.*6177T= (n.*6177T=)
c.230+13477T=
c.6885T= (p.Val2295=)
c.6780T= (p.Val2260=)
c.6771T= (p.Val2257=)
c.6732T= (p.Val2244=)
c.6678T= (p.Val2226=)
c.6582T= (p.Val2194=)
c.6552T= (p.Val2184=)
c.6477T= (p.Val2159=)
c.6375T= (p.Val2125=)
c.6006T= (p.Val2002=)
5g.112842450G>ACA16036296APCc.6910G>A (p.Ala2304Thr)
c.*6862G>A (n.*6862G>A)
c.6802G>A (p.Ala2268Thr)
c.6856G>A (p.Ala2286Thr)
c.*6178G>A (n.*6178G>A)
c.230+13478G>A
c.6886G>A (p.Ala2296Thr)
c.6781G>A (p.Ala2261Thr)
c.6772G>A (p.Ala2258Thr)
c.6733G>A (p.Ala2245Thr)
c.6679G>A (p.Ala2227Thr)
c.6583G>A (p.Ala2195Thr)
c.6553G>A (p.Ala2185Thr)
c.6478G>A (p.Ala2160Thr)
c.6376G>A (p.Ala2126Thr)
c.6007G>A (p.Ala2003Thr)
dbSNP
5g.112842450G>CCA16036297APCc.6910G>C (p.Ala2304Pro)
c.*6862G>C (n.*6862G>C)
c.6802G>C (p.Ala2268Pro)
c.6856G>C (p.Ala2286Pro)
c.*6178G>C (n.*6178G>C)
c.230+13478G>C
c.6886G>C (p.Ala2296Pro)
c.6781G>C (p.Ala2261Pro)
c.6772G>C (p.Ala2258Pro)
c.6733G>C (p.Ala2245Pro)
c.6679G>C (p.Ala2227Pro)
c.6583G>C (p.Ala2195Pro)
c.6553G>C (p.Ala2185Pro)
c.6478G>C (p.Ala2160Pro)
c.6376G>C (p.Ala2126Pro)
c.6007G>C (p.Ala2003Pro)
5g.112842450G>TCA16036298APCc.6910G>T (p.Ala2304Ser)
c.*6862G>T (n.*6862G>T)
c.6802G>T (p.Ala2268Ser)
c.6856G>T (p.Ala2286Ser)
c.*6178G>T (n.*6178G>T)
c.230+13478G>T
c.6886G>T (p.Ala2296Ser)
c.6781G>T (p.Ala2261Ser)
c.6772G>T (p.Ala2258Ser)
c.6733G>T (p.Ala2245Ser)
c.6679G>T (p.Ala2227Ser)
c.6583G>T (p.Ala2195Ser)
c.6553G>T (p.Ala2185Ser)
c.6478G>T (p.Ala2160Ser)
c.6376G>T (p.Ala2126Ser)
c.6007G>T (p.Ala2003Ser)
ClinVar COSMIC
5g.112842451C>ACA16036299APCc.6911C>A (p.Ala2304Asp)
c.*6863C>A (n.*6863C>A)
c.6803C>A (p.Ala2268Asp)
c.6857C>A (p.Ala2286Asp)
c.*6179C>A (n.*6179C>A)
c.230+13479C>A
c.6887C>A (p.Ala2296Asp)
c.6782C>A (p.Ala2261Asp)
c.6773C>A (p.Ala2258Asp)
c.6734C>A (p.Ala2245Asp)
c.6680C>A (p.Ala2227Asp)
c.6584C>A (p.Ala2195Asp)
c.6554C>A (p.Ala2185Asp)
c.6479C>A (p.Ala2160Asp)
c.6377C>A (p.Ala2126Asp)
c.6008C>A (p.Ala2003Asp)
dbSNP
5g.112842451C=CA1573485154APCc.6911C= (p.Ala2304=)
c.*6863C= (n.*6863C=)
c.6803C= (p.Ala2268=)
c.6857C= (p.Ala2286=)
c.*6179C= (n.*6179C=)
c.230+13479C=
c.6887C= (p.Ala2296=)
c.6782C= (p.Ala2261=)
c.6773C= (p.Ala2258=)
c.6734C= (p.Ala2245=)
c.6680C= (p.Ala2227=)
c.6584C= (p.Ala2195=)
c.6554C= (p.Ala2185=)
c.6479C= (p.Ala2160=)
c.6377C= (p.Ala2126=)
c.6008C= (p.Ala2003=)
5g.112842451C>GCA16036300APCc.6911C>G (p.Ala2304Gly)
c.*6863C>G (n.*6863C>G)
c.6803C>G (p.Ala2268Gly)
c.6857C>G (p.Ala2286Gly)
c.*6179C>G (n.*6179C>G)
c.230+13479C>G
c.6887C>G (p.Ala2296Gly)
c.6782C>G (p.Ala2261Gly)
c.6773C>G (p.Ala2258Gly)
c.6734C>G (p.Ala2245Gly)
c.6680C>G (p.Ala2227Gly)
c.6584C>G (p.Ala2195Gly)
c.6554C>G (p.Ala2185Gly)
c.6479C>G (p.Ala2160Gly)
c.6377C>G (p.Ala2126Gly)
c.6008C>G (p.Ala2003Gly)
dbSNP
5g.112842451C>TCA012589APCc.6911C>T (p.Ala2304Val)
c.*6863C>T (n.*6863C>T)
c.6803C>T (p.Ala2268Val)
c.6857C>T (p.Ala2286Val)
c.*6179C>T (n.*6179C>T)
c.230+13479C>T
c.6887C>T (p.Ala2296Val)
c.6782C>T (p.Ala2261Val)
c.6773C>T (p.Ala2258Val)
c.6734C>T (p.Ala2245Val)
c.6680C>T (p.Ala2227Val)
c.6584C>T (p.Ala2195Val)
c.6554C>T (p.Ala2185Val)
c.6479C>T (p.Ala2160Val)
c.6377C>T (p.Ala2126Val)
c.6008C>T (p.Ala2003Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842452C>ACA446210380APCc.6912C>A (p.Ala2304=)
c.*6864C>A (n.*6864C>A)
c.6804C>A (p.Ala2268=)
c.6858C>A (p.Ala2286=)
c.*6180C>A (n.*6180C>A)
c.230+13480C>A
c.6888C>A (p.Ala2296=)
c.6783C>A (p.Ala2261=)
c.6774C>A (p.Ala2258=)
c.6735C>A (p.Ala2245=)
c.6681C>A (p.Ala2227=)
c.6585C>A (p.Ala2195=)
c.6555C>A (p.Ala2185=)
c.6480C>A (p.Ala2160=)
c.6378C>A (p.Ala2126=)
c.6009C>A (p.Ala2003=)
dbSNP
5g.112842452C=CA1573485163APCc.6912C= (p.Ala2304=)
c.*6864C= (n.*6864C=)
c.6804C= (p.Ala2268=)
c.6858C= (p.Ala2286=)
c.*6180C= (n.*6180C=)
c.230+13480C=
c.6888C= (p.Ala2296=)
c.6783C= (p.Ala2261=)
c.6774C= (p.Ala2258=)
c.6735C= (p.Ala2245=)
c.6681C= (p.Ala2227=)
c.6585C= (p.Ala2195=)
c.6555C= (p.Ala2185=)
c.6480C= (p.Ala2160=)
c.6378C= (p.Ala2126=)
c.6009C= (p.Ala2003=)
5g.112842452C>GCA446210381APCc.6912C>G (p.Ala2304=)
c.*6864C>G (n.*6864C>G)
c.6804C>G (p.Ala2268=)
c.6858C>G (p.Ala2286=)
c.*6180C>G (n.*6180C>G)
c.230+13480C>G
c.6888C>G (p.Ala2296=)
c.6783C>G (p.Ala2261=)
c.6774C>G (p.Ala2258=)
c.6735C>G (p.Ala2245=)
c.6681C>G (p.Ala2227=)
c.6585C>G (p.Ala2195=)
c.6555C>G (p.Ala2185=)
c.6480C>G (p.Ala2160=)
c.6378C>G (p.Ala2126=)
c.6009C>G (p.Ala2003=)
ClinVar dbSNP
5g.112842452C>TCA446210383APCc.6912C>T (p.Ala2304=)
c.*6864C>T (n.*6864C>T)
c.6804C>T (p.Ala2268=)
c.6858C>T (p.Ala2286=)
c.*6180C>T (n.*6180C>T)
c.230+13480C>T
c.6888C>T (p.Ala2296=)
c.6783C>T (p.Ala2261=)
c.6774C>T (p.Ala2258=)
c.6735C>T (p.Ala2245=)
c.6681C>T (p.Ala2227=)
c.6585C>T (p.Ala2195=)
c.6555C>T (p.Ala2185=)
c.6480C>T (p.Ala2160=)
c.6378C>T (p.Ala2126=)
c.6009C>T (p.Ala2003=)
ClinVar dbSNP gnomAD v4
5g.112842453A>CCA446210384APCc.6913A>C (p.Arg2305=)
c.*6865A>C (n.*6865A>C)
c.6805A>C (p.Arg2269=)
c.6859A>C (p.Arg2287=)
c.*6181A>C (n.*6181A>C)
c.230+13481A>C
c.6889A>C (p.Arg2297=)
c.6784A>C (p.Arg2262=)
c.6775A>C (p.Arg2259=)
c.6736A>C (p.Arg2246=)
c.6682A>C (p.Arg2228=)
c.6586A>C (p.Arg2196=)
c.6556A>C (p.Arg2186=)
c.6481A>C (p.Arg2161=)
c.6379A>C (p.Arg2127=)
c.6010A>C (p.Arg2004=)
5g.112842453A>GCA16036301APCc.6913A>G (p.Arg2305Gly)
c.*6865A>G (n.*6865A>G)
c.6805A>G (p.Arg2269Gly)
c.6859A>G (p.Arg2287Gly)
c.*6181A>G (n.*6181A>G)
c.230+13481A>G
c.6889A>G (p.Arg2297Gly)
c.6784A>G (p.Arg2262Gly)
c.6775A>G (p.Arg2259Gly)
c.6736A>G (p.Arg2246Gly)
c.6682A>G (p.Arg2228Gly)
c.6586A>G (p.Arg2196Gly)
c.6556A>G (p.Arg2186Gly)
c.6481A>G (p.Arg2161Gly)
c.6379A>G (p.Arg2127Gly)
c.6010A>G (p.Arg2004Gly)
gnomAD v4
5g.112842453A>TCA16036302APCc.6913A>T (p.Arg2305Trp)
c.*6865A>T (n.*6865A>T)
c.6805A>T (p.Arg2269Trp)
c.6859A>T (p.Arg2287Trp)
c.*6181A>T (n.*6181A>T)
c.230+13481A>T
c.6889A>T (p.Arg2297Trp)
c.6784A>T (p.Arg2262Trp)
c.6775A>T (p.Arg2259Trp)
c.6736A>T (p.Arg2246Trp)
c.6682A>T (p.Arg2228Trp)
c.6586A>T (p.Arg2196Trp)
c.6556A>T (p.Arg2186Trp)
c.6481A>T (p.Arg2161Trp)
c.6379A>T (p.Arg2127Trp)
c.6010A>T (p.Arg2004Trp)
5g.112842454G>ACA10578436APCc.6914G>A (p.Arg2305Lys)
c.*6866G>A (n.*6866G>A)
c.6806G>A (p.Arg2269Lys)
c.6860G>A (p.Arg2287Lys)
c.*6182G>A (n.*6182G>A)
c.230+13482G>A
c.6890G>A (p.Arg2297Lys)
c.6785G>A (p.Arg2262Lys)
c.6776G>A (p.Arg2259Lys)
c.6737G>A (p.Arg2246Lys)
c.6683G>A (p.Arg2228Lys)
c.6587G>A (p.Arg2196Lys)
c.6557G>A (p.Arg2186Lys)
c.6482G>A (p.Arg2161Lys)
c.6380G>A (p.Arg2127Lys)
c.6011G>A (p.Arg2004Lys)
ClinVar dbSNP
5g.112842454G>CCA16036303APCc.6914G>C (p.Arg2305Thr)
c.*6866G>C (n.*6866G>C)
c.6806G>C (p.Arg2269Thr)
c.6860G>C (p.Arg2287Thr)
c.*6182G>C (n.*6182G>C)
c.230+13482G>C
c.6890G>C (p.Arg2297Thr)
c.6785G>C (p.Arg2262Thr)
c.6776G>C (p.Arg2259Thr)
c.6737G>C (p.Arg2246Thr)
c.6683G>C (p.Arg2228Thr)
c.6587G>C (p.Arg2196Thr)
c.6557G>C (p.Arg2186Thr)
c.6482G>C (p.Arg2161Thr)
c.6380G>C (p.Arg2127Thr)
c.6011G>C (p.Arg2004Thr)
dbSNP
5g.112842454G=CA1573485170APCc.6914G= (p.Arg2305=)
c.*6866G= (n.*6866G=)
c.6806G= (p.Arg2269=)
c.6860G= (p.Arg2287=)
c.*6182G= (n.*6182G=)
c.230+13482G=
c.6890G= (p.Arg2297=)
c.6785G= (p.Arg2262=)
c.6776G= (p.Arg2259=)
c.6737G= (p.Arg2246=)
c.6683G= (p.Arg2228=)
c.6587G= (p.Arg2196=)
c.6557G= (p.Arg2186=)
c.6482G= (p.Arg2161=)
c.6380G= (p.Arg2127=)
c.6011G= (p.Arg2004=)
5g.112842454G>TCA16036304APCc.6914G>T (p.Arg2305Met)
c.*6866G>T (n.*6866G>T)
c.6806G>T (p.Arg2269Met)
c.6860G>T (p.Arg2287Met)
c.*6182G>T (n.*6182G>T)
c.230+13482G>T
c.6890G>T (p.Arg2297Met)
c.6785G>T (p.Arg2262Met)
c.6776G>T (p.Arg2259Met)
c.6737G>T (p.Arg2246Met)
c.6683G>T (p.Arg2228Met)
c.6587G>T (p.Arg2196Met)
c.6557G>T (p.Arg2186Met)
c.6482G>T (p.Arg2161Met)
c.6380G>T (p.Arg2127Met)
c.6011G>T (p.Arg2004Met)
dbSNP
5g.112842455G>ACA446210386APCc.6915G>A (p.Arg2305=)
c.*6867G>A (n.*6867G>A)
c.6807G>A (p.Arg2269=)
c.6861G>A (p.Arg2287=)
c.*6183G>A (n.*6183G>A)
c.230+13483G>A
c.6891G>A (p.Arg2297=)
c.6786G>A (p.Arg2262=)
c.6777G>A (p.Arg2259=)
c.6738G>A (p.Arg2246=)
c.6684G>A (p.Arg2228=)
c.6588G>A (p.Arg2196=)
c.6558G>A (p.Arg2186=)
c.6483G>A (p.Arg2161=)
c.6381G>A (p.Arg2127=)
c.6012G>A (p.Arg2004=)
dbSNP
5g.112842455G>CCA16036305APCc.6915G>C (p.Arg2305Ser)
c.*6867G>C (n.*6867G>C)
c.6807G>C (p.Arg2269Ser)
c.6861G>C (p.Arg2287Ser)
c.*6183G>C (n.*6183G>C)
c.230+13483G>C
c.6891G>C (p.Arg2297Ser)
c.6786G>C (p.Arg2262Ser)
c.6777G>C (p.Arg2259Ser)
c.6738G>C (p.Arg2246Ser)
c.6684G>C (p.Arg2228Ser)
c.6588G>C (p.Arg2196Ser)
c.6558G>C (p.Arg2186Ser)
c.6483G>C (p.Arg2161Ser)
c.6381G>C (p.Arg2127Ser)
c.6012G>C (p.Arg2004Ser)
dbSNP
5g.112842455G>TCA16036306APCc.6915G>T (p.Arg2305Ser)
c.*6867G>T (n.*6867G>T)
c.6807G>T (p.Arg2269Ser)
c.6861G>T (p.Arg2287Ser)
c.*6183G>T (n.*6183G>T)
c.230+13483G>T
c.6891G>T (p.Arg2297Ser)
c.6786G>T (p.Arg2262Ser)
c.6777G>T (p.Arg2259Ser)
c.6738G>T (p.Arg2246Ser)
c.6684G>T (p.Arg2228Ser)
c.6588G>T (p.Arg2196Ser)
c.6558G>T (p.Arg2186Ser)
c.6483G>T (p.Arg2161Ser)
c.6381G>T (p.Arg2127Ser)
c.6012G>T (p.Arg2004Ser)
dbSNP gnomAD v4
5g.112842456C>ACA16036307APCc.6916C>A (p.Gln2306Lys)
c.*6868C>A (n.*6868C>A)
c.6808C>A (p.Gln2270Lys)
c.6862C>A (p.Gln2288Lys)
c.*6184C>A (n.*6184C>A)
c.230+13484C>A
c.6892C>A (p.Gln2298Lys)
c.6787C>A (p.Gln2263Lys)
c.6778C>A (p.Gln2260Lys)
c.6739C>A (p.Gln2247Lys)
c.6685C>A (p.Gln2229Lys)
c.6589C>A (p.Gln2197Lys)
c.6559C>A (p.Gln2187Lys)
c.6484C>A (p.Gln2162Lys)
c.6382C>A (p.Gln2128Lys)
c.6013C>A (p.Gln2005Lys)
dbSNP gnomAD v2 gnomAD v4
5g.112842456C=CA1573485174APCc.6916C= (p.Gln2306=)
c.*6868C= (n.*6868C=)
c.6808C= (p.Gln2270=)
c.6862C= (p.Gln2288=)
c.*6184C= (n.*6184C=)
c.230+13484C=
c.6892C= (p.Gln2298=)
c.6787C= (p.Gln2263=)
c.6778C= (p.Gln2260=)
c.6739C= (p.Gln2247=)
c.6685C= (p.Gln2229=)
c.6589C= (p.Gln2197=)
c.6559C= (p.Gln2187=)
c.6484C= (p.Gln2162=)
c.6382C= (p.Gln2128=)
c.6013C= (p.Gln2005=)
5g.112842456C>GCA16036308APCc.6916C>G (p.Gln2306Glu)
c.*6868C>G (n.*6868C>G)
c.6808C>G (p.Gln2270Glu)
c.6862C>G (p.Gln2288Glu)
c.*6184C>G (n.*6184C>G)
c.230+13484C>G
c.6892C>G (p.Gln2298Glu)
c.6787C>G (p.Gln2263Glu)
c.6778C>G (p.Gln2260Glu)
c.6739C>G (p.Gln2247Glu)
c.6685C>G (p.Gln2229Glu)
c.6589C>G (p.Gln2197Glu)
c.6559C>G (p.Gln2187Glu)
c.6484C>G (p.Gln2162Glu)
c.6382C>G (p.Gln2128Glu)
c.6013C>G (p.Gln2005Glu)
ClinVar dbSNP gnomAD v4
5g.112842456C>TCA16036309APCc.6916C>T (p.Gln2306Ter)
c.*6868C>T (n.*6868C>T)
c.6808C>T (p.Gln2270Ter)
c.6862C>T (p.Gln2288Ter)
c.*6184C>T (n.*6184C>T)
c.230+13484C>T
c.6892C>T (p.Gln2298Ter)
c.6787C>T (p.Gln2263Ter)
c.6778C>T (p.Gln2260Ter)
c.6739C>T (p.Gln2247Ter)
c.6685C>T (p.Gln2229Ter)
c.6589C>T (p.Gln2197Ter)
c.6559C>T (p.Gln2187Ter)
c.6484C>T (p.Gln2162Ter)
c.6382C>T (p.Gln2128Ter)
c.6013C>T (p.Gln2005Ter)
ClinVar dbSNP
5g.112842457A=CA1573485182APCc.6917A= (p.Gln2306=)
c.*6869A= (n.*6869A=)
c.6809A= (p.Gln2270=)
c.6863A= (p.Gln2288=)
c.*6185A= (n.*6185A=)
c.230+13485A=
c.6893A= (p.Gln2298=)
c.6788A= (p.Gln2263=)
c.6779A= (p.Gln2260=)
c.6740A= (p.Gln2247=)
c.6686A= (p.Gln2229=)
c.6590A= (p.Gln2197=)
c.6560A= (p.Gln2187=)
c.6485A= (p.Gln2162=)
c.6383A= (p.Gln2128=)
c.6014A= (p.Gln2005=)
5g.112842457A>CCA16036310APCc.6917A>C (p.Gln2306Pro)
c.*6869A>C (n.*6869A>C)
c.6809A>C (p.Gln2270Pro)
c.6863A>C (p.Gln2288Pro)
c.*6185A>C (n.*6185A>C)
c.230+13485A>C
c.6893A>C (p.Gln2298Pro)
c.6788A>C (p.Gln2263Pro)
c.6779A>C (p.Gln2260Pro)
c.6740A>C (p.Gln2247Pro)
c.6686A>C (p.Gln2229Pro)
c.6590A>C (p.Gln2197Pro)
c.6560A>C (p.Gln2187Pro)
c.6485A>C (p.Gln2162Pro)
c.6383A>C (p.Gln2128Pro)
c.6014A>C (p.Gln2005Pro)
5g.112842457A>GCA16036311APCc.6917A>G (p.Gln2306Arg)
c.*6869A>G (n.*6869A>G)
c.6809A>G (p.Gln2270Arg)
c.6863A>G (p.Gln2288Arg)
c.*6185A>G (n.*6185A>G)
c.230+13485A>G
c.6893A>G (p.Gln2298Arg)
c.6788A>G (p.Gln2263Arg)
c.6779A>G (p.Gln2260Arg)
c.6740A>G (p.Gln2247Arg)
c.6686A>G (p.Gln2229Arg)
c.6590A>G (p.Gln2197Arg)
c.6560A>G (p.Gln2187Arg)
c.6485A>G (p.Gln2162Arg)
c.6383A>G (p.Gln2128Arg)
c.6014A>G (p.Gln2005Arg)
ClinVar dbSNP
5g.112842457A>TCA16036312APCc.6917A>T (p.Gln2306Leu)
c.*6869A>T (n.*6869A>T)
c.6809A>T (p.Gln2270Leu)
c.6863A>T (p.Gln2288Leu)
c.*6185A>T (n.*6185A>T)
c.230+13485A>T
c.6893A>T (p.Gln2298Leu)
c.6788A>T (p.Gln2263Leu)
c.6779A>T (p.Gln2260Leu)
c.6740A>T (p.Gln2247Leu)
c.6686A>T (p.Gln2229Leu)
c.6590A>T (p.Gln2197Leu)
c.6560A>T (p.Gln2187Leu)
c.6485A>T (p.Gln2162Leu)
c.6383A>T (p.Gln2128Leu)
c.6014A>T (p.Gln2005Leu)
dbSNP
5g.112842458delCA2510193898APCc.6918del (p.Thr2307HisfsTer4)
c.*6870del (n.*6870del)
c.6810del (p.Thr2271HisfsTer4)
c.6864del (p.Thr2289HisfsTer4)
c.*6186del (n.*6186del)
c.230+13486del
c.6894del (p.Thr2299HisfsTer4)
c.6789del (p.Thr2264HisfsTer4)
c.6780del (p.Thr2261HisfsTer4)
c.6741del (p.Thr2248HisfsTer4)
c.6687del (p.Thr2230HisfsTer4)
c.6591del (p.Thr2198HisfsTer4)
c.6561del (p.Thr2188HisfsTer4)
c.6486del (p.Thr2163HisfsTer4)
c.6384del (p.Thr2129HisfsTer4)
c.6015del (p.Thr2006HisfsTer4)
5g.112842458G>ACA446210391APCc.6918G>A (p.Gln2306=)
c.*6870G>A (n.*6870G>A)
c.6810G>A (p.Gln2270=)
c.6864G>A (p.Gln2288=)
c.*6186G>A (n.*6186G>A)
c.230+13486G>A
c.6894G>A (p.Gln2298=)
c.6789G>A (p.Gln2263=)
c.6780G>A (p.Gln2260=)
c.6741G>A (p.Gln2247=)
c.6687G>A (p.Gln2229=)
c.6591G>A (p.Gln2197=)
c.6561G>A (p.Gln2187=)
c.6486G>A (p.Gln2162=)
c.6384G>A (p.Gln2128=)
c.6015G>A (p.Gln2005=)
dbSNP
5g.112842458G>CCA16036313APCc.6918G>C (p.Gln2306His)
c.*6870G>C (n.*6870G>C)
c.6810G>C (p.Gln2270His)
c.6864G>C (p.Gln2288His)
c.*6186G>C (n.*6186G>C)
c.230+13486G>C
c.6894G>C (p.Gln2298His)
c.6789G>C (p.Gln2263His)
c.6780G>C (p.Gln2260His)
c.6741G>C (p.Gln2247His)
c.6687G>C (p.Gln2229His)
c.6591G>C (p.Gln2197His)
c.6561G>C (p.Gln2187His)
c.6486G>C (p.Gln2162His)
c.6384G>C (p.Gln2128His)
c.6015G>C (p.Gln2005His)
dbSNP
5g.112842458G>TCA16036314APCc.6918G>T (p.Gln2306His)
c.*6870G>T (n.*6870G>T)
c.6810G>T (p.Gln2270His)
c.6864G>T (p.Gln2288His)
c.*6186G>T (n.*6186G>T)
c.230+13486G>T
c.6894G>T (p.Gln2298His)
c.6789G>T (p.Gln2263His)
c.6780G>T (p.Gln2260His)
c.6741G>T (p.Gln2247His)
c.6687G>T (p.Gln2229His)
c.6591G>T (p.Gln2197His)
c.6561G>T (p.Gln2187His)
c.6486G>T (p.Gln2162His)
c.6384G>T (p.Gln2128His)
c.6015G>T (p.Gln2005His)
dbSNP
5g.112842459A=CA1573485186APCc.6919A= (p.Thr2307=)
c.*6871A= (n.*6871A=)
c.6811A= (p.Thr2271=)
c.6865A= (p.Thr2289=)
c.*6187A= (n.*6187A=)
c.230+13487A=
c.6895A= (p.Thr2299=)
c.6790A= (p.Thr2264=)
c.6781A= (p.Thr2261=)
c.6742A= (p.Thr2248=)
c.6688A= (p.Thr2230=)
c.6592A= (p.Thr2198=)
c.6562A= (p.Thr2188=)
c.6487A= (p.Thr2163=)
c.6385A= (p.Thr2129=)
c.6016A= (p.Thr2006=)
5g.112842459A>CCA16036315APCc.6919A>C (p.Thr2307Pro)
c.*6871A>C (n.*6871A>C)
c.6811A>C (p.Thr2271Pro)
c.6865A>C (p.Thr2289Pro)
c.*6187A>C (n.*6187A>C)
c.230+13487A>C
c.6895A>C (p.Thr2299Pro)
c.6790A>C (p.Thr2264Pro)
c.6781A>C (p.Thr2261Pro)
c.6742A>C (p.Thr2248Pro)
c.6688A>C (p.Thr2230Pro)
c.6592A>C (p.Thr2198Pro)
c.6562A>C (p.Thr2188Pro)
c.6487A>C (p.Thr2163Pro)
c.6385A>C (p.Thr2129Pro)
c.6016A>C (p.Thr2006Pro)
dbSNP
5g.112842459A>GCA16036316APCc.6919A>G (p.Thr2307Ala)
c.*6871A>G (n.*6871A>G)
c.6811A>G (p.Thr2271Ala)
c.6865A>G (p.Thr2289Ala)
c.*6187A>G (n.*6187A>G)
c.230+13487A>G
c.6895A>G (p.Thr2299Ala)
c.6790A>G (p.Thr2264Ala)
c.6781A>G (p.Thr2261Ala)
c.6742A>G (p.Thr2248Ala)
c.6688A>G (p.Thr2230Ala)
c.6592A>G (p.Thr2198Ala)
c.6562A>G (p.Thr2188Ala)
c.6487A>G (p.Thr2163Ala)
c.6385A>G (p.Thr2129Ala)
c.6016A>G (p.Thr2006Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842459A>TCA16036317APCc.6919A>T (p.Thr2307Ser)
c.*6871A>T (n.*6871A>T)
c.6811A>T (p.Thr2271Ser)
c.6865A>T (p.Thr2289Ser)
c.*6187A>T (n.*6187A>T)
c.230+13487A>T
c.6895A>T (p.Thr2299Ser)
c.6790A>T (p.Thr2264Ser)
c.6781A>T (p.Thr2261Ser)
c.6742A>T (p.Thr2248Ser)
c.6688A>T (p.Thr2230Ser)
c.6592A>T (p.Thr2198Ser)
c.6562A>T (p.Thr2188Ser)
c.6487A>T (p.Thr2163Ser)
c.6385A>T (p.Thr2129Ser)
c.6016A>T (p.Thr2006Ser)
dbSNP
5g.112842460C>ACA16036318APCc.6920C>A (p.Thr2307Lys)
c.*6872C>A (n.*6872C>A)
c.6812C>A (p.Thr2271Lys)
c.6866C>A (p.Thr2289Lys)
c.*6188C>A (n.*6188C>A)
c.230+13488C>A
c.6896C>A (p.Thr2299Lys)
c.6791C>A (p.Thr2264Lys)
c.6782C>A (p.Thr2261Lys)
c.6743C>A (p.Thr2248Lys)
c.6689C>A (p.Thr2230Lys)
c.6593C>A (p.Thr2198Lys)
c.6563C>A (p.Thr2188Lys)
c.6488C>A (p.Thr2163Lys)
c.6386C>A (p.Thr2129Lys)
c.6017C>A (p.Thr2006Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842460C=CA1573485192APCc.6920C= (p.Thr2307=)
c.*6872C= (n.*6872C=)
c.6812C= (p.Thr2271=)
c.6866C= (p.Thr2289=)
c.*6188C= (n.*6188C=)
c.230+13488C=
c.6896C= (p.Thr2299=)
c.6791C= (p.Thr2264=)
c.6782C= (p.Thr2261=)
c.6743C= (p.Thr2248=)
c.6689C= (p.Thr2230=)
c.6593C= (p.Thr2198=)
c.6563C= (p.Thr2188=)
c.6488C= (p.Thr2163=)
c.6386C= (p.Thr2129=)
c.6017C= (p.Thr2006=)
5g.112842460C>GCA16036319APCc.6920C>G (p.Thr2307Arg)
c.*6872C>G (n.*6872C>G)
c.6812C>G (p.Thr2271Arg)
c.6866C>G (p.Thr2289Arg)
c.*6188C>G (n.*6188C>G)
c.230+13488C>G
c.6896C>G (p.Thr2299Arg)
c.6791C>G (p.Thr2264Arg)
c.6782C>G (p.Thr2261Arg)
c.6743C>G (p.Thr2248Arg)
c.6689C>G (p.Thr2230Arg)
c.6593C>G (p.Thr2198Arg)
c.6563C>G (p.Thr2188Arg)
c.6488C>G (p.Thr2163Arg)
c.6386C>G (p.Thr2129Arg)
c.6017C>G (p.Thr2006Arg)
dbSNP
5g.112842460C>TCA10578437APCc.6920C>T (p.Thr2307Ile)
c.*6872C>T (n.*6872C>T)
c.6812C>T (p.Thr2271Ile)
c.6866C>T (p.Thr2289Ile)
c.*6188C>T (n.*6188C>T)
c.230+13488C>T
c.6896C>T (p.Thr2299Ile)
c.6791C>T (p.Thr2264Ile)
c.6782C>T (p.Thr2261Ile)
c.6743C>T (p.Thr2248Ile)
c.6689C>T (p.Thr2230Ile)
c.6593C>T (p.Thr2198Ile)
c.6563C>T (p.Thr2188Ile)
c.6488C>T (p.Thr2163Ile)
c.6386C>T (p.Thr2129Ile)
c.6017C>T (p.Thr2006Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842460_112842461insTCA2571277063APCc.6920_6921insT (p.Ser2308IlefsTer8)
c.*6872_*6873insT (n.*6872_*6873insT)
c.6812_6813insT (p.Ser2272IlefsTer8)
c.6866_6867insT (p.Ser2290IlefsTer8)
c.*6188_*6189insT (n.*6188_*6189insT)
c.230+13488_230+13489insT
c.6896_6897insT (p.Ser2300IlefsTer8)
c.6791_6792insT (p.Ser2265IlefsTer8)
c.6782_6783insT (p.Ser2262IlefsTer8)
c.6743_6744insT (p.Ser2249IlefsTer8)
c.6689_6690insT (p.Ser2231IlefsTer8)
c.6593_6594insT (p.Ser2199IlefsTer8)
c.6563_6564insT (p.Ser2189IlefsTer8)
c.6488_6489insT (p.Ser2164IlefsTer8)
c.6386_6387insT (p.Ser2130IlefsTer8)
c.6017_6018insT (p.Ser2007IlefsTer8)
5g.112842461A=CA1573485200APCc.6921A= (p.Thr2307=)
c.*6873A= (n.*6873A=)
c.6813A= (p.Thr2271=)
c.6867A= (p.Thr2289=)
c.*6189A= (n.*6189A=)
c.230+13489A=
c.6897A= (p.Thr2299=)
c.6792A= (p.Thr2264=)
c.6783A= (p.Thr2261=)
c.6744A= (p.Thr2248=)
c.6690A= (p.Thr2230=)
c.6594A= (p.Thr2198=)
c.6564A= (p.Thr2188=)
c.6489A= (p.Thr2163=)
c.6387A= (p.Thr2129=)
c.6018A= (p.Thr2006=)
5g.112842461A>CCA446210392APCc.6921A>C (p.Thr2307=)
c.*6873A>C (n.*6873A>C)
c.6813A>C (p.Thr2271=)
c.6867A>C (p.Thr2289=)
c.*6189A>C (n.*6189A>C)
c.230+13489A>C
c.6897A>C (p.Thr2299=)
c.6792A>C (p.Thr2264=)
c.6783A>C (p.Thr2261=)
c.6744A>C (p.Thr2248=)
c.6690A>C (p.Thr2230=)
c.6594A>C (p.Thr2198=)
c.6564A>C (p.Thr2188=)
c.6489A>C (p.Thr2163=)
c.6387A>C (p.Thr2129=)
c.6018A>C (p.Thr2006=)
5g.112842461A>GCA446210393APCc.6921A>G (p.Thr2307=)
c.*6873A>G (n.*6873A>G)
c.6813A>G (p.Thr2271=)
c.6867A>G (p.Thr2289=)
c.*6189A>G (n.*6189A>G)
c.230+13489A>G
c.6897A>G (p.Thr2299=)
c.6792A>G (p.Thr2264=)
c.6783A>G (p.Thr2261=)
c.6744A>G (p.Thr2248=)
c.6690A>G (p.Thr2230=)
c.6594A>G (p.Thr2198=)
c.6564A>G (p.Thr2188=)
c.6489A>G (p.Thr2163=)
c.6387A>G (p.Thr2129=)
c.6018A>G (p.Thr2006=)
5g.112842461A>TCA046312APCc.6921A>T (p.Thr2307=)
c.*6873A>T (n.*6873A>T)
c.6813A>T (p.Thr2271=)
c.6867A>T (p.Thr2289=)
