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.112842808_112842814delinsATAATGGCA1573468289APCc.7268_7274delinsATAATGG (p.Asn2423=)
c.*7220_*7226delinsATAATGG (n.*7220_*7226delinsATAATGG)
c.7160_7166delinsATAATGG (p.Asn2387=)
c.7214_7220delinsATAATGG (p.Asn2405=)
c.230+13836_231-13835delinsATAATGG
c.7244_7250delinsATAATGG (p.Asn2415=)
c.7139_7145delinsATAATGG (p.Asn2380=)
c.7130_7136delinsATAATGG (p.Asn2377=)
c.7091_7097delinsATAATGG (p.Asn2364=)
c.7037_7043delinsATAATGG (p.Asn2346=)
c.6941_6947delinsATAATGG (p.Asn2314=)
c.6911_6917delinsATAATGG (p.Asn2304=)
c.6836_6842delinsATAATGG (p.Asn2279=)
c.6734_6740delinsATAATGG (p.Asn2245=)
c.6365_6371delinsATAATGG (p.Asn2122=)
5g.112842809T>ACA16037044APCc.7269T>A (p.Asn2423Lys)
c.*7221T>A (n.*7221T>A)
c.7161T>A (p.Asn2387Lys)
c.7215T>A (p.Asn2405Lys)
c.230+13837T>A
c.7245T>A (p.Asn2415Lys)
c.7140T>A (p.Asn2380Lys)
c.7131T>A (p.Asn2377Lys)
c.7092T>A (p.Asn2364Lys)
c.7038T>A (p.Asn2346Lys)
c.6942T>A (p.Asn2314Lys)
c.6912T>A (p.Asn2304Lys)
c.6837T>A (p.Asn2279Lys)
c.6735T>A (p.Asn2245Lys)
c.6366T>A (p.Asn2122Lys)
5g.112842809T>CCA125167816APCc.7269T>C (p.Asn2423=)
c.*7221T>C (n.*7221T>C)
c.7161T>C (p.Asn2387=)
c.7215T>C (p.Asn2405=)
c.230+13837T>C
c.7245T>C (p.Asn2415=)
c.7140T>C (p.Asn2380=)
c.7131T>C (p.Asn2377=)
c.7092T>C (p.Asn2364=)
c.7038T>C (p.Asn2346=)
c.6942T>C (p.Asn2314=)
c.6912T>C (p.Asn2304=)
c.6837T>C (p.Asn2279=)
c.6735T>C (p.Asn2245=)
c.6366T>C (p.Asn2122=)
ClinVar dbSNP
5g.112842809T>GCA16037045APCc.7269T>G (p.Asn2423Lys)
c.*7221T>G (n.*7221T>G)
c.7161T>G (p.Asn2387Lys)
c.7215T>G (p.Asn2405Lys)
c.230+13837T>G
c.7245T>G (p.Asn2415Lys)
c.7140T>G (p.Asn2380Lys)
c.7131T>G (p.Asn2377Lys)
c.7092T>G (p.Asn2364Lys)
c.7038T>G (p.Asn2346Lys)
c.6942T>G (p.Asn2314Lys)
c.6912T>G (p.Asn2304Lys)
c.6837T>G (p.Asn2279Lys)
c.6735T>G (p.Asn2245Lys)
c.6366T>G (p.Asn2122Lys)
5g.112842809T=CA1573468322APCc.7269T= (p.Asn2423=)
c.*7221T= (n.*7221T=)
c.7161T= (p.Asn2387=)
c.7215T= (p.Asn2405=)
c.230+13837T=
c.7245T= (p.Asn2415=)
c.7140T= (p.Asn2380=)
c.7131T= (p.Asn2377=)
c.7092T= (p.Asn2364=)
c.7038T= (p.Asn2346=)
c.6942T= (p.Asn2314=)
c.6912T= (p.Asn2304=)
c.6837T= (p.Asn2279=)
c.6735T= (p.Asn2245=)
c.6366T= (p.Asn2122=)
5g.112842815_112842820delCA1080214308APCc.7275_7280del (p.Asn2426_Gly2427del)
c.*7227_*7232del (n.*7227_*7232del)
c.7167_7172del (p.Asn2390_Gly2391del)
c.7221_7226del (p.Asn2408_Gly2409del)
c.231-13834_231-13829del
c.7251_7256del (p.Asn2418_Gly2419del)
c.7146_7151del (p.Asn2383_Gly2384del)
c.7137_7142del (p.Asn2380_Gly2381del)
c.7098_7103del (p.Asn2367_Gly2368del)
c.7044_7049del (p.Asn2349_Gly2350del)
c.6948_6953del (p.Asn2317_Gly2318del)
c.6918_6923del (p.Asn2307_Gly2308del)
c.6843_6848del (p.Asn2282_Gly2283del)
c.6741_6746del (p.Asn2248_Gly2249del)
c.6372_6377del (p.Asn2125_Gly2126del)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842810A=CA1573468365APCc.7270A= (p.Asn2424=)
c.*7222A= (n.*7222A=)
c.7162A= (p.Asn2388=)
c.7216A= (p.Asn2406=)
c.231-13839A=
c.7246A= (p.Asn2416=)
c.7141A= (p.Asn2381=)
c.7132A= (p.Asn2378=)
c.7093A= (p.Asn2365=)
c.7039A= (p.Asn2347=)
c.6943A= (p.Asn2315=)
c.6913A= (p.Asn2305=)
c.6838A= (p.Asn2280=)
c.6736A= (p.Asn2246=)
c.6367A= (p.Asn2123=)
5g.112842810A>CCA16037046APCc.7270A>C (p.Asn2424His)
c.*7222A>C (n.*7222A>C)
c.7162A>C (p.Asn2388His)
c.7216A>C (p.Asn2406His)
c.231-13839A>C
c.7246A>C (p.Asn2416His)
c.7141A>C (p.Asn2381His)
c.7132A>C (p.Asn2378His)
c.7093A>C (p.Asn2365His)
c.7039A>C (p.Asn2347His)
c.6943A>C (p.Asn2315His)
c.6913A>C (p.Asn2305His)
c.6838A>C (p.Asn2280His)
c.6736A>C (p.Asn2246His)
c.6367A>C (p.Asn2123His)
5g.112842810A>GCA16037047APCc.7270A>G (p.Asn2424Asp)
c.*7222A>G (n.*7222A>G)
c.7162A>G (p.Asn2388Asp)
c.7216A>G (p.Asn2406Asp)
c.231-13839A>G
c.7246A>G (p.Asn2416Asp)
c.7141A>G (p.Asn2381Asp)
c.7132A>G (p.Asn2378Asp)
c.7093A>G (p.Asn2365Asp)
c.7039A>G (p.Asn2347Asp)
c.6943A>G (p.Asn2315Asp)
c.6913A>G (p.Asn2305Asp)
c.6838A>G (p.Asn2280Asp)
c.6736A>G (p.Asn2246Asp)
c.6367A>G (p.Asn2123Asp)
ClinVar dbSNP
5g.112842810A>TCA16037048APCc.7270A>T (p.Asn2424Tyr)
c.*7222A>T (n.*7222A>T)
c.7162A>T (p.Asn2388Tyr)
c.7216A>T (p.Asn2406Tyr)
c.231-13839A>T
c.7246A>T (p.Asn2416Tyr)
c.7141A>T (p.Asn2381Tyr)
c.7132A>T (p.Asn2378Tyr)
c.7093A>T (p.Asn2365Tyr)
c.7039A>T (p.Asn2347Tyr)
c.6943A>T (p.Asn2315Tyr)
c.6913A>T (p.Asn2305Tyr)
c.6838A>T (p.Asn2280Tyr)
c.6736A>T (p.Asn2246Tyr)
c.6367A>T (p.Asn2123Tyr)
dbSNP
5g.112842811A=CA1573468406APCc.7271A= (p.Asn2424=)
c.*7223A= (n.*7223A=)
c.7163A= (p.Asn2388=)
c.7217A= (p.Asn2406=)
c.231-13838A=
c.7247A= (p.Asn2416=)
c.7142A= (p.Asn2381=)
c.7133A= (p.Asn2378=)
c.7094A= (p.Asn2365=)
c.7040A= (p.Asn2347=)
c.6944A= (p.Asn2315=)
c.6914A= (p.Asn2305=)
c.6839A= (p.Asn2280=)
c.6737A= (p.Asn2246=)
c.6368A= (p.Asn2123=)
5g.112842811A>CCA16037049APCc.7271A>C (p.Asn2424Thr)
c.*7223A>C (n.*7223A>C)
c.7163A>C (p.Asn2388Thr)
c.7217A>C (p.Asn2406Thr)
c.231-13838A>C
c.7247A>C (p.Asn2416Thr)
c.7142A>C (p.Asn2381Thr)
c.7133A>C (p.Asn2378Thr)
c.7094A>C (p.Asn2365Thr)
c.7040A>C (p.Asn2347Thr)
c.6944A>C (p.Asn2315Thr)
c.6914A>C (p.Asn2305Thr)
c.6839A>C (p.Asn2280Thr)
c.6737A>C (p.Asn2246Thr)
c.6368A>C (p.Asn2123Thr)
5g.112842811A>GCA16037050APCc.7271A>G (p.Asn2424Ser)
c.*7223A>G (n.*7223A>G)
c.7163A>G (p.Asn2388Ser)
c.7217A>G (p.Asn2406Ser)
c.231-13838A>G
c.7247A>G (p.Asn2416Ser)
c.7142A>G (p.Asn2381Ser)
c.7133A>G (p.Asn2378Ser)
c.7094A>G (p.Asn2365Ser)
c.7040A>G (p.Asn2347Ser)
c.6944A>G (p.Asn2315Ser)
c.6914A>G (p.Asn2305Ser)
c.6839A>G (p.Asn2280Ser)
c.6737A>G (p.Asn2246Ser)
c.6368A>G (p.Asn2123Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842811A>TCA16037051APCc.7271A>T (p.Asn2424Ile)
c.*7223A>T (n.*7223A>T)
c.7163A>T (p.Asn2388Ile)
c.7217A>T (p.Asn2406Ile)
c.231-13838A>T
c.7247A>T (p.Asn2416Ile)
c.7142A>T (p.Asn2381Ile)
c.7133A>T (p.Asn2378Ile)
c.7094A>T (p.Asn2365Ile)
c.7040A>T (p.Asn2347Ile)
c.6944A>T (p.Asn2315Ile)
c.6914A>T (p.Asn2305Ile)
c.6839A>T (p.Asn2280Ile)
c.6737A>T (p.Asn2246Ile)
c.6368A>T (p.Asn2123Ile)
ClinVar
5g.112842812T>ACA16037052APCc.7272T>A (p.Asn2424Lys)
c.*7224T>A (n.*7224T>A)
c.7164T>A (p.Asn2388Lys)
c.7218T>A (p.Asn2406Lys)
c.231-13837T>A
c.7248T>A (p.Asn2416Lys)
c.7143T>A (p.Asn2381Lys)
c.7134T>A (p.Asn2378Lys)
c.7095T>A (p.Asn2365Lys)
c.7041T>A (p.Asn2347Lys)
c.6945T>A (p.Asn2315Lys)
c.6915T>A (p.Asn2305Lys)
c.6840T>A (p.Asn2280Lys)
c.6738T>A (p.Asn2246Lys)
c.6369T>A (p.Asn2123Lys)
5g.112842812T>CCA446210200APCc.7272T>C (p.Asn2424=)
c.*7224T>C (n.*7224T>C)
c.7164T>C (p.Asn2388=)
c.7218T>C (p.Asn2406=)
c.231-13837T>C
c.7248T>C (p.Asn2416=)
c.7143T>C (p.Asn2381=)
c.7134T>C (p.Asn2378=)
c.7095T>C (p.Asn2365=)
c.7041T>C (p.Asn2347=)
c.6945T>C (p.Asn2315=)
c.6915T>C (p.Asn2305=)
c.6840T>C (p.Asn2280=)
c.6738T>C (p.Asn2246=)
c.6369T>C (p.Asn2123=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842812T>GCA16037053APCc.7272T>G (p.Asn2424Lys)
c.*7224T>G (n.*7224T>G)
c.7164T>G (p.Asn2388Lys)
c.7218T>G (p.Asn2406Lys)
c.231-13837T>G
c.7248T>G (p.Asn2416Lys)
c.7143T>G (p.Asn2381Lys)
c.7134T>G (p.Asn2378Lys)
c.7095T>G (p.Asn2365Lys)
c.7041T>G (p.Asn2347Lys)
c.6945T>G (p.Asn2315Lys)
c.6915T>G (p.Asn2305Lys)
c.6840T>G (p.Asn2280Lys)
c.6738T>G (p.Asn2246Lys)
c.6369T>G (p.Asn2123Lys)
5g.112842812T=CA1573468410APCc.7272T= (p.Asn2424=)
c.*7224T= (n.*7224T=)
c.7164T= (p.Asn2388=)
c.7218T= (p.Asn2406=)
c.231-13837T=
c.7248T= (p.Asn2416=)
c.7143T= (p.Asn2381=)
c.7134T= (p.Asn2378=)
c.7095T= (p.Asn2365=)
c.7041T= (p.Asn2347=)
c.6945T= (p.Asn2315=)
c.6915T= (p.Asn2305=)
c.6840T= (p.Asn2280=)
c.6738T= (p.Asn2246=)
c.6369T= (p.Asn2123=)
5g.112842813G>ACA16037054APCc.7273G>A (p.Gly2425Ser)
c.*7225G>A (n.*7225G>A)
c.7165G>A (p.Gly2389Ser)
c.7219G>A (p.Gly2407Ser)
c.231-13836G>A
c.7249G>A (p.Gly2417Ser)
c.7144G>A (p.Gly2382Ser)
c.7135G>A (p.Gly2379Ser)
c.7096G>A (p.Gly2366Ser)
c.7042G>A (p.Gly2348Ser)
c.6946G>A (p.Gly2316Ser)
c.6916G>A (p.Gly2306Ser)
c.6841G>A (p.Gly2281Ser)
c.6739G>A (p.Gly2247Ser)
c.6370G>A (p.Gly2124Ser)
ClinVar dbSNP gnomAD v4
5g.112842813G>CCA16037055APCc.7273G>C (p.Gly2425Arg)
c.*7225G>C (n.*7225G>C)
c.7165G>C (p.Gly2389Arg)
c.7219G>C (p.Gly2407Arg)
c.231-13836G>C
c.7249G>C (p.Gly2417Arg)
c.7144G>C (p.Gly2382Arg)
c.7135G>C (p.Gly2379Arg)
c.7096G>C (p.Gly2366Arg)
c.7042G>C (p.Gly2348Arg)
c.6946G>C (p.Gly2316Arg)
c.6916G>C (p.Gly2306Arg)
c.6841G>C (p.Gly2281Arg)
c.6739G>C (p.Gly2247Arg)
c.6370G>C (p.Gly2124Arg)
dbSNP
5g.112842813G=CA1573468425APCc.7273G= (p.Gly2425=)
c.*7225G= (n.*7225G=)
c.7165G= (p.Gly2389=)
c.7219G= (p.Gly2407=)
c.231-13836G=
c.7249G= (p.Gly2417=)
c.7144G= (p.Gly2382=)
c.7135G= (p.Gly2379=)
c.7096G= (p.Gly2366=)
c.7042G= (p.Gly2348=)
c.6946G= (p.Gly2316=)
c.6916G= (p.Gly2306=)
c.6841G= (p.Gly2281=)
c.6739G= (p.Gly2247=)
c.6370G= (p.Gly2124=)
5g.112842813G>TCA16037056APCc.7273G>T (p.Gly2425Cys)
c.*7225G>T (n.*7225G>T)
c.7165G>T (p.Gly2389Cys)
c.7219G>T (p.Gly2407Cys)
c.231-13836G>T
c.7249G>T (p.Gly2417Cys)
c.7144G>T (p.Gly2382Cys)
c.7135G>T (p.Gly2379Cys)
c.7096G>T (p.Gly2366Cys)
c.7042G>T (p.Gly2348Cys)
c.6946G>T (p.Gly2316Cys)
c.6916G>T (p.Gly2306Cys)
c.6841G>T (p.Gly2281Cys)
c.6739G>T (p.Gly2247Cys)
c.6370G>T (p.Gly2124Cys)
dbSNP
5g.112842814G>ACA16037057APCc.7274G>A (p.Gly2425Asp)
c.*7226G>A (n.*7226G>A)
c.7166G>A (p.Gly2389Asp)
c.7220G>A (p.Gly2407Asp)
c.231-13835G>A
c.7250G>A (p.Gly2417Asp)
c.7145G>A (p.Gly2382Asp)
c.7136G>A (p.Gly2379Asp)
c.7097G>A (p.Gly2366Asp)
c.7043G>A (p.Gly2348Asp)
c.6947G>A (p.Gly2316Asp)
c.6917G>A (p.Gly2306Asp)
c.6842G>A (p.Gly2281Asp)
c.6740G>A (p.Gly2247Asp)
c.6371G>A (p.Gly2124Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842814G>CCA16037058APCc.7274G>C (p.Gly2425Ala)
c.*7226G>C (n.*7226G>C)
c.7166G>C (p.Gly2389Ala)
c.7220G>C (p.Gly2407Ala)
c.231-13835G>C
c.7250G>C (p.Gly2417Ala)
c.7145G>C (p.Gly2382Ala)
c.7136G>C (p.Gly2379Ala)
c.7097G>C (p.Gly2366Ala)
c.7043G>C (p.Gly2348Ala)
c.6947G>C (p.Gly2316Ala)
c.6917G>C (p.Gly2306Ala)
c.6842G>C (p.Gly2281Ala)
c.6740G>C (p.Gly2247Ala)
c.6371G>C (p.Gly2124Ala)
ClinVar dbSNP
5g.112842814G=CA1573468436APCc.7274G= (p.Gly2425=)
c.*7226G= (n.*7226G=)
c.7166G= (p.Gly2389=)
c.7220G= (p.Gly2407=)
c.231-13835G=
c.7250G= (p.Gly2417=)
c.7145G= (p.Gly2382=)
c.7136G= (p.Gly2379=)
c.7097G= (p.Gly2366=)
c.7043G= (p.Gly2348=)
c.6947G= (p.Gly2316=)
c.6917G= (p.Gly2306=)
c.6842G= (p.Gly2281=)
c.6740G= (p.Gly2247=)
c.6371G= (p.Gly2124=)
5g.112842814G>TCA16037059APCc.7274G>T (p.Gly2425Val)
c.*7226G>T (n.*7226G>T)
c.7166G>T (p.Gly2389Val)
c.7220G>T (p.Gly2407Val)
c.231-13835G>T
c.7250G>T (p.Gly2417Val)
c.7145G>T (p.Gly2382Val)
c.7136G>T (p.Gly2379Val)
c.7097G>T (p.Gly2366Val)
c.7043G>T (p.Gly2348Val)
c.6947G>T (p.Gly2316Val)
c.6917G>T (p.Gly2306Val)
c.6842G>T (p.Gly2281Val)
c.6740G>T (p.Gly2247Val)
c.6371G>T (p.Gly2124Val)
ClinVar dbSNP gnomAD v4
5g.112842815T>ACA446210201APCc.7275T>A (p.Gly2425=)
c.*7227T>A (n.*7227T>A)
c.7167T>A (p.Gly2389=)
c.7221T>A (p.Gly2407=)
c.231-13834T>A
c.7251T>A (p.Gly2417=)
c.7146T>A (p.Gly2382=)
c.7137T>A (p.Gly2379=)
c.7098T>A (p.Gly2366=)
c.7044T>A (p.Gly2348=)
c.6948T>A (p.Gly2316=)
c.6918T>A (p.Gly2306=)
c.6843T>A (p.Gly2281=)
c.6741T>A (p.Gly2247=)
c.6372T>A (p.Gly2124=)
5g.112842815T>CCA446210202APCc.7275T>C (p.Gly2425=)
c.*7227T>C (n.*7227T>C)
c.7167T>C (p.Gly2389=)
c.7221T>C (p.Gly2407=)
c.231-13834T>C
c.7251T>C (p.Gly2417=)
c.7146T>C (p.Gly2382=)
c.7137T>C (p.Gly2379=)
c.7098T>C (p.Gly2366=)
c.7044T>C (p.Gly2348=)
c.6948T>C (p.Gly2316=)
c.6918T>C (p.Gly2306=)
c.6843T>C (p.Gly2281=)
c.6741T>C (p.Gly2247=)
c.6372T>C (p.Gly2124=)
ClinVar
5g.112842815T>GCA446210203APCc.7275T>G (p.Gly2425=)
c.*7227T>G (n.*7227T>G)
c.7167T>G (p.Gly2389=)
c.7221T>G (p.Gly2407=)
c.231-13834T>G
c.7251T>G (p.Gly2417=)
c.7146T>G (p.Gly2382=)
c.7137T>G (p.Gly2379=)
c.7098T>G (p.Gly2366=)
c.7044T>G (p.Gly2348=)
c.6948T>G (p.Gly2316=)
c.6918T>G (p.Gly2306=)
c.6843T>G (p.Gly2281=)
c.6741T>G (p.Gly2247=)
c.6372T>G (p.Gly2124=)
ClinVar dbSNP
5g.112842815T=CA1573468446APCc.7275T= (p.Gly2425=)
c.*7227T= (n.*7227T=)
c.7167T= (p.Gly2389=)
c.7221T= (p.Gly2407=)
c.231-13834T=
c.7251T= (p.Gly2417=)
c.7146T= (p.Gly2382=)
c.7137T= (p.Gly2379=)
c.7098T= (p.Gly2366=)
c.7044T= (p.Gly2348=)
c.6948T= (p.Gly2316=)
c.6918T= (p.Gly2306=)
c.6843T= (p.Gly2281=)
c.6741T= (p.Gly2247=)
c.6372T= (p.Gly2124=)
5g.112842816A>CCA16037060APCc.7276A>C (p.Asn2426His)
c.*7228A>C (n.*7228A>C)
c.7168A>C (p.Asn2390His)
c.7222A>C (p.Asn2408His)
c.231-13833A>C
c.7252A>C (p.Asn2418His)
c.7147A>C (p.Asn2383His)
c.7138A>C (p.Asn2380His)
c.7099A>C (p.Asn2367His)
c.7045A>C (p.Asn2349His)
c.6949A>C (p.Asn2317His)
c.6919A>C (p.Asn2307His)
c.6844A>C (p.Asn2282His)
c.6742A>C (p.Asn2248His)
c.6373A>C (p.Asn2125His)
5g.112842816A>GCA16037061APCc.7276A>G (p.Asn2426Asp)
c.*7228A>G (n.*7228A>G)
c.7168A>G (p.Asn2390Asp)
c.7222A>G (p.Asn2408Asp)
c.231-13833A>G
c.7252A>G (p.Asn2418Asp)
c.7147A>G (p.Asn2383Asp)
c.7138A>G (p.Asn2380Asp)
c.7099A>G (p.Asn2367Asp)
c.7045A>G (p.Asn2349Asp)
c.6949A>G (p.Asn2317Asp)
c.6919A>G (p.Asn2307Asp)
c.6844A>G (p.Asn2282Asp)
c.6742A>G (p.Asn2248Asp)
c.6373A>G (p.Asn2125Asp)
dbSNP
5g.112842816A>TCA16037062APCc.7276A>T (p.Asn2426Tyr)
c.*7228A>T (n.*7228A>T)
c.7168A>T (p.Asn2390Tyr)
c.7222A>T (p.Asn2408Tyr)
c.231-13833A>T
c.7252A>T (p.Asn2418Tyr)
c.7147A>T (p.Asn2383Tyr)
c.7138A>T (p.Asn2380Tyr)
c.7099A>T (p.Asn2367Tyr)
c.7045A>T (p.Asn2349Tyr)
c.6949A>T (p.Asn2317Tyr)
c.6919A>T (p.Asn2307Tyr)
c.6844A>T (p.Asn2282Tyr)
c.6742A>T (p.Asn2248Tyr)
c.6373A>T (p.Asn2125Tyr)
ClinVar dbSNP
5g.112842817A=CA1573468452APCc.7277A= (p.Asn2426=)
c.*7229A= (n.*7229A=)
c.7169A= (p.Asn2390=)
c.7223A= (p.Asn2408=)
c.231-13832A=
c.7253A= (p.Asn2418=)
c.7148A= (p.Asn2383=)
c.7139A= (p.Asn2380=)
c.7100A= (p.Asn2367=)
c.7046A= (p.Asn2349=)
c.6950A= (p.Asn2317=)
c.6920A= (p.Asn2307=)
c.6845A= (p.Asn2282=)
c.6743A= (p.Asn2248=)
c.6374A= (p.Asn2125=)
5g.112842817A>CCA16037063APCc.7277A>C (p.Asn2426Thr)
c.*7229A>C (n.*7229A>C)
c.7169A>C (p.Asn2390Thr)
c.7223A>C (p.Asn2408Thr)
c.231-13832A>C
c.7253A>C (p.Asn2418Thr)
c.7148A>C (p.Asn2383Thr)
c.7139A>C (p.Asn2380Thr)
c.7100A>C (p.Asn2367Thr)
c.7046A>C (p.Asn2349Thr)
c.6950A>C (p.Asn2317Thr)
c.6920A>C (p.Asn2307Thr)
c.6845A>C (p.Asn2282Thr)
c.6743A>C (p.Asn2248Thr)
c.6374A>C (p.Asn2125Thr)
dbSNP
5g.112842817A>GCA16037064APCc.7277A>G (p.Asn2426Ser)
c.*7229A>G (n.*7229A>G)
c.7169A>G (p.Asn2390Ser)
c.7223A>G (p.Asn2408Ser)
c.231-13832A>G
c.7253A>G (p.Asn2418Ser)
c.7148A>G (p.Asn2383Ser)
c.7139A>G (p.Asn2380Ser)
c.7100A>G (p.Asn2367Ser)
c.7046A>G (p.Asn2349Ser)
c.6950A>G (p.Asn2317Ser)
c.6920A>G (p.Asn2307Ser)
c.6845A>G (p.Asn2282Ser)
c.6743A>G (p.Asn2248Ser)
c.6374A>G (p.Asn2125Ser)
ClinVar dbSNP
5g.112842817A>TCA16037065APCc.7277A>T (p.Asn2426Ile)
c.*7229A>T (n.*7229A>T)
c.7169A>T (p.Asn2390Ile)
c.7223A>T (p.Asn2408Ile)
c.231-13832A>T
c.7253A>T (p.Asn2418Ile)
c.7148A>T (p.Asn2383Ile)
c.7139A>T (p.Asn2380Ile)
c.7100A>T (p.Asn2367Ile)
c.7046A>T (p.Asn2349Ile)
c.6950A>T (p.Asn2317Ile)
c.6920A>T (p.Asn2307Ile)
c.6845A>T (p.Asn2282Ile)
c.6743A>T (p.Asn2248Ile)
c.6374A>T (p.Asn2125Ile)
dbSNP
5g.112842818T>ACA16037066APCc.7278T>A (p.Asn2426Lys)
c.*7230T>A (n.*7230T>A)
c.7170T>A (p.Asn2390Lys)
c.7224T>A (p.Asn2408Lys)
c.231-13831T>A
c.7254T>A (p.Asn2418Lys)
c.7149T>A (p.Asn2383Lys)
c.7140T>A (p.Asn2380Lys)
c.7101T>A (p.Asn2367Lys)
c.7047T>A (p.Asn2349Lys)
c.6951T>A (p.Asn2317Lys)
c.6921T>A (p.Asn2307Lys)
c.6846T>A (p.Asn2282Lys)
c.6744T>A (p.Asn2248Lys)
c.6375T>A (p.Asn2125Lys)
5g.112842818T>CCA047266APCc.7278T>C (p.Asn2426=)
c.*7230T>C (n.*7230T>C)
c.7170T>C (p.Asn2390=)
c.7224T>C (p.Asn2408=)
c.231-13831T>C
c.7254T>C (p.Asn2418=)
c.7149T>C (p.Asn2383=)
c.7140T>C (p.Asn2380=)
c.7101T>C (p.Asn2367=)
c.7047T>C (p.Asn2349=)
c.6951T>C (p.Asn2317=)
c.6921T>C (p.Asn2307=)
c.6846T>C (p.Asn2282=)
c.6744T>C (p.Asn2248=)
c.6375T>C (p.Asn2125=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842818T>GCA047275APCc.7278T>G (p.Asn2426Lys)
c.*7230T>G (n.*7230T>G)
c.7170T>G (p.Asn2390Lys)
c.7224T>G (p.Asn2408Lys)
c.231-13831T>G
c.7254T>G (p.Asn2418Lys)
c.7149T>G (p.Asn2383Lys)
c.7140T>G (p.Asn2380Lys)
c.7101T>G (p.Asn2367Lys)
c.7047T>G (p.Asn2349Lys)
c.6951T>G (p.Asn2317Lys)
c.6921T>G (p.Asn2307Lys)
c.6846T>G (p.Asn2282Lys)
c.6744T>G (p.Asn2248Lys)
c.6375T>G (p.Asn2125Lys)
ClinVar dbSNP ExAC gnomAD v2
5g.112842818T=CA1573468461APCc.7278T= (p.Asn2426=)
c.*7230T= (n.*7230T=)
c.7170T= (p.Asn2390=)
c.7224T= (p.Asn2408=)
c.231-13831T=
c.7254T= (p.Asn2418=)
c.7149T= (p.Asn2383=)
c.7140T= (p.Asn2380=)
c.7101T= (p.Asn2367=)
c.7047T= (p.Asn2349=)
c.6951T= (p.Asn2317=)
c.6921T= (p.Asn2307=)
c.6846T= (p.Asn2282=)
c.6744T= (p.Asn2248=)
c.6375T= (p.Asn2125=)
5g.112842818_112842819delinsTGCA1573468462APCc.7278_7279delinsTG (p.Asn2426=)
c.*7230_*7231delinsTG (n.*7230_*7231delinsTG)
c.7170_7171delinsTG (p.Asn2390=)
c.7224_7225delinsTG (p.Asn2408=)
c.231-13831_231-13830delinsTG
c.7254_7255delinsTG (p.Asn2418=)
c.7149_7150delinsTG (p.Asn2383=)
c.7140_7141delinsTG (p.Asn2380=)
c.7101_7102delinsTG (p.Asn2367=)
c.7047_7048delinsTG (p.Asn2349=)
c.6951_6952delinsTG (p.Asn2317=)
c.6921_6922delinsTG (p.Asn2307=)
c.6846_6847delinsTG (p.Asn2282=)
c.6744_6745delinsTG (p.Asn2248=)
c.6375_6376delinsTG (p.Asn2125=)
5g.112842819G>ACA16037067APCc.7279G>A (p.Gly2427Arg)
c.*7231G>A (n.*7231G>A)
c.7171G>A (p.Gly2391Arg)
c.7225G>A (p.Gly2409Arg)
c.231-13830G>A
c.7255G>A (p.Gly2419Arg)
c.7150G>A (p.Gly2384Arg)
c.7141G>A (p.Gly2381Arg)
c.7102G>A (p.Gly2368Arg)
c.7048G>A (p.Gly2350Arg)
c.6952G>A (p.Gly2318Arg)
c.6922G>A (p.Gly2308Arg)
c.6847G>A (p.Gly2283Arg)
c.6745G>A (p.Gly2249Arg)
c.6376G>A (p.Gly2126Arg)
ClinVar dbSNP gnomAD v4
5g.112842819G>CCA16037068APCc.7279G>C (p.Gly2427Arg)
c.*7231G>C (n.*7231G>C)
c.7171G>C (p.Gly2391Arg)
c.7225G>C (p.Gly2409Arg)
c.231-13830G>C
c.7255G>C (p.Gly2419Arg)
c.7150G>C (p.Gly2384Arg)
c.7141G>C (p.Gly2381Arg)
c.7102G>C (p.Gly2368Arg)
c.7048G>C (p.Gly2350Arg)
c.6952G>C (p.Gly2318Arg)
c.6922G>C (p.Gly2308Arg)
c.6847G>C (p.Gly2283Arg)
c.6745G>C (p.Gly2249Arg)
c.6376G>C (p.Gly2126Arg)
5g.112842819G=CA1573468476APCc.7279G= (p.Gly2427=)
c.*7231G= (n.*7231G=)
c.7171G= (p.Gly2391=)
c.7225G= (p.Gly2409=)
c.231-13830G=
c.7255G= (p.Gly2419=)
c.7150G= (p.Gly2384=)
c.7141G= (p.Gly2381=)
c.7102G= (p.Gly2368=)
c.7048G= (p.Gly2350=)
c.6952G= (p.Gly2318=)
c.6922G= (p.Gly2308=)
c.6847G= (p.Gly2283=)
c.6745G= (p.Gly2249=)
c.6376G= (p.Gly2126=)
5g.112842819G>TCA16037069APCc.7279G>T (p.Gly2427Ter)
c.*7231G>T (n.*7231G>T)
c.7171G>T (p.Gly2391Ter)
c.7225G>T (p.Gly2409Ter)
c.231-13830G>T
c.7255G>T (p.Gly2419Ter)
c.7150G>T (p.Gly2384Ter)
c.7141G>T (p.Gly2381Ter)
c.7102G>T (p.Gly2368Ter)
c.7048G>T (p.Gly2350Ter)
c.6952G>T (p.Gly2318Ter)
c.6922G>T (p.Gly2308Ter)
c.6847G>T (p.Gly2283Ter)
c.6745G>T (p.Gly2249Ter)
c.6376G>T (p.Gly2126Ter)
dbSNP
5g.112842820delCA1139659001APCc.7280del (p.Gly2427GlufsTer6)
c.*7232del (n.*7232del)
c.7172del (p.Gly2391GlufsTer6)
c.7226del (p.Gly2409GlufsTer6)
c.231-13829del
c.7256del (p.Gly2419GlufsTer6)
c.7151del (p.Gly2384GlufsTer6)
c.7142del (p.Gly2381GlufsTer6)
c.7103del (p.Gly2368GlufsTer6)
c.7049del (p.Gly2350GlufsTer6)
c.6953del (p.Gly2318GlufsTer6)
c.6923del (p.Gly2308GlufsTer6)
c.6848del (p.Gly2283GlufsTer6)
c.6746del (p.Gly2249GlufsTer6)
c.6377del (p.Gly2126GlufsTer6)
ClinVar dbSNP
5g.112842820G>ACA16037070APCc.7280G>A (p.Gly2427Glu)
c.*7232G>A (n.*7232G>A)
c.7172G>A (p.Gly2391Glu)
c.7226G>A (p.Gly2409Glu)
c.231-13829G>A
c.7256G>A (p.Gly2419Glu)
c.7151G>A (p.Gly2384Glu)
