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.112842600_112842661delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAACCA1573465904APCc.7060_7121delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2354=)
c.*7012_*7073delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (n.*7012_*7073delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC)
c.6952_7013delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2318=)
c.7006_7067delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2336=)
c.*6328_*6389delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (n.*6328_*6389delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC)
c.230+13628_230+13689delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC
c.7036_7097delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2346=)
c.6931_6992delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2311=)
c.6922_6983delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2308=)
c.6883_6944delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2295=)
c.6829_6890delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2277=)
c.6733_6794delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2245=)
c.6703_6764delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2235=)
c.6628_6689delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2210=)
c.6526_6587delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2176=)
c.6157_6218delinsATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC (p.Ile2053=)
5g.112842610_112842670delCA046621APCc.7070_7130del (p.Pro2357GlnfsTer15)
c.*7022_*7082del (n.*7022_*7082del)
c.6962_7022del (p.Pro2321GlnfsTer15)
c.7016_7076del (p.Pro2339GlnfsTer15)
c.*6338_*6398del (n.*6338_*6398del)
c.230+13638_230+13698del
c.7046_7106del (p.Pro2349GlnfsTer15)
c.6941_7001del (p.Pro2314GlnfsTer15)
c.6932_6992del (p.Pro2311GlnfsTer15)
c.6893_6953del (p.Pro2298GlnfsTer15)
c.6839_6899del (p.Pro2280GlnfsTer15)
c.6743_6803del (p.Pro2248GlnfsTer15)
c.6713_6773del (p.Pro2238GlnfsTer15)
c.6638_6698del (p.Pro2213GlnfsTer15)
c.6536_6596del (p.Pro2179GlnfsTer15)
c.6167_6227del (p.Pro2056GlnfsTer15)
ClinVar dbSNP ExAC gnomAD v2
5g.112842613A>CCA16036630APCc.7073A>C (p.Asn2358Thr)
c.*7025A>C (n.*7025A>C)
c.6965A>C (p.Asn2322Thr)
c.7019A>C (p.Asn2340Thr)
c.*6341A>C (n.*6341A>C)
c.230+13641A>C
c.7049A>C (p.Asn2350Thr)
c.6944A>C (p.Asn2315Thr)
c.6935A>C (p.Asn2312Thr)
c.6896A>C (p.Asn2299Thr)
c.6842A>C (p.Asn2281Thr)
c.6746A>C (p.Asn2249Thr)
c.6716A>C (p.Asn2239Thr)
c.6641A>C (p.Asn2214Thr)
c.6539A>C (p.Asn2180Thr)
c.6170A>C (p.Asn2057Thr)
dbSNP
5g.112842613A>GCA16036631APCc.7073A>G (p.Asn2358Ser)
c.*7025A>G (n.*7025A>G)
c.6965A>G (p.Asn2322Ser)
c.7019A>G (p.Asn2340Ser)
c.*6341A>G (n.*6341A>G)
c.230+13641A>G
c.7049A>G (p.Asn2350Ser)
c.6944A>G (p.Asn2315Ser)
c.6935A>G (p.Asn2312Ser)
c.6896A>G (p.Asn2299Ser)
c.6842A>G (p.Asn2281Ser)
c.6746A>G (p.Asn2249Ser)
c.6716A>G (p.Asn2239Ser)
c.6641A>G (p.Asn2214Ser)
c.6539A>G (p.Asn2180Ser)
c.6170A>G (p.Asn2057Ser)
dbSNP
5g.112842613A>TCA16036632APCc.7073A>T (p.Asn2358Ile)
c.*7025A>T (n.*7025A>T)
c.6965A>T (p.Asn2322Ile)
c.7019A>T (p.Asn2340Ile)
c.*6341A>T (n.*6341A>T)
c.230+13641A>T
c.7049A>T (p.Asn2350Ile)
c.6944A>T (p.Asn2315Ile)
c.6935A>T (p.Asn2312Ile)
c.6896A>T (p.Asn2299Ile)
c.6842A>T (p.Asn2281Ile)
c.6746A>T (p.Asn2249Ile)
c.6716A>T (p.Asn2239Ile)
c.6641A>T (p.Asn2214Ile)
c.6539A>T (p.Asn2180Ile)
c.6170A>T (p.Asn2057Ile)
dbSNP
5g.112842614C>ACA16036633APCc.7074C>A (p.Asn2358Lys)
c.*7026C>A (n.*7026C>A)
c.6966C>A (p.Asn2322Lys)
c.7020C>A (p.Asn2340Lys)
c.*6342C>A (n.*6342C>A)
c.230+13642C>A
c.7050C>A (p.Asn2350Lys)
c.6945C>A (p.Asn2315Lys)
c.6936C>A (p.Asn2312Lys)
c.6897C>A (p.Asn2299Lys)
c.6843C>A (p.Asn2281Lys)
c.6747C>A (p.Asn2249Lys)
c.6717C>A (p.Asn2239Lys)
c.6642C>A (p.Asn2214Lys)
c.6540C>A (p.Asn2180Lys)
c.6171C>A (p.Asn2057Lys)
ClinVar dbSNP
5g.112842614C=CA1573466081APCc.7074C= (p.Asn2358=)
c.*7026C= (n.*7026C=)
c.6966C= (p.Asn2322=)
c.7020C= (p.Asn2340=)
c.*6342C= (n.*6342C=)
c.230+13642C=
c.7050C= (p.Asn2350=)
c.6945C= (p.Asn2315=)
c.6936C= (p.Asn2312=)
c.6897C= (p.Asn2299=)
c.6843C= (p.Asn2281=)
c.6747C= (p.Asn2249=)
c.6717C= (p.Asn2239=)
c.6642C= (p.Asn2214=)
c.6540C= (p.Asn2180=)
c.6171C= (p.Asn2057=)
5g.112842614C>GCA16036634APCc.7074C>G (p.Asn2358Lys)
c.*7026C>G (n.*7026C>G)
c.6966C>G (p.Asn2322Lys)
c.7020C>G (p.Asn2340Lys)
c.*6342C>G (n.*6342C>G)
c.230+13642C>G
c.7050C>G (p.Asn2350Lys)
c.6945C>G (p.Asn2315Lys)
c.6936C>G (p.Asn2312Lys)
c.6897C>G (p.Asn2299Lys)
c.6843C>G (p.Asn2281Lys)
c.6747C>G (p.Asn2249Lys)
c.6717C>G (p.Asn2239Lys)
c.6642C>G (p.Asn2214Lys)
c.6540C>G (p.Asn2180Lys)
c.6171C>G (p.Asn2057Lys)
ClinVar dbSNP
5g.112842614C>TCA046671APCc.7074C>T (p.Asn2358=)
c.*7026C>T (n.*7026C>T)
c.6966C>T (p.Asn2322=)
c.7020C>T (p.Asn2340=)
c.*6342C>T (n.*6342C>T)
c.230+13642C>T
c.7050C>T (p.Asn2350=)
c.6945C>T (p.Asn2315=)
c.6936C>T (p.Asn2312=)
c.6897C>T (p.Asn2299=)
c.6843C>T (p.Asn2281=)
c.6747C>T (p.Asn2249=)
c.6717C>T (p.Asn2239=)
c.6642C>T (p.Asn2214=)
c.6540C>T (p.Asn2180=)
c.6171C>T (p.Asn2057=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842615A>CCA16036635APCc.7075A>C (p.Lys2359Gln)