c.*6189A>T (n.*6189A>T)
c.230+13489A>T
c.6897A>T (p.Thr2299=)
c.6792A>T (p.Thr2264=)
c.6783A>T (p.Thr2261=)
c.6744A>T (p.Thr2248=)
c.6690A>T (p.Thr2230=)
c.6594A>T (p.Thr2198=)
c.6564A>T (p.Thr2188=)
c.6489A>T (p.Thr2163=)
c.6387A>T (p.Thr2129=)
c.6018A>T (p.Thr2006=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842462T>ACA16036320APCc.6922T>A (p.Ser2308Thr)
c.*6874T>A (n.*6874T>A)
c.6814T>A (p.Ser2272Thr)
c.6868T>A (p.Ser2290Thr)
c.*6190T>A (n.*6190T>A)
c.230+13490T>A
c.6898T>A (p.Ser2300Thr)
c.6793T>A (p.Ser2265Thr)
c.6784T>A (p.Ser2262Thr)
c.6745T>A (p.Ser2249Thr)
c.6691T>A (p.Ser2231Thr)
c.6595T>A (p.Ser2199Thr)
c.6565T>A (p.Ser2189Thr)
c.6490T>A (p.Ser2164Thr)
c.6388T>A (p.Ser2130Thr)
c.6019T>A (p.Ser2007Thr)
dbSNP
5g.112842462T>CCA16036321APCc.6922T>C (p.Ser2308Pro)
c.*6874T>C (n.*6874T>C)
c.6814T>C (p.Ser2272Pro)
c.6868T>C (p.Ser2290Pro)
c.*6190T>C (n.*6190T>C)
c.230+13490T>C
c.6898T>C (p.Ser2300Pro)
c.6793T>C (p.Ser2265Pro)
c.6784T>C (p.Ser2262Pro)
c.6745T>C (p.Ser2249Pro)
c.6691T>C (p.Ser2231Pro)
c.6595T>C (p.Ser2199Pro)
c.6565T>C (p.Ser2189Pro)
c.6490T>C (p.Ser2164Pro)
c.6388T>C (p.Ser2130Pro)
c.6019T>C (p.Ser2007Pro)
ClinVar dbSNP
5g.112842462T>GCA16036322APCc.6922T>G (p.Ser2308Ala)
c.*6874T>G (n.*6874T>G)
c.6814T>G (p.Ser2272Ala)
c.6868T>G (p.Ser2290Ala)
c.*6190T>G (n.*6190T>G)
c.230+13490T>G
c.6898T>G (p.Ser2300Ala)
c.6793T>G (p.Ser2265Ala)
c.6784T>G (p.Ser2262Ala)
c.6745T>G (p.Ser2249Ala)
c.6691T>G (p.Ser2231Ala)
c.6595T>G (p.Ser2199Ala)
c.6565T>G (p.Ser2189Ala)
c.6490T>G (p.Ser2164Ala)
c.6388T>G (p.Ser2130Ala)
c.6019T>G (p.Ser2007Ala)
5g.112842463C>ACA16036323APCc.6923C>A (p.Ser2308Tyr)
c.*6875C>A (n.*6875C>A)
c.6815C>A (p.Ser2272Tyr)
c.6869C>A (p.Ser2290Tyr)
c.*6191C>A (n.*6191C>A)
c.230+13491C>A
c.6899C>A (p.Ser2300Tyr)
c.6794C>A (p.Ser2265Tyr)
c.6785C>A (p.Ser2262Tyr)
c.6746C>A (p.Ser2249Tyr)
c.6692C>A (p.Ser2231Tyr)
c.6596C>A (p.Ser2199Tyr)
c.6566C>A (p.Ser2189Tyr)
c.6491C>A (p.Ser2164Tyr)
c.6389C>A (p.Ser2130Tyr)
c.6020C>A (p.Ser2007Tyr)
dbSNP
5g.112842463C=CA1573485207APCc.6923C= (p.Ser2308=)
c.*6875C= (n.*6875C=)
c.6815C= (p.Ser2272=)
c.6869C= (p.Ser2290=)
c.*6191C= (n.*6191C=)
c.230+13491C=
c.6899C= (p.Ser2300=)
c.6794C= (p.Ser2265=)
c.6785C= (p.Ser2262=)
c.6746C= (p.Ser2249=)
c.6692C= (p.Ser2231=)
c.6596C= (p.Ser2199=)
c.6566C= (p.Ser2189=)
c.6491C= (p.Ser2164=)
c.6389C= (p.Ser2130=)
c.6020C= (p.Ser2007=)
5g.112842463C>GCA16036324APCc.6923C>G (p.Ser2308Cys)
c.*6875C>G (n.*6875C>G)
c.6815C>G (p.Ser2272Cys)
c.6869C>G (p.Ser2290Cys)
c.*6191C>G (n.*6191C>G)
c.230+13491C>G
c.6899C>G (p.Ser2300Cys)
c.6794C>G (p.Ser2265Cys)
c.6785C>G (p.Ser2262Cys)
c.6746C>G (p.Ser2249Cys)
c.6692C>G (p.Ser2231Cys)
c.6596C>G (p.Ser2199Cys)
c.6566C>G (p.Ser2189Cys)
c.6491C>G (p.Ser2164Cys)
c.6389C>G (p.Ser2130Cys)
c.6020C>G (p.Ser2007Cys)
dbSNP
5g.112842463C>TCA16036325APCc.6923C>T (p.Ser2308Phe)
c.*6875C>T (n.*6875C>T)
c.6815C>T (p.Ser2272Phe)
c.6869C>T (p.Ser2290Phe)
c.*6191C>T (n.*6191C>T)
c.230+13491C>T
c.6899C>T (p.Ser2300Phe)
c.6794C>T (p.Ser2265Phe)
c.6785C>T (p.Ser2262Phe)
c.6746C>T (p.Ser2249Phe)
c.6692C>T (p.Ser2231Phe)
c.6596C>T (p.Ser2199Phe)
c.6566C>T (p.Ser2189Phe)
c.6491C>T (p.Ser2164Phe)
c.6389C>T (p.Ser2130Phe)
c.6020C>T (p.Ser2007Phe)
ClinVar dbSNP gnomAD v4
5g.112842463_112842464insAGGGTTGAACA2571577490APCc.6923_6924insAGGGTTGAA (p.Ser2308_Gln2309insGlyLeuAsn)
c.*6875_*6876insAGGGTTGAA (n.*6875_*6876insAGGGTTGAA)
c.6815_6816insAGGGTTGAA (p.Ser2272_Gln2273insGlyLeuAsn)
c.6869_6870insAGGGTTGAA (p.Ser2290_Gln2291insGlyLeuAsn)
c.*6191_*6192insAGGGTTGAA (n.*6191_*6192insAGGGTTGAA)
c.230+13491_230+13492insAGGGTTGAA
c.6899_6900insAGGGTTGAA (p.Ser2300_Gln2301insGlyLeuAsn)
c.6794_6795insAGGGTTGAA (p.Ser2265_Gln2266insGlyLeuAsn)
c.6785_6786insAGGGTTGAA (p.Ser2262_Gln2263insGlyLeuAsn)
c.6746_6747insAGGGTTGAA (p.Ser2249_Gln2250insGlyLeuAsn)
c.6692_6693insAGGGTTGAA (p.Ser2231_Gln2232insGlyLeuAsn)
c.6596_6597insAGGGTTGAA (p.Ser2199_Gln2200insGlyLeuAsn)
c.6566_6567insAGGGTTGAA (p.Ser2189_Gln2190insGlyLeuAsn)
c.6491_6492insAGGGTTGAA (p.Ser2164_Gln2165insGlyLeuAsn)
c.6389_6390insAGGGTTGAA (p.Ser2130_Gln2131insGlyLeuAsn)
c.6020_6021insAGGGTTGAA (p.Ser2007_Gln2008insGlyLeuAsn)
5g.112842464C>ACA446210394APCc.6924C>A (p.Ser2308=)
c.*6876C>A (n.*6876C>A)
c.6816C>A (p.Ser2272=)
c.6870C>A (p.Ser2290=)
c.*6192C>A (n.*6192C>A)
c.230+13492C>A
c.6900C>A (p.Ser2300=)
c.6795C>A (p.Ser2265=)
c.6786C>A (p.Ser2262=)
c.6747C>A (p.Ser2249=)
c.6693C>A (p.Ser2231=)
c.6597C>A (p.Ser2199=)
c.6567C>A (p.Ser2189=)
c.6492C>A (p.Ser2164=)
c.6390C>A (p.Ser2130=)
c.6021C>A (p.Ser2007=)
dbSNP
5g.112842464C>GCA446210395APCc.6924C>G (p.Ser2308=)
c.*6876C>G (n.*6876C>G)
c.6816C>G (p.Ser2272=)
c.6870C>G (p.Ser2290=)
c.*6192C>G (n.*6192C>G)
c.230+13492C>G
c.6900C>G (p.Ser2300=)
c.6795C>G (p.Ser2265=)
c.6786C>G (p.Ser2262=)
c.6747C>G (p.Ser2249=)
c.6693C>G (p.Ser2231=)
c.6597C>G (p.Ser2199=)
c.6567C>G (p.Ser2189=)
c.6492C>G (p.Ser2164=)
c.6390C>G (p.Ser2130=)
c.6021C>G (p.Ser2007=)
dbSNP
5g.112842464C>TCA446210396APCc.6924C>T (p.Ser2308=)
c.*6876C>T (n.*6876C>T)
c.6816C>T (p.Ser2272=)
c.6870C>T (p.Ser2290=)
c.*6192C>T (n.*6192C>T)
c.230+13492C>T
c.6900C>T (p.Ser2300=)
c.6795C>T (p.Ser2265=)
c.6786C>T (p.Ser2262=)
c.6747C>T (p.Ser2249=)
c.6693C>T (p.Ser2231=)
c.6597C>T (p.Ser2199=)
c.6567C>T (p.Ser2189=)
c.6492C>T (p.Ser2164=)
c.6390C>T (p.Ser2130=)
c.6021C>T (p.Ser2007=)
dbSNP
5g.112842465C>ACA16036326APCc.6925C>A (p.Gln2309Lys)
c.*6877C>A (n.*6877C>A)
c.6817C>A (p.Gln2273Lys)
c.6871C>A (p.Gln2291Lys)
c.*6193C>A (n.*6193C>A)
c.230+13493C>A
c.6901C>A (p.Gln2301Lys)
c.6796C>A (p.Gln2266Lys)
c.6787C>A (p.Gln2263Lys)
c.6748C>A (p.Gln2250Lys)
c.6694C>A (p.Gln2232Lys)
c.6598C>A (p.Gln2200Lys)
c.6568C>A (p.Gln2190Lys)
c.6493C>A (p.Gln2165Lys)
c.6391C>A (p.Gln2131Lys)
c.6022C>A (p.Gln2008Lys)
dbSNP
5g.112842465C=CA1573485213APCc.6925C= (p.Gln2309=)
c.*6877C= (n.*6877C=)
c.6817C= (p.Gln2273=)
c.6871C= (p.Gln2291=)
c.*6193C= (n.*6193C=)
c.230+13493C=
c.6901C= (p.Gln2301=)
c.6796C= (p.Gln2266=)
c.6787C= (p.Gln2263=)
c.6748C= (p.Gln2250=)
c.6694C= (p.Gln2232=)
c.6598C= (p.Gln2200=)
c.6568C= (p.Gln2190=)
c.6493C= (p.Gln2165=)
c.6391C= (p.Gln2131=)
c.6022C= (p.Gln2008=)
5g.112842465C>GCA16036327APCc.6925C>G (p.Gln2309Glu)
c.*6877C>G (n.*6877C>G)
c.6817C>G (p.Gln2273Glu)
c.6871C>G (p.Gln2291Glu)
c.*6193C>G (n.*6193C>G)
c.230+13493C>G
c.6901C>G (p.Gln2301Glu)
c.6796C>G (p.Gln2266Glu)
c.6787C>G (p.Gln2263Glu)
c.6748C>G (p.Gln2250Glu)
c.6694C>G (p.Gln2232Glu)
c.6598C>G (p.Gln2200Glu)
c.6568C>G (p.Gln2190Glu)
c.6493C>G (p.Gln2165Glu)
c.6391C>G (p.Gln2131Glu)
c.6022C>G (p.Gln2008Glu)
ClinVar dbSNP
5g.112842465C>TCA16036328APCc.6925C>T (p.Gln2309Ter)
c.*6877C>T (n.*6877C>T)
c.6817C>T (p.Gln2273Ter)
c.6871C>T (p.Gln2291Ter)
c.*6193C>T (n.*6193C>T)
c.230+13493C>T
c.6901C>T (p.Gln2301Ter)
c.6796C>T (p.Gln2266Ter)
c.6787C>T (p.Gln2263Ter)
c.6748C>T (p.Gln2250Ter)
c.6694C>T (p.Gln2232Ter)
c.6598C>T (p.Gln2200Ter)
c.6568C>T (p.Gln2190Ter)
c.6493C>T (p.Gln2165Ter)
c.6391C>T (p.Gln2131Ter)
c.6022C>T (p.Gln2008Ter)
ClinVar dbSNP COSMIC
5g.112842466A=CA1573485221APCc.6926A= (p.Gln2309=)
c.*6878A= (n.*6878A=)
c.6818A= (p.Gln2273=)
c.6872A= (p.Gln2291=)
c.*6194A= (n.*6194A=)
c.230+13494A=
c.6902A= (p.Gln2301=)
c.6797A= (p.Gln2266=)
c.6788A= (p.Gln2263=)
c.6749A= (p.Gln2250=)
c.6695A= (p.Gln2232=)
c.6599A= (p.Gln2200=)
c.6569A= (p.Gln2190=)
c.6494A= (p.Gln2165=)
c.6392A= (p.Gln2131=)
c.6023A= (p.Gln2008=)
5g.112842466A>CCA16036329APCc.6926A>C (p.Gln2309Pro)
c.*6878A>C (n.*6878A>C)
c.6818A>C (p.Gln2273Pro)
c.6872A>C (p.Gln2291Pro)
c.*6194A>C (n.*6194A>C)
c.230+13494A>C
c.6902A>C (p.Gln2301Pro)
c.6797A>C (p.Gln2266Pro)
c.6788A>C (p.Gln2263Pro)
c.6749A>C (p.Gln2250Pro)
c.6695A>C (p.Gln2232Pro)
c.6599A>C (p.Gln2200Pro)
c.6569A>C (p.Gln2190Pro)
c.6494A>C (p.Gln2165Pro)
c.6392A>C (p.Gln2131Pro)
c.6023A>C (p.Gln2008Pro)
ClinVar dbSNP
5g.112842466A>GCA16036330APCc.6926A>G (p.Gln2309Arg)
c.*6878A>G (n.*6878A>G)
c.6818A>G (p.Gln2273Arg)
c.6872A>G (p.Gln2291Arg)
c.*6194A>G (n.*6194A>G)
c.230+13494A>G
c.6902A>G (p.Gln2301Arg)
c.6797A>G (p.Gln2266Arg)
c.6788A>G (p.Gln2263Arg)
c.6749A>G (p.Gln2250Arg)
c.6695A>G (p.Gln2232Arg)
c.6599A>G (p.Gln2200Arg)
c.6569A>G (p.Gln2190Arg)
c.6494A>G (p.Gln2165Arg)
c.6392A>G (p.Gln2131Arg)
c.6023A>G (p.Gln2008Arg)
ClinVar dbSNP gnomAD v4
5g.112842466A>TCA16036331APCc.6926A>T (p.Gln2309Leu)
c.*6878A>T (n.*6878A>T)
c.6818A>T (p.Gln2273Leu)
c.6872A>T (p.Gln2291Leu)
c.*6194A>T (n.*6194A>T)
c.230+13494A>T
c.6902A>T (p.Gln2301Leu)
c.6797A>T (p.Gln2266Leu)
c.6788A>T (p.Gln2263Leu)
c.6749A>T (p.Gln2250Leu)
c.6695A>T (p.Gln2232Leu)
c.6599A>T (p.Gln2200Leu)
c.6569A>T (p.Gln2190Leu)
c.6494A>T (p.Gln2165Leu)
c.6392A>T (p.Gln2131Leu)
c.6023A>T (p.Gln2008Leu)
dbSNP
5g.112842467A=CA1573485242APCc.6927A= (p.Gln2309=)
c.*6879A= (n.*6879A=)
c.6819A= (p.Gln2273=)
c.6873A= (p.Gln2291=)
c.*6195A= (n.*6195A=)
c.230+13495A=
c.6903A= (p.Gln2301=)
c.6798A= (p.Gln2266=)
c.6789A= (p.Gln2263=)
c.6750A= (p.Gln2250=)
c.6696A= (p.Gln2232=)
c.6600A= (p.Gln2200=)
c.6570A= (p.Gln2190=)
c.6495A= (p.Gln2165=)
c.6393A= (p.Gln2131=)
c.6024A= (p.Gln2008=)
5g.112842467A>CCA16036332APCc.6927A>C (p.Gln2309His)
c.*6879A>C (n.*6879A>C)
c.6819A>C (p.Gln2273His)
c.6873A>C (p.Gln2291His)
c.*6195A>C (n.*6195A>C)
c.230+13495A>C
c.6903A>C (p.Gln2301His)
c.6798A>C (p.Gln2266His)
c.6789A>C (p.Gln2263His)
c.6750A>C (p.Gln2250His)
c.6696A>C (p.Gln2232His)
c.6600A>C (p.Gln2200His)
c.6570A>C (p.Gln2190His)
c.6495A>C (p.Gln2165His)
c.6393A>C (p.Gln2131His)
c.6024A>C (p.Gln2008His)
dbSNP
5g.112842467A>GCA446210400APCc.6927A>G (p.Gln2309=)
c.*6879A>G (n.*6879A>G)
c.6819A>G (p.Gln2273=)
c.6873A>G (p.Gln2291=)
c.*6195A>G (n.*6195A>G)
c.230+13495A>G
c.6903A>G (p.Gln2301=)
c.6798A>G (p.Gln2266=)
c.6789A>G (p.Gln2263=)
c.6750A>G (p.Gln2250=)
c.6696A>G (p.Gln2232=)
c.6600A>G (p.Gln2200=)
c.6570A>G (p.Gln2190=)
c.6495A>G (p.Gln2165=)
c.6393A>G (p.Gln2131=)
c.6024A>G (p.Gln2008=)
ClinVar dbSNP gnomAD v4
5g.112842467A>TCA012603APCc.6927A>T (p.Gln2309His)
c.*6879A>T (n.*6879A>T)
c.6819A>T (p.Gln2273His)
c.6873A>T (p.Gln2291His)
c.*6195A>T (n.*6195A>T)
c.230+13495A>T
c.6903A>T (p.Gln2301His)
c.6798A>T (p.Gln2266His)
c.6789A>T (p.Gln2263His)
c.6750A>T (p.Gln2250His)
c.6696A>T (p.Gln2232His)
c.6600A>T (p.Gln2200His)
c.6570A>T (p.Gln2190His)
c.6495A>T (p.Gln2165His)
c.6393A>T (p.Gln2131His)
c.6024A>T (p.Gln2008His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842468A>CCA16036333APCc.6928A>C (p.Ile2310Leu)
c.*6880A>C (n.*6880A>C)
c.6820A>C (p.Ile2274Leu)
c.6874A>C (p.Ile2292Leu)
c.*6196A>C (n.*6196A>C)
c.230+13496A>C
c.6904A>C (p.Ile2302Leu)
c.6799A>C (p.Ile2267Leu)
c.6790A>C (p.Ile2264Leu)
c.6751A>C (p.Ile2251Leu)
c.6697A>C (p.Ile2233Leu)
c.6601A>C (p.Ile2201Leu)
c.6571A>C (p.Ile2191Leu)
c.6496A>C (p.Ile2166Leu)
c.6394A>C (p.Ile2132Leu)
c.6025A>C (p.Ile2009Leu)
dbSNP
5g.112842468A>GCA16036334APCc.6928A>G (p.Ile2310Val)
c.*6880A>G (n.*6880A>G)
c.6820A>G (p.Ile2274Val)
c.6874A>G (p.Ile2292Val)
c.*6196A>G (n.*6196A>G)
c.230+13496A>G
c.6904A>G (p.Ile2302Val)
c.6799A>G (p.Ile2267Val)
c.6790A>G (p.Ile2264Val)
c.6751A>G (p.Ile2251Val)
c.6697A>G (p.Ile2233Val)
c.6601A>G (p.Ile2201Val)
c.6571A>G (p.Ile2191Val)
c.6496A>G (p.Ile2166Val)
c.6394A>G (p.Ile2132Val)
c.6025A>G (p.Ile2009Val)
dbSNP
5g.112842468A>TCA16036335APCc.6928A>T (p.Ile2310Leu)
c.*6880A>T (n.*6880A>T)
c.6820A>T (p.Ile2274Leu)
c.6874A>T (p.Ile2292Leu)
c.*6196A>T (n.*6196A>T)
c.230+13496A>T
c.6904A>T (p.Ile2302Leu)
c.6799A>T (p.Ile2267Leu)
c.6790A>T (p.Ile2264Leu)
c.6751A>T (p.Ile2251Leu)
c.6697A>T (p.Ile2233Leu)
c.6601A>T (p.Ile2201Leu)
c.6571A>T (p.Ile2191Leu)
c.6496A>T (p.Ile2166Leu)
c.6394A>T (p.Ile2132Leu)
c.6025A>T (p.Ile2009Leu)
dbSNP
5g.112842469T>ACA16036336APCc.6929T>A (p.Ile2310Lys)
c.*6881T>A (n.*6881T>A)
c.6821T>A (p.Ile2274Lys)
c.6875T>A (p.Ile2292Lys)
c.*6197T>A (n.*6197T>A)
c.230+13497T>A
c.6905T>A (p.Ile2302Lys)
c.6800T>A (p.Ile2267Lys)
c.6791T>A (p.Ile2264Lys)
c.6752T>A (p.Ile2251Lys)
c.6698T>A (p.Ile2233Lys)
c.6602T>A (p.Ile2201Lys)
c.6572T>A (p.Ile2191Lys)
c.6497T>A (p.Ile2166Lys)
c.6395T>A (p.Ile2132Lys)
c.6026T>A (p.Ile2009Lys)
dbSNP
5g.112842469T>CCA046347APCc.6929T>C (p.Ile2310Thr)
c.*6881T>C (n.*6881T>C)
c.6821T>C (p.Ile2274Thr)
c.6875T>C (p.Ile2292Thr)
c.*6197T>C (n.*6197T>C)
c.230+13497T>C
c.6905T>C (p.Ile2302Thr)
c.6800T>C (p.Ile2267Thr)
c.6791T>C (p.Ile2264Thr)
c.6752T>C (p.Ile2251Thr)
c.6698T>C (p.Ile2233Thr)
c.6602T>C (p.Ile2201Thr)
c.6572T>C (p.Ile2191Thr)
c.6497T>C (p.Ile2166Thr)
c.6395T>C (p.Ile2132Thr)
c.6026T>C (p.Ile2009Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842469T>GCA16036337APCc.6929T>G (p.Ile2310Arg)
c.*6881T>G (n.*6881T>G)
c.6821T>G (p.Ile2274Arg)
c.6875T>G (p.Ile2292Arg)
c.*6197T>G (n.*6197T>G)
c.230+13497T>G
c.6905T>G (p.Ile2302Arg)
c.6800T>G (p.Ile2267Arg)
c.6791T>G (p.Ile2264Arg)
c.6752T>G (p.Ile2251Arg)
c.6698T>G (p.Ile2233Arg)
c.6602T>G (p.Ile2201Arg)
c.6572T>G (p.Ile2191Arg)
c.6497T>G (p.Ile2166Arg)
c.6395T>G (p.Ile2132Arg)
c.6026T>G (p.Ile2009Arg)
ClinVar dbSNP
5g.112842469T=CA1573485251APCc.6929T= (p.Ile2310=)
c.*6881T= (n.*6881T=)
c.6821T= (p.Ile2274=)
c.6875T= (p.Ile2292=)
c.*6197T= (n.*6197T=)
c.230+13497T=
c.6905T= (p.Ile2302=)
c.6800T= (p.Ile2267=)
c.6791T= (p.Ile2264=)
c.6752T= (p.Ile2251=)
c.6698T= (p.Ile2233=)
c.6602T= (p.Ile2201=)
c.6572T= (p.Ile2191=)
c.6497T= (p.Ile2166=)
c.6395T= (p.Ile2132=)
c.6026T= (p.Ile2009=)
5g.112842469_112842471delCA2534467558APCc.6929_6931del (p.Ile2310_Gly2311delinsSer)
c.*6881_*6883del (n.*6881_*6883del)
c.6821_6823del (p.Ile2274_Gly2275delinsSer)
c.6875_6877del (p.Ile2292_Gly2293delinsSer)
c.*6197_*6199del (n.*6197_*6199del)
c.230+13497_230+13499del
c.6905_6907del (p.Ile2302_Gly2303delinsSer)
c.6800_6802del (p.Ile2267_Gly2268delinsSer)
c.6791_6793del (p.Ile2264_Gly2265delinsSer)
c.6752_6754del (p.Ile2251_Gly2252delinsSer)
c.6698_6700del (p.Ile2233_Gly2234delinsSer)
c.6602_6604del (p.Ile2201_Gly2202delinsSer)
c.6572_6574del (p.Ile2191_Gly2192delinsSer)
c.6497_6499del (p.Ile2166_Gly2167delinsSer)
c.6395_6397del (p.Ile2132_Gly2133delinsSer)
c.6026_6028del (p.Ile2009_Gly2010delinsSer)
5g.112842470A>CCA446210407APCc.6930A>C (p.Ile2310=)
c.*6882A>C (n.*6882A>C)
c.6822A>C (p.Ile2274=)
c.6876A>C (p.Ile2292=)
c.*6198A>C (n.*6198A>C)
c.230+13498A>C
c.6906A>C (p.Ile2302=)
c.6801A>C (p.Ile2267=)
c.6792A>C (p.Ile2264=)
c.6753A>C (p.Ile2251=)
c.6699A>C (p.Ile2233=)
c.6603A>C (p.Ile2201=)
c.6573A>C (p.Ile2191=)
c.6498A>C (p.Ile2166=)
c.6396A>C (p.Ile2132=)
c.6027A>C (p.Ile2009=)
ClinVar dbSNP
5g.112842470A>GCA16036338APCc.6930A>G (p.Ile2310Met)
c.*6882A>G (n.*6882A>G)
c.6822A>G (p.Ile2274Met)
c.6876A>G (p.Ile2292Met)
c.*6198A>G (n.*6198A>G)
c.230+13498A>G
c.6906A>G (p.Ile2302Met)
c.6801A>G (p.Ile2267Met)
c.6792A>G (p.Ile2264Met)
c.6753A>G (p.Ile2251Met)
c.6699A>G (p.Ile2233Met)
c.6603A>G (p.Ile2201Met)
c.6573A>G (p.Ile2191Met)
c.6498A>G (p.Ile2166Met)
c.6396A>G (p.Ile2132Met)
c.6027A>G (p.Ile2009Met)
dbSNP
5g.112842470A>TCA446210403APCc.6930A>T (p.Ile2310=)
c.*6882A>T (n.*6882A>T)
c.6822A>T (p.Ile2274=)
c.6876A>T (p.Ile2292=)
c.*6198A>T (n.*6198A>T)
c.230+13498A>T
c.6906A>T (p.Ile2302=)
c.6801A>T (p.Ile2267=)
c.6792A>T (p.Ile2264=)
c.6753A>T (p.Ile2251=)
c.6699A>T (p.Ile2233=)
c.6603A>T (p.Ile2201=)
c.6573A>T (p.Ile2191=)
c.6498A>T (p.Ile2166=)
c.6396A>T (p.Ile2132=)
c.6027A>T (p.Ile2009=)
dbSNP
5g.112842471G>ACA16036339APCc.6931G>A (p.Gly2311Ser)
c.*6883G>A (n.*6883G>A)
c.6823G>A (p.Gly2275Ser)
c.6877G>A (p.Gly2293Ser)
c.*6199G>A (n.*6199G>A)
c.230+13499G>A
c.6907G>A (p.Gly2303Ser)
c.6802G>A (p.Gly2268Ser)
c.6793G>A (p.Gly2265Ser)
c.6754G>A (p.Gly2252Ser)
c.6700G>A (p.Gly2234Ser)
c.6604G>A (p.Gly2202Ser)
c.6574G>A (p.Gly2192Ser)
c.6499G>A (p.Gly2167Ser)
c.6397G>A (p.Gly2133Ser)
c.6028G>A (p.Gly2010Ser)
dbSNP
5g.112842471G>CCA10578438APCc.6931G>C (p.Gly2311Arg)
c.*6883G>C (n.*6883G>C)
c.6823G>C (p.Gly2275Arg)
c.6877G>C (p.Gly2293Arg)
c.*6199G>C (n.*6199G>C)
c.230+13499G>C
c.6907G>C (p.Gly2303Arg)
c.6802G>C (p.Gly2268Arg)
c.6793G>C (p.Gly2265Arg)
c.6754G>C (p.Gly2252Arg)
c.6700G>C (p.Gly2234Arg)
c.6604G>C (p.Gly2202Arg)
c.6574G>C (p.Gly2192Arg)
c.6499G>C (p.Gly2167Arg)
c.6397G>C (p.Gly2133Arg)
c.6028G>C (p.Gly2010Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842471G=CA1573485257APCc.6931G= (p.Gly2311=)
c.*6883G= (n.*6883G=)
c.6823G= (p.Gly2275=)
c.6877G= (p.Gly2293=)
c.*6199G= (n.*6199G=)
c.230+13499G=
c.6907G= (p.Gly2303=)
c.6802G= (p.Gly2268=)
c.6793G= (p.Gly2265=)
c.6754G= (p.Gly2252=)
c.6700G= (p.Gly2234=)
c.6604G= (p.Gly2202=)
c.6574G= (p.Gly2192=)
c.6499G= (p.Gly2167=)
c.6397G= (p.Gly2133=)
c.6028G= (p.Gly2010=)
5g.112842471G>TCA16036340APCc.6931G>T (p.Gly2311Cys)
c.*6883G>T (n.*6883G>T)
c.6823G>T (p.Gly2275Cys)
c.6877G>T (p.Gly2293Cys)
c.*6199G>T (n.*6199G>T)
c.230+13499G>T
c.6907G>T (p.Gly2303Cys)
c.6802G>T (p.Gly2268Cys)
c.6793G>T (p.Gly2265Cys)
c.6754G>T (p.Gly2252Cys)
c.6700G>T (p.Gly2234Cys)
c.6604G>T (p.Gly2202Cys)
c.6574G>T (p.Gly2192Cys)
c.6499G>T (p.Gly2167Cys)
c.6397G>T (p.Gly2133Cys)
c.6028G>T (p.Gly2010Cys)
ClinVar dbSNP COSMIC
5g.112842472delCA2580072362APCc.6932del (p.Gly2311ValfsTer25)
c.*6884del (n.*6884del)
c.6824del (p.Gly2275ValfsTer25)
c.6878del (p.Gly2293ValfsTer25)
c.*6200del (n.*6200del)
c.230+13500del
c.6908del (p.Gly2303ValfsTer25)
c.6803del (p.Gly2268ValfsTer25)
c.6794del (p.Gly2265ValfsTer25)
c.6755del (p.Gly2252ValfsTer25)
c.6701del (p.Gly2234ValfsTer25)
c.6605del (p.Gly2202ValfsTer25)
c.6575del (p.Gly2192ValfsTer25)
c.6500del (p.Gly2167ValfsTer25)
c.6398del (p.Gly2133ValfsTer25)
c.6029del (p.Gly2010ValfsTer25)
ClinVar
5g.112842472G>ACA16036341APCc.6932G>A (p.Gly2311Asp)
c.*6884G>A (n.*6884G>A)
c.6824G>A (p.Gly2275Asp)
c.6878G>A (p.Gly2293Asp)
c.*6200G>A (n.*6200G>A)
c.230+13500G>A
c.6908G>A (p.Gly2303Asp)
c.6803G>A (p.Gly2268Asp)
c.6794G>A (p.Gly2265Asp)
c.6755G>A (p.Gly2252Asp)
c.6701G>A (p.Gly2234Asp)
c.6605G>A (p.Gly2202Asp)
c.6575G>A (p.Gly2192Asp)
c.6500G>A (p.Gly2167Asp)
c.6398G>A (p.Gly2133Asp)
c.6029G>A (p.Gly2010Asp)
ClinVar dbSNP
5g.112842472G>CCA16036342APCc.6932G>C (p.Gly2311Ala)
c.*6884G>C (n.*6884G>C)
c.6824G>C (p.Gly2275Ala)
c.6878G>C (p.Gly2293Ala)
c.*6200G>C (n.*6200G>C)
c.230+13500G>C
c.6908G>C (p.Gly2303Ala)
c.6803G>C (p.Gly2268Ala)
c.6794G>C (p.Gly2265Ala)
c.6755G>C (p.Gly2252Ala)
c.6701G>C (p.Gly2234Ala)
c.6605G>C (p.Gly2202Ala)
c.6575G>C (p.Gly2192Ala)
c.6500G>C (p.Gly2167Ala)
c.6398G>C (p.Gly2133Ala)
c.6029G>C (p.Gly2010Ala)
ClinVar dbSNP
5g.112842472G=CA1573485261APCc.6932G= (p.Gly2311=)
c.*6884G= (n.*6884G=)
c.6824G= (p.Gly2275=)
c.6878G= (p.Gly2293=)
c.*6200G= (n.*6200G=)
c.230+13500G=
c.6908G= (p.Gly2303=)
c.6803G= (p.Gly2268=)
c.6794G= (p.Gly2265=)
c.6755G= (p.Gly2252=)
c.6701G= (p.Gly2234=)
c.6605G= (p.Gly2202=)
c.6575G= (p.Gly2192=)
c.6500G= (p.Gly2167=)
c.6398G= (p.Gly2133=)
c.6029G= (p.Gly2010=)
5g.112842472G>TCA16036343APCc.6932G>T (p.Gly2311Val)
c.*6884G>T (n.*6884G>T)
c.6824G>T (p.Gly2275Val)
c.6878G>T (p.Gly2293Val)
c.*6200G>T (n.*6200G>T)
c.230+13500G>T
c.6908G>T (p.Gly2303Val)
c.6803G>T (p.Gly2268Val)
c.6794G>T (p.Gly2265Val)
c.6755G>T (p.Gly2252Val)
c.6701G>T (p.Gly2234Val)
c.6605G>T (p.Gly2202Val)
c.6575G>T (p.Gly2192Val)
c.6500G>T (p.Gly2167Val)
c.6398G>T (p.Gly2133Val)
c.6029G>T (p.Gly2010Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842473T>ACA446210409APCc.6933T>A (p.Gly2311=)
c.*6885T>A (n.*6885T>A)
c.6825T>A (p.Gly2275=)
c.6879T>A (p.Gly2293=)
c.*6201T>A (n.*6201T>A)
c.230+13501T>A