c.7142G>A (p.Gly2381Glu)
c.7103G>A (p.Gly2368Glu)
c.7049G>A (p.Gly2350Glu)
c.6953G>A (p.Gly2318Glu)
c.6923G>A (p.Gly2308Glu)
c.6848G>A (p.Gly2283Glu)
c.6746G>A (p.Gly2249Glu)
c.6377G>A (p.Gly2126Glu)
dbSNP
5g.112842820G>CCA16037071APCc.7280G>C (p.Gly2427Ala)
c.*7232G>C (n.*7232G>C)
c.7172G>C (p.Gly2391Ala)
c.7226G>C (p.Gly2409Ala)
c.231-13829G>C
c.7256G>C (p.Gly2419Ala)
c.7151G>C (p.Gly2384Ala)
c.7142G>C (p.Gly2381Ala)
c.7103G>C (p.Gly2368Ala)
c.7049G>C (p.Gly2350Ala)
c.6953G>C (p.Gly2318Ala)
c.6923G>C (p.Gly2308Ala)
c.6848G>C (p.Gly2283Ala)
c.6746G>C (p.Gly2249Ala)
c.6377G>C (p.Gly2126Ala)
dbSNP
5g.112842820G>TCA16037072APCc.7280G>T (p.Gly2427Val)
c.*7232G>T (n.*7232G>T)
c.7172G>T (p.Gly2391Val)
c.7226G>T (p.Gly2409Val)
c.231-13829G>T
c.7256G>T (p.Gly2419Val)
c.7151G>T (p.Gly2384Val)
c.7142G>T (p.Gly2381Val)
c.7103G>T (p.Gly2368Val)
c.7049G>T (p.Gly2350Val)
c.6953G>T (p.Gly2318Val)
c.6923G>T (p.Gly2308Val)
c.6848G>T (p.Gly2283Val)
c.6746G>T (p.Gly2249Val)
c.6377G>T (p.Gly2126Val)
dbSNP
5g.112842821A>CCA446210205APCc.7281A>C (p.Gly2427=)
c.*7233A>C (n.*7233A>C)
c.7173A>C (p.Gly2391=)
c.7227A>C (p.Gly2409=)
c.231-13828A>C
c.7257A>C (p.Gly2419=)
c.7152A>C (p.Gly2384=)
c.7143A>C (p.Gly2381=)
c.7104A>C (p.Gly2368=)
c.7050A>C (p.Gly2350=)
c.6954A>C (p.Gly2318=)
c.6924A>C (p.Gly2308=)
c.6849A>C (p.Gly2283=)
c.6747A>C (p.Gly2249=)
c.6378A>C (p.Gly2126=)
5g.112842821A>GCA446210206APCc.7281A>G (p.Gly2427=)
c.*7233A>G (n.*7233A>G)
c.7173A>G (p.Gly2391=)
c.7227A>G (p.Gly2409=)
c.231-13828A>G
c.7257A>G (p.Gly2419=)
c.7152A>G (p.Gly2384=)
c.7143A>G (p.Gly2381=)
c.7104A>G (p.Gly2368=)
c.7050A>G (p.Gly2350=)
c.6954A>G (p.Gly2318=)
c.6924A>G (p.Gly2308=)
c.6849A>G (p.Gly2283=)
c.6747A>G (p.Gly2249=)
c.6378A>G (p.Gly2126=)
dbSNP
5g.112842821A>TCA446210207APCc.7281A>T (p.Gly2427=)
c.*7233A>T (n.*7233A>T)
c.7173A>T (p.Gly2391=)
c.7227A>T (p.Gly2409=)
c.231-13828A>T
c.7257A>T (p.Gly2419=)
c.7152A>T (p.Gly2384=)
c.7143A>T (p.Gly2381=)
c.7104A>T (p.Gly2368=)
c.7050A>T (p.Gly2350=)
c.6954A>T (p.Gly2318=)
c.6924A>T (p.Gly2308=)
c.6849A>T (p.Gly2283=)
c.6747A>T (p.Gly2249=)
c.6378A>T (p.Gly2126=)
dbSNP
5g.112842822G>ACA16037073APCc.7282G>A (p.Ala2428Thr)
c.*7234G>A (n.*7234G>A)
c.7174G>A (p.Ala2392Thr)
c.7228G>A (p.Ala2410Thr)
c.231-13827G>A
c.7258G>A (p.Ala2420Thr)
c.7153G>A (p.Ala2385Thr)
c.7144G>A (p.Ala2382Thr)
c.7105G>A (p.Ala2369Thr)
c.7051G>A (p.Ala2351Thr)
c.6955G>A (p.Ala2319Thr)
c.6925G>A (p.Ala2309Thr)
c.6850G>A (p.Ala2284Thr)
c.6748G>A (p.Ala2250Thr)
c.6379G>A (p.Ala2127Thr)
ClinVar dbSNP gnomAD v4
5g.112842822G>CCA16037074APCc.7282G>C (p.Ala2428Pro)
c.*7234G>C (n.*7234G>C)
c.7174G>C (p.Ala2392Pro)
c.7228G>C (p.Ala2410Pro)
c.231-13827G>C
c.7258G>C (p.Ala2420Pro)
c.7153G>C (p.Ala2385Pro)
c.7144G>C (p.Ala2382Pro)
c.7105G>C (p.Ala2369Pro)
c.7051G>C (p.Ala2351Pro)
c.6955G>C (p.Ala2319Pro)
c.6925G>C (p.Ala2309Pro)
c.6850G>C (p.Ala2284Pro)
c.6748G>C (p.Ala2250Pro)
c.6379G>C (p.Ala2127Pro)
5g.112842822G=CA1573468489APCc.7282G= (p.Ala2428=)
c.*7234G= (n.*7234G=)
c.7174G= (p.Ala2392=)
c.7228G= (p.Ala2410=)
c.231-13827G=
c.7258G= (p.Ala2420=)
c.7153G= (p.Ala2385=)
c.7144G= (p.Ala2382=)
c.7105G= (p.Ala2369=)
c.7051G= (p.Ala2351=)
c.6955G= (p.Ala2319=)
c.6925G= (p.Ala2309=)
c.6850G= (p.Ala2284=)
c.6748G= (p.Ala2250=)
c.6379G= (p.Ala2127=)
5g.112842822G>TCA16037075APCc.7282G>T (p.Ala2428Ser)
c.*7234G>T (n.*7234G>T)
c.7174G>T (p.Ala2392Ser)
c.7228G>T (p.Ala2410Ser)
c.231-13827G>T
c.7258G>T (p.Ala2420Ser)
c.7153G>T (p.Ala2385Ser)
c.7144G>T (p.Ala2382Ser)
c.7105G>T (p.Ala2369Ser)
c.7051G>T (p.Ala2351Ser)
c.6955G>T (p.Ala2319Ser)
c.6925G>T (p.Ala2309Ser)
c.6850G>T (p.Ala2284Ser)
c.6748G>T (p.Ala2250Ser)
c.6379G>T (p.Ala2127Ser)
5g.112842823C>ACA16037076APCc.7283C>A (p.Ala2428Asp)
c.*7235C>A (n.*7235C>A)
c.7175C>A (p.Ala2392Asp)
c.7229C>A (p.Ala2410Asp)
c.231-13826C>A
c.7259C>A (p.Ala2420Asp)
c.7154C>A (p.Ala2385Asp)
c.7145C>A (p.Ala2382Asp)
c.7106C>A (p.Ala2369Asp)
c.7052C>A (p.Ala2351Asp)
c.6956C>A (p.Ala2319Asp)
c.6926C>A (p.Ala2309Asp)
c.6851C>A (p.Ala2284Asp)
c.6749C>A (p.Ala2250Asp)
c.6380C>A (p.Ala2127Asp)
5g.112842823C=CA1573468505APCc.7283C= (p.Ala2428=)
c.*7235C= (n.*7235C=)
c.7175C= (p.Ala2392=)
c.7229C= (p.Ala2410=)
c.231-13826C=
c.7259C= (p.Ala2420=)
c.7154C= (p.Ala2385=)
c.7145C= (p.Ala2382=)
c.7106C= (p.Ala2369=)
c.7052C= (p.Ala2351=)
c.6956C= (p.Ala2319=)
c.6926C= (p.Ala2309=)
c.6851C= (p.Ala2284=)
c.6749C= (p.Ala2250=)
c.6380C= (p.Ala2127=)
5g.112842823C>GCA16037077APCc.7283C>G (p.Ala2428Gly)
c.*7235C>G (n.*7235C>G)
c.7175C>G (p.Ala2392Gly)
c.7229C>G (p.Ala2410Gly)
c.231-13826C>G
c.7259C>G (p.Ala2420Gly)
c.7154C>G (p.Ala2385Gly)
c.7145C>G (p.Ala2382Gly)
c.7106C>G (p.Ala2369Gly)
c.7052C>G (p.Ala2351Gly)
c.6956C>G (p.Ala2319Gly)
c.6926C>G (p.Ala2309Gly)
c.6851C>G (p.Ala2284Gly)
c.6749C>G (p.Ala2250Gly)
c.6380C>G (p.Ala2127Gly)
ClinVar dbSNP
5g.112842823C>TCA16037078APCc.7283C>T (p.Ala2428Val)
c.*7235C>T (n.*7235C>T)
c.7175C>T (p.Ala2392Val)
c.7229C>T (p.Ala2410Val)
c.231-13826C>T
c.7259C>T (p.Ala2420Val)
c.7154C>T (p.Ala2385Val)
c.7145C>T (p.Ala2382Val)
c.7106C>T (p.Ala2369Val)
c.7052C>T (p.Ala2351Val)
c.6956C>T (p.Ala2319Val)
c.6926C>T (p.Ala2309Val)
c.6851C>T (p.Ala2284Val)
c.6749C>T (p.Ala2250Val)
c.6380C>T (p.Ala2127Val)
5g.112842824C>ACA446210208APCc.7284C>A (p.Ala2428=)
c.*7236C>A (n.*7236C>A)
c.7176C>A (p.Ala2392=)
c.7230C>A (p.Ala2410=)
c.231-13825C>A
c.7260C>A (p.Ala2420=)
c.7155C>A (p.Ala2385=)
c.7146C>A (p.Ala2382=)
c.7107C>A (p.Ala2369=)
c.7053C>A (p.Ala2351=)
c.6957C>A (p.Ala2319=)
c.6927C>A (p.Ala2309=)
c.6852C>A (p.Ala2284=)
c.6750C>A (p.Ala2250=)
c.6381C>A (p.Ala2127=)
dbSNP
5g.112842824C>GCA446210209APCc.7284C>G (p.Ala2428=)
c.*7236C>G (n.*7236C>G)
c.7176C>G (p.Ala2392=)
c.7230C>G (p.Ala2410=)
c.231-13825C>G
c.7260C>G (p.Ala2420=)
c.7155C>G (p.Ala2385=)
c.7146C>G (p.Ala2382=)
c.7107C>G (p.Ala2369=)
c.7053C>G (p.Ala2351=)
c.6957C>G (p.Ala2319=)
c.6927C>G (p.Ala2309=)
c.6852C>G (p.Ala2284=)
c.6750C>G (p.Ala2250=)
c.6381C>G (p.Ala2127=)
ClinVar dbSNP
5g.112842824C>TCA446210210APCc.7284C>T (p.Ala2428=)
c.*7236C>T (n.*7236C>T)
c.7176C>T (p.Ala2392=)
c.7230C>T (p.Ala2410=)
c.231-13825C>T
c.7260C>T (p.Ala2420=)
c.7155C>T (p.Ala2385=)
c.7146C>T (p.Ala2382=)
c.7107C>T (p.Ala2369=)
c.7053C>T (p.Ala2351=)
c.6957C>T (p.Ala2319=)
c.6927C>T (p.Ala2309=)
c.6852C>T (p.Ala2284=)
c.6750C>T (p.Ala2250=)
c.6381C>T (p.Ala2127=)
dbSNP gnomAD v4
5g.112842825A=CA1573468511APCc.7285A= (p.Asn2429=)
c.*7237A= (n.*7237A=)
c.7177A= (p.Asn2393=)
c.7231A= (p.Asn2411=)
c.231-13824A=
c.7261A= (p.Asn2421=)
c.7156A= (p.Asn2386=)
c.7147A= (p.Asn2383=)
c.7108A= (p.Asn2370=)
c.7054A= (p.Asn2352=)
c.6958A= (p.Asn2320=)
c.6928A= (p.Asn2310=)
c.6853A= (p.Asn2285=)
c.6751A= (p.Asn2251=)
c.6382A= (p.Asn2128=)
5g.112842825A>CCA16037079APCc.7285A>C (p.Asn2429His)
c.*7237A>C (n.*7237A>C)
c.7177A>C (p.Asn2393His)
c.7231A>C (p.Asn2411His)
c.231-13824A>C
c.7261A>C (p.Asn2421His)
c.7156A>C (p.Asn2386His)
c.7147A>C (p.Asn2383His)
c.7108A>C (p.Asn2370His)
c.7054A>C (p.Asn2352His)
c.6958A>C (p.Asn2320His)
c.6928A>C (p.Asn2310His)
c.6853A>C (p.Asn2285His)
c.6751A>C (p.Asn2251His)
c.6382A>C (p.Asn2128His)
dbSNP gnomAD v2
5g.112842825A>GCA16037080APCc.7285A>G (p.Asn2429Asp)
c.*7237A>G (n.*7237A>G)
c.7177A>G (p.Asn2393Asp)
c.7231A>G (p.Asn2411Asp)
c.231-13824A>G
c.7261A>G (p.Asn2421Asp)
c.7156A>G (p.Asn2386Asp)
c.7147A>G (p.Asn2383Asp)
c.7108A>G (p.Asn2370Asp)
c.7054A>G (p.Asn2352Asp)
c.6958A>G (p.Asn2320Asp)
c.6928A>G (p.Asn2310Asp)
c.6853A>G (p.Asn2285Asp)
c.6751A>G (p.Asn2251Asp)
c.6382A>G (p.Asn2128Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842825A>TCA16037081APCc.7285A>T (p.Asn2429Tyr)
c.*7237A>T (n.*7237A>T)
c.7177A>T (p.Asn2393Tyr)
c.7231A>T (p.Asn2411Tyr)
c.231-13824A>T
c.7261A>T (p.Asn2421Tyr)
c.7156A>T (p.Asn2386Tyr)
c.7147A>T (p.Asn2383Tyr)
c.7108A>T (p.Asn2370Tyr)
c.7054A>T (p.Asn2352Tyr)
c.6958A>T (p.Asn2320Tyr)
c.6928A>T (p.Asn2310Tyr)
c.6853A>T (p.Asn2285Tyr)
c.6751A>T (p.Asn2251Tyr)
c.6382A>T (p.Asn2128Tyr)
dbSNP
5g.112842826A=CA1573468517APCc.7286A= (p.Asn2429=)
c.*7238A= (n.*7238A=)
c.7178A= (p.Asn2393=)
c.7232A= (p.Asn2411=)
c.231-13823A=
c.7262A= (p.Asn2421=)
c.7157A= (p.Asn2386=)
c.7148A= (p.Asn2383=)
c.7109A= (p.Asn2370=)
c.7055A= (p.Asn2352=)
c.6959A= (p.Asn2320=)
c.6929A= (p.Asn2310=)
c.6854A= (p.Asn2285=)
c.6752A= (p.Asn2251=)
c.6383A= (p.Asn2128=)
5g.112842826A>CCA16037082APCc.7286A>C (p.Asn2429Thr)
c.*7238A>C (n.*7238A>C)
c.7178A>C (p.Asn2393Thr)
c.7232A>C (p.Asn2411Thr)
c.231-13823A>C
c.7262A>C (p.Asn2421Thr)
c.7157A>C (p.Asn2386Thr)
c.7148A>C (p.Asn2383Thr)
c.7109A>C (p.Asn2370Thr)
c.7055A>C (p.Asn2352Thr)
c.6959A>C (p.Asn2320Thr)
c.6929A>C (p.Asn2310Thr)
c.6854A>C (p.Asn2285Thr)
c.6752A>C (p.Asn2251Thr)
c.6383A>C (p.Asn2128Thr)
gnomAD v4
5g.112842826A>GCA16037083APCc.7286A>G (p.Asn2429Ser)
c.*7238A>G (n.*7238A>G)
c.7178A>G (p.Asn2393Ser)
c.7232A>G (p.Asn2411Ser)
c.231-13823A>G
c.7262A>G (p.Asn2421Ser)
c.7157A>G (p.Asn2386Ser)
c.7148A>G (p.Asn2383Ser)
c.7109A>G (p.Asn2370Ser)
c.7055A>G (p.Asn2352Ser)
c.6959A>G (p.Asn2320Ser)
c.6929A>G (p.Asn2310Ser)
c.6854A>G (p.Asn2285Ser)
c.6752A>G (p.Asn2251Ser)
c.6383A>G (p.Asn2128Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842826A>TCA16037084APCc.7286A>T (p.Asn2429Ile)
c.*7238A>T (n.*7238A>T)
c.7178A>T (p.Asn2393Ile)
c.7232A>T (p.Asn2411Ile)
c.231-13823A>T
c.7262A>T (p.Asn2421Ile)
c.7157A>T (p.Asn2386Ile)
c.7148A>T (p.Asn2383Ile)
c.7109A>T (p.Asn2370Ile)
c.7055A>T (p.Asn2352Ile)
c.6959A>T (p.Asn2320Ile)
c.6929A>T (p.Asn2310Ile)
c.6854A>T (p.Asn2285Ile)
c.6752A>T (p.Asn2251Ile)
c.6383A>T (p.Asn2128Ile)
5g.112842827T>ACA16037085APCc.7287T>A (p.Asn2429Lys)
c.*7239T>A (n.*7239T>A)
c.7179T>A (p.Asn2393Lys)
c.7233T>A (p.Asn2411Lys)
c.231-13822T>A
c.7263T>A (p.Asn2421Lys)
c.7158T>A (p.Asn2386Lys)
c.7149T>A (p.Asn2383Lys)
c.7110T>A (p.Asn2370Lys)
c.7056T>A (p.Asn2352Lys)
c.6960T>A (p.Asn2320Lys)
c.6930T>A (p.Asn2310Lys)
c.6855T>A (p.Asn2285Lys)
c.6753T>A (p.Asn2251Lys)
c.6384T>A (p.Asn2128Lys)
5g.112842827T>CCA446210211APCc.7287T>C (p.Asn2429=)
c.*7239T>C (n.*7239T>C)
c.7179T>C (p.Asn2393=)
c.7233T>C (p.Asn2411=)
c.231-13822T>C
c.7263T>C (p.Asn2421=)
c.7158T>C (p.Asn2386=)
c.7149T>C (p.Asn2383=)
c.7110T>C (p.Asn2370=)
c.7056T>C (p.Asn2352=)
c.6960T>C (p.Asn2320=)
c.6930T>C (p.Asn2310=)
c.6855T>C (p.Asn2285=)
c.6753T>C (p.Asn2251=)
c.6384T>C (p.Asn2128=)
5g.112842827T>GCA16037086APCc.7287T>G (p.Asn2429Lys)
c.*7239T>G (n.*7239T>G)
c.7179T>G (p.Asn2393Lys)
c.7233T>G (p.Asn2411Lys)
c.231-13822T>G
c.7263T>G (p.Asn2421Lys)
c.7158T>G (p.Asn2386Lys)
c.7149T>G (p.Asn2383Lys)
c.7110T>G (p.Asn2370Lys)
c.7056T>G (p.Asn2352Lys)
c.6960T>G (p.Asn2320Lys)
c.6930T>G (p.Asn2310Lys)
c.6855T>G (p.Asn2285Lys)
c.6753T>G (p.Asn2251Lys)
c.6384T>G (p.Asn2128Lys)
ClinVar
5g.112842828A=CA1573468523APCc.7288A= (p.Lys2430=)
c.*7240A= (n.*7240A=)
c.7180A= (p.Lys2394=)
c.7234A= (p.Lys2412=)
c.231-13821A=
c.7264A= (p.Lys2422=)
c.7159A= (p.Lys2387=)
c.7150A= (p.Lys2384=)
c.7111A= (p.Lys2371=)
c.7057A= (p.Lys2353=)
c.6961A= (p.Lys2321=)
c.6931A= (p.Lys2311=)
c.6856A= (p.Lys2286=)
c.6754A= (p.Lys2252=)
c.6385A= (p.Lys2129=)
5g.112842828A>CCA16037087APCc.7288A>C (p.Lys2430Gln)
c.*7240A>C (n.*7240A>C)
c.7180A>C (p.Lys2394Gln)
c.7234A>C (p.Lys2412Gln)
c.231-13821A>C
c.7264A>C (p.Lys2422Gln)
c.7159A>C (p.Lys2387Gln)
c.7150A>C (p.Lys2384Gln)
c.7111A>C (p.Lys2371Gln)
c.7057A>C (p.Lys2353Gln)
c.6961A>C (p.Lys2321Gln)
c.6931A>C (p.Lys2311Gln)
c.6856A>C (p.Lys2286Gln)
c.6754A>C (p.Lys2252Gln)
c.6385A>C (p.Lys2129Gln)
5g.112842828A>GCA16037088APCc.7288A>G (p.Lys2430Glu)
c.*7240A>G (n.*7240A>G)
c.7180A>G (p.Lys2394Glu)
c.7234A>G (p.Lys2412Glu)
c.231-13821A>G
c.7264A>G (p.Lys2422Glu)
c.7159A>G (p.Lys2387Glu)
c.7150A>G (p.Lys2384Glu)
c.7111A>G (p.Lys2371Glu)
c.7057A>G (p.Lys2353Glu)
c.6961A>G (p.Lys2321Glu)
c.6931A>G (p.Lys2311Glu)
c.6856A>G (p.Lys2286Glu)
c.6754A>G (p.Lys2252Glu)
c.6385A>G (p.Lys2129Glu)
ClinVar dbSNP
5g.112842828A>TCA16037089APCc.7288A>T (p.Lys2430Ter)
c.*7240A>T (n.*7240A>T)
c.7180A>T (p.Lys2394Ter)
c.7234A>T (p.Lys2412Ter)
c.231-13821A>T
c.7264A>T (p.Lys2422Ter)
c.7159A>T (p.Lys2387Ter)
c.7150A>T (p.Lys2384Ter)
c.7111A>T (p.Lys2371Ter)
c.7057A>T (p.Lys2353Ter)
c.6961A>T (p.Lys2321Ter)
c.6931A>T (p.Lys2311Ter)
c.6856A>T (p.Lys2286Ter)
c.6754A>T (p.Lys2252Ter)
c.6385A>T (p.Lys2129Ter)
dbSNP
5g.112842829A=CA1573468529APCc.7289A= (p.Lys2430=)
c.*7241A= (n.*7241A=)
c.7181A= (p.Lys2394=)
c.7235A= (p.Lys2412=)
c.231-13820A=
c.7265A= (p.Lys2422=)
c.7160A= (p.Lys2387=)
c.7151A= (p.Lys2384=)
c.7112A= (p.Lys2371=)
c.7058A= (p.Lys2353=)
c.6962A= (p.Lys2321=)
c.6932A= (p.Lys2311=)
c.6857A= (p.Lys2286=)
c.6755A= (p.Lys2252=)
c.6386A= (p.Lys2129=)
5g.112842829A>CCA16037090APCc.7289A>C (p.Lys2430Thr)
c.*7241A>C (n.*7241A>C)
c.7181A>C (p.Lys2394Thr)
c.7235A>C (p.Lys2412Thr)
c.231-13820A>C
c.7265A>C (p.Lys2422Thr)
c.7160A>C (p.Lys2387Thr)
c.7151A>C (p.Lys2384Thr)
c.7112A>C (p.Lys2371Thr)
c.7058A>C (p.Lys2353Thr)
c.6962A>C (p.Lys2321Thr)
c.6932A>C (p.Lys2311Thr)
c.6857A>C (p.Lys2286Thr)
c.6755A>C (p.Lys2252Thr)
c.6386A>C (p.Lys2129Thr)
gnomAD v4
5g.112842829A>GCA353522APCc.7289A>G (p.Lys2430Arg)
c.*7241A>G (n.*7241A>G)
c.7181A>G (p.Lys2394Arg)
c.7235A>G (p.Lys2412Arg)
c.231-13820A>G
c.7265A>G (p.Lys2422Arg)
c.7160A>G (p.Lys2387Arg)
c.7151A>G (p.Lys2384Arg)
c.7112A>G (p.Lys2371Arg)
c.7058A>G (p.Lys2353Arg)
c.6962A>G (p.Lys2321Arg)
c.6932A>G (p.Lys2311Arg)
c.6857A>G (p.Lys2286Arg)
c.6755A>G (p.Lys2252Arg)
c.6386A>G (p.Lys2129Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842829A>TCA16037091APCc.7289A>T (p.Lys2430Ile)
c.*7241A>T (n.*7241A>T)
c.7181A>T (p.Lys2394Ile)
c.7235A>T (p.Lys2412Ile)
c.231-13820A>T
c.7265A>T (p.Lys2422Ile)
c.7160A>T (p.Lys2387Ile)
c.7151A>T (p.Lys2384Ile)
c.7112A>T (p.Lys2371Ile)
c.7058A>T (p.Lys2353Ile)
c.6962A>T (p.Lys2321Ile)
c.6932A>T (p.Lys2311Ile)
c.6857A>T (p.Lys2286Ile)
c.6755A>T (p.Lys2252Ile)
c.6386A>T (p.Lys2129Ile)
dbSNP
5g.112842830A=CA1573468541APCc.7290A= (p.Lys2430=)
c.*7242A= (n.*7242A=)
c.7182A= (p.Lys2394=)
c.7236A= (p.Lys2412=)
c.231-13819A=
c.7266A= (p.Lys2422=)
c.7161A= (p.Lys2387=)
c.7152A= (p.Lys2384=)
c.7113A= (p.Lys2371=)
c.7059A= (p.Lys2353=)
c.6963A= (p.Lys2321=)
c.6933A= (p.Lys2311=)
c.6858A= (p.Lys2286=)
c.6756A= (p.Lys2252=)
c.6387A= (p.Lys2129=)
5g.112842830A>CCA16037092APCc.7290A>C (p.Lys2430Asn)
c.*7242A>C (n.*7242A>C)
c.7182A>C (p.Lys2394Asn)
c.7236A>C (p.Lys2412Asn)
c.231-13819A>C
c.7266A>C (p.Lys2422Asn)
c.7161A>C (p.Lys2387Asn)
c.7152A>C (p.Lys2384Asn)
c.7113A>C (p.Lys2371Asn)
c.7059A>C (p.Lys2353Asn)
c.6963A>C (p.Lys2321Asn)
c.6933A>C (p.Lys2311Asn)
c.6858A>C (p.Lys2286Asn)
c.6756A>C (p.Lys2252Asn)
c.6387A>C (p.Lys2129Asn)
dbSNP
5g.112842830A>GCA446210212APCc.7290A>G (p.Lys2430=)
c.*7242A>G (n.*7242A>G)
c.7182A>G (p.Lys2394=)
c.7236A>G (p.Lys2412=)
c.231-13819A>G
c.7266A>G (p.Lys2422=)
c.7161A>G (p.Lys2387=)
c.7152A>G (p.Lys2384=)
c.7113A>G (p.Lys2371=)
c.7059A>G (p.Lys2353=)
c.6963A>G (p.Lys2321=)
c.6933A>G (p.Lys2311=)
c.6858A>G (p.Lys2286=)
c.6756A>G (p.Lys2252=)
c.6387A>G (p.Lys2129=)
gnomAD v4
5g.112842830A>TCA16037093APCc.7290A>T (p.Lys2430Asn)
c.*7242A>T (n.*7242A>T)
c.7182A>T (p.Lys2394Asn)
c.7236A>T (p.Lys2412Asn)
c.231-13819A>T
c.7266A>T (p.Lys2422Asn)
c.7161A>T (p.Lys2387Asn)
c.7152A>T (p.Lys2384Asn)
c.7113A>T (p.Lys2371Asn)
c.7059A>T (p.Lys2353Asn)
c.6963A>T (p.Lys2321Asn)
c.6933A>T (p.Lys2311Asn)
c.6858A>T (p.Lys2286Asn)
c.6756A>T (p.Lys2252Asn)
c.6387A>T (p.Lys2129Asn)
ClinVar dbSNP
5g.112842831A=CA1573468549APCc.7291A= (p.Lys2431=)
c.*7243A= (n.*7243A=)
c.7183A= (p.Lys2395=)
c.7237A= (p.Lys2413=)
c.231-13818A=
c.7267A= (p.Lys2423=)
c.7162A= (p.Lys2388=)
c.7153A= (p.Lys2385=)
c.7114A= (p.Lys2372=)
c.7060A= (p.Lys2354=)
c.6964A= (p.Lys2322=)
c.6934A= (p.Lys2312=)
c.6859A= (p.Lys2287=)
c.6757A= (p.Lys2253=)
c.6388A= (p.Lys2130=)
5g.112842831A>CCA16037094APCc.7291A>C (p.Lys2431Gln)
c.*7243A>C (n.*7243A>C)
c.7183A>C (p.Lys2395Gln)
c.7237A>C (p.Lys2413Gln)
c.231-13818A>C
c.7267A>C (p.Lys2423Gln)
c.7162A>C (p.Lys2388Gln)
c.7153A>C (p.Lys2385Gln)
c.7114A>C (p.Lys2372Gln)
c.7060A>C (p.Lys2354Gln)
c.6964A>C (p.Lys2322Gln)
c.6934A>C (p.Lys2312Gln)
c.6859A>C (p.Lys2287Gln)
c.6757A>C (p.Lys2253Gln)
c.6388A>C (p.Lys2130Gln)
ClinVar dbSNP
5g.112842831A>GCA047287APCc.7291A>G (p.Lys2431Glu)
c.*7243A>G (n.*7243A>G)
c.7183A>G (p.Lys2395Glu)
c.7237A>G (p.Lys2413Glu)
c.231-13818A>G
c.7267A>G (p.Lys2423Glu)
c.7162A>G (p.Lys2388Glu)
c.7153A>G (p.Lys2385Glu)
c.7114A>G (p.Lys2372Glu)
c.7060A>G (p.Lys2354Glu)
c.6964A>G (p.Lys2322Glu)
c.6934A>G (p.Lys2312Glu)
c.6859A>G (p.Lys2287Glu)
c.6757A>G (p.Lys2253Glu)
c.6388A>G (p.Lys2130Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842831A>TCA16037095APCc.7291A>T (p.Lys2431Ter)
c.*7243A>T (n.*7243A>T)
c.7183A>T (p.Lys2395Ter)
c.7237A>T (p.Lys2413Ter)
c.231-13818A>T
c.7267A>T (p.Lys2423Ter)
c.7162A>T (p.Lys2388Ter)
c.7153A>T (p.Lys2385Ter)
c.7114A>T (p.Lys2372Ter)
c.7060A>T (p.Lys2354Ter)
c.6964A>T (p.Lys2322Ter)
c.6934A>T (p.Lys2312Ter)
c.6859A>T (p.Lys2287Ter)
c.6757A>T (p.Lys2253Ter)
c.6388A>T (p.Lys2130Ter)
dbSNP
5g.112842832A=CA1573468597APCc.7292A= (p.Lys2431=)
c.*7244A= (n.*7244A=)
c.7184A= (p.Lys2395=)
c.7238A= (p.Lys2413=)
c.231-13817A=
c.7268A= (p.Lys2423=)
c.7163A= (p.Lys2388=)
c.7154A= (p.Lys2385=)
c.7115A= (p.Lys2372=)
c.7061A= (p.Lys2354=)
c.6965A= (p.Lys2322=)
c.6935A= (p.Lys2312=)
c.6860A= (p.Lys2287=)
c.6758A= (p.Lys2253=)
c.6389A= (p.Lys2130=)
5g.112842832A>CCA16037096APCc.7292A>C (p.Lys2431Thr)
c.*7244A>C (n.*7244A>C)
c.7184A>C (p.Lys2395Thr)
c.7238A>C (p.Lys2413Thr)
c.231-13817A>C
c.7268A>C (p.Lys2423Thr)
c.7163A>C (p.Lys2388Thr)
c.7154A>C (p.Lys2385Thr)
c.7115A>C (p.Lys2372Thr)
c.7061A>C (p.Lys2354Thr)
c.6965A>C (p.Lys2322Thr)
c.6935A>C (p.Lys2312Thr)
c.6860A>C (p.Lys2287Thr)
c.6758A>C (p.Lys2253Thr)
c.6389A>C (p.Lys2130Thr)
ClinVar dbSNP
5g.112842832A>GCA16037097APCc.7292A>G (p.Lys2431Arg)
c.*7244A>G (n.*7244A>G)
c.7184A>G (p.Lys2395Arg)
c.7238A>G (p.Lys2413Arg)
c.231-13817A>G
c.7268A>G (p.Lys2423Arg)
c.7163A>G (p.Lys2388Arg)
c.7154A>G (p.Lys2385Arg)
c.7115A>G (p.Lys2372Arg)
c.7061A>G (p.Lys2354Arg)
c.6965A>G (p.Lys2322Arg)
c.6935A>G (p.Lys2312Arg)
c.6860A>G (p.Lys2287Arg)
c.6758A>G (p.Lys2253Arg)
c.6389A>G (p.Lys2130Arg)
dbSNP
5g.112842832A>TCA16037098APCc.7292A>T (p.Lys2431Met)
c.*7244A>T (n.*7244A>T)
c.7184A>T (p.Lys2395Met)
c.7238A>T (p.Lys2413Met)
c.231-13817A>T
c.7268A>T (p.Lys2423Met)
c.7163A>T (p.Lys2388Met)
c.7154A>T (p.Lys2385Met)
c.7115A>T (p.Lys2372Met)
c.7061A>T (p.Lys2354Met)
c.6965A>T (p.Lys2322Met)
c.6935A>T (p.Lys2312Met)
c.6860A>T (p.Lys2287Met)
c.6758A>T (p.Lys2253Met)
c.6389A>T (p.Lys2130Met)
dbSNP
5g.112842833G>ACA047306APCc.7293G>A (p.Lys2431=)
c.*7245G>A (n.*7245G>A)
c.7185G>A (p.Lys2395=)
c.7239G>A (p.Lys2413=)
c.231-13816G>A
c.7269G>A (p.Lys2423=)
c.7164G>A (p.Lys2388=)
c.7155G>A (p.Lys2385=)
c.7116G>A (p.Lys2372=)
c.7062G>A (p.Lys2354=)
c.6966G>A (p.Lys2322=)
c.6936G>A (p.Lys2312=)
c.6861G>A (p.Lys2287=)
c.6759G>A (p.Lys2253=)
c.6390G>A (p.Lys2130=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842833G>CCA16037099APCc.7293G>C (p.Lys2431Asn)
c.*7245G>C (n.*7245G>C)
c.7185G>C (p.Lys2395Asn)
c.7239G>C (p.Lys2413Asn)
c.231-13816G>C
c.7269G>C (p.Lys2423Asn)
c.7164G>C (p.Lys2388Asn)
c.7155G>C (p.Lys2385Asn)
c.7116G>C (p.Lys2372Asn)
c.7062G>C (p.Lys2354Asn)
c.6966G>C (p.Lys2322Asn)
c.6936G>C (p.Lys2312Asn)
c.6861G>C (p.Lys2287Asn)
c.6759G>C (p.Lys2253Asn)