c.*7027A>C (n.*7027A>C)
c.6967A>C (p.Lys2323Gln)
c.7021A>C (p.Lys2341Gln)
c.*6343A>C (n.*6343A>C)
c.230+13643A>C
c.7051A>C (p.Lys2351Gln)
c.6946A>C (p.Lys2316Gln)
c.6937A>C (p.Lys2313Gln)
c.6898A>C (p.Lys2300Gln)
c.6844A>C (p.Lys2282Gln)
c.6748A>C (p.Lys2250Gln)
c.6718A>C (p.Lys2240Gln)
c.6643A>C (p.Lys2215Gln)
c.6541A>C (p.Lys2181Gln)
c.6172A>C (p.Lys2058Gln)
5g.112842615A>GCA16036636APCc.7075A>G (p.Lys2359Glu)
c.*7027A>G (n.*7027A>G)
c.6967A>G (p.Lys2323Glu)
c.7021A>G (p.Lys2341Glu)
c.*6343A>G (n.*6343A>G)
c.230+13643A>G
c.7051A>G (p.Lys2351Glu)
c.6946A>G (p.Lys2316Glu)
c.6937A>G (p.Lys2313Glu)
c.6898A>G (p.Lys2300Glu)
c.6844A>G (p.Lys2282Glu)
c.6748A>G (p.Lys2250Glu)
c.6718A>G (p.Lys2240Glu)
c.6643A>G (p.Lys2215Glu)
c.6541A>G (p.Lys2181Glu)
c.6172A>G (p.Lys2058Glu)
dbSNP
5g.112842615A>TCA16036637APCc.7075A>T (p.Lys2359Ter)
c.*7027A>T (n.*7027A>T)
c.6967A>T (p.Lys2323Ter)
c.7021A>T (p.Lys2341Ter)
c.*6343A>T (n.*6343A>T)
c.230+13643A>T
c.7051A>T (p.Lys2351Ter)
c.6946A>T (p.Lys2316Ter)
c.6937A>T (p.Lys2313Ter)
c.6898A>T (p.Lys2300Ter)
c.6844A>T (p.Lys2282Ter)
c.6748A>T (p.Lys2250Ter)
c.6718A>T (p.Lys2240Ter)
c.6643A>T (p.Lys2215Ter)
c.6541A>T (p.Lys2181Ter)
c.6172A>T (p.Lys2058Ter)
dbSNP
5g.112842616A=CA1573466104APCc.7076A= (p.Lys2359=)
c.*7028A= (n.*7028A=)
c.6968A= (p.Lys2323=)
c.7022A= (p.Lys2341=)
c.*6344A= (n.*6344A=)
c.230+13644A=
c.7052A= (p.Lys2351=)
c.6947A= (p.Lys2316=)
c.6938A= (p.Lys2313=)
c.6899A= (p.Lys2300=)
c.6845A= (p.Lys2282=)
c.6749A= (p.Lys2250=)
c.6719A= (p.Lys2240=)
c.6644A= (p.Lys2215=)
c.6542A= (p.Lys2181=)
c.6173A= (p.Lys2058=)
5g.112842616A>CCA16036638APCc.7076A>C (p.Lys2359Thr)
c.*7028A>C (n.*7028A>C)
c.6968A>C (p.Lys2323Thr)
c.7022A>C (p.Lys2341Thr)
c.*6344A>C (n.*6344A>C)
c.230+13644A>C
c.7052A>C (p.Lys2351Thr)
c.6947A>C (p.Lys2316Thr)
c.6938A>C (p.Lys2313Thr)
c.6899A>C (p.Lys2300Thr)
c.6845A>C (p.Lys2282Thr)
c.6749A>C (p.Lys2250Thr)
c.6719A>C (p.Lys2240Thr)
c.6644A>C (p.Lys2215Thr)
c.6542A>C (p.Lys2181Thr)
c.6173A>C (p.Lys2058Thr)
5g.112842616A>GCA046686APCc.7076A>G (p.Lys2359Arg)
c.*7028A>G (n.*7028A>G)
c.6968A>G (p.Lys2323Arg)
c.7022A>G (p.Lys2341Arg)
c.*6344A>G (n.*6344A>G)
c.230+13644A>G
c.7052A>G (p.Lys2351Arg)
c.6947A>G (p.Lys2316Arg)
c.6938A>G (p.Lys2313Arg)
c.6899A>G (p.Lys2300Arg)
c.6845A>G (p.Lys2282Arg)
c.6749A>G (p.Lys2250Arg)
c.6719A>G (p.Lys2240Arg)
c.6644A>G (p.Lys2215Arg)
c.6542A>G (p.Lys2181Arg)
c.6173A>G (p.Lys2058Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842616A>TCA16036639APCc.7076A>T (p.Lys2359Ile)
c.*7028A>T (n.*7028A>T)
c.6968A>T (p.Lys2323Ile)
c.7022A>T (p.Lys2341Ile)
c.*6344A>T (n.*6344A>T)
c.230+13644A>T
c.7052A>T (p.Lys2351Ile)
c.6947A>T (p.Lys2316Ile)
c.6938A>T (p.Lys2313Ile)
c.6899A>T (p.Lys2300Ile)
c.6845A>T (p.Lys2282Ile)
c.6749A>T (p.Lys2250Ile)
c.6719A>T (p.Lys2240Ile)
c.6644A>T (p.Lys2215Ile)
c.6542A>T (p.Lys2181Ile)
c.6173A>T (p.Lys2058Ile)
dbSNP
5g.112842616_112842619delinsAATTCA1573466097APCc.7076_7079delinsAATT (p.Lys2359=)
c.*7028_*7031delinsAATT (n.*7028_*7031delinsAATT)
c.6968_6971delinsAATT (p.Lys2323=)
c.7022_7025delinsAATT (p.Lys2341=)
c.*6344_*6347delinsAATT (n.*6344_*6347delinsAATT)
c.230+13644_230+13647delinsAATT
c.7052_7055delinsAATT (p.Lys2351=)
c.6947_6950delinsAATT (p.Lys2316=)
c.6938_6941delinsAATT (p.Lys2313=)
c.6899_6902delinsAATT (p.Lys2300=)
c.6845_6848delinsAATT (p.Lys2282=)
c.6749_6752delinsAATT (p.Lys2250=)
c.6719_6722delinsAATT (p.Lys2240=)
c.6644_6647delinsAATT (p.Lys2215=)
c.6542_6545delinsAATT (p.Lys2181=)
c.6173_6176delinsAATT (p.Lys2058=)
5g.112842617A>CCA16036640APCc.7077A>C (p.Lys2359Asn)
c.*7029A>C (n.*7029A>C)
c.6969A>C (p.Lys2323Asn)
c.7023A>C (p.Lys2341Asn)
c.*6345A>C (n.*6345A>C)
c.230+13645A>C
c.7053A>C (p.Lys2351Asn)
c.6948A>C (p.Lys2316Asn)
c.6939A>C (p.Lys2313Asn)
c.6900A>C (p.Lys2300Asn)
c.6846A>C (p.Lys2282Asn)
c.6750A>C (p.Lys2250Asn)
c.6720A>C (p.Lys2240Asn)
c.6645A>C (p.Lys2215Asn)
c.6543A>C (p.Lys2181Asn)
c.6174A>C (p.Lys2058Asn)
dbSNP
5g.112842617A>GCA446210740APCc.7077A>G (p.Lys2359=)
c.*7029A>G (n.*7029A>G)
c.6969A>G (p.Lys2323=)
c.7023A>G (p.Lys2341=)
c.*6345A>G (n.*6345A>G)
c.230+13645A>G
c.7053A>G (p.Lys2351=)
c.6948A>G (p.Lys2316=)
c.6939A>G (p.Lys2313=)
c.6900A>G (p.Lys2300=)
c.6846A>G (p.Lys2282=)
c.6750A>G (p.Lys2250=)
c.6720A>G (p.Lys2240=)
c.6645A>G (p.Lys2215=)
c.6543A>G (p.Lys2181=)
c.6174A>G (p.Lys2058=)
ClinVar dbSNP
5g.112842617A>TCA16036641APCc.7077A>T (p.Lys2359Asn)
c.*7029A>T (n.*7029A>T)
c.6969A>T (p.Lys2323Asn)
c.7023A>T (p.Lys2341Asn)
c.*6345A>T (n.*6345A>T)
c.230+13645A>T
c.7053A>T (p.Lys2351Asn)
c.6948A>T (p.Lys2316Asn)
c.6939A>T (p.Lys2313Asn)
c.6900A>T (p.Lys2300Asn)
c.6846A>T (p.Lys2282Asn)
c.6750A>T (p.Lys2250Asn)
c.6720A>T (p.Lys2240Asn)
c.6645A>T (p.Lys2215Asn)
c.6543A>T (p.Lys2181Asn)
c.6174A>T (p.Lys2058Asn)
dbSNP
5g.112842619_112842621delCA1139659000APCc.7079_7081del (p.Leu2360del)
c.*7031_*7033del (n.*7031_*7033del)
c.6971_6973del (p.Leu2324del)
c.7025_7027del (p.Leu2342del)
c.*6347_*6349del (n.*6347_*6349del)
c.230+13647_230+13649del
c.7055_7057del (p.Leu2352del)
c.6950_6952del (p.Leu2317del)