c.6909T>A (p.Gly2303=)
c.6804T>A (p.Gly2268=)
c.6795T>A (p.Gly2265=)
c.6756T>A (p.Gly2252=)
c.6702T>A (p.Gly2234=)
c.6606T>A (p.Gly2202=)
c.6576T>A (p.Gly2192=)
c.6501T>A (p.Gly2167=)
c.6399T>A (p.Gly2133=)
c.6030T>A (p.Gly2010=)
5g.112842473T>CCA446210410APCc.6933T>C (p.Gly2311=)
c.*6885T>C (n.*6885T>C)
c.6825T>C (p.Gly2275=)
c.6879T>C (p.Gly2293=)
c.*6201T>C (n.*6201T>C)
c.230+13501T>C
c.6909T>C (p.Gly2303=)
c.6804T>C (p.Gly2268=)
c.6795T>C (p.Gly2265=)
c.6756T>C (p.Gly2252=)
c.6702T>C (p.Gly2234=)
c.6606T>C (p.Gly2202=)
c.6576T>C (p.Gly2192=)
c.6501T>C (p.Gly2167=)
c.6399T>C (p.Gly2133=)
c.6030T>C (p.Gly2010=)
ClinVar
5g.112842473T>GCA446210411APCc.6933T>G (p.Gly2311=)
c.*6885T>G (n.*6885T>G)
c.6825T>G (p.Gly2275=)
c.6879T>G (p.Gly2293=)
c.*6201T>G (n.*6201T>G)
c.230+13501T>G
c.6909T>G (p.Gly2303=)
c.6804T>G (p.Gly2268=)
c.6795T>G (p.Gly2265=)
c.6756T>G (p.Gly2252=)
c.6702T>G (p.Gly2234=)
c.6606T>G (p.Gly2202=)
c.6576T>G (p.Gly2192=)
c.6501T>G (p.Gly2167=)
c.6399T>G (p.Gly2133=)
c.6030T>G (p.Gly2010=)
5g.112842474G>ACA16036344APCc.6934G>A (p.Gly2312Arg)
c.*6886G>A (n.*6886G>A)
c.6826G>A (p.Gly2276Arg)
c.6880G>A (p.Gly2294Arg)
c.*6202G>A (n.*6202G>A)
c.230+13502G>A
c.6910G>A (p.Gly2304Arg)
c.6805G>A (p.Gly2269Arg)
c.6796G>A (p.Gly2266Arg)
c.6757G>A (p.Gly2253Arg)
c.6703G>A (p.Gly2235Arg)
c.6607G>A (p.Gly2203Arg)
c.6577G>A (p.Gly2193Arg)
c.6502G>A (p.Gly2168Arg)
c.6400G>A (p.Gly2134Arg)
c.6031G>A (p.Gly2011Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112842474G>CCA16036345APCc.6934G>C (p.Gly2312Arg)
c.*6886G>C (n.*6886G>C)
c.6826G>C (p.Gly2276Arg)
c.6880G>C (p.Gly2294Arg)
c.*6202G>C (n.*6202G>C)
c.230+13502G>C
c.6910G>C (p.Gly2304Arg)
c.6805G>C (p.Gly2269Arg)
c.6796G>C (p.Gly2266Arg)
c.6757G>C (p.Gly2253Arg)
c.6703G>C (p.Gly2235Arg)
c.6607G>C (p.Gly2203Arg)
c.6577G>C (p.Gly2193Arg)
c.6502G>C (p.Gly2168Arg)
c.6400G>C (p.Gly2134Arg)
c.6031G>C (p.Gly2011Arg)
ClinVar dbSNP
5g.112842474G=CA1573485278APCc.6934G= (p.Gly2312=)
c.*6886G= (n.*6886G=)
c.6826G= (p.Gly2276=)
c.6880G= (p.Gly2294=)
c.*6202G= (n.*6202G=)
c.230+13502G=
c.6910G= (p.Gly2304=)
c.6805G= (p.Gly2269=)
c.6796G= (p.Gly2266=)
c.6757G= (p.Gly2253=)
c.6703G= (p.Gly2235=)
c.6607G= (p.Gly2203=)
c.6577G= (p.Gly2193=)
c.6502G= (p.Gly2168=)
c.6400G= (p.Gly2134=)
c.6031G= (p.Gly2011=)
5g.112842474G>TCA16036346APCc.6934G>T (p.Gly2312Trp)
c.*6886G>T (n.*6886G>T)
c.6826G>T (p.Gly2276Trp)
c.6880G>T (p.Gly2294Trp)
c.*6202G>T (n.*6202G>T)
c.230+13502G>T
c.6910G>T (p.Gly2304Trp)
c.6805G>T (p.Gly2269Trp)
c.6796G>T (p.Gly2266Trp)
c.6757G>T (p.Gly2253Trp)
c.6703G>T (p.Gly2235Trp)
c.6607G>T (p.Gly2203Trp)
c.6577G>T (p.Gly2193Trp)
c.6502G>T (p.Gly2168Trp)
c.6400G>T (p.Gly2134Trp)
c.6031G>T (p.Gly2011Trp)
5g.112842475G>ACA16036347APCc.6935G>A (p.Gly2312Glu)
c.*6887G>A (n.*6887G>A)
c.6827G>A (p.Gly2276Glu)
c.6881G>A (p.Gly2294Glu)
c.*6203G>A (n.*6203G>A)
c.230+13503G>A
c.6911G>A (p.Gly2304Glu)
c.6806G>A (p.Gly2269Glu)
c.6797G>A (p.Gly2266Glu)
c.6758G>A (p.Gly2253Glu)
c.6704G>A (p.Gly2235Glu)
c.6608G>A (p.Gly2203Glu)
c.6578G>A (p.Gly2193Glu)
c.6503G>A (p.Gly2168Glu)
c.6401G>A (p.Gly2134Glu)
c.6032G>A (p.Gly2011Glu)
ClinVar dbSNP
5g.112842475G>CCA16036348APCc.6935G>C (p.Gly2312Ala)
c.*6887G>C (n.*6887G>C)
c.6827G>C (p.Gly2276Ala)
c.6881G>C (p.Gly2294Ala)
c.*6203G>C (n.*6203G>C)
c.230+13503G>C
c.6911G>C (p.Gly2304Ala)
c.6806G>C (p.Gly2269Ala)
c.6797G>C (p.Gly2266Ala)
c.6758G>C (p.Gly2253Ala)
c.6704G>C (p.Gly2235Ala)
c.6608G>C (p.Gly2203Ala)
c.6578G>C (p.Gly2193Ala)
c.6503G>C (p.Gly2168Ala)
c.6401G>C (p.Gly2134Ala)
c.6032G>C (p.Gly2011Ala)
ClinVar dbSNP
5g.112842475G=CA1573485284APCc.6935G= (p.Gly2312=)
c.*6887G= (n.*6887G=)
c.6827G= (p.Gly2276=)
c.6881G= (p.Gly2294=)
c.*6203G= (n.*6203G=)
c.230+13503G=
c.6911G= (p.Gly2304=)
c.6806G= (p.Gly2269=)
c.6797G= (p.Gly2266=)
c.6758G= (p.Gly2253=)
c.6704G= (p.Gly2235=)
c.6608G= (p.Gly2203=)
c.6578G= (p.Gly2193=)
c.6503G= (p.Gly2168=)
c.6401G= (p.Gly2134=)
c.6032G= (p.Gly2011=)
5g.112842475G>TCA16036349APCc.6935G>T (p.Gly2312Val)
c.*6887G>T (n.*6887G>T)
c.6827G>T (p.Gly2276Val)
c.6881G>T (p.Gly2294Val)
c.*6203G>T (n.*6203G>T)
c.230+13503G>T
c.6911G>T (p.Gly2304Val)
c.6806G>T (p.Gly2269Val)
c.6797G>T (p.Gly2266Val)
c.6758G>T (p.Gly2253Val)
c.6704G>T (p.Gly2235Val)
c.6608G>T (p.Gly2203Val)
c.6578G>T (p.Gly2193Val)
c.6503G>T (p.Gly2168Val)
c.6401G>T (p.Gly2134Val)
c.6032G>T (p.Gly2011Val)
ClinVar dbSNP
5g.112842476G>ACA446210415APCc.6936G>A (p.Gly2312=)
c.*6888G>A (n.*6888G>A)
c.6828G>A (p.Gly2276=)
c.6882G>A (p.Gly2294=)
c.*6204G>A (n.*6204G>A)
c.230+13504G>A
c.6912G>A (p.Gly2304=)
c.6807G>A (p.Gly2269=)
c.6798G>A (p.Gly2266=)
c.6759G>A (p.Gly2253=)
c.6705G>A (p.Gly2235=)
c.6609G>A (p.Gly2203=)
c.6579G>A (p.Gly2193=)
c.6504G>A (p.Gly2168=)
c.6402G>A (p.Gly2134=)
c.6033G>A (p.Gly2011=)
dbSNP
5g.112842476G>CCA446210416APCc.6936G>C (p.Gly2312=)
c.*6888G>C (n.*6888G>C)
c.6828G>C (p.Gly2276=)
c.6882G>C (p.Gly2294=)
c.*6204G>C (n.*6204G>C)
c.230+13504G>C
c.6912G>C (p.Gly2304=)
c.6807G>C (p.Gly2269=)
c.6798G>C (p.Gly2266=)
c.6759G>C (p.Gly2253=)
c.6705G>C (p.Gly2235=)
c.6609G>C (p.Gly2203=)
c.6579G>C (p.Gly2193=)
c.6504G>C (p.Gly2168=)
c.6402G>C (p.Gly2134=)
c.6033G>C (p.Gly2011=)
ClinVar dbSNP
5g.112842476G>TCA446210417APCc.6936G>T (p.Gly2312=)
c.*6888G>T (n.*6888G>T)
c.6828G>T (p.Gly2276=)
c.6882G>T (p.Gly2294=)
c.*6204G>T (n.*6204G>T)
c.230+13504G>T
c.6912G>T (p.Gly2304=)
c.6807G>T (p.Gly2269=)
c.6798G>T (p.Gly2266=)
c.6759G>T (p.Gly2253=)
c.6705G>T (p.Gly2235=)
c.6609G>T (p.Gly2203=)
c.6579G>T (p.Gly2193=)
c.6504G>T (p.Gly2168=)
c.6402G>T (p.Gly2134=)
c.6033G>T (p.Gly2011=)
dbSNP
5g.112842477T>ACA16036350APCc.6937T>A (p.Ser2313Thr)
c.*6889T>A (n.*6889T>A)
c.6829T>A (p.Ser2277Thr)
c.6883T>A (p.Ser2295Thr)
c.*6205T>A (n.*6205T>A)
c.230+13505T>A
c.6913T>A (p.Ser2305Thr)
c.6808T>A (p.Ser2270Thr)
c.6799T>A (p.Ser2267Thr)
c.6760T>A (p.Ser2254Thr)
c.6706T>A (p.Ser2236Thr)
c.6610T>A (p.Ser2204Thr)
c.6580T>A (p.Ser2194Thr)
c.6505T>A (p.Ser2169Thr)
c.6403T>A (p.Ser2135Thr)
c.6034T>A (p.Ser2012Thr)
dbSNP
5g.112842477T>CCA16036351APCc.6937T>C (p.Ser2313Pro)
c.*6889T>C (n.*6889T>C)
c.6829T>C (p.Ser2277Pro)
c.6883T>C (p.Ser2295Pro)
c.*6205T>C (n.*6205T>C)
c.230+13505T>C
c.6913T>C (p.Ser2305Pro)
c.6808T>C (p.Ser2270Pro)
c.6799T>C (p.Ser2267Pro)
c.6760T>C (p.Ser2254Pro)
c.6706T>C (p.Ser2236Pro)
c.6610T>C (p.Ser2204Pro)
c.6580T>C (p.Ser2194Pro)
c.6505T>C (p.Ser2169Pro)
c.6403T>C (p.Ser2135Pro)
c.6034T>C (p.Ser2012Pro)
ClinVar dbSNP
5g.112842477T>GCA16036352APCc.6937T>G (p.Ser2313Ala)
c.*6889T>G (n.*6889T>G)
c.6829T>G (p.Ser2277Ala)
c.6883T>G (p.Ser2295Ala)
c.*6205T>G (n.*6205T>G)
c.230+13505T>G
c.6913T>G (p.Ser2305Ala)
c.6808T>G (p.Ser2270Ala)
c.6799T>G (p.Ser2267Ala)
c.6760T>G (p.Ser2254Ala)
c.6706T>G (p.Ser2236Ala)
c.6610T>G (p.Ser2204Ala)
c.6580T>G (p.Ser2194Ala)
c.6505T>G (p.Ser2169Ala)
c.6403T>G (p.Ser2135Ala)
c.6034T>G (p.Ser2012Ala)
ClinVar dbSNP
5g.112842477T=CA1573485302APCc.6937T= (p.Ser2313=)
c.*6889T= (n.*6889T=)
c.6829T= (p.Ser2277=)
c.6883T= (p.Ser2295=)
c.*6205T= (n.*6205T=)
c.230+13505T=
c.6913T= (p.Ser2305=)
c.6808T= (p.Ser2270=)
c.6799T= (p.Ser2267=)
c.6760T= (p.Ser2254=)
c.6706T= (p.Ser2236=)
c.6610T= (p.Ser2204=)
c.6580T= (p.Ser2194=)
c.6505T= (p.Ser2169=)
c.6403T= (p.Ser2135=)
c.6034T= (p.Ser2012=)
5g.112842478C>ACA16036353APCc.6938C>A (p.Ser2313Ter)
c.*6890C>A (n.*6890C>A)
c.6830C>A (p.Ser2277Ter)
c.6884C>A (p.Ser2295Ter)
c.*6206C>A (n.*6206C>A)
c.230+13506C>A
c.6914C>A (p.Ser2305Ter)
c.6809C>A (p.Ser2270Ter)
c.6800C>A (p.Ser2267Ter)
c.6761C>A (p.Ser2254Ter)
c.6707C>A (p.Ser2236Ter)
c.6611C>A (p.Ser2204Ter)
c.6581C>A (p.Ser2194Ter)
c.6506C>A (p.Ser2169Ter)
c.6404C>A (p.Ser2135Ter)
c.6035C>A (p.Ser2012Ter)
dbSNP gnomAD v4
5g.112842478C>GCA16036354APCc.6938C>G (p.Ser2313Ter)
c.*6890C>G (n.*6890C>G)
c.6830C>G (p.Ser2277Ter)
c.6884C>G (p.Ser2295Ter)
c.*6206C>G (n.*6206C>G)
c.230+13506C>G
c.6914C>G (p.Ser2305Ter)
c.6809C>G (p.Ser2270Ter)
c.6800C>G (p.Ser2267Ter)
c.6761C>G (p.Ser2254Ter)
c.6707C>G (p.Ser2236Ter)
c.6611C>G (p.Ser2204Ter)
c.6581C>G (p.Ser2194Ter)
c.6506C>G (p.Ser2169Ter)
c.6404C>G (p.Ser2135Ter)
c.6035C>G (p.Ser2012Ter)
gnomAD v4
5g.112842478C>TCA16036355APCc.6938C>T (p.Ser2313Leu)
c.*6890C>T (n.*6890C>T)
c.6830C>T (p.Ser2277Leu)
c.6884C>T (p.Ser2295Leu)
c.*6206C>T (n.*6206C>T)
c.230+13506C>T
c.6914C>T (p.Ser2305Leu)
c.6809C>T (p.Ser2270Leu)
c.6800C>T (p.Ser2267Leu)
c.6761C>T (p.Ser2254Leu)
c.6707C>T (p.Ser2236Leu)
c.6611C>T (p.Ser2204Leu)
c.6581C>T (p.Ser2194Leu)
c.6506C>T (p.Ser2169Leu)
c.6404C>T (p.Ser2135Leu)
c.6035C>T (p.Ser2012Leu)
ClinVar dbSNP gnomAD v4
5g.112842479A=CA1573485318APCc.6939A= (p.Ser2313=)
c.*6891A= (n.*6891A=)
c.6831A= (p.Ser2277=)
c.6885A= (p.Ser2295=)
c.*6207A= (n.*6207A=)
c.230+13507A=
c.6915A= (p.Ser2305=)
c.6810A= (p.Ser2270=)
c.6801A= (p.Ser2267=)
c.6762A= (p.Ser2254=)
c.6708A= (p.Ser2236=)
c.6612A= (p.Ser2204=)
c.6582A= (p.Ser2194=)
c.6507A= (p.Ser2169=)
c.6405A= (p.Ser2135=)
c.6036A= (p.Ser2012=)
5g.112842479A>CCA446210419APCc.6939A>C (p.Ser2313=)
c.*6891A>C (n.*6891A>C)
c.6831A>C (p.Ser2277=)
c.6885A>C (p.Ser2295=)
c.*6207A>C (n.*6207A>C)
c.230+13507A>C
c.6915A>C (p.Ser2305=)
c.6810A>C (p.Ser2270=)
c.6801A>C (p.Ser2267=)
c.6762A>C (p.Ser2254=)
c.6708A>C (p.Ser2236=)
c.6612A>C (p.Ser2204=)
c.6582A>C (p.Ser2194=)
c.6507A>C (p.Ser2169=)
c.6405A>C (p.Ser2135=)
c.6036A>C (p.Ser2012=)
5g.112842479A>GCA046358APCc.6939A>G (p.Ser2313=)
c.*6891A>G (n.*6891A>G)
c.6831A>G (p.Ser2277=)
c.6885A>G (p.Ser2295=)
c.*6207A>G (n.*6207A>G)
c.230+13507A>G
c.6915A>G (p.Ser2305=)
c.6810A>G (p.Ser2270=)
c.6801A>G (p.Ser2267=)
c.6762A>G (p.Ser2254=)
c.6708A>G (p.Ser2236=)
c.6612A>G (p.Ser2204=)
c.6582A>G (p.Ser2194=)
c.6507A>G (p.Ser2169=)
c.6405A>G (p.Ser2135=)
c.6036A>G (p.Ser2012=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842479A>TCA446210420APCc.6939A>T (p.Ser2313=)
c.*6891A>T (n.*6891A>T)
c.6831A>T (p.Ser2277=)
c.6885A>T (p.Ser2295=)
c.*6207A>T (n.*6207A>T)
c.230+13507A>T
c.6915A>T (p.Ser2305=)
c.6810A>T (p.Ser2270=)
c.6801A>T (p.Ser2267=)
c.6762A>T (p.Ser2254=)
c.6708A>T (p.Ser2236=)
c.6612A>T (p.Ser2204=)
c.6582A>T (p.Ser2194=)
c.6507A>T (p.Ser2169=)
c.6405A>T (p.Ser2135=)
c.6036A>T (p.Ser2012=)
dbSNP
5g.112842480A=CA1573485341APCc.6940A= (p.Ser2314=)
c.*6892A= (n.*6892A=)
c.6832A= (p.Ser2278=)
c.6886A= (p.Ser2296=)
c.*6208A= (n.*6208A=)
c.230+13508A=
c.6916A= (p.Ser2306=)
c.6811A= (p.Ser2271=)
c.6802A= (p.Ser2268=)
c.6763A= (p.Ser2255=)
c.6709A= (p.Ser2237=)
c.6613A= (p.Ser2205=)
c.6583A= (p.Ser2195=)
c.6508A= (p.Ser2170=)
c.6406A= (p.Ser2136=)
c.6037A= (p.Ser2013=)
5g.112842480A>CCA16036356APCc.6940A>C (p.Ser2314Arg)
c.*6892A>C (n.*6892A>C)
c.6832A>C (p.Ser2278Arg)
c.6886A>C (p.Ser2296Arg)
c.*6208A>C (n.*6208A>C)
c.230+13508A>C
c.6916A>C (p.Ser2306Arg)
c.6811A>C (p.Ser2271Arg)
c.6802A>C (p.Ser2268Arg)
c.6763A>C (p.Ser2255Arg)
c.6709A>C (p.Ser2237Arg)
c.6613A>C (p.Ser2205Arg)
c.6583A>C (p.Ser2195Arg)
c.6508A>C (p.Ser2170Arg)
c.6406A>C (p.Ser2136Arg)
c.6037A>C (p.Ser2013Arg)
dbSNP
5g.112842480A>GCA046373APCc.6940A>G (p.Ser2314Gly)
c.*6892A>G (n.*6892A>G)
c.6832A>G (p.Ser2278Gly)
c.6886A>G (p.Ser2296Gly)
c.*6208A>G (n.*6208A>G)
c.230+13508A>G
c.6916A>G (p.Ser2306Gly)
c.6811A>G (p.Ser2271Gly)
c.6802A>G (p.Ser2268Gly)
c.6763A>G (p.Ser2255Gly)
c.6709A>G (p.Ser2237Gly)
c.6613A>G (p.Ser2205Gly)
c.6583A>G (p.Ser2195Gly)
c.6508A>G (p.Ser2170Gly)
c.6406A>G (p.Ser2136Gly)
c.6037A>G (p.Ser2013Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842480A>TCA16036357APCc.6940A>T (p.Ser2314Cys)
c.*6892A>T (n.*6892A>T)
c.6832A>T (p.Ser2278Cys)
c.6886A>T (p.Ser2296Cys)
c.*6208A>T (n.*6208A>T)
c.230+13508A>T
c.6916A>T (p.Ser2306Cys)
c.6811A>T (p.Ser2271Cys)
c.6802A>T (p.Ser2268Cys)
c.6763A>T (p.Ser2255Cys)
c.6709A>T (p.Ser2237Cys)
c.6613A>T (p.Ser2205Cys)
c.6583A>T (p.Ser2195Cys)
c.6508A>T (p.Ser2170Cys)
c.6406A>T (p.Ser2136Cys)
c.6037A>T (p.Ser2013Cys)
ClinVar dbSNP
5g.112842481G>ACA16036358APCc.6941G>A (p.Ser2314Asn)
c.*6893G>A (n.*6893G>A)
c.6833G>A (p.Ser2278Asn)
c.6887G>A (p.Ser2296Asn)
c.*6209G>A (n.*6209G>A)
c.230+13509G>A
c.6917G>A (p.Ser2306Asn)
c.6812G>A (p.Ser2271Asn)
c.6803G>A (p.Ser2268Asn)
c.6764G>A (p.Ser2255Asn)
c.6710G>A (p.Ser2237Asn)
c.6614G>A (p.Ser2205Asn)
c.6584G>A (p.Ser2195Asn)
c.6509G>A (p.Ser2170Asn)
c.6407G>A (p.Ser2136Asn)
c.6038G>A (p.Ser2013Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842481G>CCA16036359APCc.6941G>C (p.Ser2314Thr)
c.*6893G>C (n.*6893G>C)
c.6833G>C (p.Ser2278Thr)
c.6887G>C (p.Ser2296Thr)
c.*6209G>C (n.*6209G>C)
c.230+13509G>C
c.6917G>C (p.Ser2306Thr)
c.6812G>C (p.Ser2271Thr)
c.6803G>C (p.Ser2268Thr)
c.6764G>C (p.Ser2255Thr)
c.6710G>C (p.Ser2237Thr)
c.6614G>C (p.Ser2205Thr)
c.6584G>C (p.Ser2195Thr)
c.6509G>C (p.Ser2170Thr)
c.6407G>C (p.Ser2136Thr)
c.6038G>C (p.Ser2013Thr)
dbSNP
5g.112842481G=CA1573485351APCc.6941G= (p.Ser2314=)
c.*6893G= (n.*6893G=)
c.6833G= (p.Ser2278=)
c.6887G= (p.Ser2296=)
c.*6209G= (n.*6209G=)
c.230+13509G=
c.6917G= (p.Ser2306=)
c.6812G= (p.Ser2271=)
c.6803G= (p.Ser2268=)
c.6764G= (p.Ser2255=)
c.6710G= (p.Ser2237=)
c.6614G= (p.Ser2205=)
c.6584G= (p.Ser2195=)
c.6509G= (p.Ser2170=)
c.6407G= (p.Ser2136=)
c.6038G= (p.Ser2013=)
5g.112842481G>TCA16036360APCc.6941G>T (p.Ser2314Ile)
c.*6893G>T (n.*6893G>T)
c.6833G>T (p.Ser2278Ile)
c.6887G>T (p.Ser2296Ile)
c.*6209G>T (n.*6209G>T)
c.230+13509G>T
c.6917G>T (p.Ser2306Ile)
c.6812G>T (p.Ser2271Ile)
c.6803G>T (p.Ser2268Ile)
c.6764G>T (p.Ser2255Ile)
c.6710G>T (p.Ser2237Ile)
c.6614G>T (p.Ser2205Ile)
c.6584G>T (p.Ser2195Ile)
c.6509G>T (p.Ser2170Ile)
c.6407G>T (p.Ser2136Ile)
c.6038G>T (p.Ser2013Ile)
5g.112842482T>ACA16036361APCc.6942T>A (p.Ser2314Arg)
c.*6894T>A (n.*6894T>A)
c.6834T>A (p.Ser2278Arg)
c.6888T>A (p.Ser2296Arg)
c.*6210T>A (n.*6210T>A)
c.230+13510T>A
c.6918T>A (p.Ser2306Arg)
c.6813T>A (p.Ser2271Arg)
c.6804T>A (p.Ser2268Arg)
c.6765T>A (p.Ser2255Arg)
c.6711T>A (p.Ser2237Arg)
c.6615T>A (p.Ser2205Arg)
c.6585T>A (p.Ser2195Arg)
c.6510T>A (p.Ser2170Arg)
c.6408T>A (p.Ser2136Arg)
c.6039T>A (p.Ser2013Arg)
5g.112842482T>CCA446210423APCc.6942T>C (p.Ser2314=)
c.*6894T>C (n.*6894T>C)
c.6834T>C (p.Ser2278=)
c.6888T>C (p.Ser2296=)
c.*6210T>C (n.*6210T>C)
c.230+13510T>C
c.6918T>C (p.Ser2306=)
c.6813T>C (p.Ser2271=)
c.6804T>C (p.Ser2268=)
c.6765T>C (p.Ser2255=)
c.6711T>C (p.Ser2237=)
c.6615T>C (p.Ser2205=)
c.6585T>C (p.Ser2195=)
c.6510T>C (p.Ser2170=)
c.6408T>C (p.Ser2136=)
c.6039T>C (p.Ser2013=)
5g.112842482T>GCA046384APCc.6942T>G (p.Ser2314Arg)
c.*6894T>G (n.*6894T>G)
c.6834T>G (p.Ser2278Arg)
c.6888T>G (p.Ser2296Arg)
c.*6210T>G (n.*6210T>G)
c.230+13510T>G
c.6918T>G (p.Ser2306Arg)
c.6813T>G (p.Ser2271Arg)
c.6804T>G (p.Ser2268Arg)
c.6765T>G (p.Ser2255Arg)
c.6711T>G (p.Ser2237Arg)
c.6615T>G (p.Ser2205Arg)
c.6585T>G (p.Ser2195Arg)
c.6510T>G (p.Ser2170Arg)
c.6408T>G (p.Ser2136Arg)
c.6039T>G (p.Ser2013Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842482T=CA1573485360APCc.6942T= (p.Ser2314=)
c.*6894T= (n.*6894T=)
c.6834T= (p.Ser2278=)
c.6888T= (p.Ser2296=)
c.*6210T= (n.*6210T=)
c.230+13510T=
c.6918T= (p.Ser2306=)
c.6813T= (p.Ser2271=)
c.6804T= (p.Ser2268=)
c.6765T= (p.Ser2255=)
c.6711T= (p.Ser2237=)
c.6615T= (p.Ser2205=)
c.6585T= (p.Ser2195=)
c.6510T= (p.Ser2170=)
c.6408T= (p.Ser2136=)
c.6039T= (p.Ser2013=)
5g.112842483A>CCA16036362APCc.6943A>C (p.Lys2315Gln)
c.*6895A>C (n.*6895A>C)
c.6835A>C (p.Lys2279Gln)
c.6889A>C (p.Lys2297Gln)
c.*6211A>C (n.*6211A>C)
c.230+13511A>C
c.6919A>C (p.Lys2307Gln)
c.6814A>C (p.Lys2272Gln)
c.6805A>C (p.Lys2269Gln)
c.6766A>C (p.Lys2256Gln)
c.6712A>C (p.Lys2238Gln)
c.6616A>C (p.Lys2206Gln)
c.6586A>C (p.Lys2196Gln)
c.6511A>C (p.Lys2171Gln)
c.6409A>C (p.Lys2137Gln)
c.6040A>C (p.Lys2014Gln)
ClinVar
5g.112842483A>GCA16036363APCc.6943A>G (p.Lys2315Glu)
c.*6895A>G (n.*6895A>G)
c.6835A>G (p.Lys2279Glu)
c.6889A>G (p.Lys2297Glu)
c.*6211A>G (n.*6211A>G)
c.230+13511A>G
c.6919A>G (p.Lys2307Glu)
c.6814A>G (p.Lys2272Glu)
c.6805A>G (p.Lys2269Glu)
c.6766A>G (p.Lys2256Glu)
c.6712A>G (p.Lys2238Glu)
c.6616A>G (p.Lys2206Glu)
c.6586A>G (p.Lys2196Glu)
c.6511A>G (p.Lys2171Glu)
c.6409A>G (p.Lys2137Glu)
c.6040A>G (p.Lys2014Glu)
ClinVar dbSNP COSMIC
5g.112842483A>TCA16036364APCc.6943A>T (p.Lys2315Ter)
c.*6895A>T (n.*6895A>T)
c.6835A>T (p.Lys2279Ter)
c.6889A>T (p.Lys2297Ter)
c.*6211A>T (n.*6211A>T)
c.230+13511A>T
c.6919A>T (p.Lys2307Ter)
c.6814A>T (p.Lys2272Ter)
c.6805A>T (p.Lys2269Ter)
c.6766A>T (p.Lys2256Ter)
c.6712A>T (p.Lys2238Ter)
c.6616A>T (p.Lys2206Ter)
c.6586A>T (p.Lys2196Ter)
c.6511A>T (p.Lys2171Ter)
c.6409A>T (p.Lys2137Ter)
c.6040A>T (p.Lys2014Ter)
dbSNP
5g.112842485dupCA2739271286APCc.6945dup (p.Ala2316SerfsTer4)
c.*6897dup (n.*6897dup)
c.6837dup (p.Ala2280SerfsTer4)
c.6891dup (p.Ala2298SerfsTer4)
c.*6213dup (n.*6213dup)
c.230+13513dup
c.6921dup (p.Ala2308SerfsTer4)
c.6816dup (p.Ala2273SerfsTer4)
c.6807dup (p.Ala2270SerfsTer4)
c.6768dup (p.Ala2257SerfsTer4)
c.6714dup (p.Ala2239SerfsTer4)
c.6618dup (p.Ala2207SerfsTer4)
c.6588dup (p.Ala2197SerfsTer4)
c.6513dup (p.Ala2172SerfsTer4)
c.6411dup (p.Ala2138SerfsTer4)
c.6042dup (p.Ala2015SerfsTer4)
ClinVar
5g.112842484A>CCA16036365APCc.6944A>C (p.Lys2315Thr)
c.*6896A>C (n.*6896A>C)
c.6836A>C (p.Lys2279Thr)
c.6890A>C (p.Lys2297Thr)
c.*6212A>C (n.*6212A>C)
c.230+13512A>C
c.6920A>C (p.Lys2307Thr)
c.6815A>C (p.Lys2272Thr)
c.6806A>C (p.Lys2269Thr)
c.6767A>C (p.Lys2256Thr)
c.6713A>C (p.Lys2238Thr)
c.6617A>C (p.Lys2206Thr)
c.6587A>C (p.Lys2196Thr)
c.6512A>C (p.Lys2171Thr)
c.6410A>C (p.Lys2137Thr)
c.6041A>C (p.Lys2014Thr)
dbSNP
5g.112842484A>GCA16036366APCc.6944A>G (p.Lys2315Arg)
c.*6896A>G (n.*6896A>G)
c.6836A>G (p.Lys2279Arg)
c.6890A>G (p.Lys2297Arg)
c.*6212A>G (n.*6212A>G)
c.230+13512A>G
c.6920A>G (p.Lys2307Arg)
c.6815A>G (p.Lys2272Arg)
c.6806A>G (p.Lys2269Arg)
c.6767A>G (p.Lys2256Arg)
c.6713A>G (p.Lys2238Arg)
c.6617A>G (p.Lys2206Arg)
c.6587A>G (p.Lys2196Arg)
c.6512A>G (p.Lys2171Arg)
c.6410A>G (p.Lys2137Arg)
c.6041A>G (p.Lys2014Arg)
dbSNP
5g.112842484A>TCA16036367APCc.6944A>T (p.Lys2315Ile)
c.*6896A>T (n.*6896A>T)
c.6836A>T (p.Lys2279Ile)
c.6890A>T (p.Lys2297Ile)
c.*6212A>T (n.*6212A>T)
c.230+13512A>T
c.6920A>T (p.Lys2307Ile)
c.6815A>T (p.Lys2272Ile)
c.6806A>T (p.Lys2269Ile)
c.6767A>T (p.Lys2256Ile)
c.6713A>T (p.Lys2238Ile)
c.6617A>T (p.Lys2206Ile)
c.6587A>T (p.Lys2196Ile)
c.6512A>T (p.Lys2171Ile)
c.6410A>T (p.Lys2137Ile)
c.6041A>T (p.Lys2014Ile)
dbSNP
5g.112842485A>CCA16036368APCc.6945A>C (p.Lys2315Asn)
c.*6897A>C (n.*6897A>C)
c.6837A>C (p.Lys2279Asn)
c.6891A>C (p.Lys2297Asn)
c.*6213A>C (n.*6213A>C)
c.230+13513A>C
c.6921A>C (p.Lys2307Asn)
c.6816A>C (p.Lys2272Asn)
c.6807A>C (p.Lys2269Asn)
c.6768A>C (p.Lys2256Asn)
c.6714A>C (p.Lys2238Asn)
c.6618A>C (p.Lys2206Asn)
c.6588A>C (p.Lys2196Asn)
c.6513A>C (p.Lys2171Asn)
c.6411A>C (p.Lys2137Asn)
c.6042A>C (p.Lys2014Asn)
5g.112842485A>GCA446210427APCc.6945A>G (p.Lys2315=)
c.*6897A>G (n.*6897A>G)
c.6837A>G (p.Lys2279=)
c.6891A>G (p.Lys2297=)
c.*6213A>G (n.*6213A>G)
c.230+13513A>G
c.6921A>G (p.Lys2307=)
c.6816A>G (p.Lys2272=)
c.6807A>G (p.Lys2269=)
c.6768A>G (p.Lys2256=)
c.6714A>G (p.Lys2238=)
c.6618A>G (p.Lys2206=)
c.6588A>G (p.Lys2196=)
c.6513A>G (p.Lys2171=)
c.6411A>G (p.Lys2137=)
c.6042A>G (p.Lys2014=)
dbSNP
5g.112842485A>TCA16036369APCc.6945A>T (p.Lys2315Asn)
c.*6897A>T (n.*6897A>T)
c.6837A>T (p.Lys2279Asn)
c.6891A>T (p.Lys2297Asn)
c.*6213A>T (n.*6213A>T)
c.230+13513A>T
c.6921A>T (p.Lys2307Asn)
c.6816A>T (p.Lys2272Asn)
c.6807A>T (p.Lys2269Asn)
c.6768A>T (p.Lys2256Asn)
c.6714A>T (p.Lys2238Asn)
c.6618A>T (p.Lys2206Asn)