c.6390G>C (p.Lys2130Asn)
ClinVar dbSNP gnomAD v4
5g.112842833G=CA1573468616APCc.7293G= (p.Lys2431=)
c.*7245G= (n.*7245G=)
c.7185G= (p.Lys2395=)
c.7239G= (p.Lys2413=)
c.231-13816G=
c.7269G= (p.Lys2423=)
c.7164G= (p.Lys2388=)
c.7155G= (p.Lys2385=)
c.7116G= (p.Lys2372=)
c.7062G= (p.Lys2354=)
c.6966G= (p.Lys2322=)
c.6936G= (p.Lys2312=)
c.6861G= (p.Lys2287=)
c.6759G= (p.Lys2253=)
c.6390G= (p.Lys2130=)
5g.112842833G>TCA16037100APCc.7293G>T (p.Lys2431Asn)
c.*7245G>T (n.*7245G>T)
c.7185G>T (p.Lys2395Asn)
c.7239G>T (p.Lys2413Asn)
c.231-13816G>T
c.7269G>T (p.Lys2423Asn)
c.7164G>T (p.Lys2388Asn)
c.7155G>T (p.Lys2385Asn)
c.7116G>T (p.Lys2372Asn)
c.7062G>T (p.Lys2354Asn)
c.6966G>T (p.Lys2322Asn)
c.6936G>T (p.Lys2312Asn)
c.6861G>T (p.Lys2287Asn)
c.6759G>T (p.Lys2253Asn)
c.6390G>T (p.Lys2130Asn)
dbSNP
5g.112842834G>ACA16037101APCc.7294G>A (p.Val2432Ile)
c.*7246G>A (n.*7246G>A)
c.7186G>A (p.Val2396Ile)
c.7240G>A (p.Val2414Ile)
c.231-13815G>A
c.7270G>A (p.Val2424Ile)
c.7165G>A (p.Val2389Ile)
c.7156G>A (p.Val2386Ile)
c.7117G>A (p.Val2373Ile)
c.7063G>A (p.Val2355Ile)
c.6967G>A (p.Val2323Ile)
c.6937G>A (p.Val2313Ile)
c.6862G>A (p.Val2288Ile)
c.6760G>A (p.Val2254Ile)
c.6391G>A (p.Val2131Ile)
ClinVar dbSNP
5g.112842834G>CCA16037102APCc.7294G>C (p.Val2432Leu)
c.*7246G>C (n.*7246G>C)
c.7186G>C (p.Val2396Leu)
c.7240G>C (p.Val2414Leu)
c.231-13815G>C
c.7270G>C (p.Val2424Leu)
c.7165G>C (p.Val2389Leu)
c.7156G>C (p.Val2386Leu)
c.7117G>C (p.Val2373Leu)
c.7063G>C (p.Val2355Leu)
c.6967G>C (p.Val2323Leu)
c.6937G>C (p.Val2313Leu)
c.6862G>C (p.Val2288Leu)
c.6760G>C (p.Val2254Leu)
c.6391G>C (p.Val2131Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842834G=CA1573468630APCc.7294G= (p.Val2432=)
c.*7246G= (n.*7246G=)
c.7186G= (p.Val2396=)
c.7240G= (p.Val2414=)
c.231-13815G=
c.7270G= (p.Val2424=)
c.7165G= (p.Val2389=)
c.7156G= (p.Val2386=)
c.7117G= (p.Val2373=)
c.7063G= (p.Val2355=)
c.6967G= (p.Val2323=)
c.6937G= (p.Val2313=)
c.6862G= (p.Val2288=)
c.6760G= (p.Val2254=)
c.6391G= (p.Val2131=)
5g.112842834G>TCA16037103APCc.7294G>T (p.Val2432Leu)
c.*7246G>T (n.*7246G>T)
c.7186G>T (p.Val2396Leu)
c.7240G>T (p.Val2414Leu)
c.231-13815G>T
c.7270G>T (p.Val2424Leu)
c.7165G>T (p.Val2389Leu)
c.7156G>T (p.Val2386Leu)
c.7117G>T (p.Val2373Leu)
c.7063G>T (p.Val2355Leu)
c.6967G>T (p.Val2323Leu)
c.6937G>T (p.Val2313Leu)
c.6862G>T (p.Val2288Leu)
c.6760G>T (p.Val2254Leu)
c.6391G>T (p.Val2131Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842835T>ACA16037104APCc.7295T>A (p.Val2432Glu)
c.*7247T>A (n.*7247T>A)
c.7187T>A (p.Val2396Glu)
c.7241T>A (p.Val2414Glu)
c.231-13814T>A
c.7271T>A (p.Val2424Glu)
c.7166T>A (p.Val2389Glu)
c.7157T>A (p.Val2386Glu)
c.7118T>A (p.Val2373Glu)
c.7064T>A (p.Val2355Glu)
c.6968T>A (p.Val2323Glu)
c.6938T>A (p.Val2313Glu)
c.6863T>A (p.Val2288Glu)
c.6761T>A (p.Val2254Glu)
c.6392T>A (p.Val2131Glu)
dbSNP
5g.112842835T>CCA16037105APCc.7295T>C (p.Val2432Ala)
c.*7247T>C (n.*7247T>C)
c.7187T>C (p.Val2396Ala)
c.7241T>C (p.Val2414Ala)
c.231-13814T>C
c.7271T>C (p.Val2424Ala)
c.7166T>C (p.Val2389Ala)
c.7157T>C (p.Val2386Ala)
c.7118T>C (p.Val2373Ala)
c.7064T>C (p.Val2355Ala)
c.6968T>C (p.Val2323Ala)
c.6938T>C (p.Val2313Ala)
c.6863T>C (p.Val2288Ala)
c.6761T>C (p.Val2254Ala)
c.6392T>C (p.Val2131Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842835T>GCA16037106APCc.7295T>G (p.Val2432Gly)
c.*7247T>G (n.*7247T>G)
c.7187T>G (p.Val2396Gly)
c.7241T>G (p.Val2414Gly)
c.231-13814T>G
c.7271T>G (p.Val2424Gly)
c.7166T>G (p.Val2389Gly)
c.7157T>G (p.Val2386Gly)
c.7118T>G (p.Val2373Gly)
c.7064T>G (p.Val2355Gly)
c.6968T>G (p.Val2323Gly)
c.6938T>G (p.Val2313Gly)
c.6863T>G (p.Val2288Gly)
c.6761T>G (p.Val2254Gly)
c.6392T>G (p.Val2131Gly)
dbSNP
5g.112842835T=CA1573468636APCc.7295T= (p.Val2432=)
c.*7247T= (n.*7247T=)
c.7187T= (p.Val2396=)
c.7241T= (p.Val2414=)
c.231-13814T=
c.7271T= (p.Val2424=)
c.7166T= (p.Val2389=)
c.7157T= (p.Val2386=)
c.7118T= (p.Val2373=)
c.7064T= (p.Val2355=)
c.6968T= (p.Val2323=)
c.6938T= (p.Val2313=)
c.6863T= (p.Val2288=)
c.6761T= (p.Val2254=)
c.6392T= (p.Val2131=)
5g.112842836A>CCA446210213APCc.7296A>C (p.Val2432=)
c.*7248A>C (n.*7248A>C)
c.7188A>C (p.Val2396=)
c.7242A>C (p.Val2414=)
c.231-13813A>C
c.7272A>C (p.Val2424=)
c.7167A>C (p.Val2389=)
c.7158A>C (p.Val2386=)
c.7119A>C (p.Val2373=)
c.7065A>C (p.Val2355=)
c.6969A>C (p.Val2323=)
c.6939A>C (p.Val2313=)
c.6864A>C (p.Val2288=)
c.6762A>C (p.Val2254=)
c.6393A>C (p.Val2131=)
5g.112842836A>GCA446210214APCc.7296A>G (p.Val2432=)
c.*7248A>G (n.*7248A>G)
c.7188A>G (p.Val2396=)
c.7242A>G (p.Val2414=)
c.231-13813A>G
c.7272A>G (p.Val2424=)
c.7167A>G (p.Val2389=)
c.7158A>G (p.Val2386=)
c.7119A>G (p.Val2373=)
c.7065A>G (p.Val2355=)
c.6969A>G (p.Val2323=)
c.6939A>G (p.Val2313=)
c.6864A>G (p.Val2288=)
c.6762A>G (p.Val2254=)
c.6393A>G (p.Val2131=)
5g.112842836A>TCA446210215APCc.7296A>T (p.Val2432=)
c.*7248A>T (n.*7248A>T)
c.7188A>T (p.Val2396=)
c.7242A>T (p.Val2414=)
c.231-13813A>T
c.7272A>T (p.Val2424=)
c.7167A>T (p.Val2389=)
c.7158A>T (p.Val2386=)
c.7119A>T (p.Val2373=)
c.7065A>T (p.Val2355=)
c.6969A>T (p.Val2323=)
c.6939A>T (p.Val2313=)
c.6864A>T (p.Val2288=)
c.6762A>T (p.Val2254=)
c.6393A>T (p.Val2131=)
dbSNP
5g.112842837G>ACA16037107APCc.7297G>A (p.Glu2433Lys)
c.*7249G>A (n.*7249G>A)
c.7189G>A (p.Glu2397Lys)
c.7243G>A (p.Glu2415Lys)
c.231-13812G>A
c.7273G>A (p.Glu2425Lys)
c.7168G>A (p.Glu2390Lys)
c.7159G>A (p.Glu2387Lys)
c.7120G>A (p.Glu2374Lys)
c.7066G>A (p.Glu2356Lys)
c.6970G>A (p.Glu2324Lys)
c.6940G>A (p.Glu2314Lys)
c.6865G>A (p.Glu2289Lys)
c.6763G>A (p.Glu2255Lys)
c.6394G>A (p.Glu2132Lys)
ClinVar dbSNP gnomAD v4
5g.112842837G>CCA16037108APCc.7297G>C (p.Glu2433Gln)
c.*7249G>C (n.*7249G>C)
c.7189G>C (p.Glu2397Gln)
c.7243G>C (p.Glu2415Gln)
c.231-13812G>C
c.7273G>C (p.Glu2425Gln)
c.7168G>C (p.Glu2390Gln)
c.7159G>C (p.Glu2387Gln)
c.7120G>C (p.Glu2374Gln)
c.7066G>C (p.Glu2356Gln)
c.6970G>C (p.Glu2324Gln)
c.6940G>C (p.Glu2314Gln)
c.6865G>C (p.Glu2289Gln)
c.6763G>C (p.Glu2255Gln)
c.6394G>C (p.Glu2132Gln)
ClinVar dbSNP COSMIC
5g.112842837G=CA1573468643APCc.7297G= (p.Glu2433=)
c.*7249G= (n.*7249G=)
c.7189G= (p.Glu2397=)
c.7243G= (p.Glu2415=)
c.231-13812G=
c.7273G= (p.Glu2425=)
c.7168G= (p.Glu2390=)
c.7159G= (p.Glu2387=)
c.7120G= (p.Glu2374=)
c.7066G= (p.Glu2356=)
c.6970G= (p.Glu2324=)
c.6940G= (p.Glu2314=)
c.6865G= (p.Glu2289=)
c.6763G= (p.Glu2255=)
c.6394G= (p.Glu2132=)
5g.112842837G>TCA16037109APCc.7297G>T (p.Glu2433Ter)
c.*7249G>T (n.*7249G>T)
c.7189G>T (p.Glu2397Ter)
c.7243G>T (p.Glu2415Ter)
c.231-13812G>T
c.7273G>T (p.Glu2425Ter)
c.7168G>T (p.Glu2390Ter)
c.7159G>T (p.Glu2387Ter)
c.7120G>T (p.Glu2374Ter)
c.7066G>T (p.Glu2356Ter)
c.6970G>T (p.Glu2324Ter)
c.6940G>T (p.Glu2314Ter)
c.6865G>T (p.Glu2289Ter)
c.6763G>T (p.Glu2255Ter)
c.6394G>T (p.Glu2132Ter)
dbSNP
5g.112842838A=CA1573468655APCc.7298A= (p.Glu2433=)
c.*7250A= (n.*7250A=)
c.7190A= (p.Glu2397=)
c.7244A= (p.Glu2415=)
c.231-13811A=
c.7274A= (p.Glu2425=)
c.7169A= (p.Glu2390=)
c.7160A= (p.Glu2387=)
c.7121A= (p.Glu2374=)
c.7067A= (p.Glu2356=)
c.6971A= (p.Glu2324=)
c.6941A= (p.Glu2314=)
c.6866A= (p.Glu2289=)
c.6764A= (p.Glu2255=)
c.6395A= (p.Glu2132=)
5g.112842838A>CCA16037110APCc.7298A>C (p.Glu2433Ala)
c.*7250A>C (n.*7250A>C)
c.7190A>C (p.Glu2397Ala)
c.7244A>C (p.Glu2415Ala)
c.231-13811A>C
c.7274A>C (p.Glu2425Ala)
c.7169A>C (p.Glu2390Ala)
c.7160A>C (p.Glu2387Ala)
c.7121A>C (p.Glu2374Ala)
c.7067A>C (p.Glu2356Ala)
c.6971A>C (p.Glu2324Ala)
c.6941A>C (p.Glu2314Ala)
c.6866A>C (p.Glu2289Ala)
c.6764A>C (p.Glu2255Ala)
c.6395A>C (p.Glu2132Ala)
5g.112842838A>GCA16037111APCc.7298A>G (p.Glu2433Gly)
c.*7250A>G (n.*7250A>G)
c.7190A>G (p.Glu2397Gly)
c.7244A>G (p.Glu2415Gly)
c.231-13811A>G
c.7274A>G (p.Glu2425Gly)
c.7169A>G (p.Glu2390Gly)
c.7160A>G (p.Glu2387Gly)
c.7121A>G (p.Glu2374Gly)
c.7067A>G (p.Glu2356Gly)
c.6971A>G (p.Glu2324Gly)
c.6941A>G (p.Glu2314Gly)
c.6866A>G (p.Glu2289Gly)
c.6764A>G (p.Glu2255Gly)
c.6395A>G (p.Glu2132Gly)
ClinVar dbSNP
5g.112842838A>TCA16037112APCc.7298A>T (p.Glu2433Val)
c.*7250A>T (n.*7250A>T)
c.7190A>T (p.Glu2397Val)
c.7244A>T (p.Glu2415Val)
c.231-13811A>T
c.7274A>T (p.Glu2425Val)
c.7169A>T (p.Glu2390Val)
c.7160A>T (p.Glu2387Val)
c.7121A>T (p.Glu2374Val)
c.7067A>T (p.Glu2356Val)
c.6971A>T (p.Glu2324Val)
c.6941A>T (p.Glu2314Val)
c.6866A>T (p.Glu2289Val)
c.6764A>T (p.Glu2255Val)
c.6395A>T (p.Glu2132Val)
ClinVar dbSNP gnomAD v4
5g.112842839A=CA1573468662APCc.7299A= (p.Glu2433=)
c.*7251A= (n.*7251A=)
c.7191A= (p.Glu2397=)
c.7245A= (p.Glu2415=)
c.231-13810A=
c.7275A= (p.Glu2425=)
c.7170A= (p.Glu2390=)
c.7161A= (p.Glu2387=)
c.7122A= (p.Glu2374=)
c.7068A= (p.Glu2356=)
c.6972A= (p.Glu2324=)
c.6942A= (p.Glu2314=)
c.6867A= (p.Glu2289=)
c.6765A= (p.Glu2255=)
c.6396A= (p.Glu2132=)
5g.112842839A>CCA16037113APCc.7299A>C (p.Glu2433Asp)
c.*7251A>C (n.*7251A>C)
c.7191A>C (p.Glu2397Asp)
c.7245A>C (p.Glu2415Asp)
c.231-13810A>C
c.7275A>C (p.Glu2425Asp)
c.7170A>C (p.Glu2390Asp)
c.7161A>C (p.Glu2387Asp)
c.7122A>C (p.Glu2374Asp)
c.7068A>C (p.Glu2356Asp)
c.6972A>C (p.Glu2324Asp)
c.6942A>C (p.Glu2314Asp)
c.6867A>C (p.Glu2289Asp)
c.6765A>C (p.Glu2255Asp)
c.6396A>C (p.Glu2132Asp)
dbSNP
5g.112842839A>GCA446210216APCc.7299A>G (p.Glu2433=)
c.*7251A>G (n.*7251A>G)
c.7191A>G (p.Glu2397=)
c.7245A>G (p.Glu2415=)
c.231-13810A>G
c.7275A>G (p.Glu2425=)
c.7170A>G (p.Glu2390=)
c.7161A>G (p.Glu2387=)
c.7122A>G (p.Glu2374=)
c.7068A>G (p.Glu2356=)
c.6972A>G (p.Glu2324=)
c.6942A>G (p.Glu2314=)
c.6867A>G (p.Glu2289=)
c.6765A>G (p.Glu2255=)
c.6396A>G (p.Glu2132=)
ClinVar dbSNP gnomAD v4
5g.112842839A>TCA16037114APCc.7299A>T (p.Glu2433Asp)
c.*7251A>T (n.*7251A>T)
c.7191A>T (p.Glu2397Asp)
c.7245A>T (p.Glu2415Asp)
c.231-13810A>T
c.7275A>T (p.Glu2425Asp)
c.7170A>T (p.Glu2390Asp)
c.7161A>T (p.Glu2387Asp)
c.7122A>T (p.Glu2374Asp)
c.7068A>T (p.Glu2356Asp)
c.6972A>T (p.Glu2324Asp)
c.6942A>T (p.Glu2314Asp)
c.6867A>T (p.Glu2289Asp)
c.6765A>T (p.Glu2255Asp)
c.6396A>T (p.Glu2132Asp)
dbSNP
5g.112842840C>ACA16037115APCc.7300C>A (p.Leu2434Ile)
c.*7252C>A (n.*7252C>A)
c.7192C>A (p.Leu2398Ile)
c.7246C>A (p.Leu2416Ile)
c.231-13809C>A
c.7276C>A (p.Leu2426Ile)
c.7171C>A (p.Leu2391Ile)
c.7162C>A (p.Leu2388Ile)
c.7123C>A (p.Leu2375Ile)
c.7069C>A (p.Leu2357Ile)
c.6973C>A (p.Leu2325Ile)
c.6943C>A (p.Leu2315Ile)
c.6868C>A (p.Leu2290Ile)
c.6766C>A (p.Leu2256Ile)
c.6397C>A (p.Leu2133Ile)
dbSNP
5g.112842840C=CA1573468677APCc.7300C= (p.Leu2434=)
c.*7252C= (n.*7252C=)
c.7192C= (p.Leu2398=)
c.7246C= (p.Leu2416=)
c.231-13809C=
c.7276C= (p.Leu2426=)
c.7171C= (p.Leu2391=)
c.7162C= (p.Leu2388=)
c.7123C= (p.Leu2375=)
c.7069C= (p.Leu2357=)
c.6973C= (p.Leu2325=)
c.6943C= (p.Leu2315=)
c.6868C= (p.Leu2290=)
c.6766C= (p.Leu2256=)
c.6397C= (p.Leu2133=)
5g.112842840C>GCA16037116APCc.7300C>G (p.Leu2434Val)
c.*7252C>G (n.*7252C>G)
c.7192C>G (p.Leu2398Val)
c.7246C>G (p.Leu2416Val)
c.231-13809C>G
c.7276C>G (p.Leu2426Val)
c.7171C>G (p.Leu2391Val)
c.7162C>G (p.Leu2388Val)
c.7123C>G (p.Leu2375Val)
c.7069C>G (p.Leu2357Val)
c.6973C>G (p.Leu2325Val)
c.6943C>G (p.Leu2315Val)
c.6868C>G (p.Leu2290Val)
c.6766C>G (p.Leu2256Val)
c.6397C>G (p.Leu2133Val)
ClinVar dbSNP gnomAD v2
5g.112842840C>TCA16037117APCc.7300C>T (p.Leu2434Phe)
c.*7252C>T (n.*7252C>T)
c.7192C>T (p.Leu2398Phe)
c.7246C>T (p.Leu2416Phe)
c.231-13809C>T
c.7276C>T (p.Leu2426Phe)
c.7171C>T (p.Leu2391Phe)
c.7162C>T (p.Leu2388Phe)
c.7123C>T (p.Leu2375Phe)
c.7069C>T (p.Leu2357Phe)
c.6973C>T (p.Leu2325Phe)
c.6943C>T (p.Leu2315Phe)
c.6868C>T (p.Leu2290Phe)
c.6766C>T (p.Leu2256Phe)
c.6397C>T (p.Leu2133Phe)
ClinVar dbSNP
5g.112842841T>ACA16037118APCc.7301T>A (p.Leu2434His)
c.*7253T>A (n.*7253T>A)
c.7193T>A (p.Leu2398His)
c.7247T>A (p.Leu2416His)
c.231-13808T>A
c.7277T>A (p.Leu2426His)
c.7172T>A (p.Leu2391His)
c.7163T>A (p.Leu2388His)
c.7124T>A (p.Leu2375His)
c.7070T>A (p.Leu2357His)
c.6974T>A (p.Leu2325His)
c.6944T>A (p.Leu2315His)
c.6869T>A (p.Leu2290His)
c.6767T>A (p.Leu2256His)
c.6398T>A (p.Leu2133His)
dbSNP
5g.112842841T>CCA16037119APCc.7301T>C (p.Leu2434Pro)
c.*7253T>C (n.*7253T>C)
c.7193T>C (p.Leu2398Pro)
c.7247T>C (p.Leu2416Pro)
c.231-13808T>C
c.7277T>C (p.Leu2426Pro)
c.7172T>C (p.Leu2391Pro)
c.7163T>C (p.Leu2388Pro)
c.7124T>C (p.Leu2375Pro)
c.7070T>C (p.Leu2357Pro)
c.6974T>C (p.Leu2325Pro)
c.6944T>C (p.Leu2315Pro)
c.6869T>C (p.Leu2290Pro)
c.6767T>C (p.Leu2256Pro)
c.6398T>C (p.Leu2133Pro)
ClinVar
5g.112842841T>GCA16037120APCc.7301T>G (p.Leu2434Arg)
c.*7253T>G (n.*7253T>G)
c.7193T>G (p.Leu2398Arg)
c.7247T>G (p.Leu2416Arg)
c.231-13808T>G
c.7277T>G (p.Leu2426Arg)
c.7172T>G (p.Leu2391Arg)
c.7163T>G (p.Leu2388Arg)
c.7124T>G (p.Leu2375Arg)
c.7070T>G (p.Leu2357Arg)
c.6974T>G (p.Leu2325Arg)
c.6944T>G (p.Leu2315Arg)
c.6869T>G (p.Leu2290Arg)
c.6767T>G (p.Leu2256Arg)
c.6398T>G (p.Leu2133Arg)
5g.112842842T>ACA446210217APCc.7302T>A (p.Leu2434=)
c.*7254T>A (n.*7254T>A)
c.7194T>A (p.Leu2398=)
c.7248T>A (p.Leu2416=)
c.231-13807T>A
c.7278T>A (p.Leu2426=)
c.7173T>A (p.Leu2391=)
c.7164T>A (p.Leu2388=)
c.7125T>A (p.Leu2375=)
c.7071T>A (p.Leu2357=)
c.6975T>A (p.Leu2325=)
c.6945T>A (p.Leu2315=)
c.6870T>A (p.Leu2290=)
c.6768T>A (p.Leu2256=)
c.6399T>A (p.Leu2133=)
5g.112842842T>CCA446210218APCc.7302T>C (p.Leu2434=)
c.*7254T>C (n.*7254T>C)
c.7194T>C (p.Leu2398=)
c.7248T>C (p.Leu2416=)
c.231-13807T>C
c.7278T>C (p.Leu2426=)
c.7173T>C (p.Leu2391=)
c.7164T>C (p.Leu2388=)
c.7125T>C (p.Leu2375=)
c.7071T>C (p.Leu2357=)
c.6975T>C (p.Leu2325=)
c.6945T>C (p.Leu2315=)
c.6870T>C (p.Leu2290=)
c.6768T>C (p.Leu2256=)
c.6399T>C (p.Leu2133=)
5g.112842842T>GCA446210219APCc.7302T>G (p.Leu2434=)
c.*7254T>G (n.*7254T>G)
c.7194T>G (p.Leu2398=)
c.7248T>G (p.Leu2416=)
c.231-13807T>G
c.7278T>G (p.Leu2426=)
c.7173T>G (p.Leu2391=)
c.7164T>G (p.Leu2388=)
c.7125T>G (p.Leu2375=)
c.7071T>G (p.Leu2357=)
c.6975T>G (p.Leu2325=)
c.6945T>G (p.Leu2315=)
c.6870T>G (p.Leu2290=)
c.6768T>G (p.Leu2256=)
c.6399T>G (p.Leu2133=)
5g.112842843T>ACA16037121APCc.7303T>A (p.Ser2435Thr)
c.*7255T>A (n.*7255T>A)
c.7195T>A (p.Ser2399Thr)
c.7249T>A (p.Ser2417Thr)
c.231-13806T>A
c.7279T>A (p.Ser2427Thr)
c.7174T>A (p.Ser2392Thr)
c.7165T>A (p.Ser2389Thr)
c.7126T>A (p.Ser2376Thr)
c.7072T>A (p.Ser2358Thr)
c.6976T>A (p.Ser2326Thr)
c.6946T>A (p.Ser2316Thr)
c.6871T>A (p.Ser2291Thr)
c.6769T>A (p.Ser2257Thr)
c.6400T>A (p.Ser2134Thr)
dbSNP
5g.112842843T>CCA16037122APCc.7303T>C (p.Ser2435Pro)
c.*7255T>C (n.*7255T>C)
c.7195T>C (p.Ser2399Pro)
c.7249T>C (p.Ser2417Pro)
c.231-13806T>C
c.7279T>C (p.Ser2427Pro)
c.7174T>C (p.Ser2392Pro)
c.7165T>C (p.Ser2389Pro)
c.7126T>C (p.Ser2376Pro)
c.7072T>C (p.Ser2358Pro)
c.6976T>C (p.Ser2326Pro)
c.6946T>C (p.Ser2316Pro)
c.6871T>C (p.Ser2291Pro)
c.6769T>C (p.Ser2257Pro)
c.6400T>C (p.Ser2134Pro)
ClinVar dbSNP gnomAD v4
5g.112842843T>GCA16037123APCc.7303T>G (p.Ser2435Ala)
c.*7255T>G (n.*7255T>G)
c.7195T>G (p.Ser2399Ala)
c.7249T>G (p.Ser2417Ala)
c.231-13806T>G
c.7279T>G (p.Ser2427Ala)
c.7174T>G (p.Ser2392Ala)
c.7165T>G (p.Ser2389Ala)
c.7126T>G (p.Ser2376Ala)
c.7072T>G (p.Ser2358Ala)
c.6976T>G (p.Ser2326Ala)
c.6946T>G (p.Ser2316Ala)
c.6871T>G (p.Ser2291Ala)
c.6769T>G (p.Ser2257Ala)
c.6400T>G (p.Ser2134Ala)
5g.112842843T=CA1573468737APCc.7303T= (p.Ser2435=)
c.*7255T= (n.*7255T=)
c.7195T= (p.Ser2399=)
c.7249T= (p.Ser2417=)
c.231-13806T=
c.7279T= (p.Ser2427=)
c.7174T= (p.Ser2392=)
c.7165T= (p.Ser2389=)
c.7126T= (p.Ser2376=)
c.7072T= (p.Ser2358=)
c.6976T= (p.Ser2326=)
c.6946T= (p.Ser2316=)
c.6871T= (p.Ser2291=)
c.6769T= (p.Ser2257=)
c.6400T= (p.Ser2134=)
5g.112842844C>ACA16037124APCc.7304C>A (p.Ser2435Tyr)
c.*7256C>A (n.*7256C>A)
c.7196C>A (p.Ser2399Tyr)
c.7250C>A (p.Ser2417Tyr)
c.231-13805C>A
c.7280C>A (p.Ser2427Tyr)
c.7175C>A (p.Ser2392Tyr)
c.7166C>A (p.Ser2389Tyr)
c.7127C>A (p.Ser2376Tyr)
c.7073C>A (p.Ser2358Tyr)
c.6977C>A (p.Ser2326Tyr)
c.6947C>A (p.Ser2316Tyr)
c.6872C>A (p.Ser2291Tyr)
c.6770C>A (p.Ser2257Tyr)
c.6401C>A (p.Ser2134Tyr)
ClinVar dbSNP
5g.112842844C=CA1573468769APCc.7304C= (p.Ser2435=)
c.*7256C= (n.*7256C=)
c.7196C= (p.Ser2399=)
c.7250C= (p.Ser2417=)
c.231-13805C=
c.7280C= (p.Ser2427=)
c.7175C= (p.Ser2392=)
c.7166C= (p.Ser2389=)
c.7127C= (p.Ser2376=)
c.7073C= (p.Ser2358=)
c.6977C= (p.Ser2326=)
c.6947C= (p.Ser2316=)
c.6872C= (p.Ser2291=)
c.6770C= (p.Ser2257=)
c.6401C= (p.Ser2134=)
5g.112842844C>GCA16037125APCc.7304C>G (p.Ser2435Cys)
c.*7256C>G (n.*7256C>G)
c.7196C>G (p.Ser2399Cys)
c.7250C>G (p.Ser2417Cys)
c.231-13805C>G
c.7280C>G (p.Ser2427Cys)
c.7175C>G (p.Ser2392Cys)
c.7166C>G (p.Ser2389Cys)
c.7127C>G (p.Ser2376Cys)
c.7073C>G (p.Ser2358Cys)
c.6977C>G (p.Ser2326Cys)
c.6947C>G (p.Ser2316Cys)
c.6872C>G (p.Ser2291Cys)
c.6770C>G (p.Ser2257Cys)
c.6401C>G (p.Ser2134Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842844C>TCA16037126APCc.7304C>T (p.Ser2435Phe)
c.*7256C>T (n.*7256C>T)
c.7196C>T (p.Ser2399Phe)
c.7250C>T (p.Ser2417Phe)
c.231-13805C>T
c.7280C>T (p.Ser2427Phe)
c.7175C>T (p.Ser2392Phe)
c.7166C>T (p.Ser2389Phe)
c.7127C>T (p.Ser2376Phe)
c.7073C>T (p.Ser2358Phe)
c.6977C>T (p.Ser2326Phe)
c.6947C>T (p.Ser2316Phe)
c.6872C>T (p.Ser2291Phe)
c.6770C>T (p.Ser2257Phe)
c.6401C>T (p.Ser2134Phe)
ClinVar dbSNP gnomAD v4
5g.112842845T>ACA446210220APCc.7305T>A (p.Ser2435=)
c.*7257T>A (n.*7257T>A)
c.7197T>A (p.Ser2399=)
c.7251T>A (p.Ser2417=)
c.231-13804T>A
c.7281T>A (p.Ser2427=)
c.7176T>A (p.Ser2392=)
c.7167T>A (p.Ser2389=)
c.7128T>A (p.Ser2376=)
c.7074T>A (p.Ser2358=)
c.6978T>A (p.Ser2326=)
c.6948T>A (p.Ser2316=)
c.6873T>A (p.Ser2291=)
c.6771T>A (p.Ser2257=)
c.6402T>A (p.Ser2134=)
5g.112842845T>CCA446210221APCc.7305T>C (p.Ser2435=)
c.*7257T>C (n.*7257T>C)
c.7197T>C (p.Ser2399=)
c.7251T>C (p.Ser2417=)
c.231-13804T>C
c.7281T>C (p.Ser2427=)
c.7176T>C (p.Ser2392=)
c.7167T>C (p.Ser2389=)
c.7128T>C (p.Ser2376=)
c.7074T>C (p.Ser2358=)
c.6978T>C (p.Ser2326=)
c.6948T>C (p.Ser2316=)
c.6873T>C (p.Ser2291=)
c.6771T>C (p.Ser2257=)
c.6402T>C (p.Ser2134=)
5g.112842845T>GCA446210222APCc.7305T>G (p.Ser2435=)
c.*7257T>G (n.*7257T>G)
c.7197T>G (p.Ser2399=)
c.7251T>G (p.Ser2417=)
c.231-13804T>G
c.7281T>G (p.Ser2427=)
c.7176T>G (p.Ser2392=)
c.7167T>G (p.Ser2389=)
c.7128T>G (p.Ser2376=)
c.7074T>G (p.Ser2358=)
c.6978T>G (p.Ser2326=)
c.6948T>G (p.Ser2316=)
c.6873T>G (p.Ser2291=)
c.6771T>G (p.Ser2257=)
c.6402T>G (p.Ser2134=)
5g.112842846A=CA1573468782APCc.7306A= (p.Arg2436=)
c.*7258A= (n.*7258A=)
c.7198A= (p.Arg2400=)
c.7252A= (p.Arg2418=)
c.231-13803A=
c.7282A= (p.Arg2428=)
c.7177A= (p.Arg2393=)
c.7168A= (p.Arg2390=)
c.7129A= (p.Arg2377=)
c.7075A= (p.Arg2359=)
c.6979A= (p.Arg2327=)
c.6949A= (p.Arg2317=)
c.6874A= (p.Arg2292=)
c.6772A= (p.Arg2258=)
c.6403A= (p.Arg2135=)
5g.112842846A>CCA446210223APCc.7306A>C (p.Arg2436=)
c.*7258A>C (n.*7258A>C)
c.7198A>C (p.Arg2400=)
c.7252A>C (p.Arg2418=)
c.231-13803A>C
c.7282A>C (p.Arg2428=)
c.7177A>C (p.Arg2393=)
c.7168A>C (p.Arg2390=)
c.7129A>C (p.Arg2377=)
c.7075A>C (p.Arg2359=)
c.6979A>C (p.Arg2327=)
c.6949A>C (p.Arg2317=)
c.6874A>C (p.Arg2292=)
c.6772A>C (p.Arg2258=)
c.6403A>C (p.Arg2135=)
5g.112842846A>GCA047313APCc.7306A>G (p.Arg2436Gly)
c.*7258A>G (n.*7258A>G)
c.7198A>G (p.Arg2400Gly)
c.7252A>G (p.Arg2418Gly)
c.231-13803A>G
c.7282A>G (p.Arg2428Gly)
c.7177A>G (p.Arg2393Gly)
c.7168A>G (p.Arg2390Gly)
c.7129A>G (p.Arg2377Gly)
c.7075A>G (p.Arg2359Gly)
c.6979A>G (p.Arg2327Gly)
c.6949A>G (p.Arg2317Gly)
c.6874A>G (p.Arg2292Gly)
c.6772A>G (p.Arg2258Gly)
c.6403A>G (p.Arg2135Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842846A>TCA16037127APCc.7306A>T (p.Arg2436Ter)
c.*7258A>T (n.*7258A>T)
c.7198A>T (p.Arg2400Ter)
c.7252A>T (p.Arg2418Ter)
c.231-13803A>T
c.7282A>T (p.Arg2428Ter)
c.7177A>T (p.Arg2393Ter)