c.6941_6943del (p.Leu2314del)
c.6902_6904del (p.Leu2301del)
c.6848_6850del (p.Leu2283del)
c.6752_6754del (p.Leu2251del)
c.6722_6724del (p.Leu2241del)
c.6647_6649del (p.Leu2216del)
c.6545_6547del (p.Leu2182del)
c.6176_6178del (p.Leu2059del)
ClinVar dbSNP
5g.112842618T>ACA16036642APCc.7078T>A (p.Leu2360Ile)
c.*7030T>A (n.*7030T>A)
c.6970T>A (p.Leu2324Ile)
c.7024T>A (p.Leu2342Ile)
c.*6346T>A (n.*6346T>A)
c.230+13646T>A
c.7054T>A (p.Leu2352Ile)
c.6949T>A (p.Leu2317Ile)
c.6940T>A (p.Leu2314Ile)
c.6901T>A (p.Leu2301Ile)
c.6847T>A (p.Leu2283Ile)
c.6751T>A (p.Leu2251Ile)
c.6721T>A (p.Leu2241Ile)
c.6646T>A (p.Leu2216Ile)
c.6544T>A (p.Leu2182Ile)
c.6175T>A (p.Leu2059Ile)
dbSNP gnomAD v4
5g.112842618T>CCA446210745APCc.7078T>C (p.Leu2360=)
c.*7030T>C (n.*7030T>C)
c.6970T>C (p.Leu2324=)
c.7024T>C (p.Leu2342=)
c.*6346T>C (n.*6346T>C)
c.230+13646T>C
c.7054T>C (p.Leu2352=)
c.6949T>C (p.Leu2317=)
c.6940T>C (p.Leu2314=)
c.6901T>C (p.Leu2301=)
c.6847T>C (p.Leu2283=)
c.6751T>C (p.Leu2251=)
c.6721T>C (p.Leu2241=)
c.6646T>C (p.Leu2216=)
c.6544T>C (p.Leu2182=)
c.6175T>C (p.Leu2059=)
ClinVar dbSNP
5g.112842618T>GCA16036643APCc.7078T>G (p.Leu2360Val)
c.*7030T>G (n.*7030T>G)
c.6970T>G (p.Leu2324Val)
c.7024T>G (p.Leu2342Val)
c.*6346T>G (n.*6346T>G)
c.230+13646T>G
c.7054T>G (p.Leu2352Val)
c.6949T>G (p.Leu2317Val)
c.6940T>G (p.Leu2314Val)
c.6901T>G (p.Leu2301Val)
c.6847T>G (p.Leu2283Val)
c.6751T>G (p.Leu2251Val)
c.6721T>G (p.Leu2241Val)
c.6646T>G (p.Leu2216Val)
c.6544T>G (p.Leu2182Val)
c.6175T>G (p.Leu2059Val)
dbSNP
5g.112842619T>ACA16036644APCc.7079T>A (p.Leu2360Ter)
c.*7031T>A (n.*7031T>A)
c.6971T>A (p.Leu2324Ter)
c.7025T>A (p.Leu2342Ter)
c.*6347T>A (n.*6347T>A)
c.230+13647T>A
c.7055T>A (p.Leu2352Ter)
c.6950T>A (p.Leu2317Ter)
c.6941T>A (p.Leu2314Ter)
c.6902T>A (p.Leu2301Ter)
c.6848T>A (p.Leu2283Ter)
c.6752T>A (p.Leu2251Ter)
c.6722T>A (p.Leu2241Ter)
c.6647T>A (p.Leu2216Ter)
c.6545T>A (p.Leu2182Ter)
c.6176T>A (p.Leu2059Ter)
dbSNP
5g.112842619T>CCA16036645APCc.7079T>C (p.Leu2360Ser)
c.*7031T>C (n.*7031T>C)
c.6971T>C (p.Leu2324Ser)
c.7025T>C (p.Leu2342Ser)
c.*6347T>C (n.*6347T>C)
c.230+13647T>C
c.7055T>C (p.Leu2352Ser)
c.6950T>C (p.Leu2317Ser)
c.6941T>C (p.Leu2314Ser)
c.6902T>C (p.Leu2301Ser)
c.6848T>C (p.Leu2283Ser)
c.6752T>C (p.Leu2251Ser)
c.6722T>C (p.Leu2241Ser)
c.6647T>C (p.Leu2216Ser)
c.6545T>C (p.Leu2182Ser)
c.6176T>C (p.Leu2059Ser)
dbSNP
5g.112842619T>GCA16036646APCc.7079T>G (p.Leu2360Ter)
c.*7031T>G (n.*7031T>G)
c.6971T>G (p.Leu2324Ter)
c.7025T>G (p.Leu2342Ter)
c.*6347T>G (n.*6347T>G)
c.230+13647T>G
c.7055T>G (p.Leu2352Ter)
c.6950T>G (p.Leu2317Ter)
c.6941T>G (p.Leu2314Ter)
c.6902T>G (p.Leu2301Ter)
c.6848T>G (p.Leu2283Ter)
c.6752T>G (p.Leu2251Ter)
c.6722T>G (p.Leu2241Ter)
c.6647T>G (p.Leu2216Ter)
c.6545T>G (p.Leu2182Ter)
c.6176T>G (p.Leu2059Ter)
5g.112842620A=CA1573466118APCc.7080A= (p.Leu2360=)
c.*7032A= (n.*7032A=)
c.6972A= (p.Leu2324=)
c.7026A= (p.Leu2342=)
c.*6348A= (n.*6348A=)
c.230+13648A=
c.7056A= (p.Leu2352=)
c.6951A= (p.Leu2317=)
c.6942A= (p.Leu2314=)
c.6903A= (p.Leu2301=)
c.6849A= (p.Leu2283=)
c.6753A= (p.Leu2251=)
c.6723A= (p.Leu2241=)
c.6648A= (p.Leu2216=)
c.6546A= (p.Leu2182=)
c.6177A= (p.Leu2059=)
5g.112842620A>CCA046700APCc.7080A>C (p.Leu2360Phe)
c.*7032A>C (n.*7032A>C)
c.6972A>C (p.Leu2324Phe)
c.7026A>C (p.Leu2342Phe)
c.*6348A>C (n.*6348A>C)
c.230+13648A>C
c.7056A>C (p.Leu2352Phe)
c.6951A>C (p.Leu2317Phe)
c.6942A>C (p.Leu2314Phe)
c.6903A>C (p.Leu2301Phe)
c.6849A>C (p.Leu2283Phe)
c.6753A>C (p.Leu2251Phe)
c.6723A>C (p.Leu2241Phe)
c.6648A>C (p.Leu2216Phe)
c.6546A>C (p.Leu2182Phe)
c.6177A>C (p.Leu2059Phe)
dbSNP ExAC gnomAD v2
5g.112842620A>GCA349688APCc.7080A>G (p.Leu2360=)
c.*7032A>G (n.*7032A>G)
c.6972A>G (p.Leu2324=)
c.7026A>G (p.Leu2342=)
c.*6348A>G (n.*6348A>G)
c.230+13648A>G
c.7056A>G (p.Leu2352=)
c.6951A>G (p.Leu2317=)
c.6942A>G (p.Leu2314=)
c.6903A>G (p.Leu2301=)
c.6849A>G (p.Leu2283=)
c.6753A>G (p.Leu2251=)
c.6723A>G (p.Leu2241=)
c.6648A>G (p.Leu2216=)
c.6546A>G (p.Leu2182=)
c.6177A>G (p.Leu2059=)
ClinVar dbSNP gnomAD v4
5g.112842620A>TCA16036647APCc.7080A>T (p.Leu2360Phe)
c.*7032A>T (n.*7032A>T)
c.6972A>T (p.Leu2324Phe)
c.7026A>T (p.Leu2342Phe)
c.*6348A>T (n.*6348A>T)
c.230+13648A>T
c.7056A>T (p.Leu2352Phe)
c.6951A>T (p.Leu2317Phe)
c.6942A>T (p.Leu2314Phe)
c.6903A>T (p.Leu2301Phe)
c.6849A>T (p.Leu2283Phe)
c.6753A>T (p.Leu2251Phe)
c.6723A>T (p.Leu2241Phe)
c.6648A>T (p.Leu2216Phe)
c.6546A>T (p.Leu2182Phe)
c.6177A>T (p.Leu2059Phe)
ClinVar dbSNP gnomAD v4
5g.112842621T>ACA16036648APCc.7081T>A (p.Ser2361Thr)
c.*7033T>A (n.*7033T>A)
c.6973T>A (p.Ser2325Thr)
c.7027T>A (p.Ser2343Thr)
c.*6349T>A (n.*6349T>A)
c.230+13649T>A
c.7057T>A (p.Ser2353Thr)
c.6952T>A (p.Ser2318Thr)
c.6943T>A (p.Ser2315Thr)
c.6904T>A (p.Ser2302Thr)
c.6850T>A (p.Ser2284Thr)
c.6754T>A (p.Ser2252Thr)
c.6724T>A (p.Ser2242Thr)
c.6649T>A (p.Ser2217Thr)
c.6547T>A (p.Ser2183Thr)
c.6178T>A (p.Ser2060Thr)
dbSNP
5g.112842621T>CCA16036649APCc.7081T>C (p.Ser2361Pro)
c.*7033T>C (n.*7033T>C)
c.6973T>C (p.Ser2325Pro)
c.7027T>C (p.Ser2343Pro)
c.*6349T>C (n.*6349T>C)
c.230+13649T>C
c.7057T>C (p.Ser2353Pro)
c.6952T>C (p.Ser2318Pro)