c.6588A>T (p.Lys2196Asn)
c.6513A>T (p.Lys2171Asn)
c.6411A>T (p.Lys2137Asn)
c.6042A>T (p.Lys2014Asn)
dbSNP
5g.112842486G>ACA16036370APCc.6946G>A (p.Ala2316Thr)
c.*6898G>A (n.*6898G>A)
c.6838G>A (p.Ala2280Thr)
c.6892G>A (p.Ala2298Thr)
c.*6214G>A (n.*6214G>A)
c.230+13514G>A
c.6922G>A (p.Ala2308Thr)
c.6817G>A (p.Ala2273Thr)
c.6808G>A (p.Ala2270Thr)
c.6769G>A (p.Ala2257Thr)
c.6715G>A (p.Ala2239Thr)
c.6619G>A (p.Ala2207Thr)
c.6589G>A (p.Ala2197Thr)
c.6514G>A (p.Ala2172Thr)
c.6412G>A (p.Ala2138Thr)
c.6043G>A (p.Ala2015Thr)
dbSNP gnomAD v4
5g.112842486G>CCA16036371APCc.6946G>C (p.Ala2316Pro)
c.*6898G>C (n.*6898G>C)
c.6838G>C (p.Ala2280Pro)
c.6892G>C (p.Ala2298Pro)
c.*6214G>C (n.*6214G>C)
c.230+13514G>C
c.6922G>C (p.Ala2308Pro)
c.6817G>C (p.Ala2273Pro)
c.6808G>C (p.Ala2270Pro)
c.6769G>C (p.Ala2257Pro)
c.6715G>C (p.Ala2239Pro)
c.6619G>C (p.Ala2207Pro)
c.6589G>C (p.Ala2197Pro)
c.6514G>C (p.Ala2172Pro)
c.6412G>C (p.Ala2138Pro)
c.6043G>C (p.Ala2015Pro)
dbSNP
5g.112842486G>TCA16036372APCc.6946G>T (p.Ala2316Ser)
c.*6898G>T (n.*6898G>T)
c.6838G>T (p.Ala2280Ser)
c.6892G>T (p.Ala2298Ser)
c.*6214G>T (n.*6214G>T)
c.230+13514G>T
c.6922G>T (p.Ala2308Ser)
c.6817G>T (p.Ala2273Ser)
c.6808G>T (p.Ala2270Ser)
c.6769G>T (p.Ala2257Ser)
c.6715G>T (p.Ala2239Ser)
c.6619G>T (p.Ala2207Ser)
c.6589G>T (p.Ala2197Ser)
c.6514G>T (p.Ala2172Ser)
c.6412G>T (p.Ala2138Ser)
c.6043G>T (p.Ala2015Ser)
dbSNP
5g.112842487C>ACA16036373APCc.6947C>A (p.Ala2316Glu)
c.*6899C>A (n.*6899C>A)
c.6839C>A (p.Ala2280Glu)
c.6893C>A (p.Ala2298Glu)
c.*6215C>A (n.*6215C>A)
c.230+13515C>A
c.6923C>A (p.Ala2308Glu)
c.6818C>A (p.Ala2273Glu)
c.6809C>A (p.Ala2270Glu)
c.6770C>A (p.Ala2257Glu)
c.6716C>A (p.Ala2239Glu)
c.6620C>A (p.Ala2207Glu)
c.6590C>A (p.Ala2197Glu)
c.6515C>A (p.Ala2172Glu)
c.6413C>A (p.Ala2138Glu)
c.6044C>A (p.Ala2015Glu)
ClinVar dbSNP gnomAD v4
5g.112842487C=CA1573485365APCc.6947C= (p.Ala2316=)
c.*6899C= (n.*6899C=)
c.6839C= (p.Ala2280=)
c.6893C= (p.Ala2298=)
c.*6215C= (n.*6215C=)
c.230+13515C=
c.6923C= (p.Ala2308=)
c.6818C= (p.Ala2273=)
c.6809C= (p.Ala2270=)
c.6770C= (p.Ala2257=)
c.6716C= (p.Ala2239=)
c.6620C= (p.Ala2207=)
c.6590C= (p.Ala2197=)
c.6515C= (p.Ala2172=)
c.6413C= (p.Ala2138=)
c.6044C= (p.Ala2015=)
5g.112842487C>GCA16036374APCc.6947C>G (p.Ala2316Gly)
c.*6899C>G (n.*6899C>G)
c.6839C>G (p.Ala2280Gly)
c.6893C>G (p.Ala2298Gly)
c.*6215C>G (n.*6215C>G)
c.230+13515C>G
c.6923C>G (p.Ala2308Gly)
c.6818C>G (p.Ala2273Gly)
c.6809C>G (p.Ala2270Gly)
c.6770C>G (p.Ala2257Gly)
c.6716C>G (p.Ala2239Gly)
c.6620C>G (p.Ala2207Gly)
c.6590C>G (p.Ala2197Gly)
c.6515C>G (p.Ala2172Gly)
c.6413C>G (p.Ala2138Gly)
c.6044C>G (p.Ala2015Gly)
ClinVar dbSNP
5g.112842487C>TCA16036375APCc.6947C>T (p.Ala2316Val)
c.*6899C>T (n.*6899C>T)
c.6839C>T (p.Ala2280Val)
c.6893C>T (p.Ala2298Val)
c.*6215C>T (n.*6215C>T)
c.230+13515C>T
c.6923C>T (p.Ala2308Val)
c.6818C>T (p.Ala2273Val)
c.6809C>T (p.Ala2270Val)
c.6770C>T (p.Ala2257Val)
c.6716C>T (p.Ala2239Val)
c.6620C>T (p.Ala2207Val)
c.6590C>T (p.Ala2197Val)
c.6515C>T (p.Ala2172Val)
c.6413C>T (p.Ala2138Val)
c.6044C>T (p.Ala2015Val)
ClinVar dbSNP gnomAD v4
5g.112842488A>CCA446210430APCc.6948A>C (p.Ala2316=)
c.*6900A>C (n.*6900A>C)
c.6840A>C (p.Ala2280=)
c.6894A>C (p.Ala2298=)
c.*6216A>C (n.*6216A>C)
c.230+13516A>C
c.6924A>C (p.Ala2308=)
c.6819A>C (p.Ala2273=)
c.6810A>C (p.Ala2270=)
c.6771A>C (p.Ala2257=)
c.6717A>C (p.Ala2239=)
c.6621A>C (p.Ala2207=)
c.6591A>C (p.Ala2197=)
c.6516A>C (p.Ala2172=)
c.6414A>C (p.Ala2138=)
c.6045A>C (p.Ala2015=)
dbSNP
5g.112842488A>GCA446210431APCc.6948A>G (p.Ala2316=)
c.*6900A>G (n.*6900A>G)
c.6840A>G (p.Ala2280=)
c.6894A>G (p.Ala2298=)
c.*6216A>G (n.*6216A>G)
c.230+13516A>G
c.6924A>G (p.Ala2308=)
c.6819A>G (p.Ala2273=)
c.6810A>G (p.Ala2270=)
c.6771A>G (p.Ala2257=)
c.6717A>G (p.Ala2239=)
c.6621A>G (p.Ala2207=)
c.6591A>G (p.Ala2197=)
c.6516A>G (p.Ala2172=)
c.6414A>G (p.Ala2138=)
c.6045A>G (p.Ala2015=)
ClinVar dbSNP
5g.112842488A>TCA446210435APCc.6948A>T (p.Ala2316=)
c.*6900A>T (n.*6900A>T)
c.6840A>T (p.Ala2280=)
c.6894A>T (p.Ala2298=)
c.*6216A>T (n.*6216A>T)
c.230+13516A>T
c.6924A>T (p.Ala2308=)
c.6819A>T (p.Ala2273=)
c.6810A>T (p.Ala2270=)
c.6771A>T (p.Ala2257=)
c.6717A>T (p.Ala2239=)
c.6621A>T (p.Ala2207=)
c.6591A>T (p.Ala2197=)
c.6516A>T (p.Ala2172=)
c.6414A>T (p.Ala2138=)
c.6045A>T (p.Ala2015=)
dbSNP
5g.112842489C>ACA16036376APCc.6949C>A (p.Pro2317Thr)
c.*6901C>A (n.*6901C>A)
c.6841C>A (p.Pro2281Thr)
c.6895C>A (p.Pro2299Thr)
c.*6217C>A (n.*6217C>A)
c.230+13517C>A
c.6925C>A (p.Pro2309Thr)
c.6820C>A (p.Pro2274Thr)
c.6811C>A (p.Pro2271Thr)
c.6772C>A (p.Pro2258Thr)
c.6718C>A (p.Pro2240Thr)
c.6622C>A (p.Pro2208Thr)
c.6592C>A (p.Pro2198Thr)
c.6517C>A (p.Pro2173Thr)
c.6415C>A (p.Pro2139Thr)
c.6046C>A (p.Pro2016Thr)
ClinVar dbSNP
5g.112842489C=CA1573485380APCc.6949C= (p.Pro2317=)
c.*6901C= (n.*6901C=)
c.6841C= (p.Pro2281=)
c.6895C= (p.Pro2299=)
c.*6217C= (n.*6217C=)
c.230+13517C=
c.6925C= (p.Pro2309=)
c.6820C= (p.Pro2274=)
c.6811C= (p.Pro2271=)
c.6772C= (p.Pro2258=)
c.6718C= (p.Pro2240=)
c.6622C= (p.Pro2208=)
c.6592C= (p.Pro2198=)
c.6517C= (p.Pro2173=)
c.6415C= (p.Pro2139=)
c.6046C= (p.Pro2016=)
5g.112842489C>GCA16036377APCc.6949C>G (p.Pro2317Ala)
c.*6901C>G (n.*6901C>G)
c.6841C>G (p.Pro2281Ala)
c.6895C>G (p.Pro2299Ala)
c.*6217C>G (n.*6217C>G)
c.230+13517C>G
c.6925C>G (p.Pro2309Ala)
c.6820C>G (p.Pro2274Ala)
c.6811C>G (p.Pro2271Ala)
c.6772C>G (p.Pro2258Ala)
c.6718C>G (p.Pro2240Ala)
c.6622C>G (p.Pro2208Ala)
c.6592C>G (p.Pro2198Ala)
c.6517C>G (p.Pro2173Ala)
c.6415C>G (p.Pro2139Ala)
c.6046C>G (p.Pro2016Ala)
ClinVar dbSNP
5g.112842489C>TCA16036378APCc.6949C>T (p.Pro2317Ser)
c.*6901C>T (n.*6901C>T)
c.6841C>T (p.Pro2281Ser)
c.6895C>T (p.Pro2299Ser)
c.*6217C>T (n.*6217C>T)
c.230+13517C>T
c.6925C>T (p.Pro2309Ser)
c.6820C>T (p.Pro2274Ser)
c.6811C>T (p.Pro2271Ser)
c.6772C>T (p.Pro2258Ser)
c.6718C>T (p.Pro2240Ser)
c.6622C>T (p.Pro2208Ser)
c.6592C>T (p.Pro2198Ser)
c.6517C>T (p.Pro2173Ser)
c.6415C>T (p.Pro2139Ser)
c.6046C>T (p.Pro2016Ser)
ClinVar dbSNP gnomAD v4
5g.112842489_112842492delinsCCTTCA1573485378APCc.6949_6952delinsCCTT (p.Pro2317=)
c.*6901_*6904delinsCCTT (n.*6901_*6904delinsCCTT)
c.6841_6844delinsCCTT (p.Pro2281=)
c.6895_6898delinsCCTT (p.Pro2299=)
c.*6217_*6220delinsCCTT (n.*6217_*6220delinsCCTT)
c.230+13517_230+13520delinsCCTT
c.6925_6928delinsCCTT (p.Pro2309=)
c.6820_6823delinsCCTT (p.Pro2274=)
c.6811_6814delinsCCTT (p.Pro2271=)
c.6772_6775delinsCCTT (p.Pro2258=)
c.6718_6721delinsCCTT (p.Pro2240=)
c.6622_6625delinsCCTT (p.Pro2208=)
c.6592_6595delinsCCTT (p.Pro2198=)
c.6517_6520delinsCCTT (p.Pro2173=)
c.6415_6418delinsCCTT (p.Pro2139=)
c.6046_6049delinsCCTT (p.Pro2016=)
5g.112842490C>ACA16036379APCc.6950C>A (p.Pro2317His)
c.*6902C>A (n.*6902C>A)
c.6842C>A (p.Pro2281His)
c.6896C>A (p.Pro2299His)
c.*6218C>A (n.*6218C>A)
c.230+13518C>A
c.6926C>A (p.Pro2309His)
c.6821C>A (p.Pro2274His)
c.6812C>A (p.Pro2271His)
c.6773C>A (p.Pro2258His)
c.6719C>A (p.Pro2240His)
c.6623C>A (p.Pro2208His)
c.6593C>A (p.Pro2198His)
c.6518C>A (p.Pro2173His)
c.6416C>A (p.Pro2139His)
c.6047C>A (p.Pro2016His)
dbSNP
5g.112842490C=CA1573485388APCc.6950C= (p.Pro2317=)
c.*6902C= (n.*6902C=)
c.6842C= (p.Pro2281=)
c.6896C= (p.Pro2299=)
c.*6218C= (n.*6218C=)
c.230+13518C=
c.6926C= (p.Pro2309=)
c.6821C= (p.Pro2274=)
c.6812C= (p.Pro2271=)
c.6773C= (p.Pro2258=)
c.6719C= (p.Pro2240=)
c.6623C= (p.Pro2208=)
c.6593C= (p.Pro2198=)
c.6518C= (p.Pro2173=)
c.6416C= (p.Pro2139=)
c.6047C= (p.Pro2016=)
5g.112842490C>GCA16036380APCc.6950C>G (p.Pro2317Arg)
c.*6902C>G (n.*6902C>G)
c.6842C>G (p.Pro2281Arg)
c.6896C>G (p.Pro2299Arg)
c.*6218C>G (n.*6218C>G)
c.230+13518C>G
c.6926C>G (p.Pro2309Arg)
c.6821C>G (p.Pro2274Arg)
c.6812C>G (p.Pro2271Arg)
c.6773C>G (p.Pro2258Arg)
c.6719C>G (p.Pro2240Arg)
c.6623C>G (p.Pro2208Arg)
c.6593C>G (p.Pro2198Arg)
c.6518C>G (p.Pro2173Arg)
c.6416C>G (p.Pro2139Arg)
c.6047C>G (p.Pro2016Arg)
dbSNP
5g.112842490C>TCA10578439APCc.6950C>T (p.Pro2317Leu)
c.*6902C>T (n.*6902C>T)
c.6842C>T (p.Pro2281Leu)
c.6896C>T (p.Pro2299Leu)
c.*6218C>T (n.*6218C>T)
c.230+13518C>T
c.6926C>T (p.Pro2309Leu)
c.6821C>T (p.Pro2274Leu)
c.6812C>T (p.Pro2271Leu)
c.6773C>T (p.Pro2258Leu)
c.6719C>T (p.Pro2240Leu)
c.6623C>T (p.Pro2208Leu)
c.6593C>T (p.Pro2198Leu)
c.6518C>T (p.Pro2173Leu)
c.6416C>T (p.Pro2139Leu)
c.6047C>T (p.Pro2016Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842492_112842494delCA658656000APCc.6952_6954del (p.Ser2318del)
c.*6904_*6906del (n.*6904_*6906del)
c.6844_6846del (p.Ser2282del)
c.6898_6900del (p.Ser2300del)
c.*6220_*6222del (n.*6220_*6222del)
c.230+13520_230+13522del
c.6928_6930del (p.Ser2310del)
c.6823_6825del (p.Ser2275del)
c.6814_6816del (p.Ser2272del)
c.6775_6777del (p.Ser2259del)
c.6721_6723del (p.Ser2241del)
c.6625_6627del (p.Ser2209del)
c.6595_6597del (p.Ser2199del)
c.6520_6522del (p.Ser2174del)
c.6418_6420del (p.Ser2140del)
c.6049_6051del (p.Ser2017del)
ClinVar dbSNP gnomAD v4
5g.112842491T>ACA446210439APCc.6951T>A (p.Pro2317=)
c.*6903T>A (n.*6903T>A)
c.6843T>A (p.Pro2281=)
c.6897T>A (p.Pro2299=)
c.*6219T>A (n.*6219T>A)
c.230+13519T>A
c.6927T>A (p.Pro2309=)
c.6822T>A (p.Pro2274=)
c.6813T>A (p.Pro2271=)
c.6774T>A (p.Pro2258=)
c.6720T>A (p.Pro2240=)
c.6624T>A (p.Pro2208=)
c.6594T>A (p.Pro2198=)
c.6519T>A (p.Pro2173=)
c.6417T>A (p.Pro2139=)
c.6048T>A (p.Pro2016=)
dbSNP
5g.112842491T>CCA446210445APCc.6951T>C (p.Pro2317=)
c.*6903T>C (n.*6903T>C)
c.6843T>C (p.Pro2281=)
c.6897T>C (p.Pro2299=)
c.*6219T>C (n.*6219T>C)
c.230+13519T>C
c.6927T>C (p.Pro2309=)
c.6822T>C (p.Pro2274=)
c.6813T>C (p.Pro2271=)
c.6774T>C (p.Pro2258=)
c.6720T>C (p.Pro2240=)
c.6624T>C (p.Pro2208=)
c.6594T>C (p.Pro2198=)
c.6519T>C (p.Pro2173=)
c.6417T>C (p.Pro2139=)
c.6048T>C (p.Pro2016=)
dbSNP
5g.112842491T>GCA446210442APCc.6951T>G (p.Pro2317=)
c.*6903T>G (n.*6903T>G)
c.6843T>G (p.Pro2281=)
c.6897T>G (p.Pro2299=)
c.*6219T>G (n.*6219T>G)
c.230+13519T>G
c.6927T>G (p.Pro2309=)
c.6822T>G (p.Pro2274=)
c.6813T>G (p.Pro2271=)
c.6774T>G (p.Pro2258=)
c.6720T>G (p.Pro2240=)
c.6624T>G (p.Pro2208=)
c.6594T>G (p.Pro2198=)
c.6519T>G (p.Pro2173=)
c.6417T>G (p.Pro2139=)
c.6048T>G (p.Pro2016=)
dbSNP
5g.112842492T>ACA16036381APCc.6952T>A (p.Ser2318Thr)
c.*6904T>A (n.*6904T>A)
c.6844T>A (p.Ser2282Thr)
c.6898T>A (p.Ser2300Thr)
c.*6220T>A (n.*6220T>A)
c.230+13520T>A
c.6928T>A (p.Ser2310Thr)
c.6823T>A (p.Ser2275Thr)
c.6814T>A (p.Ser2272Thr)
c.6775T>A (p.Ser2259Thr)
c.6721T>A (p.Ser2241Thr)
c.6625T>A (p.Ser2209Thr)
c.6595T>A (p.Ser2199Thr)
c.6520T>A (p.Ser2174Thr)
c.6418T>A (p.Ser2140Thr)
c.6049T>A (p.Ser2017Thr)
dbSNP
5g.112842492T>CCA16036382APCc.6952T>C (p.Ser2318Pro)
c.*6904T>C (n.*6904T>C)
c.6844T>C (p.Ser2282Pro)
c.6898T>C (p.Ser2300Pro)
c.*6220T>C (n.*6220T>C)
c.230+13520T>C
c.6928T>C (p.Ser2310Pro)
c.6823T>C (p.Ser2275Pro)
c.6814T>C (p.Ser2272Pro)
c.6775T>C (p.Ser2259Pro)
c.6721T>C (p.Ser2241Pro)
c.6625T>C (p.Ser2209Pro)
c.6595T>C (p.Ser2199Pro)
c.6520T>C (p.Ser2174Pro)
c.6418T>C (p.Ser2140Pro)
c.6049T>C (p.Ser2017Pro)
ClinVar dbSNP
5g.112842492T>GCA16036383APCc.6952T>G (p.Ser2318Ala)
c.*6904T>G (n.*6904T>G)
c.6844T>G (p.Ser2282Ala)
c.6898T>G (p.Ser2300Ala)
c.*6220T>G (n.*6220T>G)
c.230+13520T>G
c.6928T>G (p.Ser2310Ala)
c.6823T>G (p.Ser2275Ala)
c.6814T>G (p.Ser2272Ala)
c.6775T>G (p.Ser2259Ala)
c.6721T>G (p.Ser2241Ala)
c.6625T>G (p.Ser2209Ala)
c.6595T>G (p.Ser2199Ala)
c.6520T>G (p.Ser2174Ala)
c.6418T>G (p.Ser2140Ala)
c.6049T>G (p.Ser2017Ala)
ClinVar dbSNP
5g.112842492T=CA1573485398APCc.6952T= (p.Ser2318=)
c.*6904T= (n.*6904T=)
c.6844T= (p.Ser2282=)
c.6898T= (p.Ser2300=)
c.*6220T= (n.*6220T=)
c.230+13520T=
c.6928T= (p.Ser2310=)
c.6823T= (p.Ser2275=)
c.6814T= (p.Ser2272=)
c.6775T= (p.Ser2259=)
c.6721T= (p.Ser2241=)
c.6625T= (p.Ser2209=)
c.6595T= (p.Ser2199=)
c.6520T= (p.Ser2174=)
c.6418T= (p.Ser2140=)
c.6049T= (p.Ser2017=)
5g.112842493C>ACA16036384APCc.6953C>A (p.Ser2318Tyr)
c.*6905C>A (n.*6905C>A)
c.6845C>A (p.Ser2282Tyr)
c.6899C>A (p.Ser2300Tyr)
c.*6221C>A (n.*6221C>A)
c.230+13521C>A
c.6929C>A (p.Ser2310Tyr)
c.6824C>A (p.Ser2275Tyr)
c.6815C>A (p.Ser2272Tyr)
c.6776C>A (p.Ser2259Tyr)
c.6722C>A (p.Ser2241Tyr)
c.6626C>A (p.Ser2209Tyr)
c.6596C>A (p.Ser2199Tyr)
c.6521C>A (p.Ser2174Tyr)
c.6419C>A (p.Ser2140Tyr)
c.6050C>A (p.Ser2017Tyr)
ClinVar dbSNP
5g.112842493C>GCA16036385APCc.6953C>G (p.Ser2318Cys)
c.*6905C>G (n.*6905C>G)
c.6845C>G (p.Ser2282Cys)
c.6899C>G (p.Ser2300Cys)
c.*6221C>G (n.*6221C>G)
c.230+13521C>G
c.6929C>G (p.Ser2310Cys)
c.6824C>G (p.Ser2275Cys)
c.6815C>G (p.Ser2272Cys)
c.6776C>G (p.Ser2259Cys)
c.6722C>G (p.Ser2241Cys)
c.6626C>G (p.Ser2209Cys)
c.6596C>G (p.Ser2199Cys)
c.6521C>G (p.Ser2174Cys)
c.6419C>G (p.Ser2140Cys)
c.6050C>G (p.Ser2017Cys)
5g.112842493C>TCA16036386APCc.6953C>T (p.Ser2318Phe)
c.*6905C>T (n.*6905C>T)
c.6845C>T (p.Ser2282Phe)
c.6899C>T (p.Ser2300Phe)
c.*6221C>T (n.*6221C>T)
c.230+13521C>T
c.6929C>T (p.Ser2310Phe)
c.6824C>T (p.Ser2275Phe)
c.6815C>T (p.Ser2272Phe)
c.6776C>T (p.Ser2259Phe)
c.6722C>T (p.Ser2241Phe)
c.6626C>T (p.Ser2209Phe)
c.6596C>T (p.Ser2199Phe)
c.6521C>T (p.Ser2174Phe)
c.6419C>T (p.Ser2140Phe)
c.6050C>T (p.Ser2017Phe)
ClinVar dbSNP gnomAD v4
5g.112842494T>ACA446210447APCc.6954T>A (p.Ser2318=)
c.*6906T>A (n.*6906T>A)
c.6846T>A (p.Ser2282=)
c.6900T>A (p.Ser2300=)
c.*6222T>A (n.*6222T>A)
c.230+13522T>A
c.6930T>A (p.Ser2310=)
c.6825T>A (p.Ser2275=)
c.6816T>A (p.Ser2272=)
c.6777T>A (p.Ser2259=)
c.6723T>A (p.Ser2241=)
c.6627T>A (p.Ser2209=)
c.6597T>A (p.Ser2199=)
c.6522T>A (p.Ser2174=)
c.6420T>A (p.Ser2140=)
c.6051T>A (p.Ser2017=)
ClinVar dbSNP
5g.112842494T>CCA125167807APCc.6954T>C (p.Ser2318=)
c.*6906T>C (n.*6906T>C)
c.6846T>C (p.Ser2282=)
c.6900T>C (p.Ser2300=)
c.*6222T>C (n.*6222T>C)
c.230+13522T>C
c.6930T>C (p.Ser2310=)
c.6825T>C (p.Ser2275=)
c.6816T>C (p.Ser2272=)
c.6777T>C (p.Ser2259=)
c.6723T>C (p.Ser2241=)
c.6627T>C (p.Ser2209=)
c.6597T>C (p.Ser2199=)
c.6522T>C (p.Ser2174=)
c.6420T>C (p.Ser2140=)
c.6051T>C (p.Ser2017=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842494T>GCA446210450APCc.6954T>G (p.Ser2318=)
c.*6906T>G (n.*6906T>G)
c.6846T>G (p.Ser2282=)
c.6900T>G (p.Ser2300=)
c.*6222T>G (n.*6222T>G)
c.230+13522T>G
c.6930T>G (p.Ser2310=)
c.6825T>G (p.Ser2275=)
c.6816T>G (p.Ser2272=)
c.6777T>G (p.Ser2259=)
c.6723T>G (p.Ser2241=)
c.6627T>G (p.Ser2209=)
c.6597T>G (p.Ser2199=)
c.6522T>G (p.Ser2174=)
c.6420T>G (p.Ser2140=)
c.6051T>G (p.Ser2017=)
dbSNP
5g.112842494T=CA1573485402APCc.6954T= (p.Ser2318=)
c.*6906T= (n.*6906T=)
c.6846T= (p.Ser2282=)
c.6900T= (p.Ser2300=)
c.*6222T= (n.*6222T=)
c.230+13522T=
c.6930T= (p.Ser2310=)
c.6825T= (p.Ser2275=)
c.6816T= (p.Ser2272=)
c.6777T= (p.Ser2259=)
c.6723T= (p.Ser2241=)
c.6627T= (p.Ser2209=)
c.6597T= (p.Ser2199=)
c.6522T= (p.Ser2174=)
c.6420T= (p.Ser2140=)
c.6051T= (p.Ser2017=)
5g.112842495A>CCA446210452APCc.6955A>C (p.Arg2319=)
c.*6907A>C (n.*6907A>C)
c.6847A>C (p.Arg2283=)
c.6901A>C (p.Arg2301=)
c.*6223A>C (n.*6223A>C)
c.230+13523A>C
c.6931A>C (p.Arg2311=)
c.6826A>C (p.Arg2276=)
c.6817A>C (p.Arg2273=)
c.6778A>C (p.Arg2260=)
c.6724A>C (p.Arg2242=)
c.6628A>C (p.Arg2210=)
c.6598A>C (p.Arg2200=)
c.6523A>C (p.Arg2175=)
c.6421A>C (p.Arg2141=)
c.6052A>C (p.Arg2018=)
5g.112842495A>GCA16036387APCc.6955A>G (p.Arg2319Gly)
c.*6907A>G (n.*6907A>G)
c.6847A>G (p.Arg2283Gly)
c.6901A>G (p.Arg2301Gly)
c.*6223A>G (n.*6223A>G)
c.230+13523A>G
c.6931A>G (p.Arg2311Gly)
c.6826A>G (p.Arg2276Gly)
c.6817A>G (p.Arg2273Gly)
c.6778A>G (p.Arg2260Gly)
c.6724A>G (p.Arg2242Gly)
c.6628A>G (p.Arg2210Gly)
c.6598A>G (p.Arg2200Gly)
c.6523A>G (p.Arg2175Gly)
c.6421A>G (p.Arg2141Gly)
c.6052A>G (p.Arg2018Gly)
5g.112842495A>TCA16036388APCc.6955A>T (p.Arg2319Ter)
c.*6907A>T (n.*6907A>T)
c.6847A>T (p.Arg2283Ter)
c.6901A>T (p.Arg2301Ter)
c.*6223A>T (n.*6223A>T)
c.230+13523A>T
c.6931A>T (p.Arg2311Ter)
c.6826A>T (p.Arg2276Ter)
c.6817A>T (p.Arg2273Ter)
c.6778A>T (p.Arg2260Ter)
c.6724A>T (p.Arg2242Ter)
c.6628A>T (p.Arg2210Ter)
c.6598A>T (p.Arg2200Ter)
c.6523A>T (p.Arg2175Ter)
c.6421A>T (p.Arg2141Ter)
c.6052A>T (p.Arg2018Ter)
dbSNP
5g.112842496G>ACA16036389APCc.6956G>A (p.Arg2319Lys)
c.*6908G>A (n.*6908G>A)
c.6848G>A (p.Arg2283Lys)
c.6902G>A (p.Arg2301Lys)
c.*6224G>A (n.*6224G>A)
c.230+13524G>A
c.6932G>A (p.Arg2311Lys)
c.6827G>A (p.Arg2276Lys)
c.6818G>A (p.Arg2273Lys)
c.6779G>A (p.Arg2260Lys)
c.6725G>A (p.Arg2242Lys)
c.6629G>A (p.Arg2210Lys)
c.6599G>A (p.Arg2200Lys)
c.6524G>A (p.Arg2175Lys)
c.6422G>A (p.Arg2141Lys)
c.6053G>A (p.Arg2018Lys)
ClinVar dbSNP
5g.112842496G>CCA16036390APCc.6956G>C (p.Arg2319Thr)
c.*6908G>C (n.*6908G>C)
c.6848G>C (p.Arg2283Thr)
c.6902G>C (p.Arg2301Thr)
c.*6224G>C (n.*6224G>C)
c.230+13524G>C
c.6932G>C (p.Arg2311Thr)
c.6827G>C (p.Arg2276Thr)
c.6818G>C (p.Arg2273Thr)
c.6779G>C (p.Arg2260Thr)
c.6725G>C (p.Arg2242Thr)
c.6629G>C (p.Arg2210Thr)
c.6599G>C (p.Arg2200Thr)
c.6524G>C (p.Arg2175Thr)
c.6422G>C (p.Arg2141Thr)
c.6053G>C (p.Arg2018Thr)
ClinVar dbSNP
5g.112842496G>TCA16036391APCc.6956G>T (p.Arg2319Ile)
c.*6908G>T (n.*6908G>T)
c.6848G>T (p.Arg2283Ile)
c.6902G>T (p.Arg2301Ile)
c.*6224G>T (n.*6224G>T)
c.230+13524G>T
c.6932G>T (p.Arg2311Ile)
c.6827G>T (p.Arg2276Ile)
c.6818G>T (p.Arg2273Ile)
c.6779G>T (p.Arg2260Ile)
c.6725G>T (p.Arg2242Ile)
c.6629G>T (p.Arg2210Ile)
c.6599G>T (p.Arg2200Ile)
c.6524G>T (p.Arg2175Ile)
c.6422G>T (p.Arg2141Ile)
c.6053G>T (p.Arg2018Ile)
dbSNP gnomAD v4
5g.112842497A=CA1573485412APCc.6957A= (p.Arg2319=)
c.*6909A= (n.*6909A=)
c.6849A= (p.Arg2283=)
c.6903A= (p.Arg2301=)
c.*6225A= (n.*6225A=)
c.230+13525A=
c.6933A= (p.Arg2311=)
c.6828A= (p.Arg2276=)
c.6819A= (p.Arg2273=)
c.6780A= (p.Arg2260=)
c.6726A= (p.Arg2242=)
c.6630A= (p.Arg2210=)
c.6600A= (p.Arg2200=)
c.6525A= (p.Arg2175=)
c.6423A= (p.Arg2141=)
c.6054A= (p.Arg2018=)
5g.112842497A>CCA16036392APCc.6957A>C (p.Arg2319Ser)
c.*6909A>C (n.*6909A>C)
c.6849A>C (p.Arg2283Ser)
c.6903A>C (p.Arg2301Ser)
c.*6225A>C (n.*6225A>C)
c.230+13525A>C
c.6933A>C (p.Arg2311Ser)
c.6828A>C (p.Arg2276Ser)
c.6819A>C (p.Arg2273Ser)
c.6780A>C (p.Arg2260Ser)
c.6726A>C (p.Arg2242Ser)
c.6630A>C (p.Arg2210Ser)
c.6600A>C (p.Arg2200Ser)
c.6525A>C (p.Arg2175Ser)
c.6423A>C (p.Arg2141Ser)
c.6054A>C (p.Arg2018Ser)
dbSNP
5g.112842497A>GCA16605190APCc.6957A>G (p.Arg2319=)
c.*6909A>G (n.*6909A>G)
c.6849A>G (p.Arg2283=)
c.6903A>G (p.Arg2301=)
c.*6225A>G (n.*6225A>G)
c.230+13525A>G
c.6933A>G (p.Arg2311=)
c.6828A>G (p.Arg2276=)
c.6819A>G (p.Arg2273=)
c.6780A>G (p.Arg2260=)
c.6726A>G (p.Arg2242=)
c.6630A>G (p.Arg2210=)
c.6600A>G (p.Arg2200=)
c.6525A>G (p.Arg2175=)
c.6423A>G (p.Arg2141=)
c.6054A>G (p.Arg2018=)
ClinVar dbSNP gnomAD v4
5g.112842497A>TCA16036393APCc.6957A>T (p.Arg2319Ser)
c.*6909A>T (n.*6909A>T)
c.6849A>T (p.Arg2283Ser)
c.6903A>T (p.Arg2301Ser)
c.*6225A>T (n.*6225A>T)
c.230+13525A>T
c.6933A>T (p.Arg2311Ser)
c.6828A>T (p.Arg2276Ser)
c.6819A>T (p.Arg2273Ser)
c.6780A>T (p.Arg2260Ser)
c.6726A>T (p.Arg2242Ser)
c.6630A>T (p.Arg2210Ser)
c.6600A>T (p.Arg2200Ser)
c.6525A>T (p.Arg2175Ser)
c.6423A>T (p.Arg2141Ser)
c.6054A>T (p.Arg2018Ser)
dbSNP
5g.112842498T>ACA16036394APCc.6958T>A (p.Ser2320Thr)
c.*6910T>A (n.*6910T>A)
c.6850T>A (p.Ser2284Thr)
c.6904T>A (p.Ser2302Thr)
c.*6226T>A (n.*6226T>A)
c.230+13526T>A
c.6934T>A (p.Ser2312Thr)
c.6829T>A (p.Ser2277Thr)
c.6820T>A (p.Ser2274Thr)
c.6781T>A (p.Ser2261Thr)
c.6727T>A (p.Ser2243Thr)
c.6631T>A (p.Ser2211Thr)
c.6601T>A (p.Ser2201Thr)
c.6526T>A (p.Ser2176Thr)
c.6424T>A (p.Ser2142Thr)
c.6055T>A (p.Ser2019Thr)
dbSNP
5g.112842498T>CCA16036395APCc.6958T>C (p.Ser2320Pro)
c.*6910T>C (n.*6910T>C)
c.6850T>C (p.Ser2284Pro)
c.6904T>C (p.Ser2302Pro)
c.*6226T>C (n.*6226T>C)