c.7168A>T (p.Arg2390Ter)
c.7129A>T (p.Arg2377Ter)
c.7075A>T (p.Arg2359Ter)
c.6979A>T (p.Arg2327Ter)
c.6949A>T (p.Arg2317Ter)
c.6874A>T (p.Arg2292Ter)
c.6772A>T (p.Arg2258Ter)
c.6403A>T (p.Arg2135Ter)
dbSNP
5g.112842847G>ACA16037128APCc.7307G>A (p.Arg2436Lys)
c.*7259G>A (n.*7259G>A)
c.7199G>A (p.Arg2400Lys)
c.7253G>A (p.Arg2418Lys)
c.231-13802G>A
c.7283G>A (p.Arg2428Lys)
c.7178G>A (p.Arg2393Lys)
c.7169G>A (p.Arg2390Lys)
c.7130G>A (p.Arg2377Lys)
c.7076G>A (p.Arg2359Lys)
c.6980G>A (p.Arg2327Lys)
c.6950G>A (p.Arg2317Lys)
c.6875G>A (p.Arg2292Lys)
c.6773G>A (p.Arg2258Lys)
c.6404G>A (p.Arg2135Lys)
dbSNP gnomAD v4
5g.112842847G>CCA16037129APCc.7307G>C (p.Arg2436Thr)
c.*7259G>C (n.*7259G>C)
c.7199G>C (p.Arg2400Thr)
c.7253G>C (p.Arg2418Thr)
c.231-13802G>C
c.7283G>C (p.Arg2428Thr)
c.7178G>C (p.Arg2393Thr)
c.7169G>C (p.Arg2390Thr)
c.7130G>C (p.Arg2377Thr)
c.7076G>C (p.Arg2359Thr)
c.6980G>C (p.Arg2327Thr)
c.6950G>C (p.Arg2317Thr)
c.6875G>C (p.Arg2292Thr)
c.6773G>C (p.Arg2258Thr)
c.6404G>C (p.Arg2135Thr)
dbSNP
5g.112842847G>TCA16037130APCc.7307G>T (p.Arg2436Ile)
c.*7259G>T (n.*7259G>T)
c.7199G>T (p.Arg2400Ile)
c.7253G>T (p.Arg2418Ile)
c.231-13802G>T
c.7283G>T (p.Arg2428Ile)
c.7178G>T (p.Arg2393Ile)
c.7169G>T (p.Arg2390Ile)
c.7130G>T (p.Arg2377Ile)
c.7076G>T (p.Arg2359Ile)
c.6980G>T (p.Arg2327Ile)
c.6950G>T (p.Arg2317Ile)
c.6875G>T (p.Arg2292Ile)
c.6773G>T (p.Arg2258Ile)
c.6404G>T (p.Arg2135Ile)
dbSNP
5g.112842848A=CA1573468792APCc.7308A= (p.Arg2436=)
c.*7260A= (n.*7260A=)
c.7200A= (p.Arg2400=)
c.7254A= (p.Arg2418=)
c.231-13801A=
c.7284A= (p.Arg2428=)
c.7179A= (p.Arg2393=)
c.7170A= (p.Arg2390=)
c.7131A= (p.Arg2377=)
c.7077A= (p.Arg2359=)
c.6981A= (p.Arg2327=)
c.6951A= (p.Arg2317=)
c.6876A= (p.Arg2292=)
c.6774A= (p.Arg2258=)
c.6405A= (p.Arg2135=)
5g.112842848A>CCA16037131APCc.7308A>C (p.Arg2436Ser)
c.*7260A>C (n.*7260A>C)
c.7200A>C (p.Arg2400Ser)
c.7254A>C (p.Arg2418Ser)
c.231-13801A>C
c.7284A>C (p.Arg2428Ser)
c.7179A>C (p.Arg2393Ser)
c.7170A>C (p.Arg2390Ser)
c.7131A>C (p.Arg2377Ser)
c.7077A>C (p.Arg2359Ser)
c.6981A>C (p.Arg2327Ser)
c.6951A>C (p.Arg2317Ser)
c.6876A>C (p.Arg2292Ser)
c.6774A>C (p.Arg2258Ser)
c.6405A>C (p.Arg2135Ser)
dbSNP
5g.112842848A>GCA047333APCc.7308A>G (p.Arg2436=)
c.*7260A>G (n.*7260A>G)
c.7200A>G (p.Arg2400=)
c.7254A>G (p.Arg2418=)
c.231-13801A>G
c.7284A>G (p.Arg2428=)
c.7179A>G (p.Arg2393=)
c.7170A>G (p.Arg2390=)
c.7131A>G (p.Arg2377=)
c.7077A>G (p.Arg2359=)
c.6981A>G (p.Arg2327=)
c.6951A>G (p.Arg2317=)
c.6876A>G (p.Arg2292=)
c.6774A>G (p.Arg2258=)
c.6405A>G (p.Arg2135=)
ClinVar dbSNP ExAC gnomAD v2
5g.112842848A>TCA16037132APCc.7308A>T (p.Arg2436Ser)
c.*7260A>T (n.*7260A>T)
c.7200A>T (p.Arg2400Ser)
c.7254A>T (p.Arg2418Ser)
c.231-13801A>T
c.7284A>T (p.Arg2428Ser)
c.7179A>T (p.Arg2393Ser)
c.7170A>T (p.Arg2390Ser)
c.7131A>T (p.Arg2377Ser)
c.7077A>T (p.Arg2359Ser)
c.6981A>T (p.Arg2327Ser)
c.6951A>T (p.Arg2317Ser)
c.6876A>T (p.Arg2292Ser)
c.6774A>T (p.Arg2258Ser)
c.6405A>T (p.Arg2135Ser)
dbSNP
5g.112842849A=CA1573468814APCc.7309A= (p.Met2437=)
c.*7261A= (n.*7261A=)
c.7201A= (p.Met2401=)
c.7255A= (p.Met2419=)
c.231-13800A=
c.7285A= (p.Met2429=)
c.7180A= (p.Met2394=)
c.7171A= (p.Met2391=)
c.7132A= (p.Met2378=)
c.7078A= (p.Met2360=)
c.6982A= (p.Met2328=)
c.6952A= (p.Met2318=)
c.6877A= (p.Met2293=)
c.6775A= (p.Met2259=)
c.6406A= (p.Met2136=)
5g.112842849A>CCA16037133APCc.7309A>C (p.Met2437Leu)
c.*7261A>C (n.*7261A>C)
c.7201A>C (p.Met2401Leu)
c.7255A>C (p.Met2419Leu)
c.231-13800A>C
c.7285A>C (p.Met2429Leu)
c.7180A>C (p.Met2394Leu)
c.7171A>C (p.Met2391Leu)
c.7132A>C (p.Met2378Leu)
c.7078A>C (p.Met2360Leu)
c.6982A>C (p.Met2328Leu)
c.6952A>C (p.Met2318Leu)
c.6877A>C (p.Met2293Leu)
c.6775A>C (p.Met2259Leu)
c.6406A>C (p.Met2136Leu)
ClinVar dbSNP
5g.112842849A>GCA012951APCc.7309A>G (p.Met2437Val)
c.*7261A>G (n.*7261A>G)
c.7201A>G (p.Met2401Val)
c.7255A>G (p.Met2419Val)
c.231-13800A>G
c.7285A>G (p.Met2429Val)
c.7180A>G (p.Met2394Val)
c.7171A>G (p.Met2391Val)
c.7132A>G (p.Met2378Val)
c.7078A>G (p.Met2360Val)
c.6982A>G (p.Met2328Val)
c.6952A>G (p.Met2318Val)
c.6877A>G (p.Met2293Val)
c.6775A>G (p.Met2259Val)
c.6406A>G (p.Met2136Val)
ClinVar dbSNP gnomAD v4
5g.112842849A>TCA16037134APCc.7309A>T (p.Met2437Leu)
c.*7261A>T (n.*7261A>T)
c.7201A>T (p.Met2401Leu)
c.7255A>T (p.Met2419Leu)
c.231-13800A>T
c.7285A>T (p.Met2429Leu)
c.7180A>T (p.Met2394Leu)
c.7171A>T (p.Met2391Leu)
c.7132A>T (p.Met2378Leu)
c.7078A>T (p.Met2360Leu)
c.6982A>T (p.Met2328Leu)
c.6952A>T (p.Met2318Leu)
c.6877A>T (p.Met2293Leu)
c.6775A>T (p.Met2259Leu)
c.6406A>T (p.Met2136Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842850T>ACA16037135APCc.7310T>A (p.Met2437Lys)
c.*7262T>A (n.*7262T>A)
c.7202T>A (p.Met2401Lys)
c.7256T>A (p.Met2419Lys)
c.231-13799T>A
c.7286T>A (p.Met2429Lys)
c.7181T>A (p.Met2394Lys)
c.7172T>A (p.Met2391Lys)
c.7133T>A (p.Met2378Lys)
c.7079T>A (p.Met2360Lys)
c.6983T>A (p.Met2328Lys)
c.6953T>A (p.Met2318Lys)
c.6878T>A (p.Met2293Lys)
c.6776T>A (p.Met2259Lys)
c.6407T>A (p.Met2136Lys)
dbSNP
5g.112842850T>CCA16037136APCc.7310T>C (p.Met2437Thr)
c.*7262T>C (n.*7262T>C)
c.7202T>C (p.Met2401Thr)
c.7256T>C (p.Met2419Thr)
c.231-13799T>C
c.7286T>C (p.Met2429Thr)
c.7181T>C (p.Met2394Thr)
c.7172T>C (p.Met2391Thr)
c.7133T>C (p.Met2378Thr)
c.7079T>C (p.Met2360Thr)
c.6983T>C (p.Met2328Thr)
c.6953T>C (p.Met2318Thr)
c.6878T>C (p.Met2293Thr)
c.6776T>C (p.Met2259Thr)
c.6407T>C (p.Met2136Thr)
ClinVar dbSNP
5g.112842850T>GCA16037137APCc.7310T>G (p.Met2437Arg)
c.*7262T>G (n.*7262T>G)
c.7202T>G (p.Met2401Arg)
c.7256T>G (p.Met2419Arg)
c.231-13799T>G
c.7286T>G (p.Met2429Arg)
c.7181T>G (p.Met2394Arg)
c.7172T>G (p.Met2391Arg)
c.7133T>G (p.Met2378Arg)
c.7079T>G (p.Met2360Arg)
c.6983T>G (p.Met2328Arg)
c.6953T>G (p.Met2318Arg)
c.6878T>G (p.Met2293Arg)
c.6776T>G (p.Met2259Arg)
c.6407T>G (p.Met2136Arg)
5g.112842851G>ACA3368171APCc.7311G>A (p.Met2437Ile)
c.*7263G>A (n.*7263G>A)
c.7203G>A (p.Met2401Ile)
c.7257G>A (p.Met2419Ile)
c.231-13798G>A
c.7287G>A (p.Met2429Ile)
c.7182G>A (p.Met2394Ile)
c.7173G>A (p.Met2391Ile)
c.7134G>A (p.Met2378Ile)
c.7080G>A (p.Met2360Ile)
c.6984G>A (p.Met2328Ile)
c.6954G>A (p.Met2318Ile)
c.6879G>A (p.Met2293Ile)
c.6777G>A (p.Met2259Ile)
c.6408G>A (p.Met2136Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842851G>CCA16037138APCc.7311G>C (p.Met2437Ile)
c.*7263G>C (n.*7263G>C)
c.7203G>C (p.Met2401Ile)
c.7257G>C (p.Met2419Ile)
c.231-13798G>C
c.7287G>C (p.Met2429Ile)
c.7182G>C (p.Met2394Ile)
c.7173G>C (p.Met2391Ile)
c.7134G>C (p.Met2378Ile)
c.7080G>C (p.Met2360Ile)
c.6984G>C (p.Met2328Ile)
c.6954G>C (p.Met2318Ile)
c.6879G>C (p.Met2293Ile)
c.6777G>C (p.Met2259Ile)
c.6408G>C (p.Met2136Ile)
dbSNP
5g.112842851G=CA1573468830APCc.7311G= (p.Met2437=)
c.*7263G= (n.*7263G=)
c.7203G= (p.Met2401=)
c.7257G= (p.Met2419=)
c.231-13798G=
c.7287G= (p.Met2429=)
c.7182G= (p.Met2394=)
c.7173G= (p.Met2391=)
c.7134G= (p.Met2378=)
c.7080G= (p.Met2360=)
c.6984G= (p.Met2328=)
c.6954G= (p.Met2318=)
c.6879G= (p.Met2293=)
c.6777G= (p.Met2259=)
c.6408G= (p.Met2136=)
5g.112842851G>TCA16037139APCc.7311G>T (p.Met2437Ile)
c.*7263G>T (n.*7263G>T)
c.7203G>T (p.Met2401Ile)
c.7257G>T (p.Met2419Ile)
c.231-13798G>T
c.7287G>T (p.Met2429Ile)
c.7182G>T (p.Met2394Ile)
c.7173G>T (p.Met2391Ile)
c.7134G>T (p.Met2378Ile)
c.7080G>T (p.Met2360Ile)
c.6984G>T (p.Met2328Ile)
c.6954G>T (p.Met2318Ile)
c.6879G>T (p.Met2293Ile)
c.6777G>T (p.Met2259Ile)
c.6408G>T (p.Met2136Ile)
5g.112842851_112842854delinsGTCTCA1573468826APCc.7311_7314delinsGTCT (p.Met2437=)
c.*7263_*7266delinsGTCT (n.*7263_*7266delinsGTCT)
c.7203_7206delinsGTCT (p.Met2401=)
c.7257_7260delinsGTCT (p.Met2419=)
c.231-13798_231-13795delinsGTCT
c.7287_7290delinsGTCT (p.Met2429=)
c.7182_7185delinsGTCT (p.Met2394=)
c.7173_7176delinsGTCT (p.Met2391=)
c.7134_7137delinsGTCT (p.Met2378=)
c.7080_7083delinsGTCT (p.Met2360=)
c.6984_6987delinsGTCT (p.Met2328=)
c.6954_6957delinsGTCT (p.Met2318=)
c.6879_6882delinsGTCT (p.Met2293=)
c.6777_6780delinsGTCT (p.Met2259=)
c.6408_6411delinsGTCT (p.Met2136=)
5g.112842852T>ACA16037140APCc.7312T>A (p.Ser2438Thr)
c.*7264T>A (n.*7264T>A)
c.7204T>A (p.Ser2402Thr)
c.7258T>A (p.Ser2420Thr)
c.231-13797T>A
c.7288T>A (p.Ser2430Thr)
c.7183T>A (p.Ser2395Thr)
c.7174T>A (p.Ser2392Thr)
c.7135T>A (p.Ser2379Thr)
c.7081T>A (p.Ser2361Thr)
c.6985T>A (p.Ser2329Thr)
c.6955T>A (p.Ser2319Thr)
c.6880T>A (p.Ser2294Thr)
c.6778T>A (p.Ser2260Thr)
c.6409T>A (p.Ser2137Thr)
dbSNP
5g.112842852T>CCA047370APCc.7312T>C (p.Ser2438Pro)
c.*7264T>C (n.*7264T>C)
c.7204T>C (p.Ser2402Pro)
c.7258T>C (p.Ser2420Pro)
c.231-13797T>C
c.7288T>C (p.Ser2430Pro)
c.7183T>C (p.Ser2395Pro)
c.7174T>C (p.Ser2392Pro)
c.7135T>C (p.Ser2379Pro)
c.7081T>C (p.Ser2361Pro)
c.6985T>C (p.Ser2329Pro)
c.6955T>C (p.Ser2319Pro)
c.6880T>C (p.Ser2294Pro)
c.6778T>C (p.Ser2260Pro)
c.6409T>C (p.Ser2137Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842852T>GCA16037141APCc.7312T>G (p.Ser2438Ala)
c.*7264T>G (n.*7264T>G)
c.7204T>G (p.Ser2402Ala)
c.7258T>G (p.Ser2420Ala)
c.231-13797T>G
c.7288T>G (p.Ser2430Ala)
c.7183T>G (p.Ser2395Ala)
c.7174T>G (p.Ser2392Ala)
c.7135T>G (p.Ser2379Ala)
c.7081T>G (p.Ser2361Ala)
c.6985T>G (p.Ser2329Ala)
c.6955T>G (p.Ser2319Ala)
c.6880T>G (p.Ser2294Ala)
c.6778T>G (p.Ser2260Ala)
c.6409T>G (p.Ser2137Ala)
ClinVar dbSNP
5g.112842852T=CA1573468847APCc.7312T= (p.Ser2438=)
c.*7264T= (n.*7264T=)
c.7204T= (p.Ser2402=)
c.7258T= (p.Ser2420=)
c.231-13797T=
c.7288T= (p.Ser2430=)
c.7183T= (p.Ser2395=)
c.7174T= (p.Ser2392=)
c.7135T= (p.Ser2379=)
c.7081T= (p.Ser2361=)
c.6985T= (p.Ser2329=)
c.6955T= (p.Ser2319=)
c.6880T= (p.Ser2294=)
c.6778T= (p.Ser2260=)
c.6409T= (p.Ser2137=)
5g.112842854_112842856delCA3368172APCc.7314_7316del (p.Ser2439del)
c.*7266_*7268del (n.*7266_*7268del)
c.7206_7208del (p.Ser2403del)
c.7260_7262del (p.Ser2421del)
c.231-13795_231-13793del
c.7290_7292del (p.Ser2431del)
c.7185_7187del (p.Ser2396del)
c.7176_7178del (p.Ser2393del)
c.7137_7139del (p.Ser2380del)
c.7083_7085del (p.Ser2362del)
c.6987_6989del (p.Ser2330del)
c.6957_6959del (p.Ser2320del)
c.6882_6884del (p.Ser2295del)
c.6780_6782del (p.Ser2261del)
c.6411_6413del (p.Ser2138del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842853C>ACA16037142APCc.7313C>A (p.Ser2438Tyr)
c.*7265C>A (n.*7265C>A)
c.7205C>A (p.Ser2402Tyr)
c.7259C>A (p.Ser2420Tyr)
c.231-13796C>A
c.7289C>A (p.Ser2430Tyr)
c.7184C>A (p.Ser2395Tyr)
c.7175C>A (p.Ser2392Tyr)
c.7136C>A (p.Ser2379Tyr)
c.7082C>A (p.Ser2361Tyr)
c.6986C>A (p.Ser2329Tyr)
c.6956C>A (p.Ser2319Tyr)
c.6881C>A (p.Ser2294Tyr)
c.6779C>A (p.Ser2260Tyr)
c.6410C>A (p.Ser2137Tyr)
dbSNP gnomAD v4
5g.112842853C>GCA16037143APCc.7313C>G (p.Ser2438Cys)
c.*7265C>G (n.*7265C>G)
c.7205C>G (p.Ser2402Cys)
c.7259C>G (p.Ser2420Cys)
c.231-13796C>G
c.7289C>G (p.Ser2430Cys)
c.7184C>G (p.Ser2395Cys)
c.7175C>G (p.Ser2392Cys)
c.7136C>G (p.Ser2379Cys)
c.7082C>G (p.Ser2361Cys)
c.6986C>G (p.Ser2329Cys)
c.6956C>G (p.Ser2319Cys)
c.6881C>G (p.Ser2294Cys)
c.6779C>G (p.Ser2260Cys)
c.6410C>G (p.Ser2137Cys)
dbSNP
5g.112842853C>TCA16037144APCc.7313C>T (p.Ser2438Phe)
c.*7265C>T (n.*7265C>T)
c.7205C>T (p.Ser2402Phe)
c.7259C>T (p.Ser2420Phe)
c.231-13796C>T
c.7289C>T (p.Ser2430Phe)
c.7184C>T (p.Ser2395Phe)
c.7175C>T (p.Ser2392Phe)
c.7136C>T (p.Ser2379Phe)
c.7082C>T (p.Ser2361Phe)
c.6986C>T (p.Ser2329Phe)
c.6956C>T (p.Ser2319Phe)
c.6881C>T (p.Ser2294Phe)
c.6779C>T (p.Ser2260Phe)
c.6410C>T (p.Ser2137Phe)
ClinVar dbSNP
5g.112842854T>ACA446210224APCc.7314T>A (p.Ser2438=)
c.*7266T>A (n.*7266T>A)
c.7206T>A (p.Ser2402=)
c.7260T>A (p.Ser2420=)
c.231-13795T>A
c.7290T>A (p.Ser2430=)
c.7185T>A (p.Ser2395=)
c.7176T>A (p.Ser2392=)
c.7137T>A (p.Ser2379=)
c.7083T>A (p.Ser2361=)
c.6987T>A (p.Ser2329=)
c.6957T>A (p.Ser2319=)
c.6882T>A (p.Ser2294=)
c.6780T>A (p.Ser2260=)
c.6411T>A (p.Ser2137=)
dbSNP
5g.112842854T>CCA047395APCc.7314T>C (p.Ser2438=)
c.*7266T>C (n.*7266T>C)
c.7206T>C (p.Ser2402=)
c.7260T>C (p.Ser2420=)
c.231-13795T>C
c.7290T>C (p.Ser2430=)
c.7185T>C (p.Ser2395=)
c.7176T>C (p.Ser2392=)
c.7137T>C (p.Ser2379=)
c.7083T>C (p.Ser2361=)
c.6987T>C (p.Ser2329=)
c.6957T>C (p.Ser2319=)
c.6882T>C (p.Ser2294=)
c.6780T>C (p.Ser2260=)
c.6411T>C (p.Ser2137=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112842854T>GCA446210225APCc.7314T>G (p.Ser2438=)
c.*7266T>G (n.*7266T>G)
c.7206T>G (p.Ser2402=)
c.7260T>G (p.Ser2420=)
c.231-13795T>G
c.7290T>G (p.Ser2430=)
c.7185T>G (p.Ser2395=)
c.7176T>G (p.Ser2392=)
c.7137T>G (p.Ser2379=)
c.7083T>G (p.Ser2361=)
c.6987T>G (p.Ser2329=)
c.6957T>G (p.Ser2319=)
c.6882T>G (p.Ser2294=)
c.6780T>G (p.Ser2260=)
c.6411T>G (p.Ser2137=)
dbSNP
5g.112842854T=CA1573468851APCc.7314T= (p.Ser2438=)
c.*7266T= (n.*7266T=)
c.7206T= (p.Ser2402=)
c.7260T= (p.Ser2420=)
c.231-13795T=
c.7290T= (p.Ser2430=)
c.7185T= (p.Ser2395=)
c.7176T= (p.Ser2392=)
c.7137T= (p.Ser2379=)
c.7083T= (p.Ser2361=)
c.6987T= (p.Ser2329=)
c.6957T= (p.Ser2319=)
c.6882T= (p.Ser2294=)
c.6780T= (p.Ser2260=)
c.6411T= (p.Ser2137=)
5g.112842855T>ACA16037145APCc.7315T>A (p.Ser2439Thr)
c.*7267T>A (n.*7267T>A)
c.7207T>A (p.Ser2403Thr)
c.7261T>A (p.Ser2421Thr)
c.231-13794T>A
c.7291T>A (p.Ser2431Thr)
c.7186T>A (p.Ser2396Thr)
c.7177T>A (p.Ser2393Thr)
c.7138T>A (p.Ser2380Thr)
c.7084T>A (p.Ser2362Thr)
c.6988T>A (p.Ser2330Thr)
c.6958T>A (p.Ser2320Thr)
c.6883T>A (p.Ser2295Thr)
c.6781T>A (p.Ser2261Thr)
c.6412T>A (p.Ser2138Thr)
dbSNP COSMIC
5g.112842855T>CCA16037146APCc.7315T>C (p.Ser2439Pro)
c.*7267T>C (n.*7267T>C)
c.7207T>C (p.Ser2403Pro)
c.7261T>C (p.Ser2421Pro)
c.231-13794T>C
c.7291T>C (p.Ser2431Pro)
c.7186T>C (p.Ser2396Pro)
c.7177T>C (p.Ser2393Pro)
c.7138T>C (p.Ser2380Pro)
c.7084T>C (p.Ser2362Pro)
c.6988T>C (p.Ser2330Pro)
c.6958T>C (p.Ser2320Pro)
c.6883T>C (p.Ser2295Pro)
c.6781T>C (p.Ser2261Pro)
c.6412T>C (p.Ser2138Pro)
dbSNP
5g.112842855T>GCA16037147APCc.7315T>G (p.Ser2439Ala)
c.*7267T>G (n.*7267T>G)
c.7207T>G (p.Ser2403Ala)
c.7261T>G (p.Ser2421Ala)
c.231-13794T>G
c.7291T>G (p.Ser2431Ala)
c.7186T>G (p.Ser2396Ala)
c.7177T>G (p.Ser2393Ala)
c.7138T>G (p.Ser2380Ala)
c.7084T>G (p.Ser2362Ala)
c.6988T>G (p.Ser2330Ala)
c.6958T>G (p.Ser2320Ala)
c.6883T>G (p.Ser2295Ala)
c.6781T>G (p.Ser2261Ala)
c.6412T>G (p.Ser2138Ala)
dbSNP
5g.112842856C>ACA16037148APCc.7316C>A (p.Ser2439Ter)
c.*7268C>A (n.*7268C>A)
c.7208C>A (p.Ser2403Ter)
c.7262C>A (p.Ser2421Ter)
c.231-13793C>A
c.7292C>A (p.Ser2431Ter)
c.7187C>A (p.Ser2396Ter)
c.7178C>A (p.Ser2393Ter)
c.7139C>A (p.Ser2380Ter)
c.7085C>A (p.Ser2362Ter)
c.6989C>A (p.Ser2330Ter)
c.6959C>A (p.Ser2320Ter)
c.6884C>A (p.Ser2295Ter)
c.6782C>A (p.Ser2261Ter)
c.6413C>A (p.Ser2138Ter)
dbSNP
5g.112842856C=CA1573468857APCc.7316C= (p.Ser2439=)
c.*7268C= (n.*7268C=)
c.7208C= (p.Ser2403=)
c.7262C= (p.Ser2421=)
c.231-13793C=
c.7292C= (p.Ser2431=)
c.7187C= (p.Ser2396=)
c.7178C= (p.Ser2393=)
c.7139C= (p.Ser2380=)
c.7085C= (p.Ser2362=)
c.6989C= (p.Ser2330=)
c.6959C= (p.Ser2320=)
c.6884C= (p.Ser2295=)
c.6782C= (p.Ser2261=)
c.6413C= (p.Ser2138=)
5g.112842856C>GCA16037149APCc.7316C>G (p.Ser2439Ter)
c.*7268C>G (n.*7268C>G)
c.7208C>G (p.Ser2403Ter)
c.7262C>G (p.Ser2421Ter)
c.231-13793C>G
c.7292C>G (p.Ser2431Ter)
c.7187C>G (p.Ser2396Ter)
c.7178C>G (p.Ser2393Ter)
c.7139C>G (p.Ser2380Ter)
c.7085C>G (p.Ser2362Ter)
c.6989C>G (p.Ser2330Ter)
c.6959C>G (p.Ser2320Ter)
c.6884C>G (p.Ser2295Ter)
c.6782C>G (p.Ser2261Ter)
c.6413C>G (p.Ser2138Ter)
dbSNP
5g.112842856C>TCA047405APCc.7316C>T (p.Ser2439Leu)
c.*7268C>T (n.*7268C>T)
c.7208C>T (p.Ser2403Leu)
c.7262C>T (p.Ser2421Leu)
c.231-13793C>T
c.7292C>T (p.Ser2431Leu)
c.7187C>T (p.Ser2396Leu)
c.7178C>T (p.Ser2393Leu)
c.7139C>T (p.Ser2380Leu)
c.7085C>T (p.Ser2362Leu)
c.6989C>T (p.Ser2330Leu)
c.6959C>T (p.Ser2320Leu)
c.6884C>T (p.Ser2295Leu)
c.6782C>T (p.Ser2261Leu)
c.6413C>T (p.Ser2138Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842857A>CCA446210226APCc.7317A>C (p.Ser2439=)
c.*7269A>C (n.*7269A>C)
c.7209A>C (p.Ser2403=)
c.7263A>C (p.Ser2421=)
c.231-13792A>C
c.7293A>C (p.Ser2431=)
c.7188A>C (p.Ser2396=)
c.7179A>C (p.Ser2393=)
c.7140A>C (p.Ser2380=)
c.7086A>C (p.Ser2362=)
c.6990A>C (p.Ser2330=)
c.6960A>C (p.Ser2320=)
c.6885A>C (p.Ser2295=)
c.6783A>C (p.Ser2261=)
c.6414A>C (p.Ser2138=)
ClinVar dbSNP
5g.112842857A>GCA446210227APCc.7317A>G (p.Ser2439=)
c.*7269A>G (n.*7269A>G)
c.7209A>G (p.Ser2403=)
c.7263A>G (p.Ser2421=)
c.231-13792A>G
c.7293A>G (p.Ser2431=)
c.7188A>G (p.Ser2396=)
c.7179A>G (p.Ser2393=)
c.7140A>G (p.Ser2380=)
c.7086A>G (p.Ser2362=)
c.6990A>G (p.Ser2330=)
c.6960A>G (p.Ser2320=)
c.6885A>G (p.Ser2295=)
c.6783A>G (p.Ser2261=)
c.6414A>G (p.Ser2138=)
ClinVar dbSNP gnomAD v4
5g.112842857A>TCA446210228APCc.7317A>T (p.Ser2439=)
c.*7269A>T (n.*7269A>T)
c.7209A>T (p.Ser2403=)
c.7263A>T (p.Ser2421=)
c.231-13792A>T
c.7293A>T (p.Ser2431=)
c.7188A>T (p.Ser2396=)
c.7179A>T (p.Ser2393=)
c.7140A>T (p.Ser2380=)
c.7086A>T (p.Ser2362=)
c.6990A>T (p.Ser2330=)
c.6960A>T (p.Ser2320=)
c.6885A>T (p.Ser2295=)
c.6783A>T (p.Ser2261=)
c.6414A>T (p.Ser2138=)
dbSNP
5g.112842858A=CA1573468870APCc.7318A= (p.Thr2440=)
c.*7270A= (n.*7270A=)
c.7210A= (p.Thr2404=)
c.7264A= (p.Thr2422=)
c.231-13791A=
c.7294A= (p.Thr2432=)
c.7189A= (p.Thr2397=)
c.7180A= (p.Thr2394=)
c.7141A= (p.Thr2381=)
c.7087A= (p.Thr2363=)
c.6991A= (p.Thr2331=)
c.6961A= (p.Thr2321=)
c.6886A= (p.Thr2296=)
c.6784A= (p.Thr2262=)
c.6415A= (p.Thr2139=)
5g.112842858A>CCA10584264APCc.7318A>C (p.Thr2440Pro)
c.*7270A>C (n.*7270A>C)
c.7210A>C (p.Thr2404Pro)
c.7264A>C (p.Thr2422Pro)
c.231-13791A>C
c.7294A>C (p.Thr2432Pro)
c.7189A>C (p.Thr2397Pro)
c.7180A>C (p.Thr2394Pro)
c.7141A>C (p.Thr2381Pro)
c.7087A>C (p.Thr2363Pro)
c.6991A>C (p.Thr2331Pro)
c.6961A>C (p.Thr2321Pro)
c.6886A>C (p.Thr2296Pro)
c.6784A>C (p.Thr2262Pro)
c.6415A>C (p.Thr2139Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842858A>GCA012961APCc.7318A>G (p.Thr2440Ala)
c.*7270A>G (n.*7270A>G)
c.7210A>G (p.Thr2404Ala)
c.7264A>G (p.Thr2422Ala)
c.231-13791A>G
c.7294A>G (p.Thr2432Ala)
c.7189A>G (p.Thr2397Ala)
c.7180A>G (p.Thr2394Ala)
c.7141A>G (p.Thr2381Ala)
c.7087A>G (p.Thr2363Ala)
c.6991A>G (p.Thr2331Ala)
c.6961A>G (p.Thr2321Ala)
c.6886A>G (p.Thr2296Ala)
c.6784A>G (p.Thr2262Ala)
c.6415A>G (p.Thr2139Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842858A>TCA047427APCc.7318A>T (p.Thr2440Ser)
c.*7270A>T (n.*7270A>T)
c.7210A>T (p.Thr2404Ser)
c.7264A>T (p.Thr2422Ser)
c.231-13791A>T
c.7294A>T (p.Thr2432Ser)
c.7189A>T (p.Thr2397Ser)
c.7180A>T (p.Thr2394Ser)
c.7141A>T (p.Thr2381Ser)
c.7087A>T (p.Thr2363Ser)
c.6991A>T (p.Thr2331Ser)
c.6961A>T (p.Thr2321Ser)
c.6886A>T (p.Thr2296Ser)
c.6784A>T (p.Thr2262Ser)
c.6415A>T (p.Thr2139Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842859C>ACA16037150APCc.7319C>A (p.Thr2440Asn)
c.*7271C>A (n.*7271C>A)
c.7211C>A (p.Thr2404Asn)
c.7265C>A (p.Thr2422Asn)
c.231-13790C>A
c.7295C>A (p.Thr2432Asn)
c.7190C>A (p.Thr2397Asn)
c.7181C>A (p.Thr2394Asn)
c.7142C>A (p.Thr2381Asn)
c.7088C>A (p.Thr2363Asn)
c.6992C>A (p.Thr2331Asn)
c.6962C>A (p.Thr2321Asn)
c.6887C>A (p.Thr2296Asn)
c.6785C>A (p.Thr2262Asn)
c.6416C>A (p.Thr2139Asn)
dbSNP
5g.112842859C=CA1573468887APCc.7319C= (p.Thr2440=)
c.*7271C= (n.*7271C=)
c.7211C= (p.Thr2404=)
c.7265C= (p.Thr2422=)
c.231-13790C=
c.7295C= (p.Thr2432=)
c.7190C= (p.Thr2397=)
c.7181C= (p.Thr2394=)
c.7142C= (p.Thr2381=)
c.7088C= (p.Thr2363=)
c.6992C= (p.Thr2331=)
c.6962C= (p.Thr2321=)
c.6887C= (p.Thr2296=)
c.6785C= (p.Thr2262=)
c.6416C= (p.Thr2139=)
5g.112842859C>GCA16037151APCc.7319C>G (p.Thr2440Ser)
c.*7271C>G (n.*7271C>G)
c.7211C>G (p.Thr2404Ser)
c.7265C>G (p.Thr2422Ser)
c.231-13790C>G
c.7295C>G (p.Thr2432Ser)