c.6943T>C (p.Ser2315Pro)
c.6904T>C (p.Ser2302Pro)
c.6850T>C (p.Ser2284Pro)
c.6754T>C (p.Ser2252Pro)
c.6724T>C (p.Ser2242Pro)
c.6649T>C (p.Ser2217Pro)
c.6547T>C (p.Ser2183Pro)
c.6178T>C (p.Ser2060Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842621T>GCA16036650APCc.7081T>G (p.Ser2361Ala)
c.*7033T>G (n.*7033T>G)
c.6973T>G (p.Ser2325Ala)
c.7027T>G (p.Ser2343Ala)
c.*6349T>G (n.*6349T>G)
c.230+13649T>G
c.7057T>G (p.Ser2353Ala)
c.6952T>G (p.Ser2318Ala)
c.6943T>G (p.Ser2315Ala)
c.6904T>G (p.Ser2302Ala)
c.6850T>G (p.Ser2284Ala)
c.6754T>G (p.Ser2252Ala)
c.6724T>G (p.Ser2242Ala)
c.6649T>G (p.Ser2217Ala)
c.6547T>G (p.Ser2183Ala)
c.6178T>G (p.Ser2060Ala)
ClinVar dbSNP
5g.112842621T=CA1573466190APCc.7081T= (p.Ser2361=)
c.*7033T= (n.*7033T=)
c.6973T= (p.Ser2325=)
c.7027T= (p.Ser2343=)
c.*6349T= (n.*6349T=)
c.230+13649T=
c.7057T= (p.Ser2353=)
c.6952T= (p.Ser2318=)
c.6943T= (p.Ser2315=)
c.6904T= (p.Ser2302=)
c.6850T= (p.Ser2284=)
c.6754T= (p.Ser2252=)
c.6724T= (p.Ser2242=)
c.6649T= (p.Ser2217=)
c.6547T= (p.Ser2183=)
c.6178T= (p.Ser2060=)
5g.112842622C>ACA16036651APCc.7082C>A (p.Ser2361Tyr)
c.*7034C>A (n.*7034C>A)
c.6974C>A (p.Ser2325Tyr)
c.7028C>A (p.Ser2343Tyr)
c.*6350C>A (n.*6350C>A)
c.230+13650C>A
c.7058C>A (p.Ser2353Tyr)
c.6953C>A (p.Ser2318Tyr)
c.6944C>A (p.Ser2315Tyr)
c.6905C>A (p.Ser2302Tyr)
c.6851C>A (p.Ser2284Tyr)
c.6755C>A (p.Ser2252Tyr)
c.6725C>A (p.Ser2242Tyr)
c.6650C>A (p.Ser2217Tyr)
c.6548C>A (p.Ser2183Tyr)
c.6179C>A (p.Ser2060Tyr)
dbSNP
5g.112842622C=CA1573466200APCc.7082C= (p.Ser2361=)
c.*7034C= (n.*7034C=)
c.6974C= (p.Ser2325=)
c.7028C= (p.Ser2343=)
c.*6350C= (n.*6350C=)
c.230+13650C=
c.7058C= (p.Ser2353=)
c.6953C= (p.Ser2318=)
c.6944C= (p.Ser2315=)
c.6905C= (p.Ser2302=)
c.6851C= (p.Ser2284=)
c.6755C= (p.Ser2252=)
c.6725C= (p.Ser2242=)
c.6650C= (p.Ser2217=)
c.6548C= (p.Ser2183=)
c.6179C= (p.Ser2060=)
5g.112842622C>GCA16036652APCc.7082C>G (p.Ser2361Cys)
c.*7034C>G (n.*7034C>G)
c.6974C>G (p.Ser2325Cys)
c.7028C>G (p.Ser2343Cys)
c.*6350C>G (n.*6350C>G)
c.230+13650C>G
c.7058C>G (p.Ser2353Cys)
c.6953C>G (p.Ser2318Cys)
c.6944C>G (p.Ser2315Cys)
c.6905C>G (p.Ser2302Cys)
c.6851C>G (p.Ser2284Cys)
c.6755C>G (p.Ser2252Cys)
c.6725C>G (p.Ser2242Cys)
c.6650C>G (p.Ser2217Cys)
c.6548C>G (p.Ser2183Cys)
c.6179C>G (p.Ser2060Cys)
ClinVar dbSNP
5g.112842622C>TCA16036653APCc.7082C>T (p.Ser2361Phe)
c.*7034C>T (n.*7034C>T)
c.6974C>T (p.Ser2325Phe)
c.7028C>T (p.Ser2343Phe)
c.*6350C>T (n.*6350C>T)
c.230+13650C>T
c.7058C>T (p.Ser2353Phe)
c.6953C>T (p.Ser2318Phe)
c.6944C>T (p.Ser2315Phe)
c.6905C>T (p.Ser2302Phe)
c.6851C>T (p.Ser2284Phe)
c.6755C>T (p.Ser2252Phe)
c.6725C>T (p.Ser2242Phe)
c.6650C>T (p.Ser2217Phe)
c.6548C>T (p.Ser2183Phe)
c.6179C>T (p.Ser2060Phe)
ClinVar dbSNP gnomAD v4
5g.112842623T>ACA446210765APCc.7083T>A (p.Ser2361=)
c.*7035T>A (n.*7035T>A)
c.6975T>A (p.Ser2325=)
c.7029T>A (p.Ser2343=)
c.*6351T>A (n.*6351T>A)
c.230+13651T>A
c.7059T>A (p.Ser2353=)
c.6954T>A (p.Ser2318=)
c.6945T>A (p.Ser2315=)
c.6906T>A (p.Ser2302=)
c.6852T>A (p.Ser2284=)
c.6756T>A (p.Ser2252=)
c.6726T>A (p.Ser2242=)
c.6651T>A (p.Ser2217=)
c.6549T>A (p.Ser2183=)
c.6180T>A (p.Ser2060=)
dbSNP
5g.112842623T>CCA446210763APCc.7083T>C (p.Ser2361=)
c.*7035T>C (n.*7035T>C)
c.6975T>C (p.Ser2325=)
c.7029T>C (p.Ser2343=)
c.*6351T>C (n.*6351T>C)
c.230+13651T>C
c.7059T>C (p.Ser2353=)
c.6954T>C (p.Ser2318=)
c.6945T>C (p.Ser2315=)
c.6906T>C (p.Ser2302=)
c.6852T>C (p.Ser2284=)
c.6756T>C (p.Ser2252=)
c.6726T>C (p.Ser2242=)
c.6651T>C (p.Ser2217=)
c.6549T>C (p.Ser2183=)
c.6180T>C (p.Ser2060=)
dbSNP
5g.112842623T>GCA446210764APCc.7083T>G (p.Ser2361=)
c.*7035T>G (n.*7035T>G)
c.6975T>G (p.Ser2325=)
c.7029T>G (p.Ser2343=)
c.*6351T>G (n.*6351T>G)
c.230+13651T>G
c.7059T>G (p.Ser2353=)
c.6954T>G (p.Ser2318=)
c.6945T>G (p.Ser2315=)
c.6906T>G (p.Ser2302=)
c.6852T>G (p.Ser2284=)
c.6756T>G (p.Ser2252=)
c.6726T>G (p.Ser2242=)
c.6651T>G (p.Ser2217=)
c.6549T>G (p.Ser2183=)
c.6180T>G (p.Ser2060=)
5g.112842624C>ACA16036654APCc.7084C>A (p.Gln2362Lys)
c.*7036C>A (n.*7036C>A)
c.6976C>A (p.Gln2326Lys)
c.7030C>A (p.Gln2344Lys)
c.*6352C>A (n.*6352C>A)
c.230+13652C>A
c.7060C>A (p.Gln2354Lys)
c.6955C>A (p.Gln2319Lys)
c.6946C>A (p.Gln2316Lys)
c.6907C>A (p.Gln2303Lys)
c.6853C>A (p.Gln2285Lys)
c.6757C>A (p.Gln2253Lys)
c.6727C>A (p.Gln2243Lys)
c.6652C>A (p.Gln2218Lys)
c.6550C>A (p.Gln2184Lys)
c.6181C>A (p.Gln2061Lys)
dbSNP
5g.112842624C=CA1573466220APCc.7084C= (p.Gln2362=)
c.*7036C= (n.*7036C=)
c.6976C= (p.Gln2326=)
c.7030C= (p.Gln2344=)
c.*6352C= (n.*6352C=)
c.230+13652C=
c.7060C= (p.Gln2354=)
c.6955C= (p.Gln2319=)
c.6946C= (p.Gln2316=)
c.6907C= (p.Gln2303=)
c.6853C= (p.Gln2285=)
c.6757C= (p.Gln2253=)
c.6727C= (p.Gln2243=)
c.6652C= (p.Gln2218=)
c.6550C= (p.Gln2184=)
c.6181C= (p.Gln2061=)
5g.112842624C>GCA16036655APCc.7084C>G (p.Gln2362Glu)
c.*7036C>G (n.*7036C>G)
c.6976C>G (p.Gln2326Glu)
c.7030C>G (p.Gln2344Glu)
c.*6352C>G (n.*6352C>G)
c.230+13652C>G
c.7060C>G (p.Gln2354Glu)
c.6955C>G (p.Gln2319Glu)
c.6946C>G (p.Gln2316Glu)
c.6907C>G (p.Gln2303Glu)
c.6853C>G (p.Gln2285Glu)
c.6757C>G (p.Gln2253Glu)
c.6727C>G (p.Gln2243Glu)
c.6652C>G (p.Gln2218Glu)