c.230+13526T>C
c.6934T>C (p.Ser2312Pro)
c.6829T>C (p.Ser2277Pro)
c.6820T>C (p.Ser2274Pro)
c.6781T>C (p.Ser2261Pro)
c.6727T>C (p.Ser2243Pro)
c.6631T>C (p.Ser2211Pro)
c.6601T>C (p.Ser2201Pro)
c.6526T>C (p.Ser2176Pro)
c.6424T>C (p.Ser2142Pro)
c.6055T>C (p.Ser2019Pro)
dbSNP
5g.112842498T>GCA16036396APCc.6958T>G (p.Ser2320Ala)
c.*6910T>G (n.*6910T>G)
c.6850T>G (p.Ser2284Ala)
c.6904T>G (p.Ser2302Ala)
c.*6226T>G (n.*6226T>G)
c.230+13526T>G
c.6934T>G (p.Ser2312Ala)
c.6829T>G (p.Ser2277Ala)
c.6820T>G (p.Ser2274Ala)
c.6781T>G (p.Ser2261Ala)
c.6727T>G (p.Ser2243Ala)
c.6631T>G (p.Ser2211Ala)
c.6601T>G (p.Ser2201Ala)
c.6526T>G (p.Ser2176Ala)
c.6424T>G (p.Ser2142Ala)
c.6055T>G (p.Ser2019Ala)
dbSNP
5g.112842499C>ACA16036397APCc.6959C>A (p.Ser2320Ter)
c.*6911C>A (n.*6911C>A)
c.6851C>A (p.Ser2284Ter)
c.6905C>A (p.Ser2302Ter)
c.*6227C>A (n.*6227C>A)
c.230+13527C>A
c.6935C>A (p.Ser2312Ter)
c.6830C>A (p.Ser2277Ter)
c.6821C>A (p.Ser2274Ter)
c.6782C>A (p.Ser2261Ter)
c.6728C>A (p.Ser2243Ter)
c.6632C>A (p.Ser2211Ter)
c.6602C>A (p.Ser2201Ter)
c.6527C>A (p.Ser2176Ter)
c.6425C>A (p.Ser2142Ter)
c.6056C>A (p.Ser2019Ter)
dbSNP
5g.112842499C=CA1573485418APCc.6959C= (p.Ser2320=)
c.*6911C= (n.*6911C=)
c.6851C= (p.Ser2284=)
c.6905C= (p.Ser2302=)
c.*6227C= (n.*6227C=)
c.230+13527C=
c.6935C= (p.Ser2312=)
c.6830C= (p.Ser2277=)
c.6821C= (p.Ser2274=)
c.6782C= (p.Ser2261=)
c.6728C= (p.Ser2243=)
c.6632C= (p.Ser2211=)
c.6602C= (p.Ser2201=)
c.6527C= (p.Ser2176=)
c.6425C= (p.Ser2142=)
c.6056C= (p.Ser2019=)
5g.112842499C>GCA046422APCc.6959C>G (p.Ser2320Ter)
c.*6911C>G (n.*6911C>G)
c.6851C>G (p.Ser2284Ter)
c.6905C>G (p.Ser2302Ter)
c.*6227C>G (n.*6227C>G)
c.230+13527C>G
c.6935C>G (p.Ser2312Ter)
c.6830C>G (p.Ser2277Ter)
c.6821C>G (p.Ser2274Ter)
c.6782C>G (p.Ser2261Ter)
c.6728C>G (p.Ser2243Ter)
c.6632C>G (p.Ser2211Ter)
c.6602C>G (p.Ser2201Ter)
c.6527C>G (p.Ser2176Ter)
c.6425C>G (p.Ser2142Ter)
c.6056C>G (p.Ser2019Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842499C>TCA16036398APCc.6959C>T (p.Ser2320Leu)
c.*6911C>T (n.*6911C>T)
c.6851C>T (p.Ser2284Leu)
c.6905C>T (p.Ser2302Leu)
c.*6227C>T (n.*6227C>T)
c.230+13527C>T
c.6935C>T (p.Ser2312Leu)
c.6830C>T (p.Ser2277Leu)
c.6821C>T (p.Ser2274Leu)
c.6782C>T (p.Ser2261Leu)
c.6728C>T (p.Ser2243Leu)
c.6632C>T (p.Ser2211Leu)
c.6602C>T (p.Ser2201Leu)
c.6527C>T (p.Ser2176Leu)
c.6425C>T (p.Ser2142Leu)
c.6056C>T (p.Ser2019Leu)
dbSNP COSMIC
5g.112842500A=CA1573485425APCc.6960A= (p.Ser2320=)
c.*6912A= (n.*6912A=)
c.6852A= (p.Ser2284=)
c.6906A= (p.Ser2302=)
c.*6228A= (n.*6228A=)
c.230+13528A=
c.6936A= (p.Ser2312=)
c.6831A= (p.Ser2277=)
c.6822A= (p.Ser2274=)
c.6783A= (p.Ser2261=)
c.6729A= (p.Ser2243=)
c.6633A= (p.Ser2211=)
c.6603A= (p.Ser2201=)
c.6528A= (p.Ser2176=)
c.6426A= (p.Ser2142=)
c.6057A= (p.Ser2019=)
5g.112842500A>CCA446210461APCc.6960A>C (p.Ser2320=)
c.*6912A>C (n.*6912A>C)
c.6852A>C (p.Ser2284=)
c.6906A>C (p.Ser2302=)
c.*6228A>C (n.*6228A>C)
c.230+13528A>C
c.6936A>C (p.Ser2312=)
c.6831A>C (p.Ser2277=)
c.6822A>C (p.Ser2274=)
c.6783A>C (p.Ser2261=)
c.6729A>C (p.Ser2243=)
c.6633A>C (p.Ser2211=)
c.6603A>C (p.Ser2201=)
c.6528A>C (p.Ser2176=)
c.6426A>C (p.Ser2142=)
c.6057A>C (p.Ser2019=)
ClinVar dbSNP
5g.112842500A>GCA446210462APCc.6960A>G (p.Ser2320=)
c.*6912A>G (n.*6912A>G)
c.6852A>G (p.Ser2284=)
c.6906A>G (p.Ser2302=)
c.*6228A>G (n.*6228A>G)
c.230+13528A>G
c.6936A>G (p.Ser2312=)
c.6831A>G (p.Ser2277=)
c.6822A>G (p.Ser2274=)
c.6783A>G (p.Ser2261=)
c.6729A>G (p.Ser2243=)
c.6633A>G (p.Ser2211=)
c.6603A>G (p.Ser2201=)
c.6528A>G (p.Ser2176=)
c.6426A>G (p.Ser2142=)
c.6057A>G (p.Ser2019=)
dbSNP gnomAD v4
5g.112842500A>TCA446210463APCc.6960A>T (p.Ser2320=)
c.*6912A>T (n.*6912A>T)
c.6852A>T (p.Ser2284=)
c.6906A>T (p.Ser2302=)
c.*6228A>T (n.*6228A>T)
c.230+13528A>T
c.6936A>T (p.Ser2312=)
c.6831A>T (p.Ser2277=)
c.6822A>T (p.Ser2274=)
c.6783A>T (p.Ser2261=)
c.6729A>T (p.Ser2243=)
c.6633A>T (p.Ser2211=)
c.6603A>T (p.Ser2201=)
c.6528A>T (p.Ser2176=)
c.6426A>T (p.Ser2142=)
c.6057A>T (p.Ser2019=)
ClinVar dbSNP gnomAD v4
5g.112842501G>ACA012645APCc.6961G>A (p.Gly2321Arg)
c.*6913G>A (n.*6913G>A)
c.6853G>A (p.Gly2285Arg)
c.6907G>A (p.Gly2303Arg)
c.*6229G>A (n.*6229G>A)
c.230+13529G>A
c.6937G>A (p.Gly2313Arg)
c.6832G>A (p.Gly2278Arg)
c.6823G>A (p.Gly2275Arg)
c.6784G>A (p.Gly2262Arg)
c.6730G>A (p.Gly2244Arg)
c.6634G>A (p.Gly2212Arg)
c.6604G>A (p.Gly2202Arg)
c.6529G>A (p.Gly2177Arg)
c.6427G>A (p.Gly2143Arg)
c.6058G>A (p.Gly2020Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842501G>CCA16036399APCc.6961G>C (p.Gly2321Arg)
c.*6913G>C (n.*6913G>C)
c.6853G>C (p.Gly2285Arg)
c.6907G>C (p.Gly2303Arg)
c.*6229G>C (n.*6229G>C)
c.230+13529G>C
c.6937G>C (p.Gly2313Arg)
c.6832G>C (p.Gly2278Arg)
c.6823G>C (p.Gly2275Arg)
c.6784G>C (p.Gly2262Arg)
c.6730G>C (p.Gly2244Arg)
c.6634G>C (p.Gly2212Arg)
c.6604G>C (p.Gly2202Arg)
c.6529G>C (p.Gly2177Arg)
c.6427G>C (p.Gly2143Arg)
c.6058G>C (p.Gly2020Arg)
5g.112842501G=CA1573485438APCc.6961G= (p.Gly2321=)
c.*6913G= (n.*6913G=)
c.6853G= (p.Gly2285=)
c.6907G= (p.Gly2303=)
c.*6229G= (n.*6229G=)
c.230+13529G=
c.6937G= (p.Gly2313=)
c.6832G= (p.Gly2278=)
c.6823G= (p.Gly2275=)
c.6784G= (p.Gly2262=)
c.6730G= (p.Gly2244=)
c.6634G= (p.Gly2212=)
c.6604G= (p.Gly2202=)
c.6529G= (p.Gly2177=)
c.6427G= (p.Gly2143=)
c.6058G= (p.Gly2020=)
5g.112842501G>TCA16036400APCc.6961G>T (p.Gly2321Ter)
c.*6913G>T (n.*6913G>T)
c.6853G>T (p.Gly2285Ter)
c.6907G>T (p.Gly2303Ter)
c.*6229G>T (n.*6229G>T)
c.230+13529G>T
c.6937G>T (p.Gly2313Ter)
c.6832G>T (p.Gly2278Ter)
c.6823G>T (p.Gly2275Ter)
c.6784G>T (p.Gly2262Ter)
c.6730G>T (p.Gly2244Ter)
c.6634G>T (p.Gly2212Ter)
c.6604G>T (p.Gly2202Ter)
c.6529G>T (p.Gly2177Ter)
c.6427G>T (p.Gly2143Ter)
c.6058G>T (p.Gly2020Ter)
ClinVar dbSNP
5g.112842502G>ACA16036401APCc.6962G>A (p.Gly2321Glu)
c.*6914G>A (n.*6914G>A)
c.6854G>A (p.Gly2285Glu)
c.6908G>A (p.Gly2303Glu)
c.*6230G>A (n.*6230G>A)
c.230+13530G>A
c.6938G>A (p.Gly2313Glu)
c.6833G>A (p.Gly2278Glu)
c.6824G>A (p.Gly2275Glu)
c.6785G>A (p.Gly2262Glu)
c.6731G>A (p.Gly2244Glu)
c.6635G>A (p.Gly2212Glu)
c.6605G>A (p.Gly2202Glu)
c.6530G>A (p.Gly2177Glu)
c.6428G>A (p.Gly2143Glu)
c.6059G>A (p.Gly2020Glu)
ClinVar dbSNP gnomAD v4
5g.112842502G>CCA16036402APCc.6962G>C (p.Gly2321Ala)
c.*6914G>C (n.*6914G>C)
c.6854G>C (p.Gly2285Ala)
c.6908G>C (p.Gly2303Ala)
c.*6230G>C (n.*6230G>C)
c.230+13530G>C
c.6938G>C (p.Gly2313Ala)
c.6833G>C (p.Gly2278Ala)
c.6824G>C (p.Gly2275Ala)
c.6785G>C (p.Gly2262Ala)
c.6731G>C (p.Gly2244Ala)
c.6635G>C (p.Gly2212Ala)
c.6605G>C (p.Gly2202Ala)
c.6530G>C (p.Gly2177Ala)
c.6428G>C (p.Gly2143Ala)
c.6059G>C (p.Gly2020Ala)
ClinVar dbSNP
5g.112842502G>TCA16036403APCc.6962G>T (p.Gly2321Val)
c.*6914G>T (n.*6914G>T)
c.6854G>T (p.Gly2285Val)
c.6908G>T (p.Gly2303Val)
c.*6230G>T (n.*6230G>T)
c.230+13530G>T
c.6938G>T (p.Gly2313Val)
c.6833G>T (p.Gly2278Val)
c.6824G>T (p.Gly2275Val)
c.6785G>T (p.Gly2262Val)
c.6731G>T (p.Gly2244Val)
c.6635G>T (p.Gly2212Val)
c.6605G>T (p.Gly2202Val)
c.6530G>T (p.Gly2177Val)
c.6428G>T (p.Gly2143Val)
c.6059G>T (p.Gly2020Val)
dbSNP
5g.112842503A>CCA446210468APCc.6963A>C (p.Gly2321=)
c.*6915A>C (n.*6915A>C)
c.6855A>C (p.Gly2285=)
c.6909A>C (p.Gly2303=)
c.*6231A>C (n.*6231A>C)
c.230+13531A>C
c.6939A>C (p.Gly2313=)
c.6834A>C (p.Gly2278=)
c.6825A>C (p.Gly2275=)
c.6786A>C (p.Gly2262=)
c.6732A>C (p.Gly2244=)
c.6636A>C (p.Gly2212=)
c.6606A>C (p.Gly2202=)
c.6531A>C (p.Gly2177=)
c.6429A>C (p.Gly2143=)
c.6060A>C (p.Gly2020=)
5g.112842503A>GCA446210470APCc.6963A>G (p.Gly2321=)
c.*6915A>G (n.*6915A>G)
c.6855A>G (p.Gly2285=)
c.6909A>G (p.Gly2303=)
c.*6231A>G (n.*6231A>G)
c.230+13531A>G
c.6939A>G (p.Gly2313=)
c.6834A>G (p.Gly2278=)
c.6825A>G (p.Gly2275=)
c.6786A>G (p.Gly2262=)
c.6732A>G (p.Gly2244=)
c.6636A>G (p.Gly2212=)
c.6606A>G (p.Gly2202=)
c.6531A>G (p.Gly2177=)
c.6429A>G (p.Gly2143=)
c.6060A>G (p.Gly2020=)
5g.112842503A>TCA446210469APCc.6963A>T (p.Gly2321=)
c.*6915A>T (n.*6915A>T)
c.6855A>T (p.Gly2285=)
c.6909A>T (p.Gly2303=)
c.*6231A>T (n.*6231A>T)
c.230+13531A>T
c.6939A>T (p.Gly2313=)
c.6834A>T (p.Gly2278=)
c.6825A>T (p.Gly2275=)
c.6786A>T (p.Gly2262=)
c.6732A>T (p.Gly2244=)
c.6636A>T (p.Gly2212=)
c.6606A>T (p.Gly2202=)
c.6531A>T (p.Gly2177=)
c.6429A>T (p.Gly2143=)
c.6060A>T (p.Gly2020=)
5g.112842504T>ACA16036404APCc.6964T>A (p.Ser2322Thr)
c.*6916T>A (n.*6916T>A)
c.6856T>A (p.Ser2286Thr)
c.6910T>A (p.Ser2304Thr)
c.*6232T>A (n.*6232T>A)
c.230+13532T>A
c.6940T>A (p.Ser2314Thr)
c.6835T>A (p.Ser2279Thr)
c.6826T>A (p.Ser2276Thr)
c.6787T>A (p.Ser2263Thr)
c.6733T>A (p.Ser2245Thr)
c.6637T>A (p.Ser2213Thr)
c.6607T>A (p.Ser2203Thr)
c.6532T>A (p.Ser2178Thr)
c.6430T>A (p.Ser2144Thr)
c.6061T>A (p.Ser2021Thr)
dbSNP
5g.112842504T>CCA16036405APCc.6964T>C (p.Ser2322Pro)
c.*6916T>C (n.*6916T>C)
c.6856T>C (p.Ser2286Pro)
c.6910T>C (p.Ser2304Pro)
c.*6232T>C (n.*6232T>C)
c.230+13532T>C
c.6940T>C (p.Ser2314Pro)
c.6835T>C (p.Ser2279Pro)
c.6826T>C (p.Ser2276Pro)
c.6787T>C (p.Ser2263Pro)
c.6733T>C (p.Ser2245Pro)
c.6637T>C (p.Ser2213Pro)
c.6607T>C (p.Ser2203Pro)
c.6532T>C (p.Ser2178Pro)
c.6430T>C (p.Ser2144Pro)
c.6061T>C (p.Ser2021Pro)
ClinVar dbSNP gnomAD v4
5g.112842504T>GCA16036406APCc.6964T>G (p.Ser2322Ala)
c.*6916T>G (n.*6916T>G)
c.6856T>G (p.Ser2286Ala)
c.6910T>G (p.Ser2304Ala)
c.*6232T>G (n.*6232T>G)
c.230+13532T>G
c.6940T>G (p.Ser2314Ala)
c.6835T>G (p.Ser2279Ala)
c.6826T>G (p.Ser2276Ala)
c.6787T>G (p.Ser2263Ala)
c.6733T>G (p.Ser2245Ala)
c.6637T>G (p.Ser2213Ala)
c.6607T>G (p.Ser2203Ala)
c.6532T>G (p.Ser2178Ala)
c.6430T>G (p.Ser2144Ala)
c.6061T>G (p.Ser2021Ala)
dbSNP
5g.112842505C>ACA16036407APCc.6965C>A (p.Ser2322Tyr)
c.*6917C>A (n.*6917C>A)
c.6857C>A (p.Ser2286Tyr)
c.6911C>A (p.Ser2304Tyr)
c.*6233C>A (n.*6233C>A)
c.230+13533C>A
c.6941C>A (p.Ser2314Tyr)
c.6836C>A (p.Ser2279Tyr)
c.6827C>A (p.Ser2276Tyr)
c.6788C>A (p.Ser2263Tyr)
c.6734C>A (p.Ser2245Tyr)
c.6638C>A (p.Ser2213Tyr)
c.6608C>A (p.Ser2203Tyr)
c.6533C>A (p.Ser2178Tyr)
c.6431C>A (p.Ser2144Tyr)
c.6062C>A (p.Ser2021Tyr)
ClinVar dbSNP
5g.112842505C>GCA16036408APCc.6965C>G (p.Ser2322Cys)
c.*6917C>G (n.*6917C>G)
c.6857C>G (p.Ser2286Cys)
c.6911C>G (p.Ser2304Cys)
c.*6233C>G (n.*6233C>G)
c.230+13533C>G
c.6941C>G (p.Ser2314Cys)
c.6836C>G (p.Ser2279Cys)
c.6827C>G (p.Ser2276Cys)
c.6788C>G (p.Ser2263Cys)
c.6734C>G (p.Ser2245Cys)
c.6638C>G (p.Ser2213Cys)
c.6608C>G (p.Ser2203Cys)
c.6533C>G (p.Ser2178Cys)
c.6431C>G (p.Ser2144Cys)
c.6062C>G (p.Ser2021Cys)
ClinVar dbSNP
5g.112842505C>TCA16036409APCc.6965C>T (p.Ser2322Phe)
c.*6917C>T (n.*6917C>T)
c.6857C>T (p.Ser2286Phe)
c.6911C>T (p.Ser2304Phe)
c.*6233C>T (n.*6233C>T)
c.230+13533C>T
c.6941C>T (p.Ser2314Phe)
c.6836C>T (p.Ser2279Phe)
c.6827C>T (p.Ser2276Phe)
c.6788C>T (p.Ser2263Phe)
c.6734C>T (p.Ser2245Phe)
c.6638C>T (p.Ser2213Phe)
c.6608C>T (p.Ser2203Phe)
c.6533C>T (p.Ser2178Phe)
c.6431C>T (p.Ser2144Phe)
c.6062C>T (p.Ser2021Phe)
dbSNP
5g.112842506T>ACA446210480APCc.6966T>A (p.Ser2322=)
c.*6918T>A (n.*6918T>A)
c.6858T>A (p.Ser2286=)
c.6912T>A (p.Ser2304=)
c.*6234T>A (n.*6234T>A)
c.230+13534T>A
c.6942T>A (p.Ser2314=)
c.6837T>A (p.Ser2279=)
c.6828T>A (p.Ser2276=)
c.6789T>A (p.Ser2263=)
c.6735T>A (p.Ser2245=)
c.6639T>A (p.Ser2213=)
c.6609T>A (p.Ser2203=)
c.6534T>A (p.Ser2178=)
c.6432T>A (p.Ser2144=)
c.6063T>A (p.Ser2021=)
5g.112842506T>CCA446210479APCc.6966T>C (p.Ser2322=)
c.*6918T>C (n.*6918T>C)
c.6858T>C (p.Ser2286=)
c.6912T>C (p.Ser2304=)
c.*6234T>C (n.*6234T>C)
c.230+13534T>C
c.6942T>C (p.Ser2314=)
c.6837T>C (p.Ser2279=)
c.6828T>C (p.Ser2276=)
c.6789T>C (p.Ser2263=)
c.6735T>C (p.Ser2245=)
c.6639T>C (p.Ser2213=)
c.6609T>C (p.Ser2203=)
c.6534T>C (p.Ser2178=)
c.6432T>C (p.Ser2144=)
c.6063T>C (p.Ser2021=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842506T>GCA446210478APCc.6966T>G (p.Ser2322=)
c.*6918T>G (n.*6918T>G)
c.6858T>G (p.Ser2286=)
c.6912T>G (p.Ser2304=)
c.*6234T>G (n.*6234T>G)
c.230+13534T>G
c.6942T>G (p.Ser2314=)
c.6837T>G (p.Ser2279=)
c.6828T>G (p.Ser2276=)
c.6789T>G (p.Ser2263=)
c.6735T>G (p.Ser2245=)
c.6639T>G (p.Ser2213=)
c.6609T>G (p.Ser2203=)
c.6534T>G (p.Ser2178=)
c.6432T>G (p.Ser2144=)
c.6063T>G (p.Ser2021=)
5g.112842506T=CA1573485445APCc.6966T= (p.Ser2322=)
c.*6918T= (n.*6918T=)
c.6858T= (p.Ser2286=)
c.6912T= (p.Ser2304=)
c.*6234T= (n.*6234T=)
c.230+13534T=
c.6942T= (p.Ser2314=)
c.6837T= (p.Ser2279=)
c.6828T= (p.Ser2276=)
c.6789T= (p.Ser2263=)
c.6735T= (p.Ser2245=)
c.6639T= (p.Ser2213=)
c.6609T= (p.Ser2203=)
c.6534T= (p.Ser2178=)
c.6432T= (p.Ser2144=)
c.6063T= (p.Ser2021=)
5g.112842507A=CA1573485466APCc.6967A= (p.Arg2323=)
c.*6919A= (n.*6919A=)
c.6859A= (p.Arg2287=)
c.6913A= (p.Arg2305=)
c.*6235A= (n.*6235A=)
c.230+13535A=
c.6943A= (p.Arg2315=)
c.6838A= (p.Arg2280=)
c.6829A= (p.Arg2277=)
c.6790A= (p.Arg2264=)
c.6736A= (p.Arg2246=)
c.6640A= (p.Arg2214=)
c.6610A= (p.Arg2204=)
c.6535A= (p.Arg2179=)
c.6433A= (p.Arg2145=)
c.6064A= (p.Arg2022=)
5g.112842507A>CCA446210482APCc.6967A>C (p.Arg2323=)
c.*6919A>C (n.*6919A>C)
c.6859A>C (p.Arg2287=)
c.6913A>C (p.Arg2305=)
c.*6235A>C (n.*6235A>C)
c.230+13535A>C
c.6943A>C (p.Arg2315=)
c.6838A>C (p.Arg2280=)
c.6829A>C (p.Arg2277=)
c.6790A>C (p.Arg2264=)
c.6736A>C (p.Arg2246=)
c.6640A>C (p.Arg2214=)
c.6610A>C (p.Arg2204=)
c.6535A>C (p.Arg2179=)
c.6433A>C (p.Arg2145=)
c.6064A>C (p.Arg2022=)
ClinVar
5g.112842507A>GCA16036410APCc.6967A>G (p.Arg2323Gly)
c.*6919A>G (n.*6919A>G)
c.6859A>G (p.Arg2287Gly)
c.6913A>G (p.Arg2305Gly)
c.*6235A>G (n.*6235A>G)
c.230+13535A>G
c.6943A>G (p.Arg2315Gly)
c.6838A>G (p.Arg2280Gly)
c.6829A>G (p.Arg2277Gly)
c.6790A>G (p.Arg2264Gly)
c.6736A>G (p.Arg2246Gly)
c.6640A>G (p.Arg2214Gly)
c.6610A>G (p.Arg2204Gly)
c.6535A>G (p.Arg2179Gly)
c.6433A>G (p.Arg2145Gly)
c.6064A>G (p.Arg2022Gly)
ClinVar dbSNP gnomAD v4
5g.112842507A>TCA16036411APCc.6967A>T (p.Arg2323Ter)
c.*6919A>T (n.*6919A>T)
c.6859A>T (p.Arg2287Ter)
c.6913A>T (p.Arg2305Ter)
c.*6235A>T (n.*6235A>T)
c.230+13535A>T
c.6943A>T (p.Arg2315Ter)
c.6838A>T (p.Arg2280Ter)
c.6829A>T (p.Arg2277Ter)
c.6790A>T (p.Arg2264Ter)
c.6736A>T (p.Arg2246Ter)
c.6640A>T (p.Arg2214Ter)
c.6610A>T (p.Arg2204Ter)
c.6535A>T (p.Arg2179Ter)
c.6433A>T (p.Arg2145Ter)
c.6064A>T (p.Arg2022Ter)
dbSNP
5g.112842508G>ACA16036412APCc.6968G>A (p.Arg2323Lys)
c.*6920G>A (n.*6920G>A)
c.6860G>A (p.Arg2287Lys)
c.6914G>A (p.Arg2305Lys)
c.*6236G>A (n.*6236G>A)
c.230+13536G>A
c.6944G>A (p.Arg2315Lys)
c.6839G>A (p.Arg2280Lys)
c.6830G>A (p.Arg2277Lys)
c.6791G>A (p.Arg2264Lys)
c.6737G>A (p.Arg2246Lys)
c.6641G>A (p.Arg2214Lys)
c.6611G>A (p.Arg2204Lys)
c.6536G>A (p.Arg2179Lys)
c.6434G>A (p.Arg2145Lys)
c.6065G>A (p.Arg2022Lys)
dbSNP
5g.112842508G>CCA16036413APCc.6968G>C (p.Arg2323Thr)
c.*6920G>C (n.*6920G>C)
c.6860G>C (p.Arg2287Thr)
c.6914G>C (p.Arg2305Thr)
c.*6236G>C (n.*6236G>C)
c.230+13536G>C
c.6944G>C (p.Arg2315Thr)
c.6839G>C (p.Arg2280Thr)
c.6830G>C (p.Arg2277Thr)
c.6791G>C (p.Arg2264Thr)
c.6737G>C (p.Arg2246Thr)
c.6641G>C (p.Arg2214Thr)
c.6611G>C (p.Arg2204Thr)
c.6536G>C (p.Arg2179Thr)
c.6434G>C (p.Arg2145Thr)
c.6065G>C (p.Arg2022Thr)
ClinVar dbSNP COSMIC
5g.112842508G=CA1573485475APCc.6968G= (p.Arg2323=)
c.*6920G= (n.*6920G=)
c.6860G= (p.Arg2287=)
c.6914G= (p.Arg2305=)
c.*6236G= (n.*6236G=)
c.230+13536G=
c.6944G= (p.Arg2315=)
c.6839G= (p.Arg2280=)
c.6830G= (p.Arg2277=)
c.6791G= (p.Arg2264=)
c.6737G= (p.Arg2246=)
c.6641G= (p.Arg2214=)
c.6611G= (p.Arg2204=)
c.6536G= (p.Arg2179=)
c.6434G= (p.Arg2145=)
c.6065G= (p.Arg2022=)
5g.112842508G>TCA16036414APCc.6968G>T (p.Arg2323Ile)
c.*6920G>T (n.*6920G>T)
c.6860G>T (p.Arg2287Ile)
c.6914G>T (p.Arg2305Ile)
c.*6236G>T (n.*6236G>T)
c.230+13536G>T
c.6944G>T (p.Arg2315Ile)
c.6839G>T (p.Arg2280Ile)
c.6830G>T (p.Arg2277Ile)
c.6791G>T (p.Arg2264Ile)
c.6737G>T (p.Arg2246Ile)
c.6641G>T (p.Arg2214Ile)
c.6611G>T (p.Arg2204Ile)
c.6536G>T (p.Arg2179Ile)
c.6434G>T (p.Arg2145Ile)
c.6065G>T (p.Arg2022Ile)
dbSNP
5g.112842509A>CCA16036415APCc.6969A>C (p.Arg2323Ser)
c.*6921A>C (n.*6921A>C)
c.6861A>C (p.Arg2287Ser)
c.6915A>C (p.Arg2305Ser)
c.*6237A>C (n.*6237A>C)
c.230+13537A>C
c.6945A>C (p.Arg2315Ser)
c.6840A>C (p.Arg2280Ser)
c.6831A>C (p.Arg2277Ser)
c.6792A>C (p.Arg2264Ser)
c.6738A>C (p.Arg2246Ser)
c.6642A>C (p.Arg2214Ser)
c.6612A>C (p.Arg2204Ser)
c.6537A>C (p.Arg2179Ser)
c.6435A>C (p.Arg2145Ser)
c.6066A>C (p.Arg2022Ser)
ClinVar
5g.112842509A>GCA446210488APCc.6969A>G (p.Arg2323=)
c.*6921A>G (n.*6921A>G)
c.6861A>G (p.Arg2287=)
c.6915A>G (p.Arg2305=)
c.*6237A>G (n.*6237A>G)
c.230+13537A>G
c.6945A>G (p.Arg2315=)
c.6840A>G (p.Arg2280=)
c.6831A>G (p.Arg2277=)
c.6792A>G (p.Arg2264=)
c.6738A>G (p.Arg2246=)
c.6642A>G (p.Arg2214=)
c.6612A>G (p.Arg2204=)
c.6537A>G (p.Arg2179=)
c.6435A>G (p.Arg2145=)
c.6066A>G (p.Arg2022=)
dbSNP
5g.112842509A>TCA16036416APCc.6969A>T (p.Arg2323Ser)
c.*6921A>T (n.*6921A>T)
c.6861A>T (p.Arg2287Ser)
c.6915A>T (p.Arg2305Ser)
c.*6237A>T (n.*6237A>T)
c.230+13537A>T
c.6945A>T (p.Arg2315Ser)
c.6840A>T (p.Arg2280Ser)
c.6831A>T (p.Arg2277Ser)
c.6792A>T (p.Arg2264Ser)
c.6738A>T (p.Arg2246Ser)
c.6642A>T (p.Arg2214Ser)
c.6612A>T (p.Arg2204Ser)
c.6537A>T (p.Arg2179Ser)
c.6435A>T (p.Arg2145Ser)
c.6066A>T (p.Arg2022Ser)
5g.112842510G>ACA16036417APCc.6970G>A (p.Asp2324Asn)
c.*6922G>A (n.*6922G>A)
c.6862G>A (p.Asp2288Asn)
c.6916G>A (p.Asp2306Asn)
c.*6238G>A (n.*6238G>A)
c.230+13538G>A
c.6946G>A (p.Asp2316Asn)
c.6841G>A (p.Asp2281Asn)
c.6832G>A (p.Asp2278Asn)
c.6793G>A (p.Asp2265Asn)
c.6739G>A (p.Asp2247Asn)
c.6643G>A (p.Asp2215Asn)
c.6613G>A (p.Asp2205Asn)
c.6538G>A (p.Asp2180Asn)
c.6436G>A (p.Asp2146Asn)
c.6067G>A (p.Asp2023Asn)
dbSNP
5g.112842510G>CCA16036418APCc.6970G>C (p.Asp2324His)
c.*6922G>C (n.*6922G>C)
c.6862G>C (p.Asp2288His)
c.6916G>C (p.Asp2306His)
c.*6238G>C (n.*6238G>C)
c.230+13538G>C
c.6946G>C (p.Asp2316His)
c.6841G>C (p.Asp2281His)
c.6832G>C (p.Asp2278His)
c.6793G>C (p.Asp2265His)
c.6739G>C (p.Asp2247His)
c.6643G>C (p.Asp2215His)
c.6613G>C (p.Asp2205His)
c.6538G>C (p.Asp2180His)
c.6436G>C (p.Asp2146His)
c.6067G>C (p.Asp2023His)
dbSNP
5g.112842510G>TCA16036419APCc.6970G>T (p.Asp2324Tyr)
c.*6922G>T (n.*6922G>T)
c.6862G>T (p.Asp2288Tyr)
c.6916G>T (p.Asp2306Tyr)
c.*6238G>T (n.*6238G>T)
c.230+13538G>T
c.6946G>T (p.Asp2316Tyr)
c.6841G>T (p.Asp2281Tyr)
c.6832G>T (p.Asp2278Tyr)
c.6793G>T (p.Asp2265Tyr)
c.6739G>T (p.Asp2247Tyr)
c.6643G>T (p.Asp2215Tyr)
c.6613G>T (p.Asp2205Tyr)
c.6538G>T (p.Asp2180Tyr)
c.6436G>T (p.Asp2146Tyr)
c.6067G>T (p.Asp2023Tyr)
dbSNP
5g.112842511A=CA1573485489APCc.6971A= (p.Asp2324=)
c.*6923A= (n.*6923A=)
c.6863A= (p.Asp2288=)
c.6917A= (p.Asp2306=)
c.*6239A= (n.*6239A=)
c.230+13539A=
c.6947A= (p.Asp2316=)
c.6842A= (p.Asp2281=)
c.6833A= (p.Asp2278=)
c.6794A= (p.Asp2265=)
c.6740A= (p.Asp2247=)
c.6644A= (p.Asp2215=)
c.6614A= (p.Asp2205=)
c.6539A= (p.Asp2180=)
c.6437A= (p.Asp2146=)
c.6068A= (p.Asp2023=)
5g.112842511A>CCA16036420APCc.6971A>C (p.Asp2324Ala)
c.*6923A>C (n.*6923A>C)
c.6863A>C (p.Asp2288Ala)
c.6917A>C (p.Asp2306Ala)
c.*6239A>C (n.*6239A>C)
c.230+13539A>C
c.6947A>C (p.Asp2316Ala)
c.6842A>C (p.Asp2281Ala)
c.6833A>C (p.Asp2278Ala)
c.6794A>C (p.Asp2265Ala)
c.6740A>C (p.Asp2247Ala)
c.6644A>C (p.Asp2215Ala)
c.6614A>C (p.Asp2205Ala)
c.6539A>C (p.Asp2180Ala)
c.6437A>C (p.Asp2146Ala)
c.6068A>C (p.Asp2023Ala)
dbSNP
5g.112842511A>GCA046448APCc.6971A>G (p.Asp2324Gly)
c.*6923A>G (n.*6923A>G)
c.6863A>G (p.Asp2288Gly)
c.6917A>G (p.Asp2306Gly)
c.*6239A>G (n.*6239A>G)
c.230+13539A>G
c.6947A>G (p.Asp2316Gly)
c.6842A>G (p.Asp2281Gly)
c.6833A>G (p.Asp2278Gly)
c.6794A>G (p.Asp2265Gly)
c.6740A>G (p.Asp2247Gly)
c.6644A>G (p.Asp2215Gly)
c.6614A>G (p.Asp2205Gly)
c.6539A>G (p.Asp2180Gly)
c.6437A>G (p.Asp2146Gly)