c.7190C>G (p.Thr2397Ser)
c.7181C>G (p.Thr2394Ser)
c.7142C>G (p.Thr2381Ser)
c.7088C>G (p.Thr2363Ser)
c.6992C>G (p.Thr2331Ser)
c.6962C>G (p.Thr2321Ser)
c.6887C>G (p.Thr2296Ser)
c.6785C>G (p.Thr2262Ser)
c.6416C>G (p.Thr2139Ser)
ClinVar dbSNP
5g.112842859C>TCA16037152APCc.7319C>T (p.Thr2440Ile)
c.*7271C>T (n.*7271C>T)
c.7211C>T (p.Thr2404Ile)
c.7265C>T (p.Thr2422Ile)
c.231-13790C>T
c.7295C>T (p.Thr2432Ile)
c.7190C>T (p.Thr2397Ile)
c.7181C>T (p.Thr2394Ile)
c.7142C>T (p.Thr2381Ile)
c.7088C>T (p.Thr2363Ile)
c.6992C>T (p.Thr2331Ile)
c.6962C>T (p.Thr2321Ile)
c.6887C>T (p.Thr2296Ile)
c.6785C>T (p.Thr2262Ile)
c.6416C>T (p.Thr2139Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842860T>ACA047442APCc.7320T>A (p.Thr2440=)
c.*7272T>A (n.*7272T>A)
c.7212T>A (p.Thr2404=)
c.7266T>A (p.Thr2422=)
c.231-13789T>A
c.7296T>A (p.Thr2432=)
c.7191T>A (p.Thr2397=)
c.7182T>A (p.Thr2394=)
c.7143T>A (p.Thr2381=)
c.7089T>A (p.Thr2363=)
c.6993T>A (p.Thr2331=)
c.6963T>A (p.Thr2321=)
c.6888T>A (p.Thr2296=)
c.6786T>A (p.Thr2262=)
c.6417T>A (p.Thr2139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842860T>CCA047464APCc.7320T>C (p.Thr2440=)
c.*7272T>C (n.*7272T>C)
c.7212T>C (p.Thr2404=)
c.7266T>C (p.Thr2422=)
c.231-13789T>C
c.7296T>C (p.Thr2432=)
c.7191T>C (p.Thr2397=)
c.7182T>C (p.Thr2394=)
c.7143T>C (p.Thr2381=)
c.7089T>C (p.Thr2363=)
c.6993T>C (p.Thr2331=)
c.6963T>C (p.Thr2321=)
c.6888T>C (p.Thr2296=)
c.6786T>C (p.Thr2262=)
c.6417T>C (p.Thr2139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842860T>GCA446210229APCc.7320T>G (p.Thr2440=)
c.*7272T>G (n.*7272T>G)
c.7212T>G (p.Thr2404=)
c.7266T>G (p.Thr2422=)
c.231-13789T>G
c.7296T>G (p.Thr2432=)
c.7191T>G (p.Thr2397=)
c.7182T>G (p.Thr2394=)
c.7143T>G (p.Thr2381=)
c.7089T>G (p.Thr2363=)
c.6993T>G (p.Thr2331=)
c.6963T>G (p.Thr2321=)
c.6888T>G (p.Thr2296=)
c.6786T>G (p.Thr2262=)
c.6417T>G (p.Thr2139=)
5g.112842860T=CA1573468896APCc.7320T= (p.Thr2440=)
c.*7272T= (n.*7272T=)
c.7212T= (p.Thr2404=)
c.7266T= (p.Thr2422=)
c.231-13789T=
c.7296T= (p.Thr2432=)
c.7191T= (p.Thr2397=)
c.7182T= (p.Thr2394=)
c.7143T= (p.Thr2381=)
c.7089T= (p.Thr2363=)
c.6993T= (p.Thr2331=)
c.6963T= (p.Thr2321=)
c.6888T= (p.Thr2296=)
c.6786T= (p.Thr2262=)
c.6417T= (p.Thr2139=)
5g.112842861A>CCA16037153APCc.7321A>C (p.Lys2441Gln)
c.*7273A>C (n.*7273A>C)
c.7213A>C (p.Lys2405Gln)
c.7267A>C (p.Lys2423Gln)
c.231-13788A>C
c.7297A>C (p.Lys2433Gln)
c.7192A>C (p.Lys2398Gln)
c.7183A>C (p.Lys2395Gln)
c.7144A>C (p.Lys2382Gln)
c.7090A>C (p.Lys2364Gln)
c.6994A>C (p.Lys2332Gln)
c.6964A>C (p.Lys2322Gln)
c.6889A>C (p.Lys2297Gln)
c.6787A>C (p.Lys2263Gln)
c.6418A>C (p.Lys2140Gln)
5g.112842861A>GCA16037154APCc.7321A>G (p.Lys2441Glu)
c.*7273A>G (n.*7273A>G)
c.7213A>G (p.Lys2405Glu)
c.7267A>G (p.Lys2423Glu)
c.231-13788A>G
c.7297A>G (p.Lys2433Glu)
c.7192A>G (p.Lys2398Glu)
c.7183A>G (p.Lys2395Glu)
c.7144A>G (p.Lys2382Glu)
c.7090A>G (p.Lys2364Glu)
c.6994A>G (p.Lys2332Glu)
c.6964A>G (p.Lys2322Glu)
c.6889A>G (p.Lys2297Glu)
c.6787A>G (p.Lys2263Glu)
c.6418A>G (p.Lys2140Glu)
5g.112842861A>TCA16037155APCc.7321A>T (p.Lys2441Ter)
c.*7273A>T (n.*7273A>T)
c.7213A>T (p.Lys2405Ter)
c.7267A>T (p.Lys2423Ter)
c.231-13788A>T
c.7297A>T (p.Lys2433Ter)
c.7192A>T (p.Lys2398Ter)
c.7183A>T (p.Lys2395Ter)
c.7144A>T (p.Lys2382Ter)
c.7090A>T (p.Lys2364Ter)
c.6994A>T (p.Lys2332Ter)
c.6964A>T (p.Lys2322Ter)
c.6889A>T (p.Lys2297Ter)
c.6787A>T (p.Lys2263Ter)
c.6418A>T (p.Lys2140Ter)
dbSNP
5g.112842861_112842865delinsAAATCCA1573468918APCc.7321_7325delinsAAATC (p.Lys2441=)
c.*7273_*7277delinsAAATC (n.*7273_*7277delinsAAATC)
c.7213_7217delinsAAATC (p.Lys2405=)
c.7267_7271delinsAAATC (p.Lys2423=)
c.231-13788_231-13784delinsAAATC
c.7297_7301delinsAAATC (p.Lys2433=)
c.7192_7196delinsAAATC (p.Lys2398=)
c.7183_7187delinsAAATC (p.Lys2395=)
c.7144_7148delinsAAATC (p.Lys2382=)
c.7090_7094delinsAAATC (p.Lys2364=)
c.6994_6998delinsAAATC (p.Lys2332=)
c.6964_6968delinsAAATC (p.Lys2322=)
c.6889_6893delinsAAATC (p.Lys2297=)
c.6787_6791delinsAAATC (p.Lys2263=)
c.6418_6422delinsAAATC (p.Lys2140=)
5g.112842862A>CCA16037156APCc.7322A>C (p.Lys2441Thr)
c.*7274A>C (n.*7274A>C)
c.7214A>C (p.Lys2405Thr)
c.7268A>C (p.Lys2423Thr)
c.231-13787A>C
c.7298A>C (p.Lys2433Thr)
c.7193A>C (p.Lys2398Thr)
c.7184A>C (p.Lys2395Thr)
c.7145A>C (p.Lys2382Thr)
c.7091A>C (p.Lys2364Thr)
c.6995A>C (p.Lys2332Thr)
c.6965A>C (p.Lys2322Thr)
c.6890A>C (p.Lys2297Thr)
c.6788A>C (p.Lys2263Thr)
c.6419A>C (p.Lys2140Thr)
5g.112842862A>GCA16037157APCc.7322A>G (p.Lys2441Arg)
c.*7274A>G (n.*7274A>G)
c.7214A>G (p.Lys2405Arg)
c.7268A>G (p.Lys2423Arg)
c.231-13787A>G
c.7298A>G (p.Lys2433Arg)
c.7193A>G (p.Lys2398Arg)
c.7184A>G (p.Lys2395Arg)
c.7145A>G (p.Lys2382Arg)
c.7091A>G (p.Lys2364Arg)
c.6995A>G (p.Lys2332Arg)
c.6965A>G (p.Lys2322Arg)
c.6890A>G (p.Lys2297Arg)
c.6788A>G (p.Lys2263Arg)
c.6419A>G (p.Lys2140Arg)
dbSNP
5g.112842862A>TCA16037158APCc.7322A>T (p.Lys2441Ile)
c.*7274A>T (n.*7274A>T)
c.7214A>T (p.Lys2405Ile)
c.7268A>T (p.Lys2423Ile)
c.231-13787A>T
c.7298A>T (p.Lys2433Ile)
c.7193A>T (p.Lys2398Ile)
c.7184A>T (p.Lys2395Ile)
c.7145A>T (p.Lys2382Ile)
c.7091A>T (p.Lys2364Ile)
c.6995A>T (p.Lys2332Ile)
c.6965A>T (p.Lys2322Ile)
c.6890A>T (p.Lys2297Ile)
c.6788A>T (p.Lys2263Ile)
c.6419A>T (p.Lys2140Ile)
dbSNP
5g.112842864_112842867delCA658683427APCc.7324_7327del (p.Ser2442ValfsTer13)
c.*7276_*7279del (n.*7276_*7279del)
c.7216_7219del (p.Ser2406ValfsTer13)
c.7270_7273del (p.Ser2424ValfsTer13)
c.231-13785_231-13782del
c.7300_7303del (p.Ser2434ValfsTer13)
c.7195_7198del (p.Ser2399ValfsTer13)
c.7186_7189del (p.Ser2396ValfsTer13)
c.7147_7150del (p.Ser2383ValfsTer13)
c.7093_7096del (p.Ser2365ValfsTer13)
c.6997_7000del (p.Ser2333ValfsTer13)
c.6967_6970del (p.Ser2323ValfsTer13)
c.6892_6895del (p.Ser2298ValfsTer13)
c.6790_6793del (p.Ser2264ValfsTer13)
c.6421_6424del (p.Ser2141ValfsTer13)
ClinVar dbSNP
5g.112842863A=CA1573468974APCc.7323A= (p.Lys2441=)
c.*7275A= (n.*7275A=)
c.7215A= (p.Lys2405=)
c.7269A= (p.Lys2423=)
c.231-13786A=
c.7299A= (p.Lys2433=)
c.7194A= (p.Lys2398=)
c.7185A= (p.Lys2395=)
c.7146A= (p.Lys2382=)
c.7092A= (p.Lys2364=)
c.6996A= (p.Lys2332=)
c.6966A= (p.Lys2322=)
c.6891A= (p.Lys2297=)
c.6789A= (p.Lys2263=)
c.6420A= (p.Lys2140=)
5g.112842863A>CCA16037159APCc.7323A>C (p.Lys2441Asn)
c.*7275A>C (n.*7275A>C)
c.7215A>C (p.Lys2405Asn)
c.7269A>C (p.Lys2423Asn)
c.231-13786A>C
c.7299A>C (p.Lys2433Asn)
c.7194A>C (p.Lys2398Asn)
c.7185A>C (p.Lys2395Asn)
c.7146A>C (p.Lys2382Asn)
c.7092A>C (p.Lys2364Asn)
c.6996A>C (p.Lys2332Asn)
c.6966A>C (p.Lys2322Asn)
c.6891A>C (p.Lys2297Asn)
c.6789A>C (p.Lys2263Asn)
c.6420A>C (p.Lys2140Asn)
dbSNP
5g.112842863A>GCA012972APCc.7323A>G (p.Lys2441=)
c.*7275A>G (n.*7275A>G)
c.7215A>G (p.Lys2405=)
c.7269A>G (p.Lys2423=)
c.231-13786A>G
c.7299A>G (p.Lys2433=)
c.7194A>G (p.Lys2398=)
c.7185A>G (p.Lys2395=)
c.7146A>G (p.Lys2382=)
c.7092A>G (p.Lys2364=)
c.6996A>G (p.Lys2332=)
c.6966A>G (p.Lys2322=)
c.6891A>G (p.Lys2297=)
c.6789A>G (p.Lys2263=)
c.6420A>G (p.Lys2140=)
ClinVar dbSNP gnomAD v4
5g.112842863A>TCA16037160APCc.7323A>T (p.Lys2441Asn)
c.*7275A>T (n.*7275A>T)
c.7215A>T (p.Lys2405Asn)
c.7269A>T (p.Lys2423Asn)
c.231-13786A>T
c.7299A>T (p.Lys2433Asn)
c.7194A>T (p.Lys2398Asn)
c.7185A>T (p.Lys2395Asn)
c.7146A>T (p.Lys2382Asn)
c.7092A>T (p.Lys2364Asn)
c.6996A>T (p.Lys2332Asn)
c.6966A>T (p.Lys2322Asn)
c.6891A>T (p.Lys2297Asn)
c.6789A>T (p.Lys2263Asn)
c.6420A>T (p.Lys2140Asn)
dbSNP
5g.112842864T>ACA16037161APCc.7324T>A (p.Ser2442Thr)
c.*7276T>A (n.*7276T>A)
c.7216T>A (p.Ser2406Thr)
c.7270T>A (p.Ser2424Thr)
c.231-13785T>A
c.7300T>A (p.Ser2434Thr)
c.7195T>A (p.Ser2399Thr)
c.7186T>A (p.Ser2396Thr)
c.7147T>A (p.Ser2383Thr)
c.7093T>A (p.Ser2365Thr)
c.6997T>A (p.Ser2333Thr)
c.6967T>A (p.Ser2323Thr)
c.6892T>A (p.Ser2298Thr)
c.6790T>A (p.Ser2264Thr)
c.6421T>A (p.Ser2141Thr)
dbSNP
5g.112842864T>CCA16037162APCc.7324T>C (p.Ser2442Pro)
c.*7276T>C (n.*7276T>C)
c.7216T>C (p.Ser2406Pro)
c.7270T>C (p.Ser2424Pro)
c.231-13785T>C
c.7300T>C (p.Ser2434Pro)
c.7195T>C (p.Ser2399Pro)
c.7186T>C (p.Ser2396Pro)
c.7147T>C (p.Ser2383Pro)
c.7093T>C (p.Ser2365Pro)
c.6997T>C (p.Ser2333Pro)
c.6967T>C (p.Ser2323Pro)
c.6892T>C (p.Ser2298Pro)
c.6790T>C (p.Ser2264Pro)
c.6421T>C (p.Ser2141Pro)
dbSNP gnomAD v4
5g.112842864T>GCA16037163APCc.7324T>G (p.Ser2442Ala)
c.*7276T>G (n.*7276T>G)
c.7216T>G (p.Ser2406Ala)
c.7270T>G (p.Ser2424Ala)
c.231-13785T>G
c.7300T>G (p.Ser2434Ala)
c.7195T>G (p.Ser2399Ala)
c.7186T>G (p.Ser2396Ala)
c.7147T>G (p.Ser2383Ala)
c.7093T>G (p.Ser2365Ala)
c.6997T>G (p.Ser2333Ala)
c.6967T>G (p.Ser2323Ala)
c.6892T>G (p.Ser2298Ala)
c.6790T>G (p.Ser2264Ala)
c.6421T>G (p.Ser2141Ala)
dbSNP
5g.112842865C>ACA16037164APCc.7325C>A (p.Ser2442Ter)
c.*7277C>A (n.*7277C>A)
c.7217C>A (p.Ser2406Ter)
c.7271C>A (p.Ser2424Ter)
c.231-13784C>A
c.7301C>A (p.Ser2434Ter)
c.7196C>A (p.Ser2399Ter)
c.7187C>A (p.Ser2396Ter)
c.7148C>A (p.Ser2383Ter)
c.7094C>A (p.Ser2365Ter)
c.6998C>A (p.Ser2333Ter)
c.6968C>A (p.Ser2323Ter)
c.6893C>A (p.Ser2298Ter)
c.6791C>A (p.Ser2264Ter)
c.6422C>A (p.Ser2141Ter)
dbSNP
5g.112842865C=CA1573468988APCc.7325C= (p.Ser2442=)
c.*7277C= (n.*7277C=)
c.7217C= (p.Ser2406=)
c.7271C= (p.Ser2424=)
c.231-13784C=
c.7301C= (p.Ser2434=)
c.7196C= (p.Ser2399=)
c.7187C= (p.Ser2396=)
c.7148C= (p.Ser2383=)
c.7094C= (p.Ser2365=)
c.6998C= (p.Ser2333=)
c.6968C= (p.Ser2323=)
c.6893C= (p.Ser2298=)
c.6791C= (p.Ser2264=)
c.6422C= (p.Ser2141=)
5g.112842865C>GCA16037165APCc.7325C>G (p.Ser2442Ter)
c.*7277C>G (n.*7277C>G)
c.7217C>G (p.Ser2406Ter)
c.7271C>G (p.Ser2424Ter)
c.231-13784C>G
c.7301C>G (p.Ser2434Ter)
c.7196C>G (p.Ser2399Ter)
c.7187C>G (p.Ser2396Ter)
c.7148C>G (p.Ser2383Ter)
c.7094C>G (p.Ser2365Ter)
c.6998C>G (p.Ser2333Ter)
c.6968C>G (p.Ser2323Ter)
c.6893C>G (p.Ser2298Ter)
c.6791C>G (p.Ser2264Ter)
c.6422C>G (p.Ser2141Ter)
ClinVar dbSNP
5g.112842865C>TCA16037166APCc.7325C>T (p.Ser2442Leu)
c.*7277C>T (n.*7277C>T)
c.7217C>T (p.Ser2406Leu)
c.7271C>T (p.Ser2424Leu)
c.231-13784C>T
c.7301C>T (p.Ser2434Leu)
c.7196C>T (p.Ser2399Leu)
c.7187C>T (p.Ser2396Leu)
c.7148C>T (p.Ser2383Leu)
c.7094C>T (p.Ser2365Leu)
c.6998C>T (p.Ser2333Leu)
c.6968C>T (p.Ser2323Leu)
c.6893C>T (p.Ser2298Leu)
c.6791C>T (p.Ser2264Leu)
c.6422C>T (p.Ser2141Leu)
dbSNP
5g.112842866A=CA1573469004APCc.7326A= (p.Ser2442=)
c.*7278A= (n.*7278A=)
c.7218A= (p.Ser2406=)
c.7272A= (p.Ser2424=)
c.231-13783A=
c.7302A= (p.Ser2434=)
c.7197A= (p.Ser2399=)
c.7188A= (p.Ser2396=)
c.7149A= (p.Ser2383=)
c.7095A= (p.Ser2365=)
c.6999A= (p.Ser2333=)
c.6969A= (p.Ser2323=)
c.6894A= (p.Ser2298=)
c.6792A= (p.Ser2264=)
c.6423A= (p.Ser2141=)
5g.112842866A>CCA446210230APCc.7326A>C (p.Ser2442=)
c.*7278A>C (n.*7278A>C)
c.7218A>C (p.Ser2406=)
c.7272A>C (p.Ser2424=)
c.231-13783A>C
c.7302A>C (p.Ser2434=)
c.7197A>C (p.Ser2399=)
c.7188A>C (p.Ser2396=)
c.7149A>C (p.Ser2383=)
c.7095A>C (p.Ser2365=)
c.6999A>C (p.Ser2333=)
c.6969A>C (p.Ser2323=)
c.6894A>C (p.Ser2298=)
c.6792A>C (p.Ser2264=)
c.6423A>C (p.Ser2141=)
5g.112842866A>GCA446210231APCc.7326A>G (p.Ser2442=)
c.*7278A>G (n.*7278A>G)
c.7218A>G (p.Ser2406=)
c.7272A>G (p.Ser2424=)
c.231-13783A>G
c.7302A>G (p.Ser2434=)
c.7197A>G (p.Ser2399=)
c.7188A>G (p.Ser2396=)
c.7149A>G (p.Ser2383=)
c.7095A>G (p.Ser2365=)
c.6999A>G (p.Ser2333=)
c.6969A>G (p.Ser2323=)
c.6894A>G (p.Ser2298=)
c.6792A>G (p.Ser2264=)
c.6423A>G (p.Ser2141=)
ClinVar dbSNP
5g.112842866A>TCA446210232APCc.7326A>T (p.Ser2442=)
c.*7278A>T (n.*7278A>T)
c.7218A>T (p.Ser2406=)
c.7272A>T (p.Ser2424=)
c.231-13783A>T
c.7302A>T (p.Ser2434=)
c.7197A>T (p.Ser2399=)
c.7188A>T (p.Ser2396=)
c.7149A>T (p.Ser2383=)
c.7095A>T (p.Ser2365=)
c.6999A>T (p.Ser2333=)
c.6969A>T (p.Ser2323=)
c.6894A>T (p.Ser2298=)
c.6792A>T (p.Ser2264=)
c.6423A>T (p.Ser2141=)
dbSNP
5g.112842867A=CA1573469009APCc.7327A= (p.Ser2443=)
c.*7279A= (n.*7279A=)
c.7219A= (p.Ser2407=)
c.7273A= (p.Ser2425=)
c.231-13782A=
c.7303A= (p.Ser2435=)
c.7198A= (p.Ser2400=)
c.7189A= (p.Ser2397=)
c.7150A= (p.Ser2384=)
c.7096A= (p.Ser2366=)
c.7000A= (p.Ser2334=)
c.6970A= (p.Ser2324=)
c.6895A= (p.Ser2299=)
c.6793A= (p.Ser2265=)
c.6424A= (p.Ser2142=)
5g.112842867A>CCA16037167APCc.7327A>C (p.Ser2443Arg)
c.*7279A>C (n.*7279A>C)
c.7219A>C (p.Ser2407Arg)
c.7273A>C (p.Ser2425Arg)
c.231-13782A>C
c.7303A>C (p.Ser2435Arg)
c.7198A>C (p.Ser2400Arg)
c.7189A>C (p.Ser2397Arg)
c.7150A>C (p.Ser2384Arg)
c.7096A>C (p.Ser2366Arg)
c.7000A>C (p.Ser2334Arg)
c.6970A>C (p.Ser2324Arg)
c.6895A>C (p.Ser2299Arg)
c.6793A>C (p.Ser2265Arg)
c.6424A>C (p.Ser2142Arg)
5g.112842867A>GCA012981APCc.7327A>G (p.Ser2443Gly)
c.*7279A>G (n.*7279A>G)
c.7219A>G (p.Ser2407Gly)
c.7273A>G (p.Ser2425Gly)
c.231-13782A>G
c.7303A>G (p.Ser2435Gly)
c.7198A>G (p.Ser2400Gly)
c.7189A>G (p.Ser2397Gly)
c.7150A>G (p.Ser2384Gly)
c.7096A>G (p.Ser2366Gly)
c.7000A>G (p.Ser2334Gly)
c.6970A>G (p.Ser2324Gly)
c.6895A>G (p.Ser2299Gly)
c.6793A>G (p.Ser2265Gly)
c.6424A>G (p.Ser2142Gly)
ClinVar dbSNP
5g.112842867A>TCA16037168APCc.7327A>T (p.Ser2443Cys)
c.*7279A>T (n.*7279A>T)
c.7219A>T (p.Ser2407Cys)
c.7273A>T (p.Ser2425Cys)
c.231-13782A>T
c.7303A>T (p.Ser2435Cys)
c.7198A>T (p.Ser2400Cys)
c.7189A>T (p.Ser2397Cys)
c.7150A>T (p.Ser2384Cys)
c.7096A>T (p.Ser2366Cys)
c.7000A>T (p.Ser2334Cys)
c.6970A>T (p.Ser2324Cys)
c.6895A>T (p.Ser2299Cys)
c.6793A>T (p.Ser2265Cys)
c.6424A>T (p.Ser2142Cys)
dbSNP
5g.112842868G>ACA16037169APCc.7328G>A (p.Ser2443Asn)
c.*7280G>A (n.*7280G>A)
c.7220G>A (p.Ser2407Asn)
c.7274G>A (p.Ser2425Asn)
c.231-13781G>A
c.7304G>A (p.Ser2435Asn)
c.7199G>A (p.Ser2400Asn)
c.7190G>A (p.Ser2397Asn)
c.7151G>A (p.Ser2384Asn)
c.7097G>A (p.Ser2366Asn)
c.7001G>A (p.Ser2334Asn)
c.6971G>A (p.Ser2324Asn)
c.6896G>A (p.Ser2299Asn)
c.6794G>A (p.Ser2265Asn)
c.6425G>A (p.Ser2142Asn)
ClinVar dbSNP gnomAD v4
5g.112842868G>CCA16037170APCc.7328G>C (p.Ser2443Thr)
c.*7280G>C (n.*7280G>C)
c.7220G>C (p.Ser2407Thr)
c.7274G>C (p.Ser2425Thr)
c.231-13781G>C
c.7304G>C (p.Ser2435Thr)
c.7199G>C (p.Ser2400Thr)
c.7190G>C (p.Ser2397Thr)
c.7151G>C (p.Ser2384Thr)
c.7097G>C (p.Ser2366Thr)
c.7001G>C (p.Ser2334Thr)
c.6971G>C (p.Ser2324Thr)
c.6896G>C (p.Ser2299Thr)
c.6794G>C (p.Ser2265Thr)
c.6425G>C (p.Ser2142Thr)
ClinVar dbSNP
5g.112842868G=CA1573469023APCc.7328G= (p.Ser2443=)
c.*7280G= (n.*7280G=)
c.7220G= (p.Ser2407=)
c.7274G= (p.Ser2425=)
c.231-13781G=
c.7304G= (p.Ser2435=)
c.7199G= (p.Ser2400=)
c.7190G= (p.Ser2397=)
c.7151G= (p.Ser2384=)
c.7097G= (p.Ser2366=)
c.7001G= (p.Ser2334=)
c.6971G= (p.Ser2324=)
c.6896G= (p.Ser2299=)
c.6794G= (p.Ser2265=)
c.6425G= (p.Ser2142=)
5g.112842868G>TCA16037171APCc.7328G>T (p.Ser2443Ile)
c.*7280G>T (n.*7280G>T)
c.7220G>T (p.Ser2407Ile)
c.7274G>T (p.Ser2425Ile)
c.231-13781G>T
c.7304G>T (p.Ser2435Ile)
c.7199G>T (p.Ser2400Ile)
c.7190G>T (p.Ser2397Ile)
c.7151G>T (p.Ser2384Ile)
c.7097G>T (p.Ser2366Ile)
c.7001G>T (p.Ser2334Ile)
c.6971G>T (p.Ser2324Ile)
c.6896G>T (p.Ser2299Ile)
c.6794G>T (p.Ser2265Ile)
c.6425G>T (p.Ser2142Ile)
5g.112842869T>ACA16037172APCc.7329T>A (p.Ser2443Arg)
c.*7281T>A (n.*7281T>A)
c.7221T>A (p.Ser2407Arg)
c.7275T>A (p.Ser2425Arg)
c.231-13780T>A
c.7305T>A (p.Ser2435Arg)
c.7200T>A (p.Ser2400Arg)
c.7191T>A (p.Ser2397Arg)
c.7152T>A (p.Ser2384Arg)
c.7098T>A (p.Ser2366Arg)
c.7002T>A (p.Ser2334Arg)
c.6972T>A (p.Ser2324Arg)
c.6897T>A (p.Ser2299Arg)
c.6795T>A (p.Ser2265Arg)
c.6426T>A (p.Ser2142Arg)
5g.112842869T>CCA446210233APCc.7329T>C (p.Ser2443=)
c.*7281T>C (n.*7281T>C)
c.7221T>C (p.Ser2407=)
c.7275T>C (p.Ser2425=)
c.231-13780T>C
c.7305T>C (p.Ser2435=)
c.7200T>C (p.Ser2400=)
c.7191T>C (p.Ser2397=)
c.7152T>C (p.Ser2384=)
c.7098T>C (p.Ser2366=)
c.7002T>C (p.Ser2334=)
c.6972T>C (p.Ser2324=)
c.6897T>C (p.Ser2299=)
c.6795T>C (p.Ser2265=)
c.6426T>C (p.Ser2142=)
ClinVar
5g.112842869T>GCA16037173APCc.7329T>G (p.Ser2443Arg)
c.*7281T>G (n.*7281T>G)
c.7221T>G (p.Ser2407Arg)
c.7275T>G (p.Ser2425Arg)
c.231-13780T>G
c.7305T>G (p.Ser2435Arg)
c.7200T>G (p.Ser2400Arg)
c.7191T>G (p.Ser2397Arg)
c.7152T>G (p.Ser2384Arg)
c.7098T>G (p.Ser2366Arg)
c.7002T>G (p.Ser2334Arg)
c.6972T>G (p.Ser2324Arg)
c.6897T>G (p.Ser2299Arg)
c.6795T>G (p.Ser2265Arg)
c.6426T>G (p.Ser2142Arg)
ClinVar dbSNP
5g.112842869T=CA1573469037APCc.7329T= (p.Ser2443=)
c.*7281T= (n.*7281T=)
c.7221T= (p.Ser2407=)
c.7275T= (p.Ser2425=)
c.231-13780T=
c.7305T= (p.Ser2435=)
c.7200T= (p.Ser2400=)
c.7191T= (p.Ser2397=)
c.7152T= (p.Ser2384=)
c.7098T= (p.Ser2366=)
c.7002T= (p.Ser2334=)
c.6972T= (p.Ser2324=)
c.6897T= (p.Ser2299=)
c.6795T= (p.Ser2265=)
c.6426T= (p.Ser2142=)
5g.112842870G>ACA16037174APCc.7330G>A (p.Gly2444Arg)
c.*7282G>A (n.*7282G>A)
c.7222G>A (p.Gly2408Arg)
c.7276G>A (p.Gly2426Arg)
c.231-13779G>A
c.7306G>A (p.Gly2436Arg)
c.7201G>A (p.Gly2401Arg)
c.7192G>A (p.Gly2398Arg)
c.7153G>A (p.Gly2385Arg)
c.7099G>A (p.Gly2367Arg)
c.7003G>A (p.Gly2335Arg)
c.6973G>A (p.Gly2325Arg)
c.6898G>A (p.Gly2300Arg)
c.6796G>A (p.Gly2266Arg)
c.6427G>A (p.Gly2143Arg)
ClinVar dbSNP gnomAD v4
5g.112842870G>CCA16037175APCc.7330G>C (p.Gly2444Arg)
c.*7282G>C (n.*7282G>C)
c.7222G>C (p.Gly2408Arg)
c.7276G>C (p.Gly2426Arg)
c.231-13779G>C
c.7306G>C (p.Gly2436Arg)
c.7201G>C (p.Gly2401Arg)
c.7192G>C (p.Gly2398Arg)
c.7153G>C (p.Gly2385Arg)
c.7099G>C (p.Gly2367Arg)
c.7003G>C (p.Gly2335Arg)
c.6973G>C (p.Gly2325Arg)
c.6898G>C (p.Gly2300Arg)
c.6796G>C (p.Gly2266Arg)
c.6427G>C (p.Gly2143Arg)
5g.112842870G=CA1573469045APCc.7330G= (p.Gly2444=)
c.*7282G= (n.*7282G=)
c.7222G= (p.Gly2408=)
c.7276G= (p.Gly2426=)
c.231-13779G=
c.7306G= (p.Gly2436=)
c.7201G= (p.Gly2401=)
c.7192G= (p.Gly2398=)
c.7153G= (p.Gly2385=)
c.7099G= (p.Gly2367=)
c.7003G= (p.Gly2335=)
c.6973G= (p.Gly2325=)
c.6898G= (p.Gly2300=)
c.6796G= (p.Gly2266=)
c.6427G= (p.Gly2143=)
5g.112842870G>TCA16037176APCc.7330G>T (p.Gly2444Ter)
c.*7282G>T (n.*7282G>T)
c.7222G>T (p.Gly2408Ter)
c.7276G>T (p.Gly2426Ter)
c.231-13779G>T
c.7306G>T (p.Gly2436Ter)
c.7201G>T (p.Gly2401Ter)
c.7192G>T (p.Gly2398Ter)
c.7153G>T (p.Gly2385Ter)
c.7099G>T (p.Gly2367Ter)
c.7003G>T (p.Gly2335Ter)
c.6973G>T (p.Gly2325Ter)
c.6898G>T (p.Gly2300Ter)
c.6796G>T (p.Gly2266Ter)
c.6427G>T (p.Gly2143Ter)
5g.112842871G>ACA16037177APCc.7331G>A (p.Gly2444Glu)
c.*7283G>A (n.*7283G>A)
c.7223G>A (p.Gly2408Glu)
c.7277G>A (p.Gly2426Glu)
c.231-13778G>A
c.7307G>A (p.Gly2436Glu)
c.7202G>A (p.Gly2401Glu)
c.7193G>A (p.Gly2398Glu)
c.7154G>A (p.Gly2385Glu)
c.7100G>A (p.Gly2367Glu)
c.7004G>A (p.Gly2335Glu)
c.6974G>A (p.Gly2325Glu)
c.6899G>A (p.Gly2300Glu)
c.6797G>A (p.Gly2266Glu)
c.6428G>A (p.Gly2143Glu)
dbSNP
5g.112842871G>CCA16037178APCc.7331G>C (p.Gly2444Ala)
c.*7283G>C (n.*7283G>C)
c.7223G>C (p.Gly2408Ala)
c.7277G>C (p.Gly2426Ala)
c.231-13778G>C
c.7307G>C (p.Gly2436Ala)
c.7202G>C (p.Gly2401Ala)
c.7193G>C (p.Gly2398Ala)
c.7154G>C (p.Gly2385Ala)
c.7100G>C (p.Gly2367Ala)
c.7004G>C (p.Gly2335Ala)
c.6974G>C (p.Gly2325Ala)
c.6899G>C (p.Gly2300Ala)
c.6797G>C (p.Gly2266Ala)
c.6428G>C (p.Gly2143Ala)
dbSNP
5g.112842871G>TCA16037179APCc.7331G>T (p.Gly2444Val)
c.*7283G>T (n.*7283G>T)
c.7223G>T (p.Gly2408Val)
c.7277G>T (p.Gly2426Val)
c.231-13778G>T
c.7307G>T (p.Gly2436Val)
c.7202G>T (p.Gly2401Val)
c.7193G>T (p.Gly2398Val)
c.7154G>T (p.Gly2385Val)
c.7100G>T (p.Gly2367Val)
c.7004G>T (p.Gly2335Val)
c.6974G>T (p.Gly2325Val)
c.6899G>T (p.Gly2300Val)
c.6797G>T (p.Gly2266Val)
c.6428G>T (p.Gly2143Val)
dbSNP
5g.112842872A=CA1573469052APCc.7332A= (p.Gly2444=)
c.*7284A= (n.*7284A=)
c.7224A= (p.Gly2408=)
c.7278A= (p.Gly2426=)
c.231-13777A=
c.7308A= (p.Gly2436=)
c.7203A= (p.Gly2401=)
c.7194A= (p.Gly2398=)
c.7155A= (p.Gly2385=)
c.7101A= (p.Gly2367=)
c.7005A= (p.Gly2335=)
c.6975A= (p.Gly2325=)
c.6900A= (p.Gly2300=)
c.6798A= (p.Gly2266=)
c.6429A= (p.Gly2143=)