c.6550C>G (p.Gln2184Glu)
c.6181C>G (p.Gln2061Glu)
ClinVar dbSNP COSMIC
5g.112842624C>TCA16036656APCc.7084C>T (p.Gln2362Ter)
c.*7036C>T (n.*7036C>T)
c.6976C>T (p.Gln2326Ter)
c.7030C>T (p.Gln2344Ter)
c.*6352C>T (n.*6352C>T)
c.230+13652C>T
c.7060C>T (p.Gln2354Ter)
c.6955C>T (p.Gln2319Ter)
c.6946C>T (p.Gln2316Ter)
c.6907C>T (p.Gln2303Ter)
c.6853C>T (p.Gln2285Ter)
c.6757C>T (p.Gln2253Ter)
c.6727C>T (p.Gln2243Ter)
c.6652C>T (p.Gln2218Ter)
c.6550C>T (p.Gln2184Ter)
c.6181C>T (p.Gln2061Ter)
ClinVar dbSNP
5g.112842625A>CCA16036657APCc.7085A>C (p.Gln2362Pro)
c.*7037A>C (n.*7037A>C)
c.6977A>C (p.Gln2326Pro)
c.7031A>C (p.Gln2344Pro)
c.*6353A>C (n.*6353A>C)
c.230+13653A>C
c.7061A>C (p.Gln2354Pro)
c.6956A>C (p.Gln2319Pro)
c.6947A>C (p.Gln2316Pro)
c.6908A>C (p.Gln2303Pro)
c.6854A>C (p.Gln2285Pro)
c.6758A>C (p.Gln2253Pro)
c.6728A>C (p.Gln2243Pro)
c.6653A>C (p.Gln2218Pro)
c.6551A>C (p.Gln2184Pro)
c.6182A>C (p.Gln2061Pro)
gnomAD v4
5g.112842625A>GCA16036658APCc.7085A>G (p.Gln2362Arg)
c.*7037A>G (n.*7037A>G)
c.6977A>G (p.Gln2326Arg)
c.7031A>G (p.Gln2344Arg)
c.*6353A>G (n.*6353A>G)
c.230+13653A>G
c.7061A>G (p.Gln2354Arg)
c.6956A>G (p.Gln2319Arg)
c.6947A>G (p.Gln2316Arg)
c.6908A>G (p.Gln2303Arg)
c.6854A>G (p.Gln2285Arg)
c.6758A>G (p.Gln2253Arg)
c.6728A>G (p.Gln2243Arg)
c.6653A>G (p.Gln2218Arg)
c.6551A>G (p.Gln2184Arg)
c.6182A>G (p.Gln2061Arg)
5g.112842625A>TCA16036659APCc.7085A>T (p.Gln2362Leu)
c.*7037A>T (n.*7037A>T)
c.6977A>T (p.Gln2326Leu)
c.7031A>T (p.Gln2344Leu)
c.*6353A>T (n.*6353A>T)
c.230+13653A>T
c.7061A>T (p.Gln2354Leu)
c.6956A>T (p.Gln2319Leu)
c.6947A>T (p.Gln2316Leu)
c.6908A>T (p.Gln2303Leu)
c.6854A>T (p.Gln2285Leu)
c.6758A>T (p.Gln2253Leu)
c.6728A>T (p.Gln2243Leu)
c.6653A>T (p.Gln2218Leu)
c.6551A>T (p.Gln2184Leu)
c.6182A>T (p.Gln2061Leu)
dbSNP
5g.112842626A=CA1573466230APCc.7086A= (p.Gln2362=)
c.*7038A= (n.*7038A=)
c.6978A= (p.Gln2326=)
c.7032A= (p.Gln2344=)
c.*6354A= (n.*6354A=)
c.230+13654A=
c.7062A= (p.Gln2354=)
c.6957A= (p.Gln2319=)
c.6948A= (p.Gln2316=)
c.6909A= (p.Gln2303=)
c.6855A= (p.Gln2285=)
c.6759A= (p.Gln2253=)
c.6729A= (p.Gln2243=)
c.6654A= (p.Gln2218=)
c.6552A= (p.Gln2184=)
c.6183A= (p.Gln2061=)
5g.112842626A>CCA16036660APCc.7086A>C (p.Gln2362His)
c.*7038A>C (n.*7038A>C)
c.6978A>C (p.Gln2326His)
c.7032A>C (p.Gln2344His)
c.*6354A>C (n.*6354A>C)
c.230+13654A>C
c.7062A>C (p.Gln2354His)
c.6957A>C (p.Gln2319His)
c.6948A>C (p.Gln2316His)
c.6909A>C (p.Gln2303His)
c.6855A>C (p.Gln2285His)
c.6759A>C (p.Gln2253His)
c.6729A>C (p.Gln2243His)
c.6654A>C (p.Gln2218His)
c.6552A>C (p.Gln2184His)
c.6183A>C (p.Gln2061His)
ClinVar dbSNP
5g.112842626A>GCA012751APCc.7086A>G (p.Gln2362=)
c.*7038A>G (n.*7038A>G)
c.6978A>G (p.Gln2326=)
c.7032A>G (p.Gln2344=)
c.*6354A>G (n.*6354A>G)
c.230+13654A>G
c.7062A>G (p.Gln2354=)
c.6957A>G (p.Gln2319=)
c.6948A>G (p.Gln2316=)
c.6909A>G (p.Gln2303=)
c.6855A>G (p.Gln2285=)
c.6759A>G (p.Gln2253=)
c.6729A>G (p.Gln2243=)
c.6654A>G (p.Gln2218=)
c.6552A>G (p.Gln2184=)
c.6183A>G (p.Gln2061=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842626A>TCA16036661APCc.7086A>T (p.Gln2362His)
c.*7038A>T (n.*7038A>T)
c.6978A>T (p.Gln2326His)
c.7032A>T (p.Gln2344His)
c.*6354A>T (n.*6354A>T)
c.230+13654A>T
c.7062A>T (p.Gln2354His)
c.6957A>T (p.Gln2319His)
c.6948A>T (p.Gln2316His)
c.6909A>T (p.Gln2303His)
c.6855A>T (p.Gln2285His)
c.6759A>T (p.Gln2253His)
c.6729A>T (p.Gln2243His)
c.6654A>T (p.Gln2218His)
c.6552A>T (p.Gln2184His)
c.6183A>T (p.Gln2061His)
ClinVar dbSNP
5g.112842627C>ACA16036662APCc.7087C>A (p.Leu2363Ile)
c.*7039C>A (n.*7039C>A)
c.6979C>A (p.Leu2327Ile)
c.7033C>A (p.Leu2345Ile)
c.*6355C>A (n.*6355C>A)
c.230+13655C>A
c.7063C>A (p.Leu2355Ile)
c.6958C>A (p.Leu2320Ile)
c.6949C>A (p.Leu2317Ile)
c.6910C>A (p.Leu2304Ile)
c.6856C>A (p.Leu2286Ile)
c.6760C>A (p.Leu2254Ile)
c.6730C>A (p.Leu2244Ile)
c.6655C>A (p.Leu2219Ile)
c.6553C>A (p.Leu2185Ile)
c.6184C>A (p.Leu2062Ile)
dbSNP
5g.112842627C>GCA16036663APCc.7087C>G (p.Leu2363Val)
c.*7039C>G (n.*7039C>G)
c.6979C>G (p.Leu2327Val)
c.7033C>G (p.Leu2345Val)
c.*6355C>G (n.*6355C>G)
c.230+13655C>G
c.7063C>G (p.Leu2355Val)
c.6958C>G (p.Leu2320Val)
c.6949C>G (p.Leu2317Val)
c.6910C>G (p.Leu2304Val)
c.6856C>G (p.Leu2286Val)
c.6760C>G (p.Leu2254Val)
c.6730C>G (p.Leu2244Val)
c.6655C>G (p.Leu2219Val)
c.6553C>G (p.Leu2185Val)
c.6184C>G (p.Leu2062Val)
dbSNP
5g.112842627C>TCA16036664APCc.7087C>T (p.Leu2363Phe)
c.*7039C>T (n.*7039C>T)
c.6979C>T (p.Leu2327Phe)
c.7033C>T (p.Leu2345Phe)
c.*6355C>T (n.*6355C>T)
c.230+13655C>T
c.7063C>T (p.Leu2355Phe)
c.6958C>T (p.Leu2320Phe)
c.6949C>T (p.Leu2317Phe)
c.6910C>T (p.Leu2304Phe)
c.6856C>T (p.Leu2286Phe)
c.6760C>T (p.Leu2254Phe)
c.6730C>T (p.Leu2244Phe)
c.6655C>T (p.Leu2219Phe)
c.6553C>T (p.Leu2185Phe)
c.6184C>T (p.Leu2062Phe)
dbSNP
5g.112842628T>ACA16036665APCc.7088T>A (p.Leu2363His)
c.*7040T>A (n.*7040T>A)
c.6980T>A (p.Leu2327His)
c.7034T>A (p.Leu2345His)
c.*6356T>A (n.*6356T>A)
c.230+13656T>A
c.7064T>A (p.Leu2355His)
c.6959T>A (p.Leu2320His)
c.6950T>A (p.Leu2317His)
c.6911T>A (p.Leu2304His)
c.6857T>A (p.Leu2286His)
c.6761T>A (p.Leu2254His)
c.6731T>A (p.Leu2244His)
c.6656T>A (p.Leu2219His)
c.6554T>A (p.Leu2185His)