c.6068A>G (p.Asp2023Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842511A>TCA16036421APCc.6971A>T (p.Asp2324Val)
c.*6923A>T (n.*6923A>T)
c.6863A>T (p.Asp2288Val)
c.6917A>T (p.Asp2306Val)
c.*6239A>T (n.*6239A>T)
c.230+13539A>T
c.6947A>T (p.Asp2316Val)
c.6842A>T (p.Asp2281Val)
c.6833A>T (p.Asp2278Val)
c.6794A>T (p.Asp2265Val)
c.6740A>T (p.Asp2247Val)
c.6644A>T (p.Asp2215Val)
c.6614A>T (p.Asp2205Val)
c.6539A>T (p.Asp2180Val)
c.6437A>T (p.Asp2146Val)
c.6068A>T (p.Asp2023Val)
dbSNP
5g.112842512T>ACA16036422APCc.6972T>A (p.Asp2324Glu)
c.*6924T>A (n.*6924T>A)
c.6864T>A (p.Asp2288Glu)
c.6918T>A (p.Asp2306Glu)
c.*6240T>A (n.*6240T>A)
c.230+13540T>A
c.6948T>A (p.Asp2316Glu)
c.6843T>A (p.Asp2281Glu)
c.6834T>A (p.Asp2278Glu)
c.6795T>A (p.Asp2265Glu)
c.6741T>A (p.Asp2247Glu)
c.6645T>A (p.Asp2215Glu)
c.6615T>A (p.Asp2205Glu)
c.6540T>A (p.Asp2180Glu)
c.6438T>A (p.Asp2146Glu)
c.6069T>A (p.Asp2023Glu)
ClinVar dbSNP gnomAD v4
5g.112842512T>CCA446210494APCc.6972T>C (p.Asp2324=)
c.*6924T>C (n.*6924T>C)
c.6864T>C (p.Asp2288=)
c.6918T>C (p.Asp2306=)
c.*6240T>C (n.*6240T>C)
c.230+13540T>C
c.6948T>C (p.Asp2316=)
c.6843T>C (p.Asp2281=)
c.6834T>C (p.Asp2278=)
c.6795T>C (p.Asp2265=)
c.6741T>C (p.Asp2247=)
c.6645T>C (p.Asp2215=)
c.6615T>C (p.Asp2205=)
c.6540T>C (p.Asp2180=)
c.6438T>C (p.Asp2146=)
c.6069T>C (p.Asp2023=)
ClinVar dbSNP
5g.112842512T>GCA16036423APCc.6972T>G (p.Asp2324Glu)
c.*6924T>G (n.*6924T>G)
c.6864T>G (p.Asp2288Glu)
c.6918T>G (p.Asp2306Glu)
c.*6240T>G (n.*6240T>G)
c.230+13540T>G
c.6948T>G (p.Asp2316Glu)
c.6843T>G (p.Asp2281Glu)
c.6834T>G (p.Asp2278Glu)
c.6795T>G (p.Asp2265Glu)
c.6741T>G (p.Asp2247Glu)
c.6645T>G (p.Asp2215Glu)
c.6615T>G (p.Asp2205Glu)
c.6540T>G (p.Asp2180Glu)
c.6438T>G (p.Asp2146Glu)
c.6069T>G (p.Asp2023Glu)
dbSNP gnomAD v4
5g.112842512T=CA1573485499APCc.6972T= (p.Asp2324=)
c.*6924T= (n.*6924T=)
c.6864T= (p.Asp2288=)
c.6918T= (p.Asp2306=)
c.*6240T= (n.*6240T=)
c.230+13540T=
c.6948T= (p.Asp2316=)
c.6843T= (p.Asp2281=)
c.6834T= (p.Asp2278=)
c.6795T= (p.Asp2265=)
c.6741T= (p.Asp2247=)
c.6645T= (p.Asp2215=)
c.6615T= (p.Asp2205=)
c.6540T= (p.Asp2180=)
c.6438T= (p.Asp2146=)
c.6069T= (p.Asp2023=)
5g.112842513dupCA2580072364APCc.6973dup (p.Ser2325PhefsTer13)
c.*6925dup (n.*6925dup)
c.6865dup (p.Ser2289PhefsTer13)
c.6919dup (p.Ser2307PhefsTer13)
c.*6241dup (n.*6241dup)
c.230+13541dup
c.6949dup (p.Ser2317PhefsTer13)
c.6844dup (p.Ser2282PhefsTer13)
c.6835dup (p.Ser2279PhefsTer13)
c.6796dup (p.Ser2266PhefsTer13)
c.6742dup (p.Ser2248PhefsTer13)
c.6646dup (p.Ser2216PhefsTer13)
c.6616dup (p.Ser2206PhefsTer13)
c.6541dup (p.Ser2181PhefsTer13)
c.6439dup (p.Ser2147PhefsTer13)
c.6070dup (p.Ser2024PhefsTer13)
ClinVar
5g.112842513T>ACA16036424APCc.6973T>A (p.Ser2325Thr)
c.*6925T>A (n.*6925T>A)
c.6865T>A (p.Ser2289Thr)
c.6919T>A (p.Ser2307Thr)
c.*6241T>A (n.*6241T>A)
c.230+13541T>A
c.6949T>A (p.Ser2317Thr)
c.6844T>A (p.Ser2282Thr)
c.6835T>A (p.Ser2279Thr)
c.6796T>A (p.Ser2266Thr)
c.6742T>A (p.Ser2248Thr)
c.6646T>A (p.Ser2216Thr)
c.6616T>A (p.Ser2206Thr)
c.6541T>A (p.Ser2181Thr)
c.6439T>A (p.Ser2147Thr)
c.6070T>A (p.Ser2024Thr)
gnomAD v4 COSMIC
5g.112842513T>CCA16036425APCc.6973T>C (p.Ser2325Pro)
c.*6925T>C (n.*6925T>C)
c.6865T>C (p.Ser2289Pro)
c.6919T>C (p.Ser2307Pro)
c.*6241T>C (n.*6241T>C)
c.230+13541T>C
c.6949T>C (p.Ser2317Pro)
c.6844T>C (p.Ser2282Pro)
c.6835T>C (p.Ser2279Pro)
c.6796T>C (p.Ser2266Pro)
c.6742T>C (p.Ser2248Pro)
c.6646T>C (p.Ser2216Pro)
c.6616T>C (p.Ser2206Pro)
c.6541T>C (p.Ser2181Pro)
c.6439T>C (p.Ser2147Pro)
c.6070T>C (p.Ser2024Pro)
5g.112842513T>GCA16036426APCc.6973T>G (p.Ser2325Ala)
c.*6925T>G (n.*6925T>G)
c.6865T>G (p.Ser2289Ala)
c.6919T>G (p.Ser2307Ala)
c.*6241T>G (n.*6241T>G)
c.230+13541T>G
c.6949T>G (p.Ser2317Ala)
c.6844T>G (p.Ser2282Ala)
c.6835T>G (p.Ser2279Ala)
c.6796T>G (p.Ser2266Ala)
c.6742T>G (p.Ser2248Ala)
c.6646T>G (p.Ser2216Ala)
c.6616T>G (p.Ser2206Ala)
c.6541T>G (p.Ser2181Ala)
c.6439T>G (p.Ser2147Ala)
c.6070T>G (p.Ser2024Ala)
5g.112842514C>ACA16036427APCc.6974C>A (p.Ser2325Ter)
c.*6926C>A (n.*6926C>A)
c.6866C>A (p.Ser2289Ter)
c.6920C>A (p.Ser2307Ter)
c.*6242C>A (n.*6242C>A)
c.230+13542C>A
c.6950C>A (p.Ser2317Ter)
c.6845C>A (p.Ser2282Ter)
c.6836C>A (p.Ser2279Ter)
c.6797C>A (p.Ser2266Ter)
c.6743C>A (p.Ser2248Ter)
c.6647C>A (p.Ser2216Ter)
c.6617C>A (p.Ser2206Ter)
c.6542C>A (p.Ser2181Ter)
c.6440C>A (p.Ser2147Ter)
c.6071C>A (p.Ser2024Ter)
ClinVar dbSNP
5g.112842514C=CA1573485511APCc.6974C= (p.Ser2325=)
c.*6926C= (n.*6926C=)
c.6866C= (p.Ser2289=)
c.6920C= (p.Ser2307=)
c.*6242C= (n.*6242C=)
c.230+13542C=
c.6950C= (p.Ser2317=)
c.6845C= (p.Ser2282=)
c.6836C= (p.Ser2279=)
c.6797C= (p.Ser2266=)
c.6743C= (p.Ser2248=)
c.6647C= (p.Ser2216=)
c.6617C= (p.Ser2206=)
c.6542C= (p.Ser2181=)
c.6440C= (p.Ser2147=)
c.6071C= (p.Ser2024=)
5g.112842514C>GCA16036428APCc.6974C>G (p.Ser2325Trp)
c.*6926C>G (n.*6926C>G)
c.6866C>G (p.Ser2289Trp)
c.6920C>G (p.Ser2307Trp)
c.*6242C>G (n.*6242C>G)
c.230+13542C>G
c.6950C>G (p.Ser2317Trp)
c.6845C>G (p.Ser2282Trp)
c.6836C>G (p.Ser2279Trp)
c.6797C>G (p.Ser2266Trp)
c.6743C>G (p.Ser2248Trp)
c.6647C>G (p.Ser2216Trp)
c.6617C>G (p.Ser2206Trp)
c.6542C>G (p.Ser2181Trp)
c.6440C>G (p.Ser2147Trp)
c.6071C>G (p.Ser2024Trp)
ClinVar dbSNP
5g.112842514C>TCA16036429APCc.6974C>T (p.Ser2325Leu)
c.*6926C>T (n.*6926C>T)
c.6866C>T (p.Ser2289Leu)
c.6920C>T (p.Ser2307Leu)
c.*6242C>T (n.*6242C>T)
c.230+13542C>T
c.6950C>T (p.Ser2317Leu)
c.6845C>T (p.Ser2282Leu)
c.6836C>T (p.Ser2279Leu)
c.6797C>T (p.Ser2266Leu)
c.6743C>T (p.Ser2248Leu)
c.6647C>T (p.Ser2216Leu)
c.6617C>T (p.Ser2206Leu)
c.6542C>T (p.Ser2181Leu)
c.6440C>T (p.Ser2147Leu)
c.6071C>T (p.Ser2024Leu)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112842515G>ACA012655APCc.6975G>A (p.Ser2325=)
c.*6927G>A (n.*6927G>A)
c.6867G>A (p.Ser2289=)
c.6921G>A (p.Ser2307=)
c.*6243G>A (n.*6243G>A)
c.230+13543G>A
c.6951G>A (p.Ser2317=)
c.6846G>A (p.Ser2282=)
c.6837G>A (p.Ser2279=)
c.6798G>A (p.Ser2266=)
c.6744G>A (p.Ser2248=)
c.6648G>A (p.Ser2216=)
c.6618G>A (p.Ser2206=)
c.6543G>A (p.Ser2181=)
c.6441G>A (p.Ser2147=)
c.6072G>A (p.Ser2024=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842515G>CCA446210500APCc.6975G>C (p.Ser2325=)
c.*6927G>C (n.*6927G>C)
c.6867G>C (p.Ser2289=)
c.6921G>C (p.Ser2307=)
c.*6243G>C (n.*6243G>C)
c.230+13543G>C
c.6951G>C (p.Ser2317=)
c.6846G>C (p.Ser2282=)
c.6837G>C (p.Ser2279=)
c.6798G>C (p.Ser2266=)
c.6744G>C (p.Ser2248=)
c.6648G>C (p.Ser2216=)
c.6618G>C (p.Ser2206=)
c.6543G>C (p.Ser2181=)
c.6441G>C (p.Ser2147=)
c.6072G>C (p.Ser2024=)
ClinVar dbSNP gnomAD v4
5g.112842515G=CA1573485544APCc.6975G= (p.Ser2325=)
c.*6927G= (n.*6927G=)
c.6867G= (p.Ser2289=)
c.6921G= (p.Ser2307=)
c.*6243G= (n.*6243G=)
c.230+13543G=
c.6951G= (p.Ser2317=)
c.6846G= (p.Ser2282=)
c.6837G= (p.Ser2279=)
c.6798G= (p.Ser2266=)
c.6744G= (p.Ser2248=)
c.6648G= (p.Ser2216=)
c.6618G= (p.Ser2206=)
c.6543G= (p.Ser2181=)
c.6441G= (p.Ser2147=)
c.6072G= (p.Ser2024=)
5g.112842515G>TCA446210501APCc.6975G>T (p.Ser2325=)
c.*6927G>T (n.*6927G>T)
c.6867G>T (p.Ser2289=)
c.6921G>T (p.Ser2307=)
c.*6243G>T (n.*6243G>T)
c.230+13543G>T
c.6951G>T (p.Ser2317=)
c.6846G>T (p.Ser2282=)
c.6837G>T (p.Ser2279=)
c.6798G>T (p.Ser2266=)
c.6744G>T (p.Ser2248=)
c.6648G>T (p.Ser2216=)
c.6618G>T (p.Ser2206=)
c.6543G>T (p.Ser2181=)
c.6441G>T (p.Ser2147=)
c.6072G>T (p.Ser2024=)
dbSNP
5g.112842516A=CA1573485550APCc.6976A= (p.Thr2326=)
c.*6928A= (n.*6928A=)
c.6868A= (p.Thr2290=)
c.6922A= (p.Thr2308=)
c.*6244A= (n.*6244A=)
c.230+13544A=
c.6952A= (p.Thr2318=)
c.6847A= (p.Thr2283=)
c.6838A= (p.Thr2280=)
c.6799A= (p.Thr2267=)
c.6745A= (p.Thr2249=)
c.6649A= (p.Thr2217=)
c.6619A= (p.Thr2207=)
c.6544A= (p.Thr2182=)
c.6442A= (p.Thr2148=)
c.6073A= (p.Thr2025=)
5g.112842516A>CCA16036430APCc.6976A>C (p.Thr2326Pro)
c.*6928A>C (n.*6928A>C)
c.6868A>C (p.Thr2290Pro)
c.6922A>C (p.Thr2308Pro)
c.*6244A>C (n.*6244A>C)
c.230+13544A>C
c.6952A>C (p.Thr2318Pro)
c.6847A>C (p.Thr2283Pro)
c.6838A>C (p.Thr2280Pro)
c.6799A>C (p.Thr2267Pro)
c.6745A>C (p.Thr2249Pro)
c.6649A>C (p.Thr2217Pro)
c.6619A>C (p.Thr2207Pro)
c.6544A>C (p.Thr2182Pro)
c.6442A>C (p.Thr2148Pro)
c.6073A>C (p.Thr2025Pro)
dbSNP
5g.112842516A>GCA16036431APCc.6976A>G (p.Thr2326Ala)
c.*6928A>G (n.*6928A>G)
c.6868A>G (p.Thr2290Ala)
c.6922A>G (p.Thr2308Ala)
c.*6244A>G (n.*6244A>G)
c.230+13544A>G
c.6952A>G (p.Thr2318Ala)
c.6847A>G (p.Thr2283Ala)
c.6838A>G (p.Thr2280Ala)
c.6799A>G (p.Thr2267Ala)
c.6745A>G (p.Thr2249Ala)
c.6649A>G (p.Thr2217Ala)
c.6619A>G (p.Thr2207Ala)
c.6544A>G (p.Thr2182Ala)
c.6442A>G (p.Thr2148Ala)
c.6073A>G (p.Thr2025Ala)
ClinVar dbSNP gnomAD v4
5g.112842516A>TCA16036432APCc.6976A>T (p.Thr2326Ser)
c.*6928A>T (n.*6928A>T)
c.6868A>T (p.Thr2290Ser)
c.6922A>T (p.Thr2308Ser)
c.*6244A>T (n.*6244A>T)
c.230+13544A>T
c.6952A>T (p.Thr2318Ser)
c.6847A>T (p.Thr2283Ser)
c.6838A>T (p.Thr2280Ser)
c.6799A>T (p.Thr2267Ser)
c.6745A>T (p.Thr2249Ser)
c.6649A>T (p.Thr2217Ser)
c.6619A>T (p.Thr2207Ser)
c.6544A>T (p.Thr2182Ser)
c.6442A>T (p.Thr2148Ser)
c.6073A>T (p.Thr2025Ser)
ClinVar gnomAD v4
5g.112842517C>ACA16036433APCc.6977C>A (p.Thr2326Asn)
c.*6929C>A (n.*6929C>A)
c.6869C>A (p.Thr2290Asn)
c.6923C>A (p.Thr2308Asn)
c.*6245C>A (n.*6245C>A)
c.230+13545C>A
c.6953C>A (p.Thr2318Asn)
c.6848C>A (p.Thr2283Asn)
c.6839C>A (p.Thr2280Asn)
c.6800C>A (p.Thr2267Asn)
c.6746C>A (p.Thr2249Asn)
c.6650C>A (p.Thr2217Asn)
c.6620C>A (p.Thr2207Asn)
c.6545C>A (p.Thr2182Asn)
c.6443C>A (p.Thr2148Asn)
c.6074C>A (p.Thr2025Asn)
dbSNP
5g.112842517C>GCA16036434APCc.6977C>G (p.Thr2326Ser)
c.*6929C>G (n.*6929C>G)
c.6869C>G (p.Thr2290Ser)
c.6923C>G (p.Thr2308Ser)
c.*6245C>G (n.*6245C>G)
c.230+13545C>G
c.6953C>G (p.Thr2318Ser)
c.6848C>G (p.Thr2283Ser)
c.6839C>G (p.Thr2280Ser)
c.6800C>G (p.Thr2267Ser)
c.6746C>G (p.Thr2249Ser)
c.6650C>G (p.Thr2217Ser)
c.6620C>G (p.Thr2207Ser)
c.6545C>G (p.Thr2182Ser)
c.6443C>G (p.Thr2148Ser)
c.6074C>G (p.Thr2025Ser)
dbSNP
5g.112842517C>TCA16036435APCc.6977C>T (p.Thr2326Ile)
c.*6929C>T (n.*6929C>T)
c.6869C>T (p.Thr2290Ile)
c.6923C>T (p.Thr2308Ile)
c.*6245C>T (n.*6245C>T)
c.230+13545C>T
c.6953C>T (p.Thr2318Ile)
c.6848C>T (p.Thr2283Ile)
c.6839C>T (p.Thr2280Ile)
c.6800C>T (p.Thr2267Ile)
c.6746C>T (p.Thr2249Ile)
c.6650C>T (p.Thr2217Ile)
c.6620C>T (p.Thr2207Ile)
c.6545C>T (p.Thr2182Ile)
c.6443C>T (p.Thr2148Ile)
c.6074C>T (p.Thr2025Ile)
ClinVar dbSNP
5g.112842520delCA2695198719APCc.6980del (p.Pro2327LeufsTer9)
c.*6932del (n.*6932del)
c.6872del (p.Pro2291LeufsTer9)
c.6926del (p.Pro2309LeufsTer9)
c.*6248del (n.*6248del)
c.230+13548del
c.6956del (p.Pro2319LeufsTer9)
c.6851del (p.Pro2284LeufsTer9)
c.6842del (p.Pro2281LeufsTer9)
c.6803del (p.Pro2268LeufsTer9)
c.6749del (p.Pro2250LeufsTer9)
c.6653del (p.Pro2218LeufsTer9)
c.6623del (p.Pro2208LeufsTer9)
c.6548del (p.Pro2183LeufsTer9)
c.6446del (p.Pro2149LeufsTer9)
c.6077del (p.Pro2026LeufsTer9)
ClinVar
5g.112842518C>ACA446210506APCc.6978C>A (p.Thr2326=)
c.*6930C>A (n.*6930C>A)
c.6870C>A (p.Thr2290=)
c.6924C>A (p.Thr2308=)
c.*6246C>A (n.*6246C>A)
c.230+13546C>A
c.6954C>A (p.Thr2318=)
c.6849C>A (p.Thr2283=)
c.6840C>A (p.Thr2280=)
c.6801C>A (p.Thr2267=)
c.6747C>A (p.Thr2249=)
c.6651C>A (p.Thr2217=)
c.6621C>A (p.Thr2207=)
c.6546C>A (p.Thr2182=)
c.6444C>A (p.Thr2148=)
c.6075C>A (p.Thr2025=)
ClinVar dbSNP
5g.112842518C=CA1573485559APCc.6978C= (p.Thr2326=)
c.*6930C= (n.*6930C=)
c.6870C= (p.Thr2290=)
c.6924C= (p.Thr2308=)
c.*6246C= (n.*6246C=)
c.230+13546C=
c.6954C= (p.Thr2318=)
c.6849C= (p.Thr2283=)
c.6840C= (p.Thr2280=)
c.6801C= (p.Thr2267=)
c.6747C= (p.Thr2249=)
c.6651C= (p.Thr2217=)
c.6621C= (p.Thr2207=)
c.6546C= (p.Thr2182=)
c.6444C= (p.Thr2148=)
c.6075C= (p.Thr2025=)
5g.112842518C>GCA446210508APCc.6978C>G (p.Thr2326=)
c.*6930C>G (n.*6930C>G)
c.6870C>G (p.Thr2290=)
c.6924C>G (p.Thr2308=)
c.*6246C>G (n.*6246C>G)
c.230+13546C>G
c.6954C>G (p.Thr2318=)
c.6849C>G (p.Thr2283=)
c.6840C>G (p.Thr2280=)
c.6801C>G (p.Thr2267=)
c.6747C>G (p.Thr2249=)
c.6651C>G (p.Thr2217=)
c.6621C>G (p.Thr2207=)
c.6546C>G (p.Thr2182=)
c.6444C>G (p.Thr2148=)
c.6075C>G (p.Thr2025=)
dbSNP
5g.112842518C>TCA446210509APCc.6978C>T (p.Thr2326=)
c.*6930C>T (n.*6930C>T)
c.6870C>T (p.Thr2290=)
c.6924C>T (p.Thr2308=)
c.*6246C>T (n.*6246C>T)
c.230+13546C>T
c.6954C>T (p.Thr2318=)
c.6849C>T (p.Thr2283=)
c.6840C>T (p.Thr2280=)
c.6801C>T (p.Thr2267=)
c.6747C>T (p.Thr2249=)
c.6651C>T (p.Thr2217=)
c.6621C>T (p.Thr2207=)
c.6546C>T (p.Thr2182=)
c.6444C>T (p.Thr2148=)
c.6075C>T (p.Thr2025=)
ClinVar dbSNP
5g.112842519C>ACA16036436APCc.6979C>A (p.Pro2327Thr)
c.*6931C>A (n.*6931C>A)
c.6871C>A (p.Pro2291Thr)
c.6925C>A (p.Pro2309Thr)
c.*6247C>A (n.*6247C>A)
c.230+13547C>A
c.6955C>A (p.Pro2319Thr)
c.6850C>A (p.Pro2284Thr)
c.6841C>A (p.Pro2281Thr)
c.6802C>A (p.Pro2268Thr)
c.6748C>A (p.Pro2250Thr)
c.6652C>A (p.Pro2218Thr)
c.6622C>A (p.Pro2208Thr)
c.6547C>A (p.Pro2183Thr)
c.6445C>A (p.Pro2149Thr)
c.6076C>A (p.Pro2026Thr)
dbSNP
5g.112842519C=CA1573485566APCc.6979C= (p.Pro2327=)
c.*6931C= (n.*6931C=)
c.6871C= (p.Pro2291=)
c.6925C= (p.Pro2309=)
c.*6247C= (n.*6247C=)
c.230+13547C=
c.6955C= (p.Pro2319=)
c.6850C= (p.Pro2284=)
c.6841C= (p.Pro2281=)
c.6802C= (p.Pro2268=)
c.6748C= (p.Pro2250=)
c.6652C= (p.Pro2218=)
c.6622C= (p.Pro2208=)
c.6547C= (p.Pro2183=)
c.6445C= (p.Pro2149=)
c.6076C= (p.Pro2026=)
5g.112842519C>GCA16036437APCc.6979C>G (p.Pro2327Ala)
c.*6931C>G (n.*6931C>G)
c.6871C>G (p.Pro2291Ala)
c.6925C>G (p.Pro2309Ala)
c.*6247C>G (n.*6247C>G)
c.230+13547C>G
c.6955C>G (p.Pro2319Ala)
c.6850C>G (p.Pro2284Ala)
c.6841C>G (p.Pro2281Ala)
c.6802C>G (p.Pro2268Ala)
c.6748C>G (p.Pro2250Ala)
c.6652C>G (p.Pro2218Ala)
c.6622C>G (p.Pro2208Ala)
c.6547C>G (p.Pro2183Ala)
c.6445C>G (p.Pro2149Ala)
c.6076C>G (p.Pro2026Ala)
ClinVar dbSNP
5g.112842519C>TCA16036438APCc.6979C>T (p.Pro2327Ser)
c.*6931C>T (n.*6931C>T)
c.6871C>T (p.Pro2291Ser)
c.6925C>T (p.Pro2309Ser)
c.*6247C>T (n.*6247C>T)
c.230+13547C>T
c.6955C>T (p.Pro2319Ser)
c.6850C>T (p.Pro2284Ser)
c.6841C>T (p.Pro2281Ser)
c.6802C>T (p.Pro2268Ser)
c.6748C>T (p.Pro2250Ser)
c.6652C>T (p.Pro2218Ser)
c.6622C>T (p.Pro2208Ser)
c.6547C>T (p.Pro2183Ser)
c.6445C>T (p.Pro2149Ser)
c.6076C>T (p.Pro2026Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842520C>ACA16036439APCc.6980C>A (p.Pro2327His)
c.*6932C>A (n.*6932C>A)
c.6872C>A (p.Pro2291His)
c.6926C>A (p.Pro2309His)
c.*6248C>A (n.*6248C>A)
c.230+13548C>A
c.6956C>A (p.Pro2319His)
c.6851C>A (p.Pro2284His)
c.6842C>A (p.Pro2281His)
c.6803C>A (p.Pro2268His)
c.6749C>A (p.Pro2250His)
c.6653C>A (p.Pro2218His)
c.6623C>A (p.Pro2208His)
c.6548C>A (p.Pro2183His)
c.6446C>A (p.Pro2149His)
c.6077C>A (p.Pro2026His)
ClinVar
5g.112842520C=CA1573485579APCc.6980C= (p.Pro2327=)
c.*6932C= (n.*6932C=)
c.6872C= (p.Pro2291=)
c.6926C= (p.Pro2309=)
c.*6248C= (n.*6248C=)
c.230+13548C=
c.6956C= (p.Pro2319=)
c.6851C= (p.Pro2284=)
c.6842C= (p.Pro2281=)
c.6803C= (p.Pro2268=)
c.6749C= (p.Pro2250=)
c.6653C= (p.Pro2218=)
c.6623C= (p.Pro2208=)
c.6548C= (p.Pro2183=)
c.6446C= (p.Pro2149=)
c.6077C= (p.Pro2026=)
5g.112842520C>GCA16036440APCc.6980C>G (p.Pro2327Arg)
c.*6932C>G (n.*6932C>G)
c.6872C>G (p.Pro2291Arg)
c.6926C>G (p.Pro2309Arg)
c.*6248C>G (n.*6248C>G)
c.230+13548C>G
c.6956C>G (p.Pro2319Arg)
c.6851C>G (p.Pro2284Arg)
c.6842C>G (p.Pro2281Arg)
c.6803C>G (p.Pro2268Arg)
c.6749C>G (p.Pro2250Arg)
c.6653C>G (p.Pro2218Arg)
c.6623C>G (p.Pro2208Arg)
c.6548C>G (p.Pro2183Arg)
c.6446C>G (p.Pro2149Arg)
c.6077C>G (p.Pro2026Arg)
5g.112842520C>TCA16036441APCc.6980C>T (p.Pro2327Leu)
c.*6932C>T (n.*6932C>T)
c.6872C>T (p.Pro2291Leu)
c.6926C>T (p.Pro2309Leu)
c.*6248C>T (n.*6248C>T)
c.230+13548C>T
c.6956C>T (p.Pro2319Leu)
c.6851C>T (p.Pro2284Leu)
c.6842C>T (p.Pro2281Leu)
c.6803C>T (p.Pro2268Leu)
c.6749C>T (p.Pro2250Leu)
c.6653C>T (p.Pro2218Leu)
c.6623C>T (p.Pro2208Leu)
c.6548C>T (p.Pro2183Leu)
c.6446C>T (p.Pro2149Leu)
c.6077C>T (p.Pro2026Leu)
ClinVar dbSNP gnomAD v4
5g.112842521T>ACA446210512APCc.6981T>A (p.Pro2327=)
c.*6933T>A (n.*6933T>A)
c.6873T>A (p.Pro2291=)
c.6927T>A (p.Pro2309=)
c.*6249T>A (n.*6249T>A)
c.230+13549T>A
c.6957T>A (p.Pro2319=)
c.6852T>A (p.Pro2284=)
c.6843T>A (p.Pro2281=)
c.6804T>A (p.Pro2268=)
c.6750T>A (p.Pro2250=)
c.6654T>A (p.Pro2218=)
c.6624T>A (p.Pro2208=)
c.6549T>A (p.Pro2183=)
c.6447T>A (p.Pro2149=)
c.6078T>A (p.Pro2026=)
dbSNP
5g.112842521T>CCA446210513APCc.6981T>C (p.Pro2327=)
c.*6933T>C (n.*6933T>C)
c.6873T>C (p.Pro2291=)
c.6927T>C (p.Pro2309=)
c.*6249T>C (n.*6249T>C)
c.230+13549T>C
c.6957T>C (p.Pro2319=)
c.6852T>C (p.Pro2284=)
c.6843T>C (p.Pro2281=)
c.6804T>C (p.Pro2268=)
c.6750T>C (p.Pro2250=)
c.6654T>C (p.Pro2218=)
c.6624T>C (p.Pro2208=)
c.6549T>C (p.Pro2183=)
c.6447T>C (p.Pro2149=)
c.6078T>C (p.Pro2026=)
ClinVar dbSNP
5g.112842521T>GCA446210514APCc.6981T>G (p.Pro2327=)
c.*6933T>G (n.*6933T>G)
c.6873T>G (p.Pro2291=)
c.6927T>G (p.Pro2309=)
c.*6249T>G (n.*6249T>G)
c.230+13549T>G
c.6957T>G (p.Pro2319=)
c.6852T>G (p.Pro2284=)
c.6843T>G (p.Pro2281=)
c.6804T>G (p.Pro2268=)
c.6750T>G (p.Pro2250=)
c.6654T>G (p.Pro2218=)
c.6624T>G (p.Pro2208=)
c.6549T>G (p.Pro2183=)
c.6447T>G (p.Pro2149=)
c.6078T>G (p.Pro2026=)
dbSNP
5g.112842522T>ACA16036442APCc.6982T>A (p.Ser2328Thr)
c.*6934T>A (n.*6934T>A)
c.6874T>A (p.Ser2292Thr)
c.6928T>A (p.Ser2310Thr)
c.*6250T>A (n.*6250T>A)
c.230+13550T>A
c.6958T>A (p.Ser2320Thr)
c.6853T>A (p.Ser2285Thr)
c.6844T>A (p.Ser2282Thr)
c.6805T>A (p.Ser2269Thr)
c.6751T>A (p.Ser2251Thr)
c.6655T>A (p.Ser2219Thr)
c.6625T>A (p.Ser2209Thr)
c.6550T>A (p.Ser2184Thr)
c.6448T>A (p.Ser2150Thr)
c.6079T>A (p.Ser2027Thr)
dbSNP
5g.112842522T>CCA16036443APCc.6982T>C (p.Ser2328Pro)
c.*6934T>C (n.*6934T>C)
c.6874T>C (p.Ser2292Pro)
c.6928T>C (p.Ser2310Pro)
c.*6250T>C (n.*6250T>C)
c.230+13550T>C
c.6958T>C (p.Ser2320Pro)
c.6853T>C (p.Ser2285Pro)
c.6844T>C (p.Ser2282Pro)
c.6805T>C (p.Ser2269Pro)
c.6751T>C (p.Ser2251Pro)
c.6655T>C (p.Ser2219Pro)
c.6625T>C (p.Ser2209Pro)
c.6550T>C (p.Ser2184Pro)
c.6448T>C (p.Ser2150Pro)
c.6079T>C (p.Ser2027Pro)
ClinVar dbSNP
5g.112842522T>GCA16036444APCc.6982T>G (p.Ser2328Ala)
c.*6934T>G (n.*6934T>G)
c.6874T>G (p.Ser2292Ala)
c.6928T>G (p.Ser2310Ala)
c.*6250T>G (n.*6250T>G)
c.230+13550T>G
c.6958T>G (p.Ser2320Ala)
c.6853T>G (p.Ser2285Ala)
c.6844T>G (p.Ser2282Ala)
c.6805T>G (p.Ser2269Ala)
c.6751T>G (p.Ser2251Ala)
c.6655T>G (p.Ser2219Ala)
c.6625T>G (p.Ser2209Ala)
c.6550T>G (p.Ser2184Ala)
c.6448T>G (p.Ser2150Ala)
c.6079T>G (p.Ser2027Ala)
5g.112842522T=CA1573485584APCc.6982T= (p.Ser2328=)
c.*6934T= (n.*6934T=)
c.6874T= (p.Ser2292=)
c.6928T= (p.Ser2310=)
c.*6250T= (n.*6250T=)
c.230+13550T=
c.6958T= (p.Ser2320=)
c.6853T= (p.Ser2285=)
c.6844T= (p.Ser2282=)
c.6805T= (p.Ser2269=)
c.6751T= (p.Ser2251=)
c.6655T= (p.Ser2219=)
c.6625T= (p.Ser2209=)
c.6550T= (p.Ser2184=)
c.6448T= (p.Ser2150=)
c.6079T= (p.Ser2027=)
5g.112842523C>ACA16036445APCc.6983C>A (p.Ser2328Ter)
c.*6935C>A (n.*6935C>A)
c.6875C>A (p.Ser2292Ter)
c.6929C>A (p.Ser2310Ter)
c.*6251C>A (n.*6251C>A)
c.230+13551C>A
c.6959C>A (p.Ser2320Ter)
c.6854C>A (p.Ser2285Ter)
c.6845C>A (p.Ser2282Ter)
c.6806C>A (p.Ser2269Ter)
c.6752C>A (p.Ser2251Ter)
c.6656C>A (p.Ser2219Ter)
c.6626C>A (p.Ser2209Ter)
c.6551C>A (p.Ser2184Ter)
c.6449C>A (p.Ser2150Ter)
c.6080C>A (p.Ser2027Ter)
5g.112842523C=CA1573465324APCc.6983C= (p.Ser2328=)
c.*6935C= (n.*6935C=)
c.6875C= (p.Ser2292=)
c.6929C= (p.Ser2310=)
c.*6251C= (n.*6251C=)
c.230+13551C=
c.6959C= (p.Ser2320=)
c.6854C= (p.Ser2285=)
c.6845C= (p.Ser2282=)
c.6806C= (p.Ser2269=)
c.6752C= (p.Ser2251=)
c.6656C= (p.Ser2219=)
c.6626C= (p.Ser2209=)
c.6551C= (p.Ser2184=)
c.6449C= (p.Ser2150=)
c.6080C= (p.Ser2027=)
5g.112842523C>GCA16036446APCc.6983C>G (p.Ser2328Ter)
c.*6935C>G (n.*6935C>G)