5g.112842872A>CCA446210234APCc.7332A>C (p.Gly2444=)
c.*7284A>C (n.*7284A>C)
c.7224A>C (p.Gly2408=)
c.7278A>C (p.Gly2426=)
c.231-13777A>C
c.7308A>C (p.Gly2436=)
c.7203A>C (p.Gly2401=)
c.7194A>C (p.Gly2398=)
c.7155A>C (p.Gly2385=)
c.7101A>C (p.Gly2367=)
c.7005A>C (p.Gly2335=)
c.6975A>C (p.Gly2325=)
c.6900A>C (p.Gly2300=)
c.6798A>C (p.Gly2266=)
c.6429A>C (p.Gly2143=)
5g.112842872A>GCA047480APCc.7332A>G (p.Gly2444=)
c.*7284A>G (n.*7284A>G)
c.7224A>G (p.Gly2408=)
c.7278A>G (p.Gly2426=)
c.231-13777A>G
c.7308A>G (p.Gly2436=)
c.7203A>G (p.Gly2401=)
c.7194A>G (p.Gly2398=)
c.7155A>G (p.Gly2385=)
c.7101A>G (p.Gly2367=)
c.7005A>G (p.Gly2335=)
c.6975A>G (p.Gly2325=)
c.6900A>G (p.Gly2300=)
c.6798A>G (p.Gly2266=)
c.6429A>G (p.Gly2143=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842872A>TCA446210235APCc.7332A>T (p.Gly2444=)
c.*7284A>T (n.*7284A>T)
c.7224A>T (p.Gly2408=)
c.7278A>T (p.Gly2426=)
c.231-13777A>T
c.7308A>T (p.Gly2436=)
c.7203A>T (p.Gly2401=)
c.7194A>T (p.Gly2398=)
c.7155A>T (p.Gly2385=)
c.7101A>T (p.Gly2367=)
c.7005A>T (p.Gly2335=)
c.6975A>T (p.Gly2325=)
c.6900A>T (p.Gly2300=)
c.6798A>T (p.Gly2266=)
c.6429A>T (p.Gly2143=)
dbSNP
5g.112842873A>CCA16037180APCc.7333A>C (p.Ser2445Arg)
c.*7285A>C (n.*7285A>C)
c.7225A>C (p.Ser2409Arg)
c.7279A>C (p.Ser2427Arg)
c.231-13776A>C
c.7309A>C (p.Ser2437Arg)
c.7204A>C (p.Ser2402Arg)
c.7195A>C (p.Ser2399Arg)
c.7156A>C (p.Ser2386Arg)
c.7102A>C (p.Ser2368Arg)
c.7006A>C (p.Ser2336Arg)
c.6976A>C (p.Ser2326Arg)
c.6901A>C (p.Ser2301Arg)
c.6799A>C (p.Ser2267Arg)
c.6430A>C (p.Ser2144Arg)
gnomAD v4
5g.112842873A>GCA16037181APCc.7333A>G (p.Ser2445Gly)
c.*7285A>G (n.*7285A>G)
c.7225A>G (p.Ser2409Gly)
c.7279A>G (p.Ser2427Gly)
c.231-13776A>G
c.7309A>G (p.Ser2437Gly)
c.7204A>G (p.Ser2402Gly)
c.7195A>G (p.Ser2399Gly)
c.7156A>G (p.Ser2386Gly)
c.7102A>G (p.Ser2368Gly)
c.7006A>G (p.Ser2336Gly)
c.6976A>G (p.Ser2326Gly)
c.6901A>G (p.Ser2301Gly)
c.6799A>G (p.Ser2267Gly)
c.6430A>G (p.Ser2144Gly)
5g.112842873A>TCA16037182APCc.7333A>T (p.Ser2445Cys)
c.*7285A>T (n.*7285A>T)
c.7225A>T (p.Ser2409Cys)
c.7279A>T (p.Ser2427Cys)
c.231-13776A>T
c.7309A>T (p.Ser2437Cys)
c.7204A>T (p.Ser2402Cys)
c.7195A>T (p.Ser2399Cys)
c.7156A>T (p.Ser2386Cys)
c.7102A>T (p.Ser2368Cys)
c.7006A>T (p.Ser2336Cys)
c.6976A>T (p.Ser2326Cys)
c.6901A>T (p.Ser2301Cys)
c.6799A>T (p.Ser2267Cys)
c.6430A>T (p.Ser2144Cys)
dbSNP
5g.112842874G>ACA16037183APCc.7334G>A (p.Ser2445Asn)
c.*7286G>A (n.*7286G>A)
c.7226G>A (p.Ser2409Asn)
c.7280G>A (p.Ser2427Asn)
c.231-13775G>A
c.7310G>A (p.Ser2437Asn)
c.7205G>A (p.Ser2402Asn)
c.7196G>A (p.Ser2399Asn)
c.7157G>A (p.Ser2386Asn)
c.7103G>A (p.Ser2368Asn)
c.7007G>A (p.Ser2336Asn)
c.6977G>A (p.Ser2326Asn)
c.6902G>A (p.Ser2301Asn)
c.6800G>A (p.Ser2267Asn)
c.6431G>A (p.Ser2144Asn)
dbSNP gnomAD v2 gnomAD v4
5g.112842874G>CCA16037184APCc.7334G>C (p.Ser2445Thr)
c.*7286G>C (n.*7286G>C)
c.7226G>C (p.Ser2409Thr)
c.7280G>C (p.Ser2427Thr)
c.231-13775G>C
c.7310G>C (p.Ser2437Thr)
c.7205G>C (p.Ser2402Thr)
c.7196G>C (p.Ser2399Thr)
c.7157G>C (p.Ser2386Thr)
c.7103G>C (p.Ser2368Thr)
c.7007G>C (p.Ser2336Thr)
c.6977G>C (p.Ser2326Thr)
c.6902G>C (p.Ser2301Thr)
c.6800G>C (p.Ser2267Thr)
c.6431G>C (p.Ser2144Thr)
dbSNP
5g.112842874G=CA1573469057APCc.7334G= (p.Ser2445=)
c.*7286G= (n.*7286G=)
c.7226G= (p.Ser2409=)
c.7280G= (p.Ser2427=)
c.231-13775G=
c.7310G= (p.Ser2437=)
c.7205G= (p.Ser2402=)
c.7196G= (p.Ser2399=)
c.7157G= (p.Ser2386=)
c.7103G= (p.Ser2368=)
c.7007G= (p.Ser2336=)
c.6977G= (p.Ser2326=)
c.6902G= (p.Ser2301=)
c.6800G= (p.Ser2267=)
c.6431G= (p.Ser2144=)
5g.112842874G>TCA16037185APCc.7334G>T (p.Ser2445Ile)
c.*7286G>T (n.*7286G>T)
c.7226G>T (p.Ser2409Ile)
c.7280G>T (p.Ser2427Ile)
c.231-13775G>T
c.7310G>T (p.Ser2437Ile)
c.7205G>T (p.Ser2402Ile)
c.7196G>T (p.Ser2399Ile)
c.7157G>T (p.Ser2386Ile)
c.7103G>T (p.Ser2368Ile)
c.7007G>T (p.Ser2336Ile)
c.6977G>T (p.Ser2326Ile)
c.6902G>T (p.Ser2301Ile)
c.6800G>T (p.Ser2267Ile)
c.6431G>T (p.Ser2144Ile)
5g.112842875T>ACA16037186APCc.7335T>A (p.Ser2445Arg)
c.*7287T>A (n.*7287T>A)
c.7227T>A (p.Ser2409Arg)
c.7281T>A (p.Ser2427Arg)
c.231-13774T>A
c.7311T>A (p.Ser2437Arg)
c.7206T>A (p.Ser2402Arg)
c.7197T>A (p.Ser2399Arg)
c.7158T>A (p.Ser2386Arg)
c.7104T>A (p.Ser2368Arg)
c.7008T>A (p.Ser2336Arg)
c.6978T>A (p.Ser2326Arg)
c.6903T>A (p.Ser2301Arg)
c.6801T>A (p.Ser2267Arg)
c.6432T>A (p.Ser2144Arg)
dbSNP
5g.112842875T>CCA012990APCc.7335T>C (p.Ser2445=)
c.*7287T>C (n.*7287T>C)
c.7227T>C (p.Ser2409=)
c.7281T>C (p.Ser2427=)
c.231-13774T>C
c.7311T>C (p.Ser2437=)
c.7206T>C (p.Ser2402=)
c.7197T>C (p.Ser2399=)
c.7158T>C (p.Ser2386=)
c.7104T>C (p.Ser2368=)
c.7008T>C (p.Ser2336=)
c.6978T>C (p.Ser2326=)
c.6903T>C (p.Ser2301=)
c.6801T>C (p.Ser2267=)
c.6432T>C (p.Ser2144=)
ClinVar dbSNP gnomAD v4
5g.112842875T>GCA16037187APCc.7335T>G (p.Ser2445Arg)
c.*7287T>G (n.*7287T>G)
c.7227T>G (p.Ser2409Arg)
c.7281T>G (p.Ser2427Arg)
c.231-13774T>G
c.7311T>G (p.Ser2437Arg)
c.7206T>G (p.Ser2402Arg)
c.7197T>G (p.Ser2399Arg)
c.7158T>G (p.Ser2386Arg)
c.7104T>G (p.Ser2368Arg)
c.7008T>G (p.Ser2336Arg)
c.6978T>G (p.Ser2326Arg)
c.6903T>G (p.Ser2301Arg)
c.6801T>G (p.Ser2267Arg)
c.6432T>G (p.Ser2144Arg)
dbSNP
5g.112842875T=CA1573469065APCc.7335T= (p.Ser2445=)
c.*7287T= (n.*7287T=)
c.7227T= (p.Ser2409=)
c.7281T= (p.Ser2427=)
c.231-13774T=
c.7311T= (p.Ser2437=)
c.7206T= (p.Ser2402=)
c.7197T= (p.Ser2399=)
c.7158T= (p.Ser2386=)
c.7104T= (p.Ser2368=)
c.7008T= (p.Ser2336=)
c.6978T= (p.Ser2326=)
c.6903T= (p.Ser2301=)
c.6801T= (p.Ser2267=)
c.6432T= (p.Ser2144=)
5g.112842876G>ACA16037188APCc.7336G>A (p.Glu2446Lys)
c.*7288G>A (n.*7288G>A)
c.7228G>A (p.Glu2410Lys)
c.7282G>A (p.Glu2428Lys)
c.231-13773G>A
c.7312G>A (p.Glu2438Lys)
c.7207G>A (p.Glu2403Lys)
c.7198G>A (p.Glu2400Lys)
c.7159G>A (p.Glu2387Lys)
c.7105G>A (p.Glu2369Lys)
c.7009G>A (p.Glu2337Lys)
c.6979G>A (p.Glu2327Lys)
c.6904G>A (p.Glu2302Lys)
c.6802G>A (p.Glu2268Lys)
c.6433G>A (p.Glu2145Lys)
5g.112842876G>CCA16037189APCc.7336G>C (p.Glu2446Gln)
c.*7288G>C (n.*7288G>C)
c.7228G>C (p.Glu2410Gln)
c.7282G>C (p.Glu2428Gln)
c.231-13773G>C
c.7312G>C (p.Glu2438Gln)
c.7207G>C (p.Glu2403Gln)
c.7198G>C (p.Glu2400Gln)
c.7159G>C (p.Glu2387Gln)
c.7105G>C (p.Glu2369Gln)
c.7009G>C (p.Glu2337Gln)
c.6979G>C (p.Glu2327Gln)
c.6904G>C (p.Glu2302Gln)
c.6802G>C (p.Glu2268Gln)
c.6433G>C (p.Glu2145Gln)
ClinVar dbSNP gnomAD v4
5g.112842876G>TCA16037190APCc.7336G>T (p.Glu2446Ter)
c.*7288G>T (n.*7288G>T)
c.7228G>T (p.Glu2410Ter)
c.7282G>T (p.Glu2428Ter)
c.231-13773G>T
c.7312G>T (p.Glu2438Ter)
c.7207G>T (p.Glu2403Ter)
c.7198G>T (p.Glu2400Ter)
c.7159G>T (p.Glu2387Ter)
c.7105G>T (p.Glu2369Ter)
c.7009G>T (p.Glu2337Ter)
c.6979G>T (p.Glu2327Ter)
c.6904G>T (p.Glu2302Ter)
c.6802G>T (p.Glu2268Ter)
c.6433G>T (p.Glu2145Ter)
5g.112842877A>CCA16037191APCc.7337A>C (p.Glu2446Ala)
c.*7289A>C (n.*7289A>C)
c.7229A>C (p.Glu2410Ala)
c.7283A>C (p.Glu2428Ala)
c.231-13772A>C
c.7313A>C (p.Glu2438Ala)
c.7208A>C (p.Glu2403Ala)
c.7199A>C (p.Glu2400Ala)
c.7160A>C (p.Glu2387Ala)
c.7106A>C (p.Glu2369Ala)
c.7010A>C (p.Glu2337Ala)
c.6980A>C (p.Glu2327Ala)
c.6905A>C (p.Glu2302Ala)
c.6803A>C (p.Glu2268Ala)
c.6434A>C (p.Glu2145Ala)
5g.112842877A>GCA16037192APCc.7337A>G (p.Glu2446Gly)
c.*7289A>G (n.*7289A>G)
c.7229A>G (p.Glu2410Gly)
c.7283A>G (p.Glu2428Gly)
c.231-13772A>G
c.7313A>G (p.Glu2438Gly)
c.7208A>G (p.Glu2403Gly)
c.7199A>G (p.Glu2400Gly)
c.7160A>G (p.Glu2387Gly)
c.7106A>G (p.Glu2369Gly)
c.7010A>G (p.Glu2337Gly)
c.6980A>G (p.Glu2327Gly)
c.6905A>G (p.Glu2302Gly)
c.6803A>G (p.Glu2268Gly)
c.6434A>G (p.Glu2145Gly)
dbSNP
5g.112842877A>TCA16037193APCc.7337A>T (p.Glu2446Val)
c.*7289A>T (n.*7289A>T)
c.7229A>T (p.Glu2410Val)
c.7283A>T (p.Glu2428Val)
c.231-13772A>T
c.7313A>T (p.Glu2438Val)
c.7208A>T (p.Glu2403Val)
c.7199A>T (p.Glu2400Val)
c.7160A>T (p.Glu2387Val)
c.7106A>T (p.Glu2369Val)
c.7010A>T (p.Glu2337Val)
c.6980A>T (p.Glu2327Val)
c.6905A>T (p.Glu2302Val)
c.6803A>T (p.Glu2268Val)
c.6434A>T (p.Glu2145Val)
dbSNP
5g.112842878A=CA1573469079APCc.7338A= (p.Glu2446=)
c.*7290A= (n.*7290A=)
c.7230A= (p.Glu2410=)
c.7284A= (p.Glu2428=)
c.231-13771A=
c.7314A= (p.Glu2438=)
c.7209A= (p.Glu2403=)
c.7200A= (p.Glu2400=)
c.7161A= (p.Glu2387=)
c.7107A= (p.Glu2369=)
c.7011A= (p.Glu2337=)
c.6981A= (p.Glu2327=)
c.6906A= (p.Glu2302=)
c.6804A= (p.Glu2268=)
c.6435A= (p.Glu2145=)
5g.112842878A>CCA16037194APCc.7338A>C (p.Glu2446Asp)
c.*7290A>C (n.*7290A>C)
c.7230A>C (p.Glu2410Asp)
c.7284A>C (p.Glu2428Asp)
c.231-13771A>C
c.7314A>C (p.Glu2438Asp)
c.7209A>C (p.Glu2403Asp)
c.7200A>C (p.Glu2400Asp)
c.7161A>C (p.Glu2387Asp)
c.7107A>C (p.Glu2369Asp)
c.7011A>C (p.Glu2337Asp)
c.6981A>C (p.Glu2327Asp)
c.6906A>C (p.Glu2302Asp)
c.6804A>C (p.Glu2268Asp)
c.6435A>C (p.Glu2145Asp)
dbSNP
5g.112842878A>GCA10578441APCc.7338A>G (p.Glu2446=)
c.*7290A>G (n.*7290A>G)
c.7230A>G (p.Glu2410=)
c.7284A>G (p.Glu2428=)
c.231-13771A>G
c.7314A>G (p.Glu2438=)
c.7209A>G (p.Glu2403=)
c.7200A>G (p.Glu2400=)
c.7161A>G (p.Glu2387=)
c.7107A>G (p.Glu2369=)
c.7011A>G (p.Glu2337=)
c.6981A>G (p.Glu2327=)
c.6906A>G (p.Glu2302=)
c.6804A>G (p.Glu2268=)
c.6435A>G (p.Glu2145=)
ClinVar dbSNP gnomAD v4
5g.112842878A>TCA16037195APCc.7338A>T (p.Glu2446Asp)
c.*7290A>T (n.*7290A>T)
c.7230A>T (p.Glu2410Asp)
c.7284A>T (p.Glu2428Asp)
c.231-13771A>T
c.7314A>T (p.Glu2438Asp)
c.7209A>T (p.Glu2403Asp)
c.7200A>T (p.Glu2400Asp)
c.7161A>T (p.Glu2387Asp)
c.7107A>T (p.Glu2369Asp)
c.7011A>T (p.Glu2337Asp)
c.6981A>T (p.Glu2327Asp)
c.6906A>T (p.Glu2302Asp)
c.6804A>T (p.Glu2268Asp)
c.6435A>T (p.Glu2145Asp)
dbSNP gnomAD v4
5g.112842879T>ACA16037196APCc.7339T>A (p.Ser2447Thr)
c.*7291T>A (n.*7291T>A)
c.7231T>A (p.Ser2411Thr)
c.7285T>A (p.Ser2429Thr)
c.231-13770T>A
c.7315T>A (p.Ser2439Thr)
c.7210T>A (p.Ser2404Thr)
c.7201T>A (p.Ser2401Thr)
c.7162T>A (p.Ser2388Thr)
c.7108T>A (p.Ser2370Thr)
c.7012T>A (p.Ser2338Thr)
c.6982T>A (p.Ser2328Thr)
c.6907T>A (p.Ser2303Thr)
c.6805T>A (p.Ser2269Thr)
c.6436T>A (p.Ser2146Thr)
dbSNP
5g.112842879T>CCA047506APCc.7339T>C (p.Ser2447Pro)
c.*7291T>C (n.*7291T>C)
c.7231T>C (p.Ser2411Pro)
c.7285T>C (p.Ser2429Pro)
c.231-13770T>C
c.7315T>C (p.Ser2439Pro)
c.7210T>C (p.Ser2404Pro)
c.7201T>C (p.Ser2401Pro)
c.7162T>C (p.Ser2388Pro)
c.7108T>C (p.Ser2370Pro)
c.7012T>C (p.Ser2338Pro)
c.6982T>C (p.Ser2328Pro)
c.6907T>C (p.Ser2303Pro)
c.6805T>C (p.Ser2269Pro)
c.6436T>C (p.Ser2146Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842879T>GCA16037197APCc.7339T>G (p.Ser2447Ala)
c.*7291T>G (n.*7291T>G)
c.7231T>G (p.Ser2411Ala)
c.7285T>G (p.Ser2429Ala)
c.231-13770T>G
c.7315T>G (p.Ser2439Ala)
c.7210T>G (p.Ser2404Ala)
c.7201T>G (p.Ser2401Ala)
c.7162T>G (p.Ser2388Ala)
c.7108T>G (p.Ser2370Ala)
c.7012T>G (p.Ser2338Ala)
c.6982T>G (p.Ser2328Ala)
c.6907T>G (p.Ser2303Ala)
c.6805T>G (p.Ser2269Ala)
c.6436T>G (p.Ser2146Ala)
dbSNP
5g.112842879T=CA1573469089APCc.7339T= (p.Ser2447=)
c.*7291T= (n.*7291T=)
c.7231T= (p.Ser2411=)
c.7285T= (p.Ser2429=)
c.231-13770T=
c.7315T= (p.Ser2439=)
c.7210T= (p.Ser2404=)
c.7201T= (p.Ser2401=)
c.7162T= (p.Ser2388=)
c.7108T= (p.Ser2370=)
c.7012T= (p.Ser2338=)
c.6982T= (p.Ser2328=)
c.6907T= (p.Ser2303=)
c.6805T= (p.Ser2269=)
c.6436T= (p.Ser2146=)
5g.112842880C>ACA16037198APCc.7340C>A (p.Ser2447Tyr)
c.*7292C>A (n.*7292C>A)
c.7232C>A (p.Ser2411Tyr)
c.7286C>A (p.Ser2429Tyr)
c.231-13769C>A
c.7316C>A (p.Ser2439Tyr)
c.7211C>A (p.Ser2404Tyr)
c.7202C>A (p.Ser2401Tyr)
c.7163C>A (p.Ser2388Tyr)
c.7109C>A (p.Ser2370Tyr)
c.7013C>A (p.Ser2338Tyr)
c.6983C>A (p.Ser2328Tyr)
c.6908C>A (p.Ser2303Tyr)
c.6806C>A (p.Ser2269Tyr)
c.6437C>A (p.Ser2146Tyr)
ClinVar dbSNP
5g.112842880C=CA1573469099APCc.7340C= (p.Ser2447=)
c.*7292C= (n.*7292C=)
c.7232C= (p.Ser2411=)
c.7286C= (p.Ser2429=)
c.231-13769C=
c.7316C= (p.Ser2439=)
c.7211C= (p.Ser2404=)
c.7202C= (p.Ser2401=)
c.7163C= (p.Ser2388=)
c.7109C= (p.Ser2370=)
c.7013C= (p.Ser2338=)
c.6983C= (p.Ser2328=)
c.6908C= (p.Ser2303=)
c.6806C= (p.Ser2269=)
c.6437C= (p.Ser2146=)
5g.112842880C>GCA16037199APCc.7340C>G (p.Ser2447Cys)
c.*7292C>G (n.*7292C>G)
c.7232C>G (p.Ser2411Cys)
c.7286C>G (p.Ser2429Cys)
c.231-13769C>G
c.7316C>G (p.Ser2439Cys)
c.7211C>G (p.Ser2404Cys)
c.7202C>G (p.Ser2401Cys)
c.7163C>G (p.Ser2388Cys)
c.7109C>G (p.Ser2370Cys)
c.7013C>G (p.Ser2338Cys)
c.6983C>G (p.Ser2328Cys)
c.6908C>G (p.Ser2303Cys)
c.6806C>G (p.Ser2269Cys)
c.6437C>G (p.Ser2146Cys)
ClinVar dbSNP gnomAD v4
5g.112842880C>TCA16037200APCc.7340C>T (p.Ser2447Phe)
c.*7292C>T (n.*7292C>T)
c.7232C>T (p.Ser2411Phe)
c.7286C>T (p.Ser2429Phe)
c.231-13769C>T
c.7316C>T (p.Ser2439Phe)
c.7211C>T (p.Ser2404Phe)
c.7202C>T (p.Ser2401Phe)
c.7163C>T (p.Ser2388Phe)
c.7109C>T (p.Ser2370Phe)
c.7013C>T (p.Ser2338Phe)
c.6983C>T (p.Ser2328Phe)
c.6908C>T (p.Ser2303Phe)
c.6806C>T (p.Ser2269Phe)
c.6437C>T (p.Ser2146Phe)
dbSNP COSMIC
5g.112842881T>ACA446210236APCc.7341T>A (p.Ser2447=)
c.*7293T>A (n.*7293T>A)
c.7233T>A (p.Ser2411=)
c.7287T>A (p.Ser2429=)
c.231-13768T>A
c.7317T>A (p.Ser2439=)
c.7212T>A (p.Ser2404=)
c.7203T>A (p.Ser2401=)
c.7164T>A (p.Ser2388=)
c.7110T>A (p.Ser2370=)
c.7014T>A (p.Ser2338=)
c.6984T>A (p.Ser2328=)
c.6909T>A (p.Ser2303=)
c.6807T>A (p.Ser2269=)
c.6438T>A (p.Ser2146=)
dbSNP
5g.112842881T>CCA446210237APCc.7341T>C (p.Ser2447=)
c.*7293T>C (n.*7293T>C)
c.7233T>C (p.Ser2411=)
c.7287T>C (p.Ser2429=)
c.231-13768T>C
c.7317T>C (p.Ser2439=)
c.7212T>C (p.Ser2404=)
c.7203T>C (p.Ser2401=)
c.7164T>C (p.Ser2388=)
c.7110T>C (p.Ser2370=)
c.7014T>C (p.Ser2338=)
c.6984T>C (p.Ser2328=)
c.6909T>C (p.Ser2303=)
c.6807T>C (p.Ser2269=)
c.6438T>C (p.Ser2146=)
5g.112842881T>GCA446210238APCc.7341T>G (p.Ser2447=)
c.*7293T>G (n.*7293T>G)
c.7233T>G (p.Ser2411=)
c.7287T>G (p.Ser2429=)
c.231-13768T>G
c.7317T>G (p.Ser2439=)
c.7212T>G (p.Ser2404=)
c.7203T>G (p.Ser2401=)
c.7164T>G (p.Ser2388=)
c.7110T>G (p.Ser2370=)
c.7014T>G (p.Ser2338=)
c.6984T>G (p.Ser2328=)
c.6909T>G (p.Ser2303=)
c.6807T>G (p.Ser2269=)
c.6438T>G (p.Ser2146=)
5g.112842882G>ACA16037201APCc.7342G>A (p.Asp2448Asn)
c.*7294G>A (n.*7294G>A)
c.7234G>A (p.Asp2412Asn)
c.7288G>A (p.Asp2430Asn)
c.231-13767G>A
c.7318G>A (p.Asp2440Asn)
c.7213G>A (p.Asp2405Asn)
c.7204G>A (p.Asp2402Asn)
c.7165G>A (p.Asp2389Asn)
c.7111G>A (p.Asp2371Asn)
c.7015G>A (p.Asp2339Asn)
c.6985G>A (p.Asp2329Asn)
c.6910G>A (p.Asp2304Asn)
c.6808G>A (p.Asp2270Asn)
c.6439G>A (p.Asp2147Asn)
ClinVar dbSNP
5g.112842882G>CCA16037202APCc.7342G>C (p.Asp2448His)
c.*7294G>C (n.*7294G>C)
c.7234G>C (p.Asp2412His)
c.7288G>C (p.Asp2430His)
c.231-13767G>C
c.7318G>C (p.Asp2440His)
c.7213G>C (p.Asp2405His)
c.7204G>C (p.Asp2402His)
c.7165G>C (p.Asp2389His)
c.7111G>C (p.Asp2371His)
c.7015G>C (p.Asp2339His)
c.6985G>C (p.Asp2329His)
c.6910G>C (p.Asp2304His)
c.6808G>C (p.Asp2270His)
c.6439G>C (p.Asp2147His)
dbSNP
5g.112842882G>TCA16037203APCc.7342G>T (p.Asp2448Tyr)
c.*7294G>T (n.*7294G>T)
c.7234G>T (p.Asp2412Tyr)
c.7288G>T (p.Asp2430Tyr)
c.231-13767G>T
c.7318G>T (p.Asp2440Tyr)
c.7213G>T (p.Asp2405Tyr)
c.7204G>T (p.Asp2402Tyr)
c.7165G>T (p.Asp2389Tyr)
c.7111G>T (p.Asp2371Tyr)
c.7015G>T (p.Asp2339Tyr)
c.6985G>T (p.Asp2329Tyr)
c.6910G>T (p.Asp2304Tyr)
c.6808G>T (p.Asp2270Tyr)
c.6439G>T (p.Asp2147Tyr)
dbSNP
5g.112842885_112842888delCA2580072375APCc.7345_7348del (p.Arg2449GlnfsTer6)
c.*7297_*7300del (n.*7297_*7300del)
c.7237_7240del (p.Arg2413GlnfsTer6)
c.7291_7294del (p.Arg2431GlnfsTer6)
c.231-13764_231-13761del
c.7321_7324del (p.Arg2441GlnfsTer6)
c.7216_7219del (p.Arg2406GlnfsTer6)
c.7207_7210del (p.Arg2403GlnfsTer6)
c.7168_7171del (p.Arg2390GlnfsTer6)
c.7114_7117del (p.Arg2372GlnfsTer6)
c.7018_7021del (p.Arg2340GlnfsTer6)
c.6988_6991del (p.Arg2330GlnfsTer6)
c.6913_6916del (p.Arg2305GlnfsTer6)
c.6811_6814del (p.Arg2271GlnfsTer6)
c.6442_6445del (p.Arg2148GlnfsTer6)
ClinVar
5g.112842883A=CA1573469114APCc.7343A= (p.Asp2448=)
c.*7295A= (n.*7295A=)
c.7235A= (p.Asp2412=)
c.7289A= (p.Asp2430=)
c.231-13766A=
c.7319A= (p.Asp2440=)
c.7214A= (p.Asp2405=)
c.7205A= (p.Asp2402=)
c.7166A= (p.Asp2389=)
c.7112A= (p.Asp2371=)
c.7016A= (p.Asp2339=)
c.6986A= (p.Asp2329=)
c.6911A= (p.Asp2304=)
c.6809A= (p.Asp2270=)
c.6440A= (p.Asp2147=)
5g.112842883A>CCA16037204APCc.7343A>C (p.Asp2448Ala)
c.*7295A>C (n.*7295A>C)
c.7235A>C (p.Asp2412Ala)
c.7289A>C (p.Asp2430Ala)
c.231-13766A>C
c.7319A>C (p.Asp2440Ala)
c.7214A>C (p.Asp2405Ala)
c.7205A>C (p.Asp2402Ala)
c.7166A>C (p.Asp2389Ala)
c.7112A>C (p.Asp2371Ala)
c.7016A>C (p.Asp2339Ala)
c.6986A>C (p.Asp2329Ala)
c.6911A>C (p.Asp2304Ala)
c.6809A>C (p.Asp2270Ala)
c.6440A>C (p.Asp2147Ala)
ClinVar dbSNP
5g.112842883A>GCA16037205APCc.7343A>G (p.Asp2448Gly)
c.*7295A>G (n.*7295A>G)
c.7235A>G (p.Asp2412Gly)
c.7289A>G (p.Asp2430Gly)
c.231-13766A>G
c.7319A>G (p.Asp2440Gly)
c.7214A>G (p.Asp2405Gly)
c.7205A>G (p.Asp2402Gly)
c.7166A>G (p.Asp2389Gly)
c.7112A>G (p.Asp2371Gly)
c.7016A>G (p.Asp2339Gly)
c.6986A>G (p.Asp2329Gly)
c.6911A>G (p.Asp2304Gly)
c.6809A>G (p.Asp2270Gly)
c.6440A>G (p.Asp2147Gly)
ClinVar dbSNP gnomAD v4
5g.112842883A>TCA16037206APCc.7343A>T (p.Asp2448Val)
c.*7295A>T (n.*7295A>T)
c.7235A>T (p.Asp2412Val)
c.7289A>T (p.Asp2430Val)
c.231-13766A>T
c.7319A>T (p.Asp2440Val)
c.7214A>T (p.Asp2405Val)
c.7205A>T (p.Asp2402Val)
c.7166A>T (p.Asp2389Val)
c.7112A>T (p.Asp2371Val)
c.7016A>T (p.Asp2339Val)
c.6986A>T (p.Asp2329Val)
c.6911A>T (p.Asp2304Val)
c.6809A>T (p.Asp2270Val)
c.6440A>T (p.Asp2147Val)
dbSNP
5g.112842884T>ACA16037207APCc.7344T>A (p.Asp2448Glu)
c.*7296T>A (n.*7296T>A)
c.7236T>A (p.Asp2412Glu)
c.7290T>A (p.Asp2430Glu)
c.231-13765T>A
c.7320T>A (p.Asp2440Glu)
c.7215T>A (p.Asp2405Glu)
c.7206T>A (p.Asp2402Glu)
c.7167T>A (p.Asp2389Glu)
c.7113T>A (p.Asp2371Glu)
c.7017T>A (p.Asp2339Glu)
c.6987T>A (p.Asp2329Glu)
c.6912T>A (p.Asp2304Glu)
c.6810T>A (p.Asp2270Glu)
c.6441T>A (p.Asp2147Glu)
5g.112842884T>CCA012999APCc.7344T>C (p.Asp2448=)
c.*7296T>C (n.*7296T>C)
c.7236T>C (p.Asp2412=)
c.7290T>C (p.Asp2430=)
c.231-13765T>C
c.7320T>C (p.Asp2440=)
c.7215T>C (p.Asp2405=)
c.7206T>C (p.Asp2402=)
c.7167T>C (p.Asp2389=)
c.7113T>C (p.Asp2371=)
c.7017T>C (p.Asp2339=)
c.6987T>C (p.Asp2329=)
c.6912T>C (p.Asp2304=)
c.6810T>C (p.Asp2270=)
c.6441T>C (p.Asp2147=)
ClinVar dbSNP
5g.112842884T>GCA16037208APCc.7344T>G (p.Asp2448Glu)
c.*7296T>G (n.*7296T>G)
c.7236T>G (p.Asp2412Glu)
c.7290T>G (p.Asp2430Glu)
c.231-13765T>G
c.7320T>G (p.Asp2440Glu)
c.7215T>G (p.Asp2405Glu)
c.7206T>G (p.Asp2402Glu)
c.7167T>G (p.Asp2389Glu)
c.7113T>G (p.Asp2371Glu)
c.7017T>G (p.Asp2339Glu)
c.6987T>G (p.Asp2329Glu)
c.6912T>G (p.Asp2304Glu)
c.6810T>G (p.Asp2270Glu)
c.6441T>G (p.Asp2147Glu)
dbSNP
5g.112842884T=CA1573469136APCc.7344T= (p.Asp2448=)
c.*7296T= (n.*7296T=)
c.7236T= (p.Asp2412=)
c.7290T= (p.Asp2430=)
c.231-13765T=
c.7320T= (p.Asp2440=)
c.7215T= (p.Asp2405=)
c.7206T= (p.Asp2402=)
c.7167T= (p.Asp2389=)
c.7113T= (p.Asp2371=)
c.7017T= (p.Asp2339=)
c.6987T= (p.Asp2329=)
c.6912T= (p.Asp2304=)
c.6810T= (p.Asp2270=)
c.6441T= (p.Asp2147=)
5g.112842884_112842889delinsTAGATCCA1573469135APCc.7344_7349delinsTAGATC (p.Asp2448=)
c.*7296_*7301delinsTAGATC (n.*7296_*7301delinsTAGATC)
c.7236_7241delinsTAGATC (p.Asp2412=)
c.7290_7295delinsTAGATC (p.Asp2430=)
c.231-13765_231-13760delinsTAGATC
c.7320_7325delinsTAGATC (p.Asp2440=)
c.7215_7220delinsTAGATC (p.Asp2405=)
c.7206_7211delinsTAGATC (p.Asp2402=)
c.7167_7172delinsTAGATC (p.Asp2389=)
c.7113_7118delinsTAGATC (p.Asp2371=)
c.7017_7022delinsTAGATC (p.Asp2339=)
c.6987_6992delinsTAGATC (p.Asp2329=)
c.6912_6917delinsTAGATC (p.Asp2304=)
c.6810_6815delinsTAGATC (p.Asp2270=)
c.6441_6446delinsTAGATC (p.Asp2147=)
5g.112842885A=CA1573469167APCc.7345A= (p.Arg2449=)
c.*7297A= (n.*7297A=)
c.7237A= (p.Arg2413=)
c.7291A= (p.Arg2431=)