c.6185T>A (p.Leu2062His)
dbSNP
5g.112842628T>CCA16036666APCc.7088T>C (p.Leu2363Pro)
c.*7040T>C (n.*7040T>C)
c.6980T>C (p.Leu2327Pro)
c.7034T>C (p.Leu2345Pro)
c.*6356T>C (n.*6356T>C)
c.230+13656T>C
c.7064T>C (p.Leu2355Pro)
c.6959T>C (p.Leu2320Pro)
c.6950T>C (p.Leu2317Pro)
c.6911T>C (p.Leu2304Pro)
c.6857T>C (p.Leu2286Pro)
c.6761T>C (p.Leu2254Pro)
c.6731T>C (p.Leu2244Pro)
c.6656T>C (p.Leu2219Pro)
c.6554T>C (p.Leu2185Pro)
c.6185T>C (p.Leu2062Pro)
dbSNP
5g.112842628T>GCA16036667APCc.7088T>G (p.Leu2363Arg)
c.*7040T>G (n.*7040T>G)
c.6980T>G (p.Leu2327Arg)
c.7034T>G (p.Leu2345Arg)
c.*6356T>G (n.*6356T>G)
c.230+13656T>G
c.7064T>G (p.Leu2355Arg)
c.6959T>G (p.Leu2320Arg)
c.6950T>G (p.Leu2317Arg)
c.6911T>G (p.Leu2304Arg)
c.6857T>G (p.Leu2286Arg)
c.6761T>G (p.Leu2254Arg)
c.6731T>G (p.Leu2244Arg)
c.6656T>G (p.Leu2219Arg)
c.6554T>G (p.Leu2185Arg)
c.6185T>G (p.Leu2062Arg)
5g.112842629T>ACA446210775APCc.7089T>A (p.Leu2363=)
c.*7041T>A (n.*7041T>A)
c.6981T>A (p.Leu2327=)
c.7035T>A (p.Leu2345=)
c.*6357T>A (n.*6357T>A)
c.230+13657T>A
c.7065T>A (p.Leu2355=)
c.6960T>A (p.Leu2320=)
c.6951T>A (p.Leu2317=)
c.6912T>A (p.Leu2304=)
c.6858T>A (p.Leu2286=)
c.6762T>A (p.Leu2254=)
c.6732T>A (p.Leu2244=)
c.6657T>A (p.Leu2219=)
c.6555T>A (p.Leu2185=)
c.6186T>A (p.Leu2062=)
5g.112842629T>CCA446210772APCc.7089T>C (p.Leu2363=)
c.*7041T>C (n.*7041T>C)
c.6981T>C (p.Leu2327=)
c.7035T>C (p.Leu2345=)
c.*6357T>C (n.*6357T>C)
c.230+13657T>C
c.7065T>C (p.Leu2355=)
c.6960T>C (p.Leu2320=)
c.6951T>C (p.Leu2317=)
c.6912T>C (p.Leu2304=)
c.6858T>C (p.Leu2286=)
c.6762T>C (p.Leu2254=)
c.6732T>C (p.Leu2244=)
c.6657T>C (p.Leu2219=)
c.6555T>C (p.Leu2185=)
c.6186T>C (p.Leu2062=)
5g.112842629T>GCA446210773APCc.7089T>G (p.Leu2363=)
c.*7041T>G (n.*7041T>G)
c.6981T>G (p.Leu2327=)
c.7035T>G (p.Leu2345=)
c.*6357T>G (n.*6357T>G)
c.230+13657T>G
c.7065T>G (p.Leu2355=)
c.6960T>G (p.Leu2320=)
c.6951T>G (p.Leu2317=)
c.6912T>G (p.Leu2304=)
c.6858T>G (p.Leu2286=)
c.6762T>G (p.Leu2254=)
c.6732T>G (p.Leu2244=)
c.6657T>G (p.Leu2219=)
c.6555T>G (p.Leu2185=)
c.6186T>G (p.Leu2062=)
5g.112842630C>ACA16036668APCc.7090C>A (p.Pro2364Thr)
c.*7042C>A (n.*7042C>A)
c.6982C>A (p.Pro2328Thr)
c.7036C>A (p.Pro2346Thr)
c.*6358C>A (n.*6358C>A)
c.230+13658C>A
c.7066C>A (p.Pro2356Thr)
c.6961C>A (p.Pro2321Thr)
c.6952C>A (p.Pro2318Thr)
c.6913C>A (p.Pro2305Thr)
c.6859C>A (p.Pro2287Thr)
c.6763C>A (p.Pro2255Thr)
c.6733C>A (p.Pro2245Thr)
c.6658C>A (p.Pro2220Thr)
c.6556C>A (p.Pro2186Thr)
c.6187C>A (p.Pro2063Thr)
5g.112842630C=CA1573466250APCc.7090C= (p.Pro2364=)
c.*7042C= (n.*7042C=)
c.6982C= (p.Pro2328=)
c.7036C= (p.Pro2346=)
c.*6358C= (n.*6358C=)
c.230+13658C=
c.7066C= (p.Pro2356=)
c.6961C= (p.Pro2321=)
c.6952C= (p.Pro2318=)
c.6913C= (p.Pro2305=)
c.6859C= (p.Pro2287=)
c.6763C= (p.Pro2255=)
c.6733C= (p.Pro2245=)
c.6658C= (p.Pro2220=)
c.6556C= (p.Pro2186=)
c.6187C= (p.Pro2063=)
5g.112842630C>GCA16036669APCc.7090C>G (p.Pro2364Ala)
c.*7042C>G (n.*7042C>G)
c.6982C>G (p.Pro2328Ala)
c.7036C>G (p.Pro2346Ala)
c.*6358C>G (n.*6358C>G)
c.230+13658C>G
c.7066C>G (p.Pro2356Ala)
c.6961C>G (p.Pro2321Ala)
c.6952C>G (p.Pro2318Ala)
c.6913C>G (p.Pro2305Ala)
c.6859C>G (p.Pro2287Ala)
c.6763C>G (p.Pro2255Ala)
c.6733C>G (p.Pro2245Ala)
c.6658C>G (p.Pro2220Ala)
c.6556C>G (p.Pro2186Ala)
c.6187C>G (p.Pro2063Ala)
gnomAD v4
5g.112842630C>TCA012759APCc.7090C>T (p.Pro2364Ser)
c.*7042C>T (n.*7042C>T)
c.6982C>T (p.Pro2328Ser)
c.7036C>T (p.Pro2346Ser)
c.*6358C>T (n.*6358C>T)
c.230+13658C>T
c.7066C>T (p.Pro2356Ser)
c.6961C>T (p.Pro2321Ser)
c.6952C>T (p.Pro2318Ser)
c.6913C>T (p.Pro2305Ser)
c.6859C>T (p.Pro2287Ser)
c.6763C>T (p.Pro2255Ser)
c.6733C>T (p.Pro2245Ser)
c.6658C>T (p.Pro2220Ser)
c.6556C>T (p.Pro2186Ser)
c.6187C>T (p.Pro2063Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842631C>ACA16036670APCc.7091C>A (p.Pro2364Gln)
c.*7043C>A (n.*7043C>A)
c.6983C>A (p.Pro2328Gln)
c.7037C>A (p.Pro2346Gln)
c.*6359C>A (n.*6359C>A)
c.230+13659C>A
c.7067C>A (p.Pro2356Gln)
c.6962C>A (p.Pro2321Gln)
c.6953C>A (p.Pro2318Gln)
c.6914C>A (p.Pro2305Gln)
c.6860C>A (p.Pro2287Gln)
c.6764C>A (p.Pro2255Gln)
c.6734C>A (p.Pro2245Gln)
c.6659C>A (p.Pro2220Gln)
c.6557C>A (p.Pro2186Gln)
c.6188C>A (p.Pro2063Gln)
dbSNP gnomAD v4
5g.112842631C>GCA16036671APCc.7091C>G (p.Pro2364Arg)
c.*7043C>G (n.*7043C>G)
c.6983C>G (p.Pro2328Arg)
c.7037C>G (p.Pro2346Arg)
c.*6359C>G (n.*6359C>G)
c.230+13659C>G
c.7067C>G (p.Pro2356Arg)
c.6962C>G (p.Pro2321Arg)
c.6953C>G (p.Pro2318Arg)
c.6914C>G (p.Pro2305Arg)
c.6860C>G (p.Pro2287Arg)
c.6764C>G (p.Pro2255Arg)
c.6734C>G (p.Pro2245Arg)
c.6659C>G (p.Pro2220Arg)
c.6557C>G (p.Pro2186Arg)
c.6188C>G (p.Pro2063Arg)
ClinVar
5g.112842631C>TCA16036672APCc.7091C>T (p.Pro2364Leu)
c.*7043C>T (n.*7043C>T)
c.6983C>T (p.Pro2328Leu)
c.7037C>T (p.Pro2346Leu)
c.*6359C>T (n.*6359C>T)
c.230+13659C>T
c.7067C>T (p.Pro2356Leu)
c.6962C>T (p.Pro2321Leu)
c.6953C>T (p.Pro2318Leu)
c.6914C>T (p.Pro2305Leu)
c.6860C>T (p.Pro2287Leu)
c.6764C>T (p.Pro2255Leu)
c.6734C>T (p.Pro2245Leu)
c.6659C>T (p.Pro2220Leu)
c.6557C>T (p.Pro2186Leu)
c.6188C>T (p.Pro2063Leu)
ClinVar dbSNP gnomAD v4
5g.112842632A=CA1573466265APCc.7092A= (p.Pro2364=)