c.6875C>G (p.Ser2292Ter)
c.6929C>G (p.Ser2310Ter)
c.*6251C>G (n.*6251C>G)
c.230+13551C>G
c.6959C>G (p.Ser2320Ter)
c.6854C>G (p.Ser2285Ter)
c.6845C>G (p.Ser2282Ter)
c.6806C>G (p.Ser2269Ter)
c.6752C>G (p.Ser2251Ter)
c.6656C>G (p.Ser2219Ter)
c.6626C>G (p.Ser2209Ter)
c.6551C>G (p.Ser2184Ter)
c.6449C>G (p.Ser2150Ter)
c.6080C>G (p.Ser2027Ter)
dbSNP
5g.112842523C>TCA16036447APCc.6983C>T (p.Ser2328Leu)
c.*6935C>T (n.*6935C>T)
c.6875C>T (p.Ser2292Leu)
c.6929C>T (p.Ser2310Leu)
c.*6251C>T (n.*6251C>T)
c.230+13551C>T
c.6959C>T (p.Ser2320Leu)
c.6854C>T (p.Ser2285Leu)
c.6845C>T (p.Ser2282Leu)
c.6806C>T (p.Ser2269Leu)
c.6752C>T (p.Ser2251Leu)
c.6656C>T (p.Ser2219Leu)
c.6626C>T (p.Ser2209Leu)
c.6551C>T (p.Ser2184Leu)
c.6449C>T (p.Ser2150Leu)
c.6080C>T (p.Ser2027Leu)
ClinVar dbSNP gnomAD v4
5g.112842524A>CCA446210517APCc.6984A>C (p.Ser2328=)
c.*6936A>C (n.*6936A>C)
c.6876A>C (p.Ser2292=)
c.6930A>C (p.Ser2310=)
c.*6252A>C (n.*6252A>C)
c.230+13552A>C
c.6960A>C (p.Ser2320=)
c.6855A>C (p.Ser2285=)
c.6846A>C (p.Ser2282=)
c.6807A>C (p.Ser2269=)
c.6753A>C (p.Ser2251=)
c.6657A>C (p.Ser2219=)
c.6627A>C (p.Ser2209=)
c.6552A>C (p.Ser2184=)
c.6450A>C (p.Ser2150=)
c.6081A>C (p.Ser2027=)
dbSNP gnomAD v4
5g.112842524A>GCA446210519APCc.6984A>G (p.Ser2328=)
c.*6936A>G (n.*6936A>G)
c.6876A>G (p.Ser2292=)
c.6930A>G (p.Ser2310=)
c.*6252A>G (n.*6252A>G)
c.230+13552A>G
c.6960A>G (p.Ser2320=)
c.6855A>G (p.Ser2285=)
c.6846A>G (p.Ser2282=)
c.6807A>G (p.Ser2269=)
c.6753A>G (p.Ser2251=)
c.6657A>G (p.Ser2219=)
c.6627A>G (p.Ser2209=)
c.6552A>G (p.Ser2184=)
c.6450A>G (p.Ser2150=)
c.6081A>G (p.Ser2027=)
dbSNP COSMIC
5g.112842524A>TCA446210518APCc.6984A>T (p.Ser2328=)
c.*6936A>T (n.*6936A>T)
c.6876A>T (p.Ser2292=)
c.6930A>T (p.Ser2310=)
c.*6252A>T (n.*6252A>T)
c.230+13552A>T
c.6960A>T (p.Ser2320=)
c.6855A>T (p.Ser2285=)
c.6846A>T (p.Ser2282=)
c.6807A>T (p.Ser2269=)
c.6753A>T (p.Ser2251=)
c.6657A>T (p.Ser2219=)
c.6627A>T (p.Ser2209=)
c.6552A>T (p.Ser2184=)
c.6450A>T (p.Ser2150=)
c.6081A>T (p.Ser2027=)
dbSNP
5g.112842525A=CA1573465336APCc.6985A= (p.Arg2329=)
c.*6937A= (n.*6937A=)
c.6877A= (p.Arg2293=)
c.6931A= (p.Arg2311=)
c.*6253A= (n.*6253A=)
c.230+13553A=
c.6961A= (p.Arg2321=)
c.6856A= (p.Arg2286=)
c.6847A= (p.Arg2283=)
c.6808A= (p.Arg2270=)
c.6754A= (p.Arg2252=)
c.6658A= (p.Arg2220=)
c.6628A= (p.Arg2210=)
c.6553A= (p.Arg2185=)
c.6451A= (p.Arg2151=)
c.6082A= (p.Arg2028=)
5g.112842525A>CCA446210520APCc.6985A>C (p.Arg2329=)
c.*6937A>C (n.*6937A>C)
c.6877A>C (p.Arg2293=)
c.6931A>C (p.Arg2311=)
c.*6253A>C (n.*6253A>C)
c.230+13553A>C
c.6961A>C (p.Arg2321=)
c.6856A>C (p.Arg2286=)
c.6847A>C (p.Arg2283=)
c.6808A>C (p.Arg2270=)
c.6754A>C (p.Arg2252=)
c.6658A>C (p.Arg2220=)
c.6628A>C (p.Arg2210=)
c.6553A>C (p.Arg2185=)
c.6451A>C (p.Arg2151=)
c.6082A>C (p.Arg2028=)
ClinVar dbSNP
5g.112842525A>GCA10582337APCc.6985A>G (p.Arg2329Gly)
c.*6937A>G (n.*6937A>G)
c.6877A>G (p.Arg2293Gly)
c.6931A>G (p.Arg2311Gly)
c.*6253A>G (n.*6253A>G)
c.230+13553A>G
c.6961A>G (p.Arg2321Gly)
c.6856A>G (p.Arg2286Gly)
c.6847A>G (p.Arg2283Gly)
c.6808A>G (p.Arg2270Gly)
c.6754A>G (p.Arg2252Gly)
c.6658A>G (p.Arg2220Gly)
c.6628A>G (p.Arg2210Gly)
c.6553A>G (p.Arg2185Gly)
c.6451A>G (p.Arg2151Gly)
c.6082A>G (p.Arg2028Gly)
ClinVar dbSNP gnomAD v4
5g.112842525A>TCA16036448APCc.6985A>T (p.Arg2329Ter)
c.*6937A>T (n.*6937A>T)
c.6877A>T (p.Arg2293Ter)
c.6931A>T (p.Arg2311Ter)
c.*6253A>T (n.*6253A>T)
c.230+13553A>T
c.6961A>T (p.Arg2321Ter)
c.6856A>T (p.Arg2286Ter)
c.6847A>T (p.Arg2283Ter)
c.6808A>T (p.Arg2270Ter)
c.6754A>T (p.Arg2252Ter)
c.6658A>T (p.Arg2220Ter)
c.6628A>T (p.Arg2210Ter)
c.6553A>T (p.Arg2185Ter)
c.6451A>T (p.Arg2151Ter)
c.6082A>T (p.Arg2028Ter)
dbSNP
5g.112842526G>ACA10582338APCc.6986G>A (p.Arg2329Lys)
c.*6938G>A (n.*6938G>A)
c.6878G>A (p.Arg2293Lys)
c.6932G>A (p.Arg2311Lys)
c.*6254G>A (n.*6254G>A)
c.230+13554G>A
c.6962G>A (p.Arg2321Lys)
c.6857G>A (p.Arg2286Lys)
c.6848G>A (p.Arg2283Lys)
c.6809G>A (p.Arg2270Lys)
c.6755G>A (p.Arg2252Lys)
c.6659G>A (p.Arg2220Lys)
c.6629G>A (p.Arg2210Lys)
c.6554G>A (p.Arg2185Lys)
c.6452G>A (p.Arg2151Lys)
c.6083G>A (p.Arg2028Lys)
ClinVar dbSNP
5g.112842526G>CCA16036449APCc.6986G>C (p.Arg2329Thr)
c.*6938G>C (n.*6938G>C)
c.6878G>C (p.Arg2293Thr)
c.6932G>C (p.Arg2311Thr)
c.*6254G>C (n.*6254G>C)
c.230+13554G>C
c.6962G>C (p.Arg2321Thr)
c.6857G>C (p.Arg2286Thr)
c.6848G>C (p.Arg2283Thr)
c.6809G>C (p.Arg2270Thr)
c.6755G>C (p.Arg2252Thr)
c.6659G>C (p.Arg2220Thr)
c.6629G>C (p.Arg2210Thr)
c.6554G>C (p.Arg2185Thr)
c.6452G>C (p.Arg2151Thr)
c.6083G>C (p.Arg2028Thr)
ClinVar dbSNP gnomAD v4 COSMIC
5g.112842526G=CA1573465350APCc.6986G= (p.Arg2329=)
c.*6938G= (n.*6938G=)
c.6878G= (p.Arg2293=)
c.6932G= (p.Arg2311=)
c.*6254G= (n.*6254G=)
c.230+13554G=
c.6962G= (p.Arg2321=)
c.6857G= (p.Arg2286=)
c.6848G= (p.Arg2283=)
c.6809G= (p.Arg2270=)
c.6755G= (p.Arg2252=)
c.6659G= (p.Arg2220=)
c.6629G= (p.Arg2210=)
c.6554G= (p.Arg2185=)
c.6452G= (p.Arg2151=)
c.6083G= (p.Arg2028=)
5g.112842526G>TCA16036450APCc.6986G>T (p.Arg2329Ile)
c.*6938G>T (n.*6938G>T)
c.6878G>T (p.Arg2293Ile)
c.6932G>T (p.Arg2311Ile)
c.*6254G>T (n.*6254G>T)
c.230+13554G>T
c.6962G>T (p.Arg2321Ile)
c.6857G>T (p.Arg2286Ile)
c.6848G>T (p.Arg2283Ile)
c.6809G>T (p.Arg2270Ile)
c.6755G>T (p.Arg2252Ile)
c.6659G>T (p.Arg2220Ile)
c.6629G>T (p.Arg2210Ile)
c.6554G>T (p.Arg2185Ile)
c.6452G>T (p.Arg2151Ile)
c.6083G>T (p.Arg2028Ile)
ClinVar dbSNP COSMIC
5g.112842527A=CA1573465356APCc.6987A= (p.Arg2329=)
c.*6939A= (n.*6939A=)
c.6879A= (p.Arg2293=)
c.6933A= (p.Arg2311=)
c.*6255A= (n.*6255A=)
c.230+13555A=
c.6963A= (p.Arg2321=)
c.6858A= (p.Arg2286=)
c.6849A= (p.Arg2283=)
c.6810A= (p.Arg2270=)
c.6756A= (p.Arg2252=)
c.6660A= (p.Arg2220=)
c.6630A= (p.Arg2210=)
c.6555A= (p.Arg2185=)
c.6453A= (p.Arg2151=)
c.6084A= (p.Arg2028=)
5g.112842527A>CCA16036451APCc.6987A>C (p.Arg2329Ser)
c.*6939A>C (n.*6939A>C)
c.6879A>C (p.Arg2293Ser)
c.6933A>C (p.Arg2311Ser)
c.*6255A>C (n.*6255A>C)
c.230+13555A>C
c.6963A>C (p.Arg2321Ser)
c.6858A>C (p.Arg2286Ser)
c.6849A>C (p.Arg2283Ser)
c.6810A>C (p.Arg2270Ser)
c.6756A>C (p.Arg2252Ser)
c.6660A>C (p.Arg2220Ser)
c.6630A>C (p.Arg2210Ser)
c.6555A>C (p.Arg2185Ser)
c.6453A>C (p.Arg2151Ser)
c.6084A>C (p.Arg2028Ser)
dbSNP
5g.112842527A>GCA046475APCc.6987A>G (p.Arg2329=)
c.*6939A>G (n.*6939A>G)
c.6879A>G (p.Arg2293=)
c.6933A>G (p.Arg2311=)
c.*6255A>G (n.*6255A>G)
c.230+13555A>G
c.6963A>G (p.Arg2321=)
c.6858A>G (p.Arg2286=)
c.6849A>G (p.Arg2283=)
c.6810A>G (p.Arg2270=)
c.6756A>G (p.Arg2252=)
c.6660A>G (p.Arg2220=)
c.6630A>G (p.Arg2210=)
c.6555A>G (p.Arg2185=)
c.6453A>G (p.Arg2151=)
c.6084A>G (p.Arg2028=)
ClinVar dbSNP ExAC gnomAD v2
5g.112842527A>TCA16036452APCc.6987A>T (p.Arg2329Ser)
c.*6939A>T (n.*6939A>T)
c.6879A>T (p.Arg2293Ser)
c.6933A>T (p.Arg2311Ser)
c.*6255A>T (n.*6255A>T)
c.230+13555A>T
c.6963A>T (p.Arg2321Ser)
c.6858A>T (p.Arg2286Ser)
c.6849A>T (p.Arg2283Ser)
c.6810A>T (p.Arg2270Ser)
c.6756A>T (p.Arg2252Ser)
c.6660A>T (p.Arg2220Ser)
c.6630A>T (p.Arg2210Ser)
c.6555A>T (p.Arg2185Ser)
c.6453A>T (p.Arg2151Ser)
c.6084A>T (p.Arg2028Ser)
dbSNP
5g.112842528C>ACA16036453APCc.6988C>A (p.Pro2330Thr)
c.*6940C>A (n.*6940C>A)
c.6880C>A (p.Pro2294Thr)
c.6934C>A (p.Pro2312Thr)
c.*6256C>A (n.*6256C>A)
c.230+13556C>A
c.6964C>A (p.Pro2322Thr)
c.6859C>A (p.Pro2287Thr)
c.6850C>A (p.Pro2284Thr)
c.6811C>A (p.Pro2271Thr)
c.6757C>A (p.Pro2253Thr)
c.6661C>A (p.Pro2221Thr)
c.6631C>A (p.Pro2211Thr)
c.6556C>A (p.Pro2186Thr)
c.6454C>A (p.Pro2152Thr)
c.6085C>A (p.Pro2029Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842528C=CA1573465361APCc.6988C= (p.Pro2330=)
c.*6940C= (n.*6940C=)
c.6880C= (p.Pro2294=)
c.6934C= (p.Pro2312=)
c.*6256C= (n.*6256C=)
c.230+13556C=
c.6964C= (p.Pro2322=)
c.6859C= (p.Pro2287=)
c.6850C= (p.Pro2284=)
c.6811C= (p.Pro2271=)
c.6757C= (p.Pro2253=)
c.6661C= (p.Pro2221=)
c.6631C= (p.Pro2211=)
c.6556C= (p.Pro2186=)
c.6454C= (p.Pro2152=)
c.6085C= (p.Pro2029=)
5g.112842528C>GCA16036454APCc.6988C>G (p.Pro2330Ala)
c.*6940C>G (n.*6940C>G)
c.6880C>G (p.Pro2294Ala)
c.6934C>G (p.Pro2312Ala)
c.*6256C>G (n.*6256C>G)
c.230+13556C>G
c.6964C>G (p.Pro2322Ala)
c.6859C>G (p.Pro2287Ala)
c.6850C>G (p.Pro2284Ala)
c.6811C>G (p.Pro2271Ala)
c.6757C>G (p.Pro2253Ala)
c.6661C>G (p.Pro2221Ala)
c.6631C>G (p.Pro2211Ala)
c.6556C>G (p.Pro2186Ala)
c.6454C>G (p.Pro2152Ala)
c.6085C>G (p.Pro2029Ala)
ClinVar dbSNP
5g.112842528C>TCA16036455APCc.6988C>T (p.Pro2330Ser)
c.*6940C>T (n.*6940C>T)
c.6880C>T (p.Pro2294Ser)
c.6934C>T (p.Pro2312Ser)
c.*6256C>T (n.*6256C>T)
c.230+13556C>T
c.6964C>T (p.Pro2322Ser)
c.6859C>T (p.Pro2287Ser)
c.6850C>T (p.Pro2284Ser)
c.6811C>T (p.Pro2271Ser)
c.6757C>T (p.Pro2253Ser)
c.6661C>T (p.Pro2221Ser)
c.6631C>T (p.Pro2211Ser)
c.6556C>T (p.Pro2186Ser)
c.6454C>T (p.Pro2152Ser)
c.6085C>T (p.Pro2029Ser)
ClinVar dbSNP
5g.112842529C>ACA16036456APCc.6989C>A (p.Pro2330His)
c.*6941C>A (n.*6941C>A)
c.6881C>A (p.Pro2294His)
c.6935C>A (p.Pro2312His)
c.*6257C>A (n.*6257C>A)
c.230+13557C>A
c.6965C>A (p.Pro2322His)
c.6860C>A (p.Pro2287His)
c.6851C>A (p.Pro2284His)
c.6812C>A (p.Pro2271His)
c.6758C>A (p.Pro2253His)
c.6662C>A (p.Pro2221His)
c.6632C>A (p.Pro2211His)
c.6557C>A (p.Pro2186His)
c.6455C>A (p.Pro2152His)
c.6086C>A (p.Pro2029His)
dbSNP
5g.112842529C>GCA16036457APCc.6989C>G (p.Pro2330Arg)
c.*6941C>G (n.*6941C>G)
c.6881C>G (p.Pro2294Arg)
c.6935C>G (p.Pro2312Arg)
c.*6257C>G (n.*6257C>G)
c.230+13557C>G
c.6965C>G (p.Pro2322Arg)
c.6860C>G (p.Pro2287Arg)
c.6851C>G (p.Pro2284Arg)
c.6812C>G (p.Pro2271Arg)
c.6758C>G (p.Pro2253Arg)
c.6662C>G (p.Pro2221Arg)
c.6632C>G (p.Pro2211Arg)
c.6557C>G (p.Pro2186Arg)
c.6455C>G (p.Pro2152Arg)
c.6086C>G (p.Pro2029Arg)
ClinVar dbSNP
5g.112842529C>TCA16036458APCc.6989C>T (p.Pro2330Leu)
c.*6941C>T (n.*6941C>T)
c.6881C>T (p.Pro2294Leu)
c.6935C>T (p.Pro2312Leu)
c.*6257C>T (n.*6257C>T)
c.230+13557C>T
c.6965C>T (p.Pro2322Leu)
c.6860C>T (p.Pro2287Leu)
c.6851C>T (p.Pro2284Leu)
c.6812C>T (p.Pro2271Leu)
c.6758C>T (p.Pro2253Leu)
c.6662C>T (p.Pro2221Leu)
c.6632C>T (p.Pro2211Leu)
c.6557C>T (p.Pro2186Leu)
c.6455C>T (p.Pro2152Leu)
c.6086C>T (p.Pro2029Leu)
ClinVar dbSNP
5g.112842530T>ACA446210528APCc.6990T>A (p.Pro2330=)
c.*6942T>A (n.*6942T>A)
c.6882T>A (p.Pro2294=)
c.6936T>A (p.Pro2312=)
c.*6258T>A (n.*6258T>A)
c.230+13558T>A
c.6966T>A (p.Pro2322=)
c.6861T>A (p.Pro2287=)
c.6852T>A (p.Pro2284=)
c.6813T>A (p.Pro2271=)
c.6759T>A (p.Pro2253=)
c.6663T>A (p.Pro2221=)
c.6633T>A (p.Pro2211=)
c.6558T>A (p.Pro2186=)
c.6456T>A (p.Pro2152=)
c.6087T>A (p.Pro2029=)
dbSNP
5g.112842530T>CCA446210531APCc.6990T>C (p.Pro2330=)
c.*6942T>C (n.*6942T>C)
c.6882T>C (p.Pro2294=)
c.6936T>C (p.Pro2312=)
c.*6258T>C (n.*6258T>C)
c.230+13558T>C
c.6966T>C (p.Pro2322=)
c.6861T>C (p.Pro2287=)
c.6852T>C (p.Pro2284=)
c.6813T>C (p.Pro2271=)
c.6759T>C (p.Pro2253=)
c.6663T>C (p.Pro2221=)
c.6633T>C (p.Pro2211=)
c.6558T>C (p.Pro2186=)
c.6456T>C (p.Pro2152=)
c.6087T>C (p.Pro2029=)
ClinVar dbSNP
5g.112842530T>GCA446210530APCc.6990T>G (p.Pro2330=)
c.*6942T>G (n.*6942T>G)
c.6882T>G (p.Pro2294=)
c.6936T>G (p.Pro2312=)
c.*6258T>G (n.*6258T>G)
c.230+13558T>G
c.6966T>G (p.Pro2322=)
c.6861T>G (p.Pro2287=)
c.6852T>G (p.Pro2284=)
c.6813T>G (p.Pro2271=)
c.6759T>G (p.Pro2253=)
c.6663T>G (p.Pro2221=)
c.6633T>G (p.Pro2211=)
c.6558T>G (p.Pro2186=)
c.6456T>G (p.Pro2152=)
c.6087T>G (p.Pro2029=)
ClinVar dbSNP
5g.112842530T=CA1573465364APCc.6990T= (p.Pro2330=)
c.*6942T= (n.*6942T=)
c.6882T= (p.Pro2294=)
c.6936T= (p.Pro2312=)
c.*6258T= (n.*6258T=)
c.230+13558T=
c.6966T= (p.Pro2322=)
c.6861T= (p.Pro2287=)
c.6852T= (p.Pro2284=)
c.6813T= (p.Pro2271=)
c.6759T= (p.Pro2253=)
c.6663T= (p.Pro2221=)
c.6633T= (p.Pro2211=)
c.6558T= (p.Pro2186=)
c.6456T= (p.Pro2152=)
c.6087T= (p.Pro2029=)
5g.112842531G>ACA16036459APCc.6991G>A (p.Ala2331Thr)
c.*6943G>A (n.*6943G>A)
c.6883G>A (p.Ala2295Thr)
c.6937G>A (p.Ala2313Thr)
c.*6259G>A (n.*6259G>A)
c.230+13559G>A
c.6967G>A (p.Ala2323Thr)
c.6862G>A (p.Ala2288Thr)
c.6853G>A (p.Ala2285Thr)
c.6814G>A (p.Ala2272Thr)
c.6760G>A (p.Ala2254Thr)
c.6664G>A (p.Ala2222Thr)
c.6634G>A (p.Ala2212Thr)
c.6559G>A (p.Ala2187Thr)
c.6457G>A (p.Ala2153Thr)
c.6088G>A (p.Ala2030Thr)
ClinVar dbSNP
5g.112842531G>CCA16036460APCc.6991G>C (p.Ala2331Pro)
c.*6943G>C (n.*6943G>C)
c.6883G>C (p.Ala2295Pro)
c.6937G>C (p.Ala2313Pro)
c.*6259G>C (n.*6259G>C)
c.230+13559G>C
c.6967G>C (p.Ala2323Pro)
c.6862G>C (p.Ala2288Pro)
c.6853G>C (p.Ala2285Pro)
c.6814G>C (p.Ala2272Pro)
c.6760G>C (p.Ala2254Pro)
c.6664G>C (p.Ala2222Pro)
c.6634G>C (p.Ala2212Pro)
c.6559G>C (p.Ala2187Pro)
c.6457G>C (p.Ala2153Pro)
c.6088G>C (p.Ala2030Pro)
5g.112842531G=CA1573465390APCc.6991G= (p.Ala2331=)
c.*6943G= (n.*6943G=)
c.6883G= (p.Ala2295=)
c.6937G= (p.Ala2313=)
c.*6259G= (n.*6259G=)
c.230+13559G=
c.6967G= (p.Ala2323=)
c.6862G= (p.Ala2288=)
c.6853G= (p.Ala2285=)
c.6814G= (p.Ala2272=)
c.6760G= (p.Ala2254=)
c.6664G= (p.Ala2222=)
c.6634G= (p.Ala2212=)
c.6559G= (p.Ala2187=)
c.6457G= (p.Ala2153=)
c.6088G= (p.Ala2030=)
5g.112842531G>TCA16036461APCc.6991G>T (p.Ala2331Ser)
c.*6943G>T (n.*6943G>T)
c.6883G>T (p.Ala2295Ser)
c.6937G>T (p.Ala2313Ser)
c.*6259G>T (n.*6259G>T)
c.230+13559G>T
c.6967G>T (p.Ala2323Ser)
c.6862G>T (p.Ala2288Ser)
c.6853G>T (p.Ala2285Ser)
c.6814G>T (p.Ala2272Ser)
c.6760G>T (p.Ala2254Ser)
c.6664G>T (p.Ala2222Ser)
c.6634G>T (p.Ala2212Ser)
c.6559G>T (p.Ala2187Ser)
c.6457G>T (p.Ala2153Ser)
c.6088G>T (p.Ala2030Ser)
dbSNP COSMIC
5g.112842531_112842532delCA2505881181APCc.6991_6992del (p.Ala2331ProfsTer6)
c.*6943_*6944del (n.*6943_*6944del)
c.6883_6884del (p.Ala2295ProfsTer6)
c.6937_6938del (p.Ala2313ProfsTer6)
c.*6259_*6260del (n.*6259_*6260del)
c.230+13559_230+13560del
c.6967_6968del (p.Ala2323ProfsTer6)
c.6862_6863del (p.Ala2288ProfsTer6)
c.6853_6854del (p.Ala2285ProfsTer6)
c.6814_6815del (p.Ala2272ProfsTer6)
c.6760_6761del (p.Ala2254ProfsTer6)
c.6664_6665del (p.Ala2222ProfsTer6)
c.6634_6635del (p.Ala2212ProfsTer6)
c.6559_6560del (p.Ala2187ProfsTer6)
c.6457_6458del (p.Ala2153ProfsTer6)
c.6088_6089del (p.Ala2030ProfsTer6)
5g.112842532C>ACA16036462APCc.6992C>A (p.Ala2331Asp)
c.*6944C>A (n.*6944C>A)
c.6884C>A (p.Ala2295Asp)
c.6938C>A (p.Ala2313Asp)
c.*6260C>A (n.*6260C>A)
c.230+13560C>A
c.6968C>A (p.Ala2323Asp)
c.6863C>A (p.Ala2288Asp)
c.6854C>A (p.Ala2285Asp)
c.6815C>A (p.Ala2272Asp)
c.6761C>A (p.Ala2254Asp)
c.6665C>A (p.Ala2222Asp)
c.6635C>A (p.Ala2212Asp)
c.6560C>A (p.Ala2187Asp)
c.6458C>A (p.Ala2153Asp)
c.6089C>A (p.Ala2030Asp)
ClinVar dbSNP
5g.112842532C>GCA16036463APCc.6992C>G (p.Ala2331Gly)
c.*6944C>G (n.*6944C>G)
c.6884C>G (p.Ala2295Gly)
c.6938C>G (p.Ala2313Gly)
c.*6260C>G (n.*6260C>G)
c.230+13560C>G
c.6968C>G (p.Ala2323Gly)
c.6863C>G (p.Ala2288Gly)
c.6854C>G (p.Ala2285Gly)
c.6815C>G (p.Ala2272Gly)
c.6761C>G (p.Ala2254Gly)
c.6665C>G (p.Ala2222Gly)
c.6635C>G (p.Ala2212Gly)
c.6560C>G (p.Ala2187Gly)
c.6458C>G (p.Ala2153Gly)
c.6089C>G (p.Ala2030Gly)
dbSNP
5g.112842532C>TCA16036464APCc.6992C>T (p.Ala2331Val)
c.*6944C>T (n.*6944C>T)
c.6884C>T (p.Ala2295Val)
c.6938C>T (p.Ala2313Val)
c.*6260C>T (n.*6260C>T)
c.230+13560C>T
c.6968C>T (p.Ala2323Val)
c.6863C>T (p.Ala2288Val)
c.6854C>T (p.Ala2285Val)
c.6815C>T (p.Ala2272Val)
c.6761C>T (p.Ala2254Val)
c.6665C>T (p.Ala2222Val)
c.6635C>T (p.Ala2212Val)
c.6560C>T (p.Ala2187Val)
c.6458C>T (p.Ala2153Val)
c.6089C>T (p.Ala2030Val)
ClinVar dbSNP
5g.112842533C>ACA446210535APCc.6993C>A (p.Ala2331=)
c.*6945C>A (n.*6945C>A)
c.6885C>A (p.Ala2295=)
c.6939C>A (p.Ala2313=)
c.*6261C>A (n.*6261C>A)
c.230+13561C>A
c.6969C>A (p.Ala2323=)
c.6864C>A (p.Ala2288=)
c.6855C>A (p.Ala2285=)
c.6816C>A (p.Ala2272=)
c.6762C>A (p.Ala2254=)
c.6666C>A (p.Ala2222=)
c.6636C>A (p.Ala2212=)
c.6561C>A (p.Ala2187=)
c.6459C>A (p.Ala2153=)
c.6090C>A (p.Ala2030=)
ClinVar dbSNP
5g.112842533C=CA1573465403APCc.6993C= (p.Ala2331=)
c.*6945C= (n.*6945C=)
c.6885C= (p.Ala2295=)
c.6939C= (p.Ala2313=)
c.*6261C= (n.*6261C=)
c.230+13561C=
c.6969C= (p.Ala2323=)
c.6864C= (p.Ala2288=)
c.6855C= (p.Ala2285=)
c.6816C= (p.Ala2272=)
c.6762C= (p.Ala2254=)
c.6666C= (p.Ala2222=)
c.6636C= (p.Ala2212=)
c.6561C= (p.Ala2187=)
c.6459C= (p.Ala2153=)
c.6090C= (p.Ala2030=)
5g.112842533C>GCA446210536APCc.6993C>G (p.Ala2331=)
c.*6945C>G (n.*6945C>G)
c.6885C>G (p.Ala2295=)
c.6939C>G (p.Ala2313=)
c.*6261C>G (n.*6261C>G)
c.230+13561C>G
c.6969C>G (p.Ala2323=)
c.6864C>G (p.Ala2288=)
c.6855C>G (p.Ala2285=)
c.6816C>G (p.Ala2272=)
c.6762C>G (p.Ala2254=)
c.6666C>G (p.Ala2222=)
c.6636C>G (p.Ala2212=)
c.6561C>G (p.Ala2187=)
c.6459C>G (p.Ala2153=)
c.6090C>G (p.Ala2030=)
dbSNP
5g.112842533C>TCA446210538APCc.6993C>T (p.Ala2331=)
c.*6945C>T (n.*6945C>T)
c.6885C>T (p.Ala2295=)
c.6939C>T (p.Ala2313=)
c.*6261C>T (n.*6261C>T)
c.230+13561C>T
c.6969C>T (p.Ala2323=)
c.6864C>T (p.Ala2288=)
c.6855C>T (p.Ala2285=)
c.6816C>T (p.Ala2272=)
c.6762C>T (p.Ala2254=)
c.6666C>T (p.Ala2222=)
c.6636C>T (p.Ala2212=)
c.6561C>T (p.Ala2187=)
c.6459C>T (p.Ala2153=)
c.6090C>T (p.Ala2030=)
dbSNP gnomAD v4
5g.112842534C>ACA16036465APCc.6994C>A (p.Gln2332Lys)
c.*6946C>A (n.*6946C>A)
c.6886C>A (p.Gln2296Lys)
c.6940C>A (p.Gln2314Lys)
c.*6262C>A (n.*6262C>A)
c.230+13562C>A
c.6970C>A (p.Gln2324Lys)
c.6865C>A (p.Gln2289Lys)
c.6856C>A (p.Gln2286Lys)
c.6817C>A (p.Gln2273Lys)
c.6763C>A (p.Gln2255Lys)
c.6667C>A (p.Gln2223Lys)
c.6637C>A (p.Gln2213Lys)
c.6562C>A (p.Gln2188Lys)
c.6460C>A (p.Gln2154Lys)
c.6091C>A (p.Gln2031Lys)
dbSNP
5g.112842534C>GCA16036466APCc.6994C>G (p.Gln2332Glu)
c.*6946C>G (n.*6946C>G)
c.6886C>G (p.Gln2296Glu)
c.6940C>G (p.Gln2314Glu)
c.*6262C>G (n.*6262C>G)
c.230+13562C>G
c.6970C>G (p.Gln2324Glu)
c.6865C>G (p.Gln2289Glu)
c.6856C>G (p.Gln2286Glu)
c.6817C>G (p.Gln2273Glu)
c.6763C>G (p.Gln2255Glu)
c.6667C>G (p.Gln2223Glu)
c.6637C>G (p.Gln2213Glu)
c.6562C>G (p.Gln2188Glu)
c.6460C>G (p.Gln2154Glu)
c.6091C>G (p.Gln2031Glu)
dbSNP
5g.112842534C>TCA16036467APCc.6994C>T (p.Gln2332Ter)
c.*6946C>T (n.*6946C>T)
c.6886C>T (p.Gln2296Ter)
c.6940C>T (p.Gln2314Ter)
c.*6262C>T (n.*6262C>T)
c.230+13562C>T
c.6970C>T (p.Gln2324Ter)
c.6865C>T (p.Gln2289Ter)
c.6856C>T (p.Gln2286Ter)
c.6817C>T (p.Gln2273Ter)
c.6763C>T (p.Gln2255Ter)
c.6667C>T (p.Gln2223Ter)
c.6637C>T (p.Gln2213Ter)
c.6562C>T (p.Gln2188Ter)
c.6460C>T (p.Gln2154Ter)
c.6091C>T (p.Gln2031Ter)
ClinVar dbSNP COSMIC
5g.112842535A=CA1573465411APCc.6995A= (p.Gln2332=)
c.*6947A= (n.*6947A=)
c.6887A= (p.Gln2296=)
c.6941A= (p.Gln2314=)
c.*6263A= (n.*6263A=)
c.230+13563A=
c.6971A= (p.Gln2324=)
c.6866A= (p.Gln2289=)
c.6857A= (p.Gln2286=)
c.6818A= (p.Gln2273=)
c.6764A= (p.Gln2255=)
c.6668A= (p.Gln2223=)
c.6638A= (p.Gln2213=)
c.6563A= (p.Gln2188=)
c.6461A= (p.Gln2154=)
c.6092A= (p.Gln2031=)
5g.112842535A>CCA16036468APCc.6995A>C (p.Gln2332Pro)
c.*6947A>C (n.*6947A>C)
c.6887A>C (p.Gln2296Pro)
c.6941A>C (p.Gln2314Pro)
c.*6263A>C (n.*6263A>C)
c.230+13563A>C
c.6971A>C (p.Gln2324Pro)
c.6866A>C (p.Gln2289Pro)
c.6857A>C (p.Gln2286Pro)
c.6818A>C (p.Gln2273Pro)
c.6764A>C (p.Gln2255Pro)
c.6668A>C (p.Gln2223Pro)
c.6638A>C (p.Gln2213Pro)
c.6563A>C (p.Gln2188Pro)
c.6461A>C (p.Gln2154Pro)
c.6092A>C (p.Gln2031Pro)
dbSNP
5g.112842535A>GCA16036469APCc.6995A>G (p.Gln2332Arg)
c.*6947A>G (n.*6947A>G)
c.6887A>G (p.Gln2296Arg)
c.6941A>G (p.Gln2314Arg)
c.*6263A>G (n.*6263A>G)
c.230+13563A>G
c.6971A>G (p.Gln2324Arg)
c.6866A>G (p.Gln2289Arg)
c.6857A>G (p.Gln2286Arg)
c.6818A>G (p.Gln2273Arg)
c.6764A>G (p.Gln2255Arg)
c.6668A>G (p.Gln2223Arg)
c.6638A>G (p.Gln2213Arg)
c.6563A>G (p.Gln2188Arg)
c.6461A>G (p.Gln2154Arg)
c.6092A>G (p.Gln2031Arg)
ClinVar dbSNP
5g.112842535A>TCA16036470APCc.6995A>T (p.Gln2332Leu)
c.*6947A>T (n.*6947A>T)
c.6887A>T (p.Gln2296Leu)
c.6941A>T (p.Gln2314Leu)
c.*6263A>T (n.*6263A>T)