c.231-13764A=
c.7321A= (p.Arg2441=)
c.7216A= (p.Arg2406=)
c.7207A= (p.Arg2403=)
c.7168A= (p.Arg2390=)
c.7114A= (p.Arg2372=)
c.7018A= (p.Arg2340=)
c.6988A= (p.Arg2330=)
c.6913A= (p.Arg2305=)
c.6811A= (p.Arg2271=)
c.6442A= (p.Arg2148=)
5g.112842885A>CCA446210239APCc.7345A>C (p.Arg2449=)
c.*7297A>C (n.*7297A>C)
c.7237A>C (p.Arg2413=)
c.7291A>C (p.Arg2431=)
c.231-13764A>C
c.7321A>C (p.Arg2441=)
c.7216A>C (p.Arg2406=)
c.7207A>C (p.Arg2403=)
c.7168A>C (p.Arg2390=)
c.7114A>C (p.Arg2372=)
c.7018A>C (p.Arg2340=)
c.6988A>C (p.Arg2330=)
c.6913A>C (p.Arg2305=)
c.6811A>C (p.Arg2271=)
c.6442A>C (p.Arg2148=)
ClinVar dbSNP
5g.112842885A>GCA16037209APCc.7345A>G (p.Arg2449Gly)
c.*7297A>G (n.*7297A>G)
c.7237A>G (p.Arg2413Gly)
c.7291A>G (p.Arg2431Gly)
c.231-13764A>G
c.7321A>G (p.Arg2441Gly)
c.7216A>G (p.Arg2406Gly)
c.7207A>G (p.Arg2403Gly)
c.7168A>G (p.Arg2390Gly)
c.7114A>G (p.Arg2372Gly)
c.7018A>G (p.Arg2340Gly)
c.6988A>G (p.Arg2330Gly)
c.6913A>G (p.Arg2305Gly)
c.6811A>G (p.Arg2271Gly)
c.6442A>G (p.Arg2148Gly)
dbSNP
5g.112842885A>TCA16037210APCc.7345A>T (p.Arg2449Ter)
c.*7297A>T (n.*7297A>T)
c.7237A>T (p.Arg2413Ter)
c.7291A>T (p.Arg2431Ter)
c.231-13764A>T
c.7321A>T (p.Arg2441Ter)
c.7216A>T (p.Arg2406Ter)
c.7207A>T (p.Arg2403Ter)
c.7168A>T (p.Arg2390Ter)
c.7114A>T (p.Arg2372Ter)
c.7018A>T (p.Arg2340Ter)
c.6988A>T (p.Arg2330Ter)
c.6913A>T (p.Arg2305Ter)
c.6811A>T (p.Arg2271Ter)
c.6442A>T (p.Arg2148Ter)
dbSNP
5g.112842888_112842892delCA125167817APCc.7348_7352del (p.Ser2450LysfsTer30)
c.*7300_*7304del (n.*7300_*7304del)
c.7240_7244del (p.Ser2414LysfsTer30)
c.7294_7298del (p.Ser2432LysfsTer30)
c.231-13761_231-13757del
c.7324_7328del (p.Ser2442LysfsTer30)
c.7219_7223del (p.Ser2407LysfsTer30)
c.7210_7214del (p.Ser2404LysfsTer30)
c.7171_7175del (p.Ser2391LysfsTer30)
c.7117_7121del (p.Ser2373LysfsTer30)
c.7021_7025del (p.Ser2341LysfsTer30)
c.6991_6995del (p.Ser2331LysfsTer30)
c.6916_6920del (p.Ser2306LysfsTer30)
c.6814_6818del (p.Ser2272LysfsTer30)
c.6445_6449del (p.Ser2149LysfsTer30)
dbSNP
5g.112842886G>ACA10584265APCc.7346G>A (p.Arg2449Lys)
c.*7298G>A (n.*7298G>A)
c.7238G>A (p.Arg2413Lys)
c.7292G>A (p.Arg2431Lys)
c.231-13763G>A
c.7322G>A (p.Arg2441Lys)
c.7217G>A (p.Arg2406Lys)
c.7208G>A (p.Arg2403Lys)
c.7169G>A (p.Arg2390Lys)
c.7115G>A (p.Arg2372Lys)
c.7019G>A (p.Arg2340Lys)
c.6989G>A (p.Arg2330Lys)
c.6914G>A (p.Arg2305Lys)
c.6812G>A (p.Arg2271Lys)
c.6443G>A (p.Arg2148Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112842886G>CCA16037211APCc.7346G>C (p.Arg2449Thr)
c.*7298G>C (n.*7298G>C)
c.7238G>C (p.Arg2413Thr)
c.7292G>C (p.Arg2431Thr)
c.231-13763G>C
c.7322G>C (p.Arg2441Thr)
c.7217G>C (p.Arg2406Thr)
c.7208G>C (p.Arg2403Thr)
c.7169G>C (p.Arg2390Thr)
c.7115G>C (p.Arg2372Thr)
c.7019G>C (p.Arg2340Thr)
c.6989G>C (p.Arg2330Thr)
c.6914G>C (p.Arg2305Thr)
c.6812G>C (p.Arg2271Thr)
c.6443G>C (p.Arg2148Thr)
ClinVar dbSNP gnomAD v4
5g.112842886G=CA1573469174APCc.7346G= (p.Arg2449=)
c.*7298G= (n.*7298G=)
c.7238G= (p.Arg2413=)
c.7292G= (p.Arg2431=)
c.231-13763G=
c.7322G= (p.Arg2441=)
c.7217G= (p.Arg2406=)
c.7208G= (p.Arg2403=)
c.7169G= (p.Arg2390=)
c.7115G= (p.Arg2372=)
c.7019G= (p.Arg2340=)
c.6989G= (p.Arg2330=)
c.6914G= (p.Arg2305=)
c.6812G= (p.Arg2271=)
c.6443G= (p.Arg2148=)
5g.112842886G>TCA16037212APCc.7346G>T (p.Arg2449Ile)
c.*7298G>T (n.*7298G>T)
c.7238G>T (p.Arg2413Ile)
c.7292G>T (p.Arg2431Ile)
c.231-13763G>T
c.7322G>T (p.Arg2441Ile)
c.7217G>T (p.Arg2406Ile)
c.7208G>T (p.Arg2403Ile)
c.7169G>T (p.Arg2390Ile)
c.7115G>T (p.Arg2372Ile)
c.7019G>T (p.Arg2340Ile)
c.6989G>T (p.Arg2330Ile)
c.6914G>T (p.Arg2305Ile)
c.6812G>T (p.Arg2271Ile)
c.6443G>T (p.Arg2148Ile)
ClinVar dbSNP
5g.112842887A>CCA16037213APCc.7347A>C (p.Arg2449Ser)
c.*7299A>C (n.*7299A>C)
c.7239A>C (p.Arg2413Ser)
c.7293A>C (p.Arg2431Ser)
c.231-13762A>C
c.7323A>C (p.Arg2441Ser)
c.7218A>C (p.Arg2406Ser)
c.7209A>C (p.Arg2403Ser)
c.7170A>C (p.Arg2390Ser)
c.7116A>C (p.Arg2372Ser)
c.7020A>C (p.Arg2340Ser)
c.6990A>C (p.Arg2330Ser)
c.6915A>C (p.Arg2305Ser)
c.6813A>C (p.Arg2271Ser)
c.6444A>C (p.Arg2148Ser)
dbSNP
5g.112842887A>GCA446210240APCc.7347A>G (p.Arg2449=)
c.*7299A>G (n.*7299A>G)
c.7239A>G (p.Arg2413=)
c.7293A>G (p.Arg2431=)
c.231-13762A>G
c.7323A>G (p.Arg2441=)
c.7218A>G (p.Arg2406=)
c.7209A>G (p.Arg2403=)
c.7170A>G (p.Arg2390=)
c.7116A>G (p.Arg2372=)
c.7020A>G (p.Arg2340=)
c.6990A>G (p.Arg2330=)
c.6915A>G (p.Arg2305=)
c.6813A>G (p.Arg2271=)
c.6444A>G (p.Arg2148=)
dbSNP gnomAD v4
5g.112842887A>TCA16037214APCc.7347A>T (p.Arg2449Ser)
c.*7299A>T (n.*7299A>T)
c.7239A>T (p.Arg2413Ser)
c.7293A>T (p.Arg2431Ser)
c.231-13762A>T
c.7323A>T (p.Arg2441Ser)
c.7218A>T (p.Arg2406Ser)
c.7209A>T (p.Arg2403Ser)
c.7170A>T (p.Arg2390Ser)
c.7116A>T (p.Arg2372Ser)
c.7020A>T (p.Arg2340Ser)
c.6990A>T (p.Arg2330Ser)
c.6915A>T (p.Arg2305Ser)
c.6813A>T (p.Arg2271Ser)
c.6444A>T (p.Arg2148Ser)
dbSNP
5g.112842888T>ACA16037215APCc.7348T>A (p.Ser2450Thr)
c.*7300T>A (n.*7300T>A)
c.7240T>A (p.Ser2414Thr)
c.7294T>A (p.Ser2432Thr)
c.231-13761T>A
c.7324T>A (p.Ser2442Thr)
c.7219T>A (p.Ser2407Thr)
c.7210T>A (p.Ser2404Thr)
c.7171T>A (p.Ser2391Thr)
c.7117T>A (p.Ser2373Thr)
c.7021T>A (p.Ser2341Thr)
c.6991T>A (p.Ser2331Thr)
c.6916T>A (p.Ser2306Thr)
c.6814T>A (p.Ser2272Thr)
c.6445T>A (p.Ser2149Thr)
dbSNP
5g.112842888T>CCA16037216APCc.7348T>C (p.Ser2450Pro)
c.*7300T>C (n.*7300T>C)
c.7240T>C (p.Ser2414Pro)
c.7294T>C (p.Ser2432Pro)
c.231-13761T>C
c.7324T>C (p.Ser2442Pro)
c.7219T>C (p.Ser2407Pro)
c.7210T>C (p.Ser2404Pro)
c.7171T>C (p.Ser2391Pro)
c.7117T>C (p.Ser2373Pro)
c.7021T>C (p.Ser2341Pro)
c.6991T>C (p.Ser2331Pro)
c.6916T>C (p.Ser2306Pro)
c.6814T>C (p.Ser2272Pro)
c.6445T>C (p.Ser2149Pro)
5g.112842888T>GCA16037217APCc.7348T>G (p.Ser2450Ala)
c.*7300T>G (n.*7300T>G)
c.7240T>G (p.Ser2414Ala)
c.7294T>G (p.Ser2432Ala)
c.231-13761T>G
c.7324T>G (p.Ser2442Ala)
c.7219T>G (p.Ser2407Ala)
c.7210T>G (p.Ser2404Ala)
c.7171T>G (p.Ser2391Ala)
c.7117T>G (p.Ser2373Ala)
c.7021T>G (p.Ser2341Ala)
c.6991T>G (p.Ser2331Ala)
c.6916T>G (p.Ser2306Ala)
c.6814T>G (p.Ser2272Ala)
c.6445T>G (p.Ser2149Ala)
dbSNP
5g.112842889delCA2573138703APCc.7349del (p.Ser2450Ter)
c.*7301del (n.*7301del)
c.7241del (p.Ser2414Ter)
c.7295del (p.Ser2432Ter)
c.231-13760del
c.7325del (p.Ser2442Ter)
c.7220del (p.Ser2407Ter)
c.7211del (p.Ser2404Ter)
c.7172del (p.Ser2391Ter)
c.7118del (p.Ser2373Ter)
c.7022del (p.Ser2341Ter)
c.6992del (p.Ser2331Ter)
c.6917del (p.Ser2306Ter)
c.6815del (p.Ser2272Ter)
c.6446del (p.Ser2149Ter)
ClinVar dbSNP
5g.112842889C>ACA16037218APCc.7349C>A (p.Ser2450Ter)
c.*7301C>A (n.*7301C>A)
c.7241C>A (p.Ser2414Ter)
c.7295C>A (p.Ser2432Ter)
c.231-13760C>A
c.7325C>A (p.Ser2442Ter)
c.7220C>A (p.Ser2407Ter)
c.7211C>A (p.Ser2404Ter)
c.7172C>A (p.Ser2391Ter)
c.7118C>A (p.Ser2373Ter)
c.7022C>A (p.Ser2341Ter)
c.6992C>A (p.Ser2331Ter)
c.6917C>A (p.Ser2306Ter)
c.6815C>A (p.Ser2272Ter)
c.6446C>A (p.Ser2149Ter)
dbSNP
5g.112842889C=CA1573469180APCc.7349C= (p.Ser2450=)
c.*7301C= (n.*7301C=)
c.7241C= (p.Ser2414=)
c.7295C= (p.Ser2432=)
c.231-13760C=
c.7325C= (p.Ser2442=)
c.7220C= (p.Ser2407=)
c.7211C= (p.Ser2404=)
c.7172C= (p.Ser2391=)
c.7118C= (p.Ser2373=)
c.7022C= (p.Ser2341=)
c.6992C= (p.Ser2331=)
c.6917C= (p.Ser2306=)
c.6815C= (p.Ser2272=)
c.6446C= (p.Ser2149=)
5g.112842889C>GCA16037219APCc.7349C>G (p.Ser2450Ter)
c.*7301C>G (n.*7301C>G)
c.7241C>G (p.Ser2414Ter)
c.7295C>G (p.Ser2432Ter)
c.231-13760C>G
c.7325C>G (p.Ser2442Ter)
c.7220C>G (p.Ser2407Ter)
c.7211C>G (p.Ser2404Ter)
c.7172C>G (p.Ser2391Ter)
c.7118C>G (p.Ser2373Ter)
c.7022C>G (p.Ser2341Ter)
c.6992C>G (p.Ser2331Ter)
c.6917C>G (p.Ser2306Ter)
c.6815C>G (p.Ser2272Ter)
c.6446C>G (p.Ser2149Ter)
ClinVar dbSNP
5g.112842889C>TCA16037220APCc.7349C>T (p.Ser2450Leu)
c.*7301C>T (n.*7301C>T)
c.7241C>T (p.Ser2414Leu)
c.7295C>T (p.Ser2432Leu)
c.231-13760C>T
c.7325C>T (p.Ser2442Leu)
c.7220C>T (p.Ser2407Leu)
c.7211C>T (p.Ser2404Leu)
c.7172C>T (p.Ser2391Leu)
c.7118C>T (p.Ser2373Leu)
c.7022C>T (p.Ser2341Leu)
c.6992C>T (p.Ser2331Leu)
c.6917C>T (p.Ser2306Leu)
c.6815C>T (p.Ser2272Leu)
c.6446C>T (p.Ser2149Leu)
ClinVar dbSNP
5g.112842890A>CCA446210241APCc.7350A>C (p.Ser2450=)
c.*7302A>C (n.*7302A>C)
c.7242A>C (p.Ser2414=)
c.7296A>C (p.Ser2432=)
c.231-13759A>C
c.7326A>C (p.Ser2442=)
c.7221A>C (p.Ser2407=)
c.7212A>C (p.Ser2404=)
c.7173A>C (p.Ser2391=)
c.7119A>C (p.Ser2373=)
c.7023A>C (p.Ser2341=)
c.6993A>C (p.Ser2331=)
c.6918A>C (p.Ser2306=)
c.6816A>C (p.Ser2272=)
c.6447A>C (p.Ser2149=)
5g.112842890A>GCA446210242APCc.7350A>G (p.Ser2450=)
c.*7302A>G (n.*7302A>G)
c.7242A>G (p.Ser2414=)
c.7296A>G (p.Ser2432=)
c.231-13759A>G
c.7326A>G (p.Ser2442=)
c.7221A>G (p.Ser2407=)
c.7212A>G (p.Ser2404=)
c.7173A>G (p.Ser2391=)
c.7119A>G (p.Ser2373=)
c.7023A>G (p.Ser2341=)
c.6993A>G (p.Ser2331=)
c.6918A>G (p.Ser2306=)
c.6816A>G (p.Ser2272=)
c.6447A>G (p.Ser2149=)
ClinVar dbSNP
5g.112842890A>TCA446210243APCc.7350A>T (p.Ser2450=)
c.*7302A>T (n.*7302A>T)
c.7242A>T (p.Ser2414=)
c.7296A>T (p.Ser2432=)
c.231-13759A>T
c.7326A>T (p.Ser2442=)
c.7221A>T (p.Ser2407=)
c.7212A>T (p.Ser2404=)
c.7173A>T (p.Ser2391=)
c.7119A>T (p.Ser2373=)
c.7023A>T (p.Ser2341=)
c.6993A>T (p.Ser2331=)
c.6918A>T (p.Ser2306=)
c.6816A>T (p.Ser2272=)
c.6447A>T (p.Ser2149=)
dbSNP
5g.112842891G>ACA16037221APCc.7351G>A (p.Glu2451Lys)
c.*7303G>A (n.*7303G>A)
c.7243G>A (p.Glu2415Lys)
c.7297G>A (p.Glu2433Lys)
c.231-13758G>A
c.7327G>A (p.Glu2443Lys)
c.7222G>A (p.Glu2408Lys)
c.7213G>A (p.Glu2405Lys)
c.7174G>A (p.Glu2392Lys)
c.7120G>A (p.Glu2374Lys)
c.7024G>A (p.Glu2342Lys)
c.6994G>A (p.Glu2332Lys)
c.6919G>A (p.Glu2307Lys)
c.6817G>A (p.Glu2273Lys)
c.6448G>A (p.Glu2150Lys)
ClinVar dbSNP gnomAD v4
5g.112842891G>CCA16037222APCc.7351G>C (p.Glu2451Gln)
c.*7303G>C (n.*7303G>C)
c.7243G>C (p.Glu2415Gln)
c.7297G>C (p.Glu2433Gln)
c.231-13758G>C
c.7327G>C (p.Glu2443Gln)
c.7222G>C (p.Glu2408Gln)
c.7213G>C (p.Glu2405Gln)
c.7174G>C (p.Glu2392Gln)
c.7120G>C (p.Glu2374Gln)
c.7024G>C (p.Glu2342Gln)
c.6994G>C (p.Glu2332Gln)
c.6919G>C (p.Glu2307Gln)
c.6817G>C (p.Glu2273Gln)
c.6448G>C (p.Glu2150Gln)
5g.112842891G=CA1573469187APCc.7351G= (p.Glu2451=)
c.*7303G= (n.*7303G=)
c.7243G= (p.Glu2415=)
c.7297G= (p.Glu2433=)
c.231-13758G=
c.7327G= (p.Glu2443=)
c.7222G= (p.Glu2408=)
c.7213G= (p.Glu2405=)
c.7174G= (p.Glu2392=)
c.7120G= (p.Glu2374=)
c.7024G= (p.Glu2342=)
c.6994G= (p.Glu2332=)
c.6919G= (p.Glu2307=)
c.6817G= (p.Glu2273=)
c.6448G= (p.Glu2150=)
5g.112842891G>TCA16037223APCc.7351G>T (p.Glu2451Ter)
c.*7303G>T (n.*7303G>T)
c.7243G>T (p.Glu2415Ter)
c.7297G>T (p.Glu2433Ter)
c.231-13758G>T
c.7327G>T (p.Glu2443Ter)
c.7222G>T (p.Glu2408Ter)
c.7213G>T (p.Glu2405Ter)
c.7174G>T (p.Glu2392Ter)
c.7120G>T (p.Glu2374Ter)
c.7024G>T (p.Glu2342Ter)
c.6994G>T (p.Glu2332Ter)
c.6919G>T (p.Glu2307Ter)
c.6817G>T (p.Glu2273Ter)
c.6448G>T (p.Glu2150Ter)
5g.112842892A=CA1573469194APCc.7352A= (p.Glu2451=)
c.*7304A= (n.*7304A=)
c.7244A= (p.Glu2415=)
c.7298A= (p.Glu2433=)
c.231-13757A=
c.7328A= (p.Glu2443=)
c.7223A= (p.Glu2408=)
c.7214A= (p.Glu2405=)
c.7175A= (p.Glu2392=)
c.7121A= (p.Glu2374=)
c.7025A= (p.Glu2342=)
c.6995A= (p.Glu2332=)
c.6920A= (p.Glu2307=)
c.6818A= (p.Glu2273=)
c.6449A= (p.Glu2150=)
5g.112842892A>CCA16037224APCc.7352A>C (p.Glu2451Ala)
c.*7304A>C (n.*7304A>C)
c.7244A>C (p.Glu2415Ala)
c.7298A>C (p.Glu2433Ala)
c.231-13757A>C
c.7328A>C (p.Glu2443Ala)
c.7223A>C (p.Glu2408Ala)
c.7214A>C (p.Glu2405Ala)
c.7175A>C (p.Glu2392Ala)
c.7121A>C (p.Glu2374Ala)
c.7025A>C (p.Glu2342Ala)
c.6995A>C (p.Glu2332Ala)
c.6920A>C (p.Glu2307Ala)
c.6818A>C (p.Glu2273Ala)
c.6449A>C (p.Glu2150Ala)
5g.112842892A>GCA013246APCc.7352A>G (p.Glu2451Gly)
c.*7304A>G (n.*7304A>G)
c.7244A>G (p.Glu2415Gly)
c.7298A>G (p.Glu2433Gly)
c.231-13757A>G
c.7328A>G (p.Glu2443Gly)
c.7223A>G (p.Glu2408Gly)
c.7214A>G (p.Glu2405Gly)
c.7175A>G (p.Glu2392Gly)
c.7121A>G (p.Glu2374Gly)
c.7025A>G (p.Glu2342Gly)
c.6995A>G (p.Glu2332Gly)
c.6920A>G (p.Glu2307Gly)
c.6818A>G (p.Glu2273Gly)
c.6449A>G (p.Glu2150Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842892A>TCA16037225APCc.7352A>T (p.Glu2451Val)
c.*7304A>T (n.*7304A>T)
c.7244A>T (p.Glu2415Val)
c.7298A>T (p.Glu2433Val)
c.231-13757A>T
c.7328A>T (p.Glu2443Val)
c.7223A>T (p.Glu2408Val)
c.7214A>T (p.Glu2405Val)
c.7175A>T (p.Glu2392Val)
c.7121A>T (p.Glu2374Val)
c.7025A>T (p.Glu2342Val)
c.6995A>T (p.Glu2332Val)
c.6920A>T (p.Glu2307Val)
c.6818A>T (p.Glu2273Val)
c.6449A>T (p.Glu2150Val)
dbSNP
5g.112842894delCA2582341623APCc.7354del (p.Arg2452AspfsTer4)
c.*7306del (n.*7306del)
c.7246del (p.Arg2416AspfsTer4)
c.7300del (p.Arg2434AspfsTer4)
c.231-13755del
c.7330del (p.Arg2444AspfsTer4)
c.7225del (p.Arg2409AspfsTer4)
c.7216del (p.Arg2406AspfsTer4)
c.7177del (p.Arg2393AspfsTer4)
c.7123del (p.Arg2375AspfsTer4)
c.7027del (p.Arg2343AspfsTer4)
c.6997del (p.Arg2333AspfsTer4)
c.6922del (p.Arg2308AspfsTer4)
c.6820del (p.Arg2274AspfsTer4)
c.6451del (p.Arg2151AspfsTer4)
ClinVar
5g.112842893A>CCA16037226APCc.7353A>C (p.Glu2451Asp)
c.*7305A>C (n.*7305A>C)
c.7245A>C (p.Glu2415Asp)
c.7299A>C (p.Glu2433Asp)
c.231-13756A>C
c.7329A>C (p.Glu2443Asp)
c.7224A>C (p.Glu2408Asp)
c.7215A>C (p.Glu2405Asp)
c.7176A>C (p.Glu2392Asp)
c.7122A>C (p.Glu2374Asp)
c.7026A>C (p.Glu2342Asp)
c.6996A>C (p.Glu2332Asp)
c.6921A>C (p.Glu2307Asp)
c.6819A>C (p.Glu2273Asp)
c.6450A>C (p.Glu2150Asp)
dbSNP
5g.112842893A>GCA446210244APCc.7353A>G (p.Glu2451=)
c.*7305A>G (n.*7305A>G)
c.7245A>G (p.Glu2415=)
c.7299A>G (p.Glu2433=)
c.231-13756A>G
c.7329A>G (p.Glu2443=)
c.7224A>G (p.Glu2408=)
c.7215A>G (p.Glu2405=)
c.7176A>G (p.Glu2392=)
c.7122A>G (p.Glu2374=)
c.7026A>G (p.Glu2342=)
c.6996A>G (p.Glu2332=)
c.6921A>G (p.Glu2307=)
c.6819A>G (p.Glu2273=)
c.6450A>G (p.Glu2150=)
ClinVar dbSNP
5g.112842893A>TCA16037227APCc.7353A>T (p.Glu2451Asp)
c.*7305A>T (n.*7305A>T)
c.7245A>T (p.Glu2415Asp)
c.7299A>T (p.Glu2433Asp)
c.231-13756A>T
c.7329A>T (p.Glu2443Asp)
c.7224A>T (p.Glu2408Asp)
c.7215A>T (p.Glu2405Asp)
c.7176A>T (p.Glu2392Asp)
c.7122A>T (p.Glu2374Asp)
c.7026A>T (p.Glu2342Asp)
c.6996A>T (p.Glu2332Asp)
c.6921A>T (p.Glu2307Asp)
c.6819A>T (p.Glu2273Asp)
c.6450A>T (p.Glu2150Asp)
dbSNP
5g.112842894A=CA1573469200APCc.7354A= (p.Arg2452=)
c.*7306A= (n.*7306A=)
c.7246A= (p.Arg2416=)
c.7300A= (p.Arg2434=)
c.231-13755A=
c.7330A= (p.Arg2444=)
c.7225A= (p.Arg2409=)
c.7216A= (p.Arg2406=)
c.7177A= (p.Arg2393=)
c.7123A= (p.Arg2375=)
c.7027A= (p.Arg2343=)
c.6997A= (p.Arg2333=)
c.6922A= (p.Arg2308=)
c.6820A= (p.Arg2274=)
c.6451A= (p.Arg2151=)
5g.112842894A>CCA446210245APCc.7354A>C (p.Arg2452=)
c.*7306A>C (n.*7306A>C)
c.7246A>C (p.Arg2416=)
c.7300A>C (p.Arg2434=)
c.231-13755A>C
c.7330A>C (p.Arg2444=)
c.7225A>C (p.Arg2409=)
c.7216A>C (p.Arg2406=)
c.7177A>C (p.Arg2393=)
c.7123A>C (p.Arg2375=)
c.7027A>C (p.Arg2343=)
c.6997A>C (p.Arg2333=)
c.6922A>C (p.Arg2308=)
c.6820A>C (p.Arg2274=)
c.6451A>C (p.Arg2151=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842894A>GCA16037228APCc.7354A>G (p.Arg2452Gly)
c.*7306A>G (n.*7306A>G)
c.7246A>G (p.Arg2416Gly)
c.7300A>G (p.Arg2434Gly)
c.231-13755A>G
c.7330A>G (p.Arg2444Gly)
c.7225A>G (p.Arg2409Gly)
c.7216A>G (p.Arg2406Gly)
c.7177A>G (p.Arg2393Gly)
c.7123A>G (p.Arg2375Gly)
c.7027A>G (p.Arg2343Gly)
c.6997A>G (p.Arg2333Gly)
c.6922A>G (p.Arg2308Gly)
c.6820A>G (p.Arg2274Gly)
c.6451A>G (p.Arg2151Gly)
dbSNP
5g.112842894A>TCA16037229APCc.7354A>T (p.Arg2452Ter)
c.*7306A>T (n.*7306A>T)
c.7246A>T (p.Arg2416Ter)
c.7300A>T (p.Arg2434Ter)
c.231-13755A>T
c.7330A>T (p.Arg2444Ter)
c.7225A>T (p.Arg2409Ter)
c.7216A>T (p.Arg2406Ter)
c.7177A>T (p.Arg2393Ter)
c.7123A>T (p.Arg2375Ter)
c.7027A>T (p.Arg2343Ter)
c.6997A>T (p.Arg2333Ter)
c.6922A>T (p.Arg2308Ter)
c.6820A>T (p.Arg2274Ter)
c.6451A>T (p.Arg2151Ter)
5g.112842895G>ACA16037230APCc.7355G>A (p.Arg2452Lys)
c.*7307G>A (n.*7307G>A)
c.7247G>A (p.Arg2416Lys)
c.7301G>A (p.Arg2434Lys)
c.231-13754G>A
c.7331G>A (p.Arg2444Lys)
c.7226G>A (p.Arg2409Lys)
c.7217G>A (p.Arg2406Lys)
c.7178G>A (p.Arg2393Lys)
c.7124G>A (p.Arg2375Lys)
c.7028G>A (p.Arg2343Lys)
c.6998G>A (p.Arg2333Lys)
c.6923G>A (p.Arg2308Lys)
c.6821G>A (p.Arg2274Lys)
c.6452G>A (p.Arg2151Lys)
ClinVar dbSNP gnomAD v4
5g.112842895G>CCA16037231APCc.7355G>C (p.Arg2452Thr)
c.*7307G>C (n.*7307G>C)
c.7247G>C (p.Arg2416Thr)
c.7301G>C (p.Arg2434Thr)
c.231-13754G>C
c.7331G>C (p.Arg2444Thr)
c.7226G>C (p.Arg2409Thr)
c.7217G>C (p.Arg2406Thr)
c.7178G>C (p.Arg2393Thr)
c.7124G>C (p.Arg2375Thr)
c.7028G>C (p.Arg2343Thr)
c.6998G>C (p.Arg2333Thr)
c.6923G>C (p.Arg2308Thr)
c.6821G>C (p.Arg2274Thr)
c.6452G>C (p.Arg2151Thr)
dbSNP
5g.112842895G>TCA16037232APCc.7355G>T (p.Arg2452Ile)
c.*7307G>T (n.*7307G>T)
c.7247G>T (p.Arg2416Ile)
c.7301G>T (p.Arg2434Ile)
c.231-13754G>T
c.7331G>T (p.Arg2444Ile)
c.7226G>T (p.Arg2409Ile)
c.7217G>T (p.Arg2406Ile)
c.7178G>T (p.Arg2393Ile)
c.7124G>T (p.Arg2375Ile)
c.7028G>T (p.Arg2343Ile)
c.6998G>T (p.Arg2333Ile)
c.6923G>T (p.Arg2308Ile)
c.6821G>T (p.Arg2274Ile)
c.6452G>T (p.Arg2151Ile)
dbSNP COSMIC
5g.112842896A=CA1573469209APCc.7356A= (p.Arg2452=)
c.*7308A= (n.*7308A=)
c.7248A= (p.Arg2416=)
c.7302A= (p.Arg2434=)
c.231-13753A=
c.7332A= (p.Arg2444=)
c.7227A= (p.Arg2409=)
c.7218A= (p.Arg2406=)
c.7179A= (p.Arg2393=)
c.7125A= (p.Arg2375=)
c.7029A= (p.Arg2343=)
c.6999A= (p.Arg2333=)
c.6924A= (p.Arg2308=)
c.6822A= (p.Arg2274=)
c.6453A= (p.Arg2151=)
5g.112842896A>CCA16037233APCc.7356A>C (p.Arg2452Ser)
c.*7308A>C (n.*7308A>C)
c.7248A>C (p.Arg2416Ser)
c.7302A>C (p.Arg2434Ser)
c.231-13753A>C
c.7332A>C (p.Arg2444Ser)
c.7227A>C (p.Arg2409Ser)
c.7218A>C (p.Arg2406Ser)
c.7179A>C (p.Arg2393Ser)
c.7125A>C (p.Arg2375Ser)
c.7029A>C (p.Arg2343Ser)
c.6999A>C (p.Arg2333Ser)
c.6924A>C (p.Arg2308Ser)
c.6822A>C (p.Arg2274Ser)
c.6453A>C (p.Arg2151Ser)
dbSNP
5g.112842896A>GCA446210246APCc.7356A>G (p.Arg2452=)
c.*7308A>G (n.*7308A>G)
c.7248A>G (p.Arg2416=)
c.7302A>G (p.Arg2434=)
c.231-13753A>G
c.7332A>G (p.Arg2444=)
c.7227A>G (p.Arg2409=)
c.7218A>G (p.Arg2406=)
c.7179A>G (p.Arg2393=)
c.7125A>G (p.Arg2375=)
c.7029A>G (p.Arg2343=)
c.6999A>G (p.Arg2333=)
c.6924A>G (p.Arg2308=)
c.6822A>G (p.Arg2274=)
c.6453A>G (p.Arg2151=)
ClinVar dbSNP
5g.112842896A>TCA16037234APCc.7356A>T (p.Arg2452Ser)
c.*7308A>T (n.*7308A>T)
c.7248A>T (p.Arg2416Ser)
c.7302A>T (p.Arg2434Ser)
c.231-13753A>T
c.7332A>T (p.Arg2444Ser)
c.7227A>T (p.Arg2409Ser)
c.7218A>T (p.Arg2406Ser)
c.7179A>T (p.Arg2393Ser)
c.7125A>T (p.Arg2375Ser)
c.7029A>T (p.Arg2343Ser)
c.6999A>T (p.Arg2333Ser)
c.6924A>T (p.Arg2308Ser)
c.6822A>T (p.Arg2274Ser)
c.6453A>T (p.Arg2151Ser)
dbSNP
5g.112842897C>ACA16037235APCc.7357C>A (p.Pro2453Thr)
c.*7309C>A (n.*7309C>A)
c.7249C>A (p.Pro2417Thr)
c.7303C>A (p.Pro2435Thr)
c.231-13752C>A
c.7333C>A (p.Pro2445Thr)
c.7228C>A (p.Pro2410Thr)
c.7219C>A (p.Pro2407Thr)
c.7180C>A (p.Pro2394Thr)
c.7126C>A (p.Pro2376Thr)
c.7030C>A (p.Pro2344Thr)
c.7000C>A (p.Pro2334Thr)
c.6925C>A (p.Pro2309Thr)
c.6823C>A (p.Pro2275Thr)
c.6454C>A (p.Pro2152Thr)
dbSNP
5g.112842897C=CA1573469215APCc.7357C= (p.Pro2453=)
c.*7309C= (n.*7309C=)
c.7249C= (p.Pro2417=)
c.7303C= (p.Pro2435=)
c.231-13752C=
c.7333C= (p.Pro2445=)
c.7228C= (p.Pro2410=)
c.7219C= (p.Pro2407=)
c.7180C= (p.Pro2394=)
c.7126C= (p.Pro2376=)
c.7030C= (p.Pro2344=)
c.7000C= (p.Pro2334=)
c.6925C= (p.Pro2309=)
c.6823C= (p.Pro2275=)
c.6454C= (p.Pro2152=)
5g.112842897C>GCA16037236APCc.7357C>G (p.Pro2453Ala)
c.*7309C>G (n.*7309C>G)
c.7249C>G (p.Pro2417Ala)
c.7303C>G (p.Pro2435Ala)
c.231-13752C>G
c.7333C>G (p.Pro2445Ala)
c.7228C>G (p.Pro2410Ala)
c.7219C>G (p.Pro2407Ala)
c.7180C>G (p.Pro2394Ala)
c.7126C>G (p.Pro2376Ala)
c.7030C>G (p.Pro2344Ala)
c.7000C>G (p.Pro2334Ala)
c.6925C>G (p.Pro2309Ala)
c.6823C>G (p.Pro2275Ala)