c.*7044A= (n.*7044A=)
c.6984A= (p.Pro2328=)
c.7038A= (p.Pro2346=)
c.*6360A= (n.*6360A=)
c.230+13660A=
c.7068A= (p.Pro2356=)
c.6963A= (p.Pro2321=)
c.6954A= (p.Pro2318=)
c.6915A= (p.Pro2305=)
c.6861A= (p.Pro2287=)
c.6765A= (p.Pro2255=)
c.6735A= (p.Pro2245=)
c.6660A= (p.Pro2220=)
c.6558A= (p.Pro2186=)
c.6189A= (p.Pro2063=)
5g.112842632A>CCA446210778APCc.7092A>C (p.Pro2364=)
c.*7044A>C (n.*7044A>C)
c.6984A>C (p.Pro2328=)
c.7038A>C (p.Pro2346=)
c.*6360A>C (n.*6360A>C)
c.230+13660A>C
c.7068A>C (p.Pro2356=)
c.6963A>C (p.Pro2321=)
c.6954A>C (p.Pro2318=)
c.6915A>C (p.Pro2305=)
c.6861A>C (p.Pro2287=)
c.6765A>C (p.Pro2255=)
c.6735A>C (p.Pro2245=)
c.6660A>C (p.Pro2220=)
c.6558A>C (p.Pro2186=)
c.6189A>C (p.Pro2063=)
dbSNP
5g.112842632A>GCA446210779APCc.7092A>G (p.Pro2364=)
c.*7044A>G (n.*7044A>G)
c.6984A>G (p.Pro2328=)
c.7038A>G (p.Pro2346=)
c.*6360A>G (n.*6360A>G)
c.230+13660A>G
c.7068A>G (p.Pro2356=)
c.6963A>G (p.Pro2321=)
c.6954A>G (p.Pro2318=)
c.6915A>G (p.Pro2305=)
c.6861A>G (p.Pro2287=)
c.6765A>G (p.Pro2255=)
c.6735A>G (p.Pro2245=)
c.6660A>G (p.Pro2220=)
c.6558A>G (p.Pro2186=)
c.6189A>G (p.Pro2063=)
ClinVar dbSNP
5g.112842632A>TCA446210780APCc.7092A>T (p.Pro2364=)
c.*7044A>T (n.*7044A>T)
c.6984A>T (p.Pro2328=)
c.7038A>T (p.Pro2346=)
c.*6360A>T (n.*6360A>T)
c.230+13660A>T
c.7068A>T (p.Pro2356=)
c.6963A>T (p.Pro2321=)
c.6954A>T (p.Pro2318=)
c.6915A>T (p.Pro2305=)
c.6861A>T (p.Pro2287=)
c.6765A>T (p.Pro2255=)
c.6735A>T (p.Pro2245=)
c.6660A>T (p.Pro2220=)
c.6558A>T (p.Pro2186=)
c.6189A>T (p.Pro2063=)
ClinVar dbSNP
5g.112842633A=CA1573466303APCc.7093A= (p.Arg2365=)
c.*7045A= (n.*7045A=)
c.6985A= (p.Arg2329=)
c.7039A= (p.Arg2347=)
c.*6361A= (n.*6361A=)
c.230+13661A=
c.7069A= (p.Arg2357=)
c.6964A= (p.Arg2322=)
c.6955A= (p.Arg2319=)
c.6916A= (p.Arg2306=)
c.6862A= (p.Arg2288=)
c.6766A= (p.Arg2256=)
c.6736A= (p.Arg2246=)
c.6661A= (p.Arg2221=)
c.6559A= (p.Arg2187=)
c.6190A= (p.Arg2064=)
5g.112842633A>CCA446210781APCc.7093A>C (p.Arg2365=)
c.*7045A>C (n.*7045A>C)
c.6985A>C (p.Arg2329=)
c.7039A>C (p.Arg2347=)
c.*6361A>C (n.*6361A>C)
c.230+13661A>C
c.7069A>C (p.Arg2357=)
c.6964A>C (p.Arg2322=)
c.6955A>C (p.Arg2319=)
c.6916A>C (p.Arg2306=)
c.6862A>C (p.Arg2288=)
c.6766A>C (p.Arg2256=)
c.6736A>C (p.Arg2246=)
c.6661A>C (p.Arg2221=)
c.6559A>C (p.Arg2187=)
c.6190A>C (p.Arg2064=)
ClinVar
5g.112842633A>GCA012767APCc.7093A>G (p.Arg2365Gly)
c.*7045A>G (n.*7045A>G)
c.6985A>G (p.Arg2329Gly)
c.7039A>G (p.Arg2347Gly)
c.*6361A>G (n.*6361A>G)
c.230+13661A>G
c.7069A>G (p.Arg2357Gly)
c.6964A>G (p.Arg2322Gly)
c.6955A>G (p.Arg2319Gly)
c.6916A>G (p.Arg2306Gly)
c.6862A>G (p.Arg2288Gly)
c.6766A>G (p.Arg2256Gly)
c.6736A>G (p.Arg2246Gly)
c.6661A>G (p.Arg2221Gly)
c.6559A>G (p.Arg2187Gly)
c.6190A>G (p.Arg2064Gly)
ClinVar dbSNP
5g.112842633A>TCA16036673APCc.7093A>T (p.Arg2365Trp)
c.*7045A>T (n.*7045A>T)
c.6985A>T (p.Arg2329Trp)
c.7039A>T (p.Arg2347Trp)
c.*6361A>T (n.*6361A>T)
c.230+13661A>T
c.7069A>T (p.Arg2357Trp)
c.6964A>T (p.Arg2322Trp)
c.6955A>T (p.Arg2319Trp)
c.6916A>T (p.Arg2306Trp)
c.6862A>T (p.Arg2288Trp)
c.6766A>T (p.Arg2256Trp)
c.6736A>T (p.Arg2246Trp)
c.6661A>T (p.Arg2221Trp)
c.6559A>T (p.Arg2187Trp)
c.6190A>T (p.Arg2064Trp)
5g.112842634G>ACA16036674APCc.7094G>A (p.Arg2365Lys)
c.*7046G>A (n.*7046G>A)
c.6986G>A (p.Arg2329Lys)
c.7040G>A (p.Arg2347Lys)
c.*6362G>A (n.*6362G>A)
c.230+13662G>A
c.7070G>A (p.Arg2357Lys)
c.6965G>A (p.Arg2322Lys)
c.6956G>A (p.Arg2319Lys)
c.6917G>A (p.Arg2306Lys)
c.6863G>A (p.Arg2288Lys)
c.6767G>A (p.Arg2256Lys)
c.6737G>A (p.Arg2246Lys)
c.6662G>A (p.Arg2221Lys)
c.6560G>A (p.Arg2187Lys)
c.6191G>A (p.Arg2064Lys)
5g.112842634G>CCA16036675APCc.7094G>C (p.Arg2365Thr)
c.*7046G>C (n.*7046G>C)
c.6986G>C (p.Arg2329Thr)
c.7040G>C (p.Arg2347Thr)
c.*6362G>C (n.*6362G>C)
c.230+13662G>C
c.7070G>C (p.Arg2357Thr)
c.6965G>C (p.Arg2322Thr)
c.6956G>C (p.Arg2319Thr)
c.6917G>C (p.Arg2306Thr)
c.6863G>C (p.Arg2288Thr)
c.6767G>C (p.Arg2256Thr)
c.6737G>C (p.Arg2246Thr)
c.6662G>C (p.Arg2221Thr)
c.6560G>C (p.Arg2187Thr)
c.6191G>C (p.Arg2064Thr)
5g.112842634G>TCA16036676APCc.7094G>T (p.Arg2365Met)
c.*7046G>T (n.*7046G>T)
c.6986G>T (p.Arg2329Met)
c.7040G>T (p.Arg2347Met)
c.*6362G>T (n.*6362G>T)
c.230+13662G>T
c.7070G>T (p.Arg2357Met)
c.6965G>T (p.Arg2322Met)
c.6956G>T (p.Arg2319Met)
c.6917G>T (p.Arg2306Met)
c.6863G>T (p.Arg2288Met)
c.6767G>T (p.Arg2256Met)
c.6737G>T (p.Arg2246Met)
c.6662G>T (p.Arg2221Met)
c.6560G>T (p.Arg2187Met)
c.6191G>T (p.Arg2064Met)
gnomAD v4
5g.112842635G>ACA446210783APCc.7095G>A (p.Arg2365=)
c.*7047G>A (n.*7047G>A)
c.6987G>A (p.Arg2329=)
c.7041G>A (p.Arg2347=)
c.*6363G>A (n.*6363G>A)
c.230+13663G>A
c.7071G>A (p.Arg2357=)
c.6966G>A (p.Arg2322=)
c.6957G>A (p.Arg2319=)
c.6918G>A (p.Arg2306=)
c.6864G>A (p.Arg2288=)
c.6768G>A (p.Arg2256=)
c.6738G>A (p.Arg2246=)
c.6663G>A (p.Arg2221=)
c.6561G>A (p.Arg2187=)
c.6192G>A (p.Arg2064=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842635G>CCA16036677APCc.7095G>C (p.Arg2365Ser)
c.*7047G>C (n.*7047G>C)
c.6987G>C (p.Arg2329Ser)
c.7041G>C (p.Arg2347Ser)
c.*6363G>C (n.*6363G>C)
c.230+13663G>C
c.7071G>C (p.Arg2357Ser)
c.6966G>C (p.Arg2322Ser)
c.6957G>C (p.Arg2319Ser)
c.6918G>C (p.Arg2306Ser)
c.6864G>C (p.Arg2288Ser)
c.6768G>C (p.Arg2256Ser)
c.6738G>C (p.Arg2246Ser)
c.6663G>C (p.Arg2221Ser)
c.6561G>C (p.Arg2187Ser)
c.6192G>C (p.Arg2064Ser)
dbSNP
5g.112842635G=CA1573466317APCc.7095G= (p.Arg2365=)
c.*7047G= (n.*7047G=)
c.6987G= (p.Arg2329=)
c.7041G= (p.Arg2347=)
c.*6363G= (n.*6363G=)
c.230+13663G=
c.7071G= (p.Arg2357=)
c.6966G= (p.Arg2322=)
c.6957G= (p.Arg2319=)
c.6918G= (p.Arg2306=)
c.6864G= (p.Arg2288=)
c.6768G= (p.Arg2256=)
c.6738G= (p.Arg2246=)
c.6663G= (p.Arg2221=)
c.6561G= (p.Arg2187=)
c.6192G= (p.Arg2064=)
5g.112842635G>TCA16036678APCc.7095G>T (p.Arg2365Ser)
c.*7047G>T (n.*7047G>T)
c.6987G>T (p.Arg2329Ser)
c.7041G>T (p.Arg2347Ser)
c.*6363G>T (n.*6363G>T)
c.230+13663G>T
c.7071G>T (p.Arg2357Ser)
c.6966G>T (p.Arg2322Ser)
c.6957G>T (p.Arg2319Ser)
c.6918G>T (p.Arg2306Ser)
c.6864G>T (p.Arg2288Ser)
c.6768G>T (p.Arg2256Ser)
c.6738G>T (p.Arg2246Ser)
c.6663G>T (p.Arg2221Ser)
c.6561G>T (p.Arg2187Ser)
c.6192G>T (p.Arg2064Ser)
dbSNP
5g.112842636A>CCA16036679APCc.7096A>C (p.Thr2366Pro)
c.*7048A>C (n.*7048A>C)
c.6988A>C (p.Thr2330Pro)
c.7042A>C (p.Thr2348Pro)
c.*6364A>C (n.*6364A>C)
c.230+13664A>C
c.7072A>C (p.Thr2358Pro)
c.6967A>C (p.Thr2323Pro)
c.6958A>C (p.Thr2320Pro)
c.6919A>C (p.Thr2307Pro)
c.6865A>C (p.Thr2289Pro)
c.6769A>C (p.Thr2257Pro)
c.6739A>C (p.Thr2247Pro)
c.6664A>C (p.Thr2222Pro)
c.6562A>C (p.Thr2188Pro)
c.6193A>C (p.Thr2065Pro)
dbSNP
5g.112842636A>GCA16036680APCc.7096A>G (p.Thr2366Ala)
c.*7048A>G (n.*7048A>G)
c.6988A>G (p.Thr2330Ala)
c.7042A>G (p.Thr2348Ala)
c.*6364A>G (n.*6364A>G)
c.230+13664A>G
c.7072A>G (p.Thr2358Ala)
c.6967A>G (p.Thr2323Ala)
c.6958A>G (p.Thr2320Ala)
c.6919A>G (p.Thr2307Ala)
c.6865A>G (p.Thr2289Ala)
c.6769A>G (p.Thr2257Ala)
c.6739A>G (p.Thr2247Ala)
c.6664A>G (p.Thr2222Ala)
c.6562A>G (p.Thr2188Ala)
c.6193A>G (p.Thr2065Ala)
dbSNP COSMIC
5g.112842636A>TCA16036681APCc.7096A>T (p.Thr2366Ser)
c.*7048A>T (n.*7048A>T)
c.6988A>T (p.Thr2330Ser)
c.7042A>T (p.Thr2348Ser)
c.*6364A>T (n.*6364A>T)
c.230+13664A>T
c.7072A>T (p.Thr2358Ser)
c.6967A>T (p.Thr2323Ser)
c.6958A>T (p.Thr2320Ser)
c.6919A>T (p.Thr2307Ser)
c.6865A>T (p.Thr2289Ser)
c.6769A>T (p.Thr2257Ser)
c.6739A>T (p.Thr2247Ser)
c.6664A>T (p.Thr2222Ser)
c.6562A>T (p.Thr2188Ser)
c.6193A>T (p.Thr2065Ser)
ClinVar
5g.112842637C>ACA16036682APCc.7097C>A (p.Thr2366Lys)
c.*7049C>A (n.*7049C>A)
c.6989C>A (p.Thr2330Lys)
c.7043C>A (p.Thr2348Lys)
c.*6365C>A (n.*6365C>A)
c.230+13665C>A
c.7073C>A (p.Thr2358Lys)
c.6968C>A (p.Thr2323Lys)
c.6959C>A (p.Thr2320Lys)
c.6920C>A (p.Thr2307Lys)
c.6866C>A (p.Thr2289Lys)
c.6770C>A (p.Thr2257Lys)
c.6740C>A (p.Thr2247Lys)
c.6665C>A (p.Thr2222Lys)
c.6563C>A (p.Thr2188Lys)
c.6194C>A (p.Thr2065Lys)
dbSNP
5g.112842637C=CA1573466338APCc.7097C= (p.Thr2366=)
c.*7049C= (n.*7049C=)
c.6989C= (p.Thr2330=)
c.7043C= (p.Thr2348=)
c.*6365C= (n.*6365C=)
c.230+13665C=
c.7073C= (p.Thr2358=)
c.6968C= (p.Thr2323=)
c.6959C= (p.Thr2320=)
c.6920C= (p.Thr2307=)
c.6866C= (p.Thr2289=)
c.6770C= (p.Thr2257=)
c.6740C= (p.Thr2247=)
c.6665C= (p.Thr2222=)
c.6563C= (p.Thr2188=)
c.6194C= (p.Thr2065=)
5g.112842637C>GCA16036683APCc.7097C>G (p.Thr2366Arg)
c.*7049C>G (n.*7049C>G)
c.6989C>G (p.Thr2330Arg)
c.7043C>G (p.Thr2348Arg)
c.*6365C>G (n.*6365C>G)
c.230+13665C>G
c.7073C>G (p.Thr2358Arg)
c.6968C>G (p.Thr2323Arg)
c.6959C>G (p.Thr2320Arg)
c.6920C>G (p.Thr2307Arg)
c.6866C>G (p.Thr2289Arg)
c.6770C>G (p.Thr2257Arg)
c.6740C>G (p.Thr2247Arg)
c.6665C>G (p.Thr2222Arg)
c.6563C>G (p.Thr2188Arg)
c.6194C>G (p.Thr2065Arg)
ClinVar dbSNP
5g.112842637C>TCA16036684APCc.7097C>T (p.Thr2366Ile)
c.*7049C>T (n.*7049C>T)
c.6989C>T (p.Thr2330Ile)
c.7043C>T (p.Thr2348Ile)
c.*6365C>T (n.*6365C>T)
c.230+13665C>T
c.7073C>T (p.Thr2358Ile)
c.6968C>T (p.Thr2323Ile)
c.6959C>T (p.Thr2320Ile)
c.6920C>T (p.Thr2307Ile)
c.6866C>T (p.Thr2289Ile)
c.6770C>T (p.Thr2257Ile)
c.6740C>T (p.Thr2247Ile)
c.6665C>T (p.Thr2222Ile)
c.6563C>T (p.Thr2188Ile)
c.6194C>T (p.Thr2065Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842638A=CA1573466348APCc.7098A= (p.Thr2366=)
c.*7050A= (n.*7050A=)
c.6990A= (p.Thr2330=)
c.7044A= (p.Thr2348=)
c.*6366A= (n.*6366A=)
c.230+13666A=
c.7074A= (p.Thr2358=)
c.6969A= (p.Thr2323=)
c.6960A= (p.Thr2320=)
c.6921A= (p.Thr2307=)
c.6867A= (p.Thr2289=)
c.6771A= (p.Thr2257=)
c.6741A= (p.Thr2247=)
c.6666A= (p.Thr2222=)
c.6564A= (p.Thr2188=)
c.6195A= (p.Thr2065=)
5g.112842638A>CCA446210784APCc.7098A>C (p.Thr2366=)
c.*7050A>C (n.*7050A>C)
c.6990A>C (p.Thr2330=)
c.7044A>C (p.Thr2348=)
c.*6366A>C (n.*6366A>C)
c.230+13666A>C
c.7074A>C (p.Thr2358=)
c.6969A>C (p.Thr2323=)
c.6960A>C (p.Thr2320=)
c.6921A>C (p.Thr2307=)
c.6867A>C (p.Thr2289=)
c.6771A>C (p.Thr2257=)
c.6741A>C (p.Thr2247=)
c.6666A>C (p.Thr2222=)
c.6564A>C (p.Thr2188=)
c.6195A>C (p.Thr2065=)
dbSNP
5g.112842638A>GCA16605193APCc.7098A>G (p.Thr2366=)
c.*7050A>G (n.*7050A>G)
c.6990A>G (p.Thr2330=)
c.7044A>G (p.Thr2348=)
c.*6366A>G (n.*6366A>G)
c.230+13666A>G
c.7074A>G (p.Thr2358=)
c.6969A>G (p.Thr2323=)
c.6960A>G (p.Thr2320=)
c.6921A>G (p.Thr2307=)
c.6867A>G (p.Thr2289=)
c.6771A>G (p.Thr2257=)
c.6741A>G (p.Thr2247=)
c.6666A>G (p.Thr2222=)
c.6564A>G (p.Thr