c.230+13563A>T
c.6971A>T (p.Gln2324Leu)
c.6866A>T (p.Gln2289Leu)
c.6857A>T (p.Gln2286Leu)
c.6818A>T (p.Gln2273Leu)
c.6764A>T (p.Gln2255Leu)
c.6668A>T (p.Gln2223Leu)
c.6638A>T (p.Gln2213Leu)
c.6563A>T (p.Gln2188Leu)
c.6461A>T (p.Gln2154Leu)
c.6092A>T (p.Gln2031Leu)
dbSNP
5g.112842536G>ACA012674APCc.6996G>A (p.Gln2332=)
c.*6948G>A (n.*6948G>A)
c.6888G>A (p.Gln2296=)
c.6942G>A (p.Gln2314=)
c.*6264G>A (n.*6264G>A)
c.230+13564G>A
c.6972G>A (p.Gln2324=)
c.6867G>A (p.Gln2289=)
c.6858G>A (p.Gln2286=)
c.6819G>A (p.Gln2273=)
c.6765G>A (p.Gln2255=)
c.6669G>A (p.Gln2223=)
c.6639G>A (p.Gln2213=)
c.6564G>A (p.Gln2188=)
c.6462G>A (p.Gln2154=)
c.6093G>A (p.Gln2031=)
ClinVar dbSNP
5g.112842536G>CCA16036471APCc.6996G>C (p.Gln2332His)
c.*6948G>C (n.*6948G>C)
c.6888G>C (p.Gln2296His)
c.6942G>C (p.Gln2314His)
c.*6264G>C (n.*6264G>C)
c.230+13564G>C
c.6972G>C (p.Gln2324His)
c.6867G>C (p.Gln2289His)
c.6858G>C (p.Gln2286His)
c.6819G>C (p.Gln2273His)
c.6765G>C (p.Gln2255His)
c.6669G>C (p.Gln2223His)
c.6639G>C (p.Gln2213His)
c.6564G>C (p.Gln2188His)
c.6462G>C (p.Gln2154His)
c.6093G>C (p.Gln2031His)
dbSNP
5g.112842536G=CA1573465427APCc.6996G= (p.Gln2332=)
c.*6948G= (n.*6948G=)
c.6888G= (p.Gln2296=)
c.6942G= (p.Gln2314=)
c.*6264G= (n.*6264G=)
c.230+13564G=
c.6972G= (p.Gln2324=)
c.6867G= (p.Gln2289=)
c.6858G= (p.Gln2286=)
c.6819G= (p.Gln2273=)
c.6765G= (p.Gln2255=)
c.6669G= (p.Gln2223=)
c.6639G= (p.Gln2213=)
c.6564G= (p.Gln2188=)
c.6462G= (p.Gln2154=)
c.6093G= (p.Gln2031=)
5g.112842536G>TCA16036472APCc.6996G>T (p.Gln2332His)
c.*6948G>T (n.*6948G>T)
c.6888G>T (p.Gln2296His)
c.6942G>T (p.Gln2314His)
c.*6264G>T (n.*6264G>T)
c.230+13564G>T
c.6972G>T (p.Gln2324His)
c.6867G>T (p.Gln2289His)
c.6858G>T (p.Gln2286His)
c.6819G>T (p.Gln2273His)
c.6765G>T (p.Gln2255His)
c.6669G>T (p.Gln2223His)
c.6639G>T (p.Gln2213His)
c.6564G>T (p.Gln2188His)
c.6462G>T (p.Gln2154His)
c.6093G>T (p.Gln2031His)
dbSNP
5g.112842537C>ACA16036473APCc.6997C>A (p.Gln2333Lys)
c.*6949C>A (n.*6949C>A)
c.6889C>A (p.Gln2297Lys)
c.6943C>A (p.Gln2315Lys)
c.*6265C>A (n.*6265C>A)
c.230+13565C>A
c.6973C>A (p.Gln2325Lys)
c.6868C>A (p.Gln2290Lys)
c.6859C>A (p.Gln2287Lys)
c.6820C>A (p.Gln2274Lys)
c.6766C>A (p.Gln2256Lys)
c.6670C>A (p.Gln2224Lys)
c.6640C>A (p.Gln2214Lys)
c.6565C>A (p.Gln2189Lys)
c.6463C>A (p.Gln2155Lys)
c.6094C>A (p.Gln2032Lys)
5g.112842537C>GCA16036474APCc.6997C>G (p.Gln2333Glu)
c.*6949C>G (n.*6949C>G)
c.6889C>G (p.Gln2297Glu)
c.6943C>G (p.Gln2315Glu)
c.*6265C>G (n.*6265C>G)
c.230+13565C>G
c.6973C>G (p.Gln2325Glu)
c.6868C>G (p.Gln2290Glu)
c.6859C>G (p.Gln2287Glu)
c.6820C>G (p.Gln2274Glu)
c.6766C>G (p.Gln2256Glu)
c.6670C>G (p.Gln2224Glu)
c.6640C>G (p.Gln2214Glu)
c.6565C>G (p.Gln2189Glu)
c.6463C>G (p.Gln2155Glu)
c.6094C>G (p.Gln2032Glu)
dbSNP
5g.112842537C>TCA16036475APCc.6997C>T (p.Gln2333Ter)
c.*6949C>T (n.*6949C>T)
c.6889C>T (p.Gln2297Ter)
c.6943C>T (p.Gln2315Ter)
c.*6265C>T (n.*6265C>T)
c.230+13565C>T
c.6973C>T (p.Gln2325Ter)
c.6868C>T (p.Gln2290Ter)
c.6859C>T (p.Gln2287Ter)
c.6820C>T (p.Gln2274Ter)
c.6766C>T (p.Gln2256Ter)
c.6670C>T (p.Gln2224Ter)
c.6640C>T (p.Gln2214Ter)
c.6565C>T (p.Gln2189Ter)
c.6463C>T (p.Gln2155Ter)
c.6094C>T (p.Gln2032Ter)
gnomAD v4
5g.112842538A=CA1573465434APCc.6998A= (p.Gln2333=)
c.*6950A= (n.*6950A=)
c.6890A= (p.Gln2297=)
c.6944A= (p.Gln2315=)
c.*6266A= (n.*6266A=)
c.230+13566A=
c.6974A= (p.Gln2325=)
c.6869A= (p.Gln2290=)
c.6860A= (p.Gln2287=)
c.6821A= (p.Gln2274=)
c.6767A= (p.Gln2256=)
c.6671A= (p.Gln2224=)
c.6641A= (p.Gln2214=)
c.6566A= (p.Gln2189=)
c.6464A= (p.Gln2155=)
c.6095A= (p.Gln2032=)
5g.112842538A>CCA16036476APCc.6998A>C (p.Gln2333Pro)
c.*6950A>C (n.*6950A>C)
c.6890A>C (p.Gln2297Pro)
c.6944A>C (p.Gln2315Pro)
c.*6266A>C (n.*6266A>C)
c.230+13566A>C
c.6974A>C (p.Gln2325Pro)
c.6869A>C (p.Gln2290Pro)
c.6860A>C (p.Gln2287Pro)
c.6821A>C (p.Gln2274Pro)
c.6767A>C (p.Gln2256Pro)
c.6671A>C (p.Gln2224Pro)
c.6641A>C (p.Gln2214Pro)
c.6566A>C (p.Gln2189Pro)
c.6464A>C (p.Gln2155Pro)
c.6095A>C (p.Gln2032Pro)
dbSNP
5g.112842538A>GCA16036477APCc.6998A>G (p.Gln2333Arg)
c.*6950A>G (n.*6950A>G)
c.6890A>G (p.Gln2297Arg)
c.6944A>G (p.Gln2315Arg)
c.*6266A>G (n.*6266A>G)
c.230+13566A>G
c.6974A>G (p.Gln2325Arg)
c.6869A>G (p.Gln2290Arg)
c.6860A>G (p.Gln2287Arg)
c.6821A>G (p.Gln2274Arg)
c.6767A>G (p.Gln2256Arg)
c.6671A>G (p.Gln2224Arg)
c.6641A>G (p.Gln2214Arg)
c.6566A>G (p.Gln2189Arg)
c.6464A>G (p.Gln2155Arg)
c.6095A>G (p.Gln2032Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842538A>TCA16036478APCc.6998A>T (p.Gln2333Leu)
c.*6950A>T (n.*6950A>T)
c.6890A>T (p.Gln2297Leu)
c.6944A>T (p.Gln2315Leu)
c.*6266A>T (n.*6266A>T)
c.230+13566A>T
c.6974A>T (p.Gln2325Leu)
c.6869A>T (p.Gln2290Leu)
c.6860A>T (p.Gln2287Leu)
c.6821A>T (p.Gln2274Leu)
c.6767A>T (p.Gln2256Leu)
c.6671A>T (p.Gln2224Leu)
c.6641A>T (p.Gln2214Leu)
c.6566A>T (p.Gln2189Leu)
c.6464A>T (p.Gln2155Leu)
c.6095A>T (p.Gln2032Leu)
dbSNP
5g.112842538_112842539delCA2573138701APCc.6998_6999del (p.Gln2333ProfsTer4)
c.*6950_*6951del (n.*6950_*6951del)
c.6890_6891del (p.Gln2297ProfsTer4)
c.6944_6945del (p.Gln2315ProfsTer4)
c.*6266_*6267del (n.*6266_*6267del)
c.230+13566_230+13567del
c.6974_6975del (p.Gln2325ProfsTer4)
c.6869_6870del (p.Gln2290ProfsTer4)
c.6860_6861del (p.Gln2287ProfsTer4)
c.6821_6822del (p.Gln2274ProfsTer4)
c.6767_6768del (p.Gln2256ProfsTer4)
c.6671_6672del (p.Gln2224ProfsTer4)
c.6641_6642del (p.Gln2214ProfsTer4)
c.6566_6567del (p.Gln2189ProfsTer4)
c.6464_6465del (p.Gln2155ProfsTer4)
c.6095_6096del (p.Gln2032ProfsTer4)
ClinVar dbSNP
5g.112842538_112842550delinsAACCATTAAGTAGCA1573465435APCc.6998_7010delinsAACCATTAAGTAG (p.Gln2333=)
c.*6950_*6962delinsAACCATTAAGTAG (n.*6950_*6962delinsAACCATTAAGTAG)
c.6890_6902delinsAACCATTAAGTAG (p.Gln2297=)
c.6944_6956delinsAACCATTAAGTAG (p.Gln2315=)
c.*6266_*6278delinsAACCATTAAGTAG (n.*6266_*6278delinsAACCATTAAGTAG)
c.230+13566_230+13578delinsAACCATTAAGTAG
c.6974_6986delinsAACCATTAAGTAG (p.Gln2325=)
c.6869_6881delinsAACCATTAAGTAG (p.Gln2290=)
c.6860_6872delinsAACCATTAAGTAG (p.Gln2287=)
c.6821_6833delinsAACCATTAAGTAG (p.Gln2274=)
c.6767_6779delinsAACCATTAAGTAG (p.Gln2256=)
c.6671_6683delinsAACCATTAAGTAG (p.Gln2224=)
c.6641_6653delinsAACCATTAAGTAG (p.Gln2214=)
c.6566_6578delinsAACCATTAAGTAG (p.Gln2189=)
c.6464_6476delinsAACCATTAAGTAG (p.Gln2155=)
c.6095_6107delinsAACCATTAAGTAG (p.Gln2032=)
5g.112842539A=CA1573465445APCc.6999A= (p.Gln2333=)
c.*6951A= (n.*6951A=)
c.6891A= (p.Gln2297=)
c.6945A= (p.Gln2315=)
c.*6267A= (n.*6267A=)
c.230+13567A=
c.6975A= (p.Gln2325=)
c.6870A= (p.Gln2290=)
c.6861A= (p.Gln2287=)
c.6822A= (p.Gln2274=)
c.6768A= (p.Gln2256=)
c.6672A= (p.Gln2224=)
c.6642A= (p.Gln2214=)
c.6567A= (p.Gln2189=)
c.6465A= (p.Gln2155=)
c.6096A= (p.Gln2032=)
5g.112842539A>CCA16036479APCc.6999A>C (p.Gln2333His)
c.*6951A>C (n.*6951A>C)
c.6891A>C (p.Gln2297His)
c.6945A>C (p.Gln2315His)
c.*6267A>C (n.*6267A>C)
c.230+13567A>C
c.6975A>C (p.Gln2325His)
c.6870A>C (p.Gln2290His)
c.6861A>C (p.Gln2287His)
c.6822A>C (p.Gln2274His)
c.6768A>C (p.Gln2256His)
c.6672A>C (p.Gln2224His)
c.6642A>C (p.Gln2214His)
c.6567A>C (p.Gln2189His)
c.6465A>C (p.Gln2155His)
c.6096A>C (p.Gln2032His)
dbSNP
5g.112842539A>GCA012684APCc.6999A>G (p.Gln2333=)
c.*6951A>G (n.*6951A>G)
c.6891A>G (p.Gln2297=)
c.6945A>G (p.Gln2315=)
c.*6267A>G (n.*6267A>G)
c.230+13567A>G
c.6975A>G (p.Gln2325=)
c.6870A>G (p.Gln2290=)
c.6861A>G (p.Gln2287=)
c.6822A>G (p.Gln2274=)
c.6768A>G (p.Gln2256=)
c.6672A>G (p.Gln2224=)
c.6642A>G (p.Gln2214=)
c.6567A>G (p.Gln2189=)
c.6465A>G (p.Gln2155=)
c.6096A>G (p.Gln2032=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842539A>TCA16036480APCc.6999A>T (p.Gln2333His)
c.*6951A>T (n.*6951A>T)
c.6891A>T (p.Gln2297His)
c.6945A>T (p.Gln2315His)
c.*6267A>T (n.*6267A>T)
c.230+13567A>T
c.6975A>T (p.Gln2325His)
c.6870A>T (p.Gln2290His)
c.6861A>T (p.Gln2287His)
c.6822A>T (p.Gln2274His)
c.6768A>T (p.Gln2256His)
c.6672A>T (p.Gln2224His)
c.6642A>T (p.Gln2214His)
c.6567A>T (p.Gln2189His)
c.6465A>T (p.Gln2155His)
c.6096A>T (p.Gln2032His)
5g.112842542_112842553delCA913188187APCc.7002_7013del (p.Leu2335_Pro2338del)
c.*6954_*6965del (n.*6954_*6965del)
c.6894_6905del (p.Leu2299_Pro2302del)
c.6948_6959del (p.Leu2317_Pro2320del)
c.*6270_*6281del (n.*6270_*6281del)
c.230+13570_230+13581del
c.6978_6989del (p.Leu2327_Pro2330del)
c.6873_6884del (p.Leu2292_Pro2295del)
c.6864_6875del (p.Leu2289_Pro2292del)
c.6825_6836del (p.Leu2276_Pro2279del)
c.6771_6782del (p.Leu2258_Pro2261del)
c.6675_6686del (p.Leu2226_Pro2229del)
c.6645_6656del (p.Leu2216_Pro2219del)
c.6570_6581del (p.Leu2191_Pro2194del)
c.6468_6479del (p.Leu2157_Pro2160del)
c.6099_6110del (p.Leu2034_Pro2037del)
ClinVar dbSNP
5g.112842540C>ACA16036481APCc.7000C>A (p.Pro2334Thr)
c.*6952C>A (n.*6952C>A)
c.6892C>A (p.Pro2298Thr)
c.6946C>A (p.Pro2316Thr)
c.*6268C>A (n.*6268C>A)
c.230+13568C>A
c.6976C>A (p.Pro2326Thr)
c.6871C>A (p.Pro2291Thr)
c.6862C>A (p.Pro2288Thr)
c.6823C>A (p.Pro2275Thr)
c.6769C>A (p.Pro2257Thr)
c.6673C>A (p.Pro2225Thr)
c.6643C>A (p.Pro2215Thr)
c.6568C>A (p.Pro2190Thr)
c.6466C>A (p.Pro2156Thr)
c.6097C>A (p.Pro2033Thr)
dbSNP gnomAD v4
5g.112842540C>GCA16036482APCc.7000C>G (p.Pro2334Ala)
c.*6952C>G (n.*6952C>G)
c.6892C>G (p.Pro2298Ala)
c.6946C>G (p.Pro2316Ala)
c.*6268C>G (n.*6268C>G)
c.230+13568C>G
c.6976C>G (p.Pro2326Ala)
c.6871C>G (p.Pro2291Ala)
c.6862C>G (p.Pro2288Ala)
c.6823C>G (p.Pro2275Ala)
c.6769C>G (p.Pro2257Ala)
c.6673C>G (p.Pro2225Ala)
c.6643C>G (p.Pro2215Ala)
c.6568C>G (p.Pro2190Ala)
c.6466C>G (p.Pro2156Ala)
c.6097C>G (p.Pro2033Ala)
5g.112842540C>TCA16036483APCc.7000C>T (p.Pro2334Ser)
c.*6952C>T (n.*6952C>T)
c.6892C>T (p.Pro2298Ser)
c.6946C>T (p.Pro2316Ser)
c.*6268C>T (n.*6268C>T)
c.230+13568C>T
c.6976C>T (p.Pro2326Ser)
c.6871C>T (p.Pro2291Ser)
c.6862C>T (p.Pro2288Ser)
c.6823C>T (p.Pro2275Ser)
c.6769C>T (p.Pro2257Ser)
c.6673C>T (p.Pro2225Ser)
c.6643C>T (p.Pro2215Ser)
c.6568C>T (p.Pro2190Ser)
c.6466C>T (p.Pro2156Ser)
c.6097C>T (p.Pro2033Ser)
ClinVar dbSNP gnomAD v4
5g.112842541C>ACA16036484APCc.7001C>A (p.Pro2334Gln)
c.*6953C>A (n.*6953C>A)
c.6893C>A (p.Pro2298Gln)
c.6947C>A (p.Pro2316Gln)
c.*6269C>A (n.*6269C>A)
c.230+13569C>A
c.6977C>A (p.Pro2326Gln)
c.6872C>A (p.Pro2291Gln)
c.6863C>A (p.Pro2288Gln)
c.6824C>A (p.Pro2275Gln)
c.6770C>A (p.Pro2257Gln)
c.6674C>A (p.Pro2225Gln)
c.6644C>A (p.Pro2215Gln)
c.6569C>A (p.Pro2190Gln)
c.6467C>A (p.Pro2156Gln)
c.6098C>A (p.Pro2033Gln)
dbSNP
5g.112842541C=CA1573465459APCc.7001C= (p.Pro2334=)
c.*6953C= (n.*6953C=)
c.6893C= (p.Pro2298=)
c.6947C= (p.Pro2316=)
c.*6269C= (n.*6269C=)
c.230+13569C=
c.6977C= (p.Pro2326=)
c.6872C= (p.Pro2291=)
c.6863C= (p.Pro2288=)
c.6824C= (p.Pro2275=)
c.6770C= (p.Pro2257=)
c.6674C= (p.Pro2225=)
c.6644C= (p.Pro2215=)
c.6569C= (p.Pro2190=)
c.6467C= (p.Pro2156=)
c.6098C= (p.Pro2033=)
5g.112842541C>GCA16036485APCc.7001C>G (p.Pro2334Arg)
c.*6953C>G (n.*6953C>G)
c.6893C>G (p.Pro2298Arg)
c.6947C>G (p.Pro2316Arg)
c.*6269C>G (n.*6269C>G)
c.230+13569C>G
c.6977C>G (p.Pro2326Arg)
c.6872C>G (p.Pro2291Arg)
c.6863C>G (p.Pro2288Arg)
c.6824C>G (p.Pro2275Arg)
c.6770C>G (p.Pro2257Arg)
c.6674C>G (p.Pro2225Arg)
c.6644C>G (p.Pro2215Arg)
c.6569C>G (p.Pro2190Arg)
c.6467C>G (p.Pro2156Arg)
c.6098C>G (p.Pro2033Arg)
dbSNP
5g.112842541C>TCA16036486APCc.7001C>T (p.Pro2334Leu)
c.*6953C>T (n.*6953C>T)
c.6893C>T (p.Pro2298Leu)
c.6947C>T (p.Pro2316Leu)
c.*6269C>T (n.*6269C>T)
c.230+13569C>T
c.6977C>T (p.Pro2326Leu)
c.6872C>T (p.Pro2291Leu)
c.6863C>T (p.Pro2288Leu)
c.6824C>T (p.Pro2275Leu)
c.6770C>T (p.Pro2257Leu)
c.6674C>T (p.Pro2225Leu)
c.6644C>T (p.Pro2215Leu)
c.6569C>T (p.Pro2190Leu)
c.6467C>T (p.Pro2156Leu)
c.6098C>T (p.Pro2033Leu)
ClinVar dbSNP
5g.112842542A=CA1573465464APCc.7002A= (p.Pro2334=)
c.*6954A= (n.*6954A=)
c.6894A= (p.Pro2298=)
c.6948A= (p.Pro2316=)
c.*6270A= (n.*6270A=)
c.230+13570A=
c.6978A= (p.Pro2326=)
c.6873A= (p.Pro2291=)
c.6864A= (p.Pro2288=)
c.6825A= (p.Pro2275=)
c.6771A= (p.Pro2257=)
c.6675A= (p.Pro2225=)
c.6645A= (p.Pro2215=)
c.6570A= (p.Pro2190=)
c.6468A= (p.Pro2156=)
c.6099A= (p.Pro2033=)
5g.112842542A>CCA446210547APCc.7002A>C (p.Pro2334=)
c.*6954A>C (n.*6954A>C)
c.6894A>C (p.Pro2298=)
c.6948A>C (p.Pro2316=)
c.*6270A>C (n.*6270A>C)
c.230+13570A>C
c.6978A>C (p.Pro2326=)
c.6873A>C (p.Pro2291=)
c.6864A>C (p.Pro2288=)
c.6825A>C (p.Pro2275=)
c.6771A>C (p.Pro2257=)
c.6675A>C (p.Pro2225=)
c.6645A>C (p.Pro2215=)
c.6570A>C (p.Pro2190=)
c.6468A>C (p.Pro2156=)
c.6099A>C (p.Pro2033=)
5g.112842542A>GCA046486APCc.7002A>G (p.Pro2334=)
c.*6954A>G (n.*6954A>G)
c.6894A>G (p.Pro2298=)
c.6948A>G (p.Pro2316=)
c.*6270A>G (n.*6270A>G)
c.230+13570A>G
c.6978A>G (p.Pro2326=)
c.6873A>G (p.Pro2291=)
c.6864A>G (p.Pro2288=)
c.6825A>G (p.Pro2275=)
c.6771A>G (p.Pro2257=)
c.6675A>G (p.Pro2225=)
c.6645A>G (p.Pro2215=)
c.6570A>G (p.Pro2190=)
c.6468A>G (p.Pro2156=)
c.6099A>G (p.Pro2033=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842542A>TCA446210548APCc.7002A>T (p.Pro2334=)
c.*6954A>T (n.*6954A>T)
c.6894A>T (p.Pro2298=)
c.6948A>T (p.Pro2316=)
c.*6270A>T (n.*6270A>T)
c.230+13570A>T
c.6978A>T (p.Pro2326=)
c.6873A>T (p.Pro2291=)
c.6864A>T (p.Pro2288=)
c.6825A>T (p.Pro2275=)
c.6771A>T (p.Pro2257=)
c.6675A>T (p.Pro2225=)
c.6645A>T (p.Pro2215=)
c.6570A>T (p.Pro2190=)
c.6468A>T (p.Pro2156=)
c.6099A>T (p.Pro2033=)
5g.112842543T>ACA16036487APCc.7003T>A (p.Leu2335Ile)
c.*6955T>A (n.*6955T>A)
c.6895T>A (p.Leu2299Ile)
c.6949T>A (p.Leu2317Ile)
c.*6271T>A (n.*6271T>A)
c.230+13571T>A
c.6979T>A (p.Leu2327Ile)
c.6874T>A (p.Leu2292Ile)
c.6865T>A (p.Leu2289Ile)
c.6826T>A (p.Leu2276Ile)
c.6772T>A (p.Leu2258Ile)
c.6676T>A (p.Leu2226Ile)
c.6646T>A (p.Leu2216Ile)
c.6571T>A (p.Leu2191Ile)
c.6469T>A (p.Leu2157Ile)
c.6100T>A (p.Leu2034Ile)
ClinVar dbSNP
5g.112842543T>CCA446210550APCc.7003T>C (p.Leu2335=)
c.*6955T>C (n.*6955T>C)
c.6895T>C (p.Leu2299=)
c.6949T>C (p.Leu2317=)
c.*6271T>C (n.*6271T>C)
c.230+13571T>C
c.6979T>C (p.Leu2327=)
c.6874T>C (p.Leu2292=)
c.6865T>C (p.Leu2289=)
c.6826T>C (p.Leu2276=)
c.6772T>C (p.Leu2258=)
c.6676T>C (p.Leu2226=)
c.6646T>C (p.Leu2216=)
c.6571T>C (p.Leu2191=)
c.6469T>C (p.Leu2157=)
c.6100T>C (p.Leu2034=)
dbSNP
5g.112842543T>GCA16036488APCc.7003T>G (p.Leu2335Val)
c.*6955T>G (n.*6955T>G)
c.6895T>G (p.Leu2299Val)
c.6949T>G (p.Leu2317Val)
c.*6271T>G (n.*6271T>G)
c.230+13571T>G
c.6979T>G (p.Leu2327Val)
c.6874T>G (p.Leu2292Val)
c.6865T>G (p.Leu2289Val)
c.6826T>G (p.Leu2276Val)
c.6772T>G (p.Leu2258Val)
c.6676T>G (p.Leu2226Val)
c.6646T>G (p.Leu2216Val)
c.6571T>G (p.Leu2191Val)
c.6469T>G (p.Leu2157Val)
c.6100T>G (p.Leu2034Val)
dbSNP
5g.112842543T=CA1573465478APCc.7003T= (p.Leu2335=)
c.*6955T= (n.*6955T=)
c.6895T= (p.Leu2299=)
c.6949T= (p.Leu2317=)
c.*6271T= (n.*6271T=)
c.230+13571T=
c.6979T= (p.Leu2327=)
c.6874T= (p.Leu2292=)
c.6865T= (p.Leu2289=)
c.6826T= (p.Leu2276=)
c.6772T= (p.Leu2258=)
c.6676T= (p.Leu2226=)
c.6646T= (p.Leu2216=)
c.6571T= (p.Leu2191=)
c.6469T= (p.Leu2157=)
c.6100T= (p.Leu2034=)
5g.112842544T>ACA16036489APCc.7004T>A (p.Leu2335Ter)
c.*6956T>A (n.*6956T>A)
c.6896T>A (p.Leu2299Ter)
c.6950T>A (p.Leu2317Ter)
c.*6272T>A (n.*6272T>A)
c.230+13572T>A
c.6980T>A (p.Leu2327Ter)
c.6875T>A (p.Leu2292Ter)
c.6866T>A (p.Leu2289Ter)
c.6827T>A (p.Leu2276Ter)
c.6773T>A (p.Leu2258Ter)
c.6677T>A (p.Leu2226Ter)
c.6647T>A (p.Leu2216Ter)
c.6572T>A (p.Leu2191Ter)
c.6470T>A (p.Leu2157Ter)
c.6101T>A (p.Leu2034Ter)
5g.112842544T>CCA046501APCc.7004T>C (p.Leu2335Ser)
c.*6956T>C (n.*6956T>C)
c.6896T>C (p.Leu2299Ser)
c.6950T>C (p.Leu2317Ser)
c.*6272T>C (n.*6272T>C)
c.230+13572T>C
c.6980T>C (p.Leu2327Ser)
c.6875T>C (p.Leu2292Ser)
c.6866T>C (p.Leu2289Ser)
c.6827T>C (p.Leu2276Ser)
c.6773T>C (p.Leu2258Ser)
c.6677T>C (p.Leu2226Ser)
c.6647T>C (p.Leu2216Ser)
c.6572T>C (p.Leu2191Ser)
c.6470T>C (p.Leu2157Ser)
c.6101T>C (p.Leu2034Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842544T>GCA16036490APCc.7004T>G (p.Leu2335Ter)
c.*6956T>G (n.*6956T>G)
c.6896T>G (p.Leu2299Ter)
c.6950T>G (p.Leu2317Ter)
c.*6272T>G (n.*6272T>G)
c.230+13572T>G
c.6980T>G (p.Leu2327Ter)
c.6875T>G (p.Leu2292Ter)
c.6866T>G (p.Leu2289Ter)
c.6827T>G (p.Leu2276Ter)
c.6773T>G (p.Leu2258Ter)
c.6677T>G (p.Leu2226Ter)
c.6647T>G (p.Leu2216Ter)
c.6572T>G (p.Leu2191Ter)
c.6470T>G (p.Leu2157Ter)
c.6101T>G (p.Leu2034Ter)
ClinVar
5g.112842544T=CA1573465483APCc.7004T= (p.Leu2335=)
c.*6956T= (n.*6956T=)
c.6896T= (p.Leu2299=)
c.6950T= (p.Leu2317=)
c.*6272T= (n.*6272T=)
c.230+13572T=
c.6980T= (p.Leu2327=)
c.6875T= (p.Leu2292=)
c.6866T= (p.Leu2289=)
c.6827T= (p.Leu2276=)
c.6773T= (p.Leu2258=)
c.6677T= (p.Leu2226=)
c.6647T= (p.Leu2216=)
c.6572T= (p.Leu2191=)
c.6470T= (p.Leu2157=)
c.6101T= (p.Leu2034=)
5g.112842545A>CCA16036491APCc.7005A>C (p.Leu2335Phe)
c.*6957A>C (n.*6957A>C)
c.6897A>C (p.Leu2299Phe)
c.6951A>C (p.Leu2317Phe)
c.*6273A>C (n.*6273A>C)
c.230+13573A>C
c.6981A>C (p.Leu2327Phe)
c.6876A>C (p.Leu2292Phe)
c.6867A>C (p.Leu2289Phe)
c.6828A>C (p.Leu2276Phe)
c.6774A>C (p.Leu2258Phe)
c.6678A>C (p.Leu2226Phe)
c.6648A>C (p.Leu2216Phe)
c.6573A>C (p.Leu2191Phe)
c.6471A>C (p.Leu2157Phe)
c.6102A>C (p.Leu2034Phe)
5g.112842545A>GCA446210551APCc.7005A>G (p.Leu2335=)
c.*6957A>G (n.*6957A>G)
c.6897A>G (p.Leu2299=)
c.6951A>G (p.Leu2317=)
c.*6273A>G (n.*6273A>G)
c.230+13573A>G
c.6981A>G (p.Leu2327=)
c.6876A>G (p.Leu2292=)
c.6867A>G (p.Leu2289=)
c.6828A>G (p.Leu2276=)
c.6774A>G (p.Leu2258=)
c.6678A>G (p.Leu2226=)
c.6648A>G (p.Leu2216=)
c.6573A>G (p.Leu2191=)
c.6471A>G (p.Leu2157=)
c.6102A>G (p.Leu2034=)
5g.112842545A>TCA16036492APCc.7005A>T (p.Leu2335Phe)
c.*6957A>T (n.*6957A>T)
c.6897A>T (p.Leu2299Phe)
c.6951A>T (p.Leu2317Phe)
c.*6273A>T (n.*6273A>T)
c.230+13573A>T
c.6981A>T (p.Leu2327Phe)
c.6876A>T (p.Leu2292Phe)
c.6867A>T (p.Leu2289Phe)
c.6828A>T (p.Leu2276Phe)
c.6774A>T (p.Leu2258Phe)
c.6678A>T (p.Leu2226Phe)
c.6648A>T (p.Leu2216Phe)
c.6573A>T (p.Leu2191Phe)
c.6471A>T (p.Leu2157Phe)
c.6102A>T (p.Leu2034Phe)
5g.112842546A=CA1573465511APCc.7006A= (p.Ser2336=)
c.*6958A= (n.*6958A=)
c.6898A= (p.Ser2300=)
c.6952A= (p.Ser2318=)
c.*6274A= (n.*6274A=)
c.230+13574A=
c.6982A= (p.Ser2328=)
c.6877A= (p.Ser2293=)
c.6868A= (p.Ser2290=)
c.6829A= (p.Ser2277=)
c.6775A= (p.Ser2259=)
c.6679A= (p.Ser2227=)
c.6649A= (p.Ser2217=)
c.6574A= (p.Ser2192=)
c.6472A= (p.Ser2158=)
c.6103A= (p.Ser2035=)
5g.112842546A>CCA16036493APCc.7006A>C (p.Ser2336Arg)
c.*6958A>C (n.*6958A>C)
c.6898A>C (p.Ser2300Arg)
c.6952A>C (p.Ser2318Arg)
c.*6274A>C (n.*6274A>C)
c.230+13574A>C
c.6982A>C (p.Ser2328Arg)
c.6877A>C (p.Ser2293Arg)
c.6868A>C (p.Ser2290Arg)
c.6829A>C (p.Ser2277Arg)
c.6775A>C (p.Ser2259Arg)
c.6679A>C (p.Ser2227Arg)
c.6649A>C (p.Ser2217Arg)
c.6574A>C (p.Ser2192Arg)
c.6472A>C (p.Ser2158Arg)
c.6103A>C (p.Ser2035Arg)
5g.112842546A>GCA046510APCc.7006A>G (p.Ser2336Gly)
c.*6958A>G (n.*6958A>G)
c.6898A>G (p.Ser2300Gly)
c.6952A>G (p.Ser2318Gly)
c.*6274A>G (n.*6274A>G)
c.230+13574A>G
c.6982A>G (p.Ser2328Gly)
c.6877A>G (p.Ser2293Gly)
c.6868A>G (p.Ser2290Gly)
c.6829A>G (p.Ser2277Gly)
c.6775A>G (p.Ser2259Gly)
c.6679A>G (p.Ser2227Gly)
c.6649A>G (p.Ser2217Gly)
c.6574A>G (p.Ser2192Gly)
c.6472A>G (p.Ser2158Gly)
c.6103A>G (p.Ser2035Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842546A>TCA16036494APCc.7006A>T (p.Ser2336Cys)
c.*6958A>T (n.*6958A>T)
c.6898A>T (p.Ser2300Cys)
c.6952A>T (p.Ser2318Cys)
c.*6274A>T (n.*6274A>T)
c.230+13574A>T
c.6982A>T (p.Ser2328Cys)
c.6877A>T (p.Ser2293Cys)
c.6868A>T (p.Ser2290Cys)
c.6829A>T (p.Ser2277Cys)
c.6775A>T (p.Ser2259Cys)
c.6679A>T (p.Ser2227Cys)
c.6649A>T (p.Ser2217Cys)
c.6574A>T (p.Ser2192Cys)
c.6472A>T (p.Ser2158Cys)
c.6103A>T (p.Ser2035Cys)
dbSNP

Number of alleles fetched