c.6454C>G (p.Pro2152Ala)
ClinVar dbSNP
5g.112842897C>TCA16037237APCc.7357C>T (p.Pro2453Ser)
c.*7309C>T (n.*7309C>T)
c.7249C>T (p.Pro2417Ser)
c.7303C>T (p.Pro2435Ser)
c.231-13752C>T
c.7333C>T (p.Pro2445Ser)
c.7228C>T (p.Pro2410Ser)
c.7219C>T (p.Pro2407Ser)
c.7180C>T (p.Pro2394Ser)
c.7126C>T (p.Pro2376Ser)
c.7030C>T (p.Pro2344Ser)
c.7000C>T (p.Pro2334Ser)
c.6925C>T (p.Pro2309Ser)
c.6823C>T (p.Pro2275Ser)
c.6454C>T (p.Pro2152Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842898C>ACA16037238APCc.7358C>A (p.Pro2453His)
c.*7310C>A (n.*7310C>A)
c.7250C>A (p.Pro2417His)
c.7304C>A (p.Pro2435His)
c.231-13751C>A
c.7334C>A (p.Pro2445His)
c.7229C>A (p.Pro2410His)
c.7220C>A (p.Pro2407His)
c.7181C>A (p.Pro2394His)
c.7127C>A (p.Pro2376His)
c.7031C>A (p.Pro2344His)
c.7001C>A (p.Pro2334His)
c.6926C>A (p.Pro2309His)
c.6824C>A (p.Pro2275His)
c.6455C>A (p.Pro2152His)
dbSNP
5g.112842898C>GCA16037239APCc.7358C>G (p.Pro2453Arg)
c.*7310C>G (n.*7310C>G)
c.7250C>G (p.Pro2417Arg)
c.7304C>G (p.Pro2435Arg)
c.231-13751C>G
c.7334C>G (p.Pro2445Arg)
c.7229C>G (p.Pro2410Arg)
c.7220C>G (p.Pro2407Arg)
c.7181C>G (p.Pro2394Arg)
c.7127C>G (p.Pro2376Arg)
c.7031C>G (p.Pro2344Arg)
c.7001C>G (p.Pro2334Arg)
c.6926C>G (p.Pro2309Arg)
c.6824C>G (p.Pro2275Arg)
c.6455C>G (p.Pro2152Arg)
dbSNP
5g.112842898C>TCA16037240APCc.7358C>T (p.Pro2453Leu)
c.*7310C>T (n.*7310C>T)
c.7250C>T (p.Pro2417Leu)
c.7304C>T (p.Pro2435Leu)
c.231-13751C>T
c.7334C>T (p.Pro2445Leu)
c.7229C>T (p.Pro2410Leu)
c.7220C>T (p.Pro2407Leu)
c.7181C>T (p.Pro2394Leu)
c.7127C>T (p.Pro2376Leu)
c.7031C>T (p.Pro2344Leu)
c.7001C>T (p.Pro2334Leu)
c.6926C>T (p.Pro2309Leu)
c.6824C>T (p.Pro2275Leu)
c.6455C>T (p.Pro2152Leu)
dbSNP
5g.112842899T>ACA446210247APCc.7359T>A (p.Pro2453=)
c.*7311T>A (n.*7311T>A)
c.7251T>A (p.Pro2417=)
c.7305T>A (p.Pro2435=)
c.231-13750T>A
c.7335T>A (p.Pro2445=)
c.7230T>A (p.Pro2410=)
c.7221T>A (p.Pro2407=)
c.7182T>A (p.Pro2394=)
c.7128T>A (p.Pro2376=)
c.7032T>A (p.Pro2344=)
c.7002T>A (p.Pro2334=)
c.6927T>A (p.Pro2309=)
c.6825T>A (p.Pro2275=)
c.6456T>A (p.Pro2152=)
ClinVar dbSNP
5g.112842899T>CCA446210248APCc.7359T>C (p.Pro2453=)
c.*7311T>C (n.*7311T>C)
c.7251T>C (p.Pro2417=)
c.7305T>C (p.Pro2435=)
c.231-13750T>C
c.7335T>C (p.Pro2445=)
c.7230T>C (p.Pro2410=)
c.7221T>C (p.Pro2407=)
c.7182T>C (p.Pro2394=)
c.7128T>C (p.Pro2376=)
c.7032T>C (p.Pro2344=)
c.7002T>C (p.Pro2334=)
c.6927T>C (p.Pro2309=)
c.6825T>C (p.Pro2275=)
c.6456T>C (p.Pro2152=)
dbSNP
5g.112842899T>GCA446210249APCc.7359T>G (p.Pro2453=)
c.*7311T>G (n.*7311T>G)
c.7251T>G (p.Pro2417=)
c.7305T>G (p.Pro2435=)
c.231-13750T>G
c.7335T>G (p.Pro2445=)
c.7230T>G (p.Pro2410=)
c.7221T>G (p.Pro2407=)
c.7182T>G (p.Pro2394=)
c.7128T>G (p.Pro2376=)
c.7032T>G (p.Pro2344=)
c.7002T>G (p.Pro2334=)
c.6927T>G (p.Pro2309=)
c.6825T>G (p.Pro2275=)
c.6456T>G (p.Pro2152=)
5g.112842899T=CA1573469236APCc.7359T= (p.Pro2453=)
c.*7311T= (n.*7311T=)
c.7251T= (p.Pro2417=)
c.7305T= (p.Pro2435=)
c.231-13750T=
c.7335T= (p.Pro2445=)
c.7230T= (p.Pro2410=)
c.7221T= (p.Pro2407=)
c.7182T= (p.Pro2394=)
c.7128T= (p.Pro2376=)
c.7032T= (p.Pro2344=)
c.7002T= (p.Pro2334=)
c.6927T= (p.Pro2309=)
c.6825T= (p.Pro2275=)
c.6456T= (p.Pro2152=)
5g.112842899_112842900insATCA2825001386APCc.7359_7360insAT (p.Val2454MetfsTer3)
c.*7311_*7312insAT (n.*7311_*7312insAT)
c.7251_7252insAT (p.Val2418MetfsTer3)
c.7305_7306insAT (p.Val2436MetfsTer3)
c.231-13750_231-13749insAT
c.7335_7336insAT (p.Val2446MetfsTer3)
c.7230_7231insAT (p.Val2411MetfsTer3)
c.7221_7222insAT (p.Val2408MetfsTer3)
c.7182_7183insAT (p.Val2395MetfsTer3)
c.7128_7129insAT (p.Val2377MetfsTer3)
c.7032_7033insAT (p.Val2345MetfsTer3)
c.7002_7003insAT (p.Val2335MetfsTer3)
c.6927_6928insAT (p.Val2310MetfsTer3)
c.6825_6826insAT (p.Val2276MetfsTer3)
c.6456_6457insAT (p.Val2153MetfsTer3)
ClinVar
5g.112842900G>ACA16037241APCc.7360G>A (p.Val2454Ile)
c.*7312G>A (n.*7312G>A)
c.7252G>A (p.Val2418Ile)
c.7306G>A (p.Val2436Ile)
c.231-13749G>A
c.7336G>A (p.Val2446Ile)
c.7231G>A (p.Val2411Ile)
c.7222G>A (p.Val2408Ile)
c.7183G>A (p.Val2395Ile)
c.7129G>A (p.Val2377Ile)
c.7033G>A (p.Val2345Ile)
c.7003G>A (p.Val2335Ile)
c.6928G>A (p.Val2310Ile)
c.6826G>A (p.Val2276Ile)
c.6457G>A (p.Val2153Ile)
ClinVar dbSNP
5g.112842900G>CCA16037242APCc.7360G>C (p.Val2454Leu)
c.*7312G>C (n.*7312G>C)
c.7252G>C (p.Val2418Leu)
c.7306G>C (p.Val2436Leu)
c.231-13749G>C
c.7336G>C (p.Val2446Leu)
c.7231G>C (p.Val2411Leu)
c.7222G>C (p.Val2408Leu)
c.7183G>C (p.Val2395Leu)
c.7129G>C (p.Val2377Leu)
c.7033G>C (p.Val2345Leu)
c.7003G>C (p.Val2335Leu)
c.6928G>C (p.Val2310Leu)
c.6826G>C (p.Val2276Leu)
c.6457G>C (p.Val2153Leu)
dbSNP
5g.112842900G=CA1573469241APCc.7360G= (p.Val2454=)
c.*7312G= (n.*7312G=)
c.7252G= (p.Val2418=)
c.7306G= (p.Val2436=)
c.231-13749G=
c.7336G= (p.Val2446=)
c.7231G= (p.Val2411=)
c.7222G= (p.Val2408=)
c.7183G= (p.Val2395=)
c.7129G= (p.Val2377=)
c.7033G= (p.Val2345=)
c.7003G= (p.Val2335=)
c.6928G= (p.Val2310=)
c.6826G= (p.Val2276=)
c.6457G= (p.Val2153=)
5g.112842900G>TCA16037243APCc.7360G>T (p.Val2454Leu)
c.*7312G>T (n.*7312G>T)
c.7252G>T (p.Val2418Leu)
c.7306G>T (p.Val2436Leu)
c.231-13749G>T
c.7336G>T (p.Val2446Leu)
c.7231G>T (p.Val2411Leu)
c.7222G>T (p.Val2408Leu)
c.7183G>T (p.Val2395Leu)
c.7129G>T (p.Val2377Leu)
c.7033G>T (p.Val2345Leu)
c.7003G>T (p.Val2335Leu)
c.6928G>T (p.Val2310Leu)
c.6826G>T (p.Val2276Leu)
c.6457G>T (p.Val2153Leu)
ClinVar dbSNP gnomAD v4
5g.112842901T>ACA16037244APCc.7361T>A (p.Val2454Glu)
c.*7313T>A (n.*7313T>A)
c.7253T>A (p.Val2418Glu)
c.7307T>A (p.Val2436Glu)
c.231-13748T>A
c.7337T>A (p.Val2446Glu)
c.7232T>A (p.Val2411Glu)
c.7223T>A (p.Val2408Glu)
c.7184T>A (p.Val2395Glu)
c.7130T>A (p.Val2377Glu)
c.7034T>A (p.Val2345Glu)
c.7004T>A (p.Val2335Glu)
c.6929T>A (p.Val2310Glu)
c.6827T>A (p.Val2276Glu)
c.6458T>A (p.Val2153Glu)
dbSNP
5g.112842901T>CCA16037245APCc.7361T>C (p.Val2454Ala)
c.*7313T>C (n.*7313T>C)
c.7253T>C (p.Val2418Ala)
c.7307T>C (p.Val2436Ala)
c.231-13748T>C
c.7337T>C (p.Val2446Ala)
c.7232T>C (p.Val2411Ala)
c.7223T>C (p.Val2408Ala)
c.7184T>C (p.Val2395Ala)
c.7130T>C (p.Val2377Ala)
c.7034T>C (p.Val2345Ala)
c.7004T>C (p.Val2335Ala)
c.6929T>C (p.Val2310Ala)
c.6827T>C (p.Val2276Ala)
c.6458T>C (p.Val2153Ala)
dbSNP
5g.112842901T>GCA16037246APCc.7361T>G (p.Val2454Gly)
c.*7313T>G (n.*7313T>G)
c.7253T>G (p.Val2418Gly)
c.7307T>G (p.Val2436Gly)
c.231-13748T>G
c.7337T>G (p.Val2446Gly)
c.7232T>G (p.Val2411Gly)
c.7223T>G (p.Val2408Gly)
c.7184T>G (p.Val2395Gly)
c.7130T>G (p.Val2377Gly)
c.7034T>G (p.Val2345Gly)
c.7004T>G (p.Val2335Gly)
c.6929T>G (p.Val2310Gly)
c.6827T>G (p.Val2276Gly)
c.6458T>G (p.Val2153Gly)
ClinVar dbSNP
5g.112842901T=CA1573469249APCc.7361T= (p.Val2454=)
c.*7313T= (n.*7313T=)
c.7253T= (p.Val2418=)
c.7307T= (p.Val2436=)
c.231-13748T=
c.7337T= (p.Val2446=)
c.7232T= (p.Val2411=)
c.7223T= (p.Val2408=)
c.7184T= (p.Val2395=)
c.7130T= (p.Val2377=)
c.7034T= (p.Val2345=)
c.7004T= (p.Val2335=)
c.6929T= (p.Val2310=)
c.6827T= (p.Val2276=)
c.6458T= (p.Val2153=)
5g.112842902A=CA1573469253APCc.7362A= (p.Val2454=)
c.*7314A= (n.*7314A=)
c.7254A= (p.Val2418=)
c.7308A= (p.Val2436=)
c.231-13747A=
c.7338A= (p.Val2446=)
c.7233A= (p.Val2411=)
c.7224A= (p.Val2408=)
c.7185A= (p.Val2395=)
c.7131A= (p.Val2377=)
c.7035A= (p.Val2345=)
c.7005A= (p.Val2335=)
c.6930A= (p.Val2310=)
c.6828A= (p.Val2276=)
c.6459A= (p.Val2153=)
5g.112842902A>CCA446210250APCc.7362A>C (p.Val2454=)
c.*7314A>C (n.*7314A>C)
c.7254A>C (p.Val2418=)
c.7308A>C (p.Val2436=)
c.231-13747A>C
c.7338A>C (p.Val2446=)
c.7233A>C (p.Val2411=)
c.7224A>C (p.Val2408=)
c.7185A>C (p.Val2395=)
c.7131A>C (p.Val2377=)
c.7035A>C (p.Val2345=)
c.7005A>C (p.Val2335=)
c.6930A>C (p.Val2310=)
c.6828A>C (p.Val2276=)
c.6459A>C (p.Val2153=)
5g.112842902A>GCA446210251APCc.7362A>G (p.Val2454=)
c.*7314A>G (n.*7314A>G)
c.7254A>G (p.Val2418=)
c.7308A>G (p.Val2436=)
c.231-13747A>G
c.7338A>G (p.Val2446=)
c.7233A>G (p.Val2411=)
c.7224A>G (p.Val2408=)
c.7185A>G (p.Val2395=)
c.7131A>G (p.Val2377=)
c.7035A>G (p.Val2345=)
c.7005A>G (p.Val2335=)
c.6930A>G (p.Val2310=)
c.6828A>G (p.Val2276=)
c.6459A>G (p.Val2153=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842902A>TCA446210252APCc.7362A>T (p.Val2454=)
c.*7314A>T (n.*7314A>T)
c.7254A>T (p.Val2418=)
c.7308A>T (p.Val2436=)
c.231-13747A>T
c.7338A>T (p.Val2446=)
c.7233A>T (p.Val2411=)
c.7224A>T (p.Val2408=)
c.7185A>T (p.Val2395=)
c.7131A>T (p.Val2377=)
c.7035A>T (p.Val2345=)
c.7005A>T (p.Val2335=)
c.6930A>T (p.Val2310=)
c.6828A>T (p.Val2276=)
c.6459A>T (p.Val2153=)
5g.112842903T>ACA16037247APCc.7363T>A (p.Leu2455Ile)
c.*7315T>A (n.*7315T>A)
c.7255T>A (p.Leu2419Ile)
c.7309T>A (p.Leu2437Ile)
c.231-13746T>A
c.7339T>A (p.Leu2447Ile)
c.7234T>A (p.Leu2412Ile)
c.7225T>A (p.Leu2409Ile)
c.7186T>A (p.Leu2396Ile)
c.7132T>A (p.Leu2378Ile)
c.7036T>A (p.Leu2346Ile)
c.7006T>A (p.Leu2336Ile)
c.6931T>A (p.Leu2311Ile)
c.6829T>A (p.Leu2277Ile)
c.6460T>A (p.Leu2154Ile)
5g.112842903T>CCA446210253APCc.7363T>C (p.Leu2455=)
c.*7315T>C (n.*7315T>C)
c.7255T>C (p.Leu2419=)
c.7309T>C (p.Leu2437=)
c.231-13746T>C
c.7339T>C (p.Leu2447=)
c.7234T>C (p.Leu2412=)
c.7225T>C (p.Leu2409=)
c.7186T>C (p.Leu2396=)
c.7132T>C (p.Leu2378=)
c.7036T>C (p.Leu2346=)
c.7006T>C (p.Leu2336=)
c.6931T>C (p.Leu2311=)
c.6829T>C (p.Leu2277=)
c.6460T>C (p.Leu2154=)
ClinVar dbSNP
5g.112842903T>GCA16037248APCc.7363T>G (p.Leu2455Val)
c.*7315T>G (n.*7315T>G)
c.7255T>G (p.Leu2419Val)
c.7309T>G (p.Leu2437Val)
c.231-13746T>G
c.7339T>G (p.Leu2447Val)
c.7234T>G (p.Leu2412Val)
c.7225T>G (p.Leu2409Val)
c.7186T>G (p.Leu2396Val)
c.7132T>G (p.Leu2378Val)
c.7036T>G (p.Leu2346Val)
c.7006T>G (p.Leu2336Val)
c.6931T>G (p.Leu2311Val)
c.6829T>G (p.Leu2277Val)
c.6460T>G (p.Leu2154Val)
ClinVar dbSNP gnomAD v4
5g.112842903T=CA1573469263APCc.7363T= (p.Leu2455=)
c.*7315T= (n.*7315T=)
c.7255T= (p.Leu2419=)
c.7309T= (p.Leu2437=)
c.231-13746T=
c.7339T= (p.Leu2447=)
c.7234T= (p.Leu2412=)
c.7225T= (p.Leu2409=)
c.7186T= (p.Leu2396=)
c.7132T= (p.Leu2378=)
c.7036T= (p.Leu2346=)
c.7006T= (p.Leu2336=)
c.6931T= (p.Leu2311=)
c.6829T= (p.Leu2277=)
c.6460T= (p.Leu2154=)
5g.112842904delCA2709975568APCc.7364del (p.Leu2455Ter)
c.*7316del (n.*7316del)
c.7256del (p.Leu2419Ter)
c.7310del (p.Leu2437Ter)
c.231-13745del
c.7340del (p.Leu2447Ter)
c.7235del (p.Leu2412Ter)
c.7226del (p.Leu2409Ter)
c.7187del (p.Leu2396Ter)
c.7133del (p.Leu2378Ter)
c.7037del (p.Leu2346Ter)
c.7007del (p.Leu2336Ter)
c.6932del (p.Leu2311Ter)
c.6830del (p.Leu2277Ter)
c.6461del (p.Leu2154Ter)
dbSNP
5g.112842904T>ACA16037249APCc.7364T>A (p.Leu2455Ter)
c.*7316T>A (n.*7316T>A)
c.7256T>A (p.Leu2419Ter)
c.7310T>A (p.Leu2437Ter)
c.231-13745T>A
c.7340T>A (p.Leu2447Ter)
c.7235T>A (p.Leu2412Ter)
c.7226T>A (p.Leu2409Ter)
c.7187T>A (p.Leu2396Ter)
c.7133T>A (p.Leu2378Ter)
c.7037T>A (p.Leu2346Ter)
c.7007T>A (p.Leu2336Ter)
c.6932T>A (p.Leu2311Ter)
c.6830T>A (p.Leu2277Ter)
c.6461T>A (p.Leu2154Ter)
dbSNP
5g.112842904T>CCA16037250APCc.7364T>C (p.Leu2455Ser)
c.*7316T>C (n.*7316T>C)
c.7256T>C (p.Leu2419Ser)
c.7310T>C (p.Leu2437Ser)
c.231-13745T>C
c.7340T>C (p.Leu2447Ser)
c.7235T>C (p.Leu2412Ser)
c.7226T>C (p.Leu2409Ser)
c.7187T>C (p.Leu2396Ser)
c.7133T>C (p.Leu2378Ser)
c.7037T>C (p.Leu2346Ser)
c.7007T>C (p.Leu2336Ser)
c.6932T>C (p.Leu2311Ser)
c.6830T>C (p.Leu2277Ser)
c.6461T>C (p.Leu2154Ser)
dbSNP
5g.112842904T>GCA16037251APCc.7364T>G (p.Leu2455Ter)
c.*7316T>G (n.*7316T>G)
c.7256T>G (p.Leu2419Ter)
c.7310T>G (p.Leu2437Ter)
c.231-13745T>G
c.7340T>G (p.Leu2447Ter)
c.7235T>G (p.Leu2412Ter)
c.7226T>G (p.Leu2409Ter)
c.7187T>G (p.Leu2396Ter)
c.7133T>G (p.Leu2378Ter)
c.7037T>G (p.Leu2346Ter)
c.7007T>G (p.Leu2336Ter)
c.6932T>G (p.Leu2311Ter)
c.6830T>G (p.Leu2277Ter)
c.6461T>G (p.Leu2154Ter)
5g.112842906_112842908dupCA1139659002APCc.7366_7368dup (p.Val2456_Arg2457insVal)
c.*7318_*7320dup (n.*7318_*7320dup)
c.7258_7260dup (p.Val2420_Arg2421insVal)
c.7312_7314dup (p.Val2438_Arg2439insVal)
c.231-13743_231-13741dup
c.7342_7344dup (p.Val2448_Arg2449insVal)
c.7237_7239dup (p.Val2413_Arg2414insVal)
c.7228_7230dup (p.Val2410_Arg2411insVal)
c.7189_7191dup (p.Val2397_Arg2398insVal)
c.7135_7137dup (p.Val2379_Arg2380insVal)
c.7039_7041dup (p.Val2347_Arg2348insVal)
c.7009_7011dup (p.Val2337_Arg2338insVal)
c.6934_6936dup (p.Val2312_Arg2313insVal)
c.6832_6834dup (p.Val2278_Arg2279insVal)
c.6463_6465dup (p.Val2155_Arg2156insVal)
ClinVar dbSNP
5g.112842905A=CA1573469278APCc.7365A= (p.Leu2455=)
c.*7317A= (n.*7317A=)
c.7257A= (p.Leu2419=)
c.7311A= (p.Leu2437=)
c.231-13744A=
c.7341A= (p.Leu2447=)
c.7236A= (p.Leu2412=)
c.7227A= (p.Leu2409=)
c.7188A= (p.Leu2396=)
c.7134A= (p.Leu2378=)
c.7038A= (p.Leu2346=)
c.7008A= (p.Leu2336=)
c.6933A= (p.Leu2311=)
c.6831A= (p.Leu2277=)
c.6462A= (p.Leu2154=)
5g.112842905A>CCA047753APCc.7365A>C (p.Leu2455Phe)
c.*7317A>C (n.*7317A>C)
c.7257A>C (p.Leu2419Phe)
c.7311A>C (p.Leu2437Phe)
c.231-13744A>C
c.7341A>C (p.Leu2447Phe)
c.7236A>C (p.Leu2412Phe)
c.7227A>C (p.Leu2409Phe)
c.7188A>C (p.Leu2396Phe)
c.7134A>C (p.Leu2378Phe)
c.7038A>C (p.Leu2346Phe)
c.7008A>C (p.Leu2336Phe)
c.6933A>C (p.Leu2311Phe)
c.6831A>C (p.Leu2277Phe)
c.6462A>C (p.Leu2154Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842905A>GCA125167818APCc.7365A>G (p.Leu2455=)
c.*7317A>G (n.*7317A>G)
c.7257A>G (p.Leu2419=)
c.7311A>G (p.Leu2437=)
c.231-13744A>G
c.7341A>G (p.Leu2447=)
c.7236A>G (p.Leu2412=)
c.7227A>G (p.Leu2409=)
c.7188A>G (p.Leu2396=)
c.7134A>G (p.Leu2378=)
c.7038A>G (p.Leu2346=)
c.7008A>G (p.Leu2336=)
c.6933A>G (p.Leu2311=)
c.6831A>G (p.Leu2277=)
c.6462A>G (p.Leu2154=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842905A>TCA16037252APCc.7365A>T (p.Leu2455Phe)
c.*7317A>T (n.*7317A>T)
c.7257A>T (p.Leu2419Phe)
c.7311A>T (p.Leu2437Phe)
c.231-13744A>T
c.7341A>T (p.Leu2447Phe)
c.7236A>T (p.Leu2412Phe)
c.7227A>T (p.Leu2409Phe)
c.7188A>T (p.Leu2396Phe)
c.7134A>T (p.Leu2378Phe)
c.7038A>T (p.Leu2346Phe)
c.7008A>T (p.Leu2336Phe)
c.6933A>T (p.Leu2311Phe)
c.6831A>T (p.Leu2277Phe)
c.6462A>T (p.Leu2154Phe)
5g.112842906G>ACA16037253APCc.7366G>A (p.Val2456Ile)
c.*7318G>A (n.*7318G>A)
c.7258G>A (p.Val2420Ile)
c.7312G>A (p.Val2438Ile)
c.231-13743G>A
c.7342G>A (p.Val2448Ile)
c.7237G>A (p.Val2413Ile)
c.7228G>A (p.Val2410Ile)
c.7189G>A (p.Val2397Ile)
c.7135G>A (p.Val2379Ile)
c.7039G>A (p.Val2347Ile)
c.7009G>A (p.Val2337Ile)
c.6934G>A (p.Val2312Ile)
c.6832G>A (p.Val2278Ile)
c.6463G>A (p.Val2155Ile)
ClinVar dbSNP gnomAD v4
5g.112842906G>CCA16037254APCc.7366G>C (p.Val2456Leu)
c.*7318G>C (n.*7318G>C)
c.7258G>C (p.Val2420Leu)
c.7312G>C (p.Val2438Leu)
c.231-13743G>C
c.7342G>C (p.Val2448Leu)
c.7237G>C (p.Val2413Leu)
c.7228G>C (p.Val2410Leu)
c.7189G>C (p.Val2397Leu)
c.7135G>C (p.Val2379Leu)
c.7039G>C (p.Val2347Leu)
c.7009G>C (p.Val2337Leu)
c.6934G>C (p.Val2312Leu)
c.6832G>C (p.Val2278Leu)
c.6463G>C (p.Val2155Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842906G=CA1573469306APCc.7366G= (p.Val2456=)
c.*7318G= (n.*7318G=)
c.7258G= (p.Val2420=)
c.7312G= (p.Val2438=)
c.231-13743G=
c.7342G= (p.Val2448=)
c.7237G= (p.Val2413=)
c.7228G= (p.Val2410=)
c.7189G= (p.Val2397=)
c.7135G= (p.Val2379=)
c.7039G= (p.Val2347=)
c.7009G= (p.Val2337=)
c.6934G= (p.Val2312=)
c.6832G= (p.Val2278=)
c.6463G= (p.Val2155=)
5g.112842906G>TCA16037255APCc.7366G>T (p.Val2456Leu)
c.*7318G>T (n.*7318G>T)
c.7258G>T (p.Val2420Leu)
c.7312G>T (p.Val2438Leu)
c.231-13743G>T
c.7342G>T (p.Val2448Leu)
c.7237G>T (p.Val2413Leu)
c.7228G>T (p.Val2410Leu)
c.7189G>T (p.Val2397Leu)
c.7135G>T (p.Val2379Leu)
c.7039G>T (p.Val2347Leu)
c.7009G>T (p.Val2337Leu)
c.6934G>T (p.Val2312Leu)
c.6832G>T (p.Val2278Leu)
c.6463G>T (p.Val2155Leu)
ClinVar dbSNP
5g.112842907T>ACA16037256APCc.7367T>A (p.Val2456Glu)
c.*7319T>A (n.*7319T>A)
c.7259T>A (p.Val2420Glu)
c.7313T>A (p.Val2438Glu)
c.231-13742T>A
c.7343T>A (p.Val2448Glu)
c.7238T>A (p.Val2413Glu)
c.7229T>A (p.Val2410Glu)
c.7190T>A (p.Val2397Glu)
c.7136T>A (p.Val2379Glu)
c.7040T>A (p.Val2347Glu)
c.7010T>A (p.Val2337Glu)
c.6935T>A (p.Val2312Glu)
c.6833T>A (p.Val2278Glu)
c.6464T>A (p.Val2155Glu)
ClinVar dbSNP
5g.112842907T>CCA16037257APCc.7367T>C (p.Val2456Ala)
c.*7319T>C (n.*7319T>C)
c.7259T>C (p.Val2420Ala)
c.7313T>C (p.Val2438Ala)
c.231-13742T>C
c.7343T>C (p.Val2448Ala)
c.7238T>C (p.Val2413Ala)
c.7229T>C (p.Val2410Ala)
c.7190T>C (p.Val2397Ala)
c.7136T>C (p.Val2379Ala)
c.7040T>C (p.Val2347Ala)
c.7010T>C (p.Val2337Ala)
c.6935T>C (p.Val2312Ala)
c.6833T>C (p.Val2278Ala)
c.6464T>C (p.Val2155Ala)
dbSNP COSMIC
5g.112842907T>GCA16037258APCc.7367T>G (p.Val2456Gly)
c.*7319T>G (n.*7319T>G)
c.7259T>G (p.Val2420Gly)
c.7313T>G (p.Val2438Gly)
c.231-13742T>G
c.7343T>G (p.Val2448Gly)
c.7238T>G (p.Val2413Gly)
c.7229T>G (p.Val2410Gly)
c.7190T>G (p.Val2397Gly)
c.7136T>G (p.Val2379Gly)
c.7040T>G (p.Val2347Gly)
c.7010T>G (p.Val2337Gly)
c.6935T>G (p.Val2312Gly)
c.6833T>G (p.Val2278Gly)
c.6464T>G (p.Val2155Gly)
5g.112842908A>CCA446210254APCc.7368A>C (p.Val2456=)
c.*7320A>C (n.*7320A>C)
c.7260A>C (p.Val2420=)
c.7314A>C (p.Val2438=)
c.231-13741A>C
c.7344A>C (p.Val2448=)
c.7239A>C (p.Val2413=)
c.7230A>C (p.Val2410=)
c.7191A>C (p.Val2397=)
c.7137A>C (p.Val2379=)
c.7041A>C (p.Val2347=)
c.7011A>C (p.Val2337=)
c.6936A>C (p.Val2312=)
c.6834A>C (p.Val2278=)
c.6465A>C (p.Val2155=)
dbSNP
5g.112842908A>GCA446210255APCc.7368A>G (p.Val2456=)
c.*7320A>G (n.*7320A>G)
c.7260A>G (p.Val2420=)
c.7314A>G (p.Val2438=)
c.231-13741A>G
c.7344A>G (p.Val2448=)
c.7239A>G (p.Val2413=)
c.7230A>G (p.Val2410=)
c.7191A>G (p.Val2397=)
c.7137A>G (p.Val2379=)
c.7041A>G (p.Val2347=)
c.7011A>G (p.Val2337=)
c.6936A>G (p.Val2312=)
c.6834A>G (p.Val2278=)
c.6465A>G (p.Val2155=)
dbSNP
5g.112842908A>TCA446210256APCc.7368A>T (p.Val2456=)
c.*7320A>T (n.*7320A>T)
c.7260A>T (p.Val2420=)
c.7314A>T (p.Val2438=)
c.231-13741A>T
c.7344A>T (p.Val2448=)
c.7239A>T (p.Val2413=)
c.7230A>T (p.Val2410=)
c.7191A>T (p.Val2397=)
c.7137A>T (p.Val2379=)
c.7041A>T (p.Val2347=)
c.7011A>T (p.Val2337=)
c.6936A>T (p.Val2312=)
c.6834A>T (p.Val2278=)
c.6465A>T (p.Val2155=)
dbSNP
5g.112842909C>ACA16037259APCc.7369C>A (p.Arg2457Ser)
c.*7321C>A (n.*7321C>A)
c.7261C>A (p.Arg2421Ser)
c.7315C>A (p.Arg2439Ser)
c.231-13740C>A
c.7345C>A (p.Arg2449Ser)
c.7240C>A (p.Arg2414Ser)
c.7231C>A (p.Arg2411Ser)
c.7192C>A (p.Arg2398Ser)
c.7138C>A (p.Arg2380Ser)
c.7042C>A (p.Arg2348Ser)
c.7012C>A (p.Arg2338Ser)
c.6937C>A (p.Arg2313Ser)
c.6835C>A (p.Arg2279Ser)
c.6466C>A (p.Arg2156Ser)
dbSNP
5g.112842909C=CA1573469328APCc.7369C= (p.Arg2457=)
c.*7321C= (n.*7321C=)
c.7261C= (p.Arg2421=)
c.7315C= (p.Arg2439=)
c.231-13740C=
c.7345C= (p.Arg2449=)
c.7240C= (p.Arg2414=)
c.7231C= (p.Arg2411=)
c.7192C= (p.Arg2398=)
c.7138C= (p.Arg2380=)
c.7042C= (p.Arg2348=)
c.7012C= (p.Arg2338=)
c.6937C= (p.Arg2313=)
c.6835C= (p.Arg2279=)
c.6466C= (p.Arg2156=)
5g.112842909C>GCA16037260APCc.7369C>G (p.Arg2457Gly)
c.*7321C>G (n.*7321C>G)
c.7261C>G (p.Arg2421Gly)
c.7315C>G (p.Arg2439Gly)
c.231-13740C>G
c.7345C>G (p.Arg2449Gly)
c.7240C>G (p.Arg2414Gly)
c.7231C>G (p.Arg2411Gly)
c.7192C>G (p.Arg2398Gly)
c.7138C>G (p.Arg2380Gly)
c.7042C>G (p.Arg2348Gly)
c.7012C>G (p.Arg2338Gly)
c.6937C>G (p.Arg2313Gly)
c.6835C>G (p.Arg2279Gly)
c.6466C>G (p.Arg2156Gly)
dbSNP
5g.112842909C>TCA16037261APCc.7369C>T (p.Arg2457Cys)
c.*7321C>T (n.*7321C>T)
c.7261C>T (p.Arg2421Cys)
c.7315C>T (p.Arg2439Cys)
c.231-13740C>T
c.7345C>T (p.Arg2449Cys)
c.7240C>T (p.Arg2414Cys)
c.7231C>T (p.Arg2411Cys)
c.7192C>T (p.Arg2398Cys)
c.7138C>T (p.Arg2380Cys)
c.7042C>T (p.Arg2348Cys)
c.7012C>T (p.Arg2338Cys)
c.6937C>T (p.Arg2313Cys)
c.6835C>T (p.Arg2279Cys)
c.6466C>T (p.Arg2156Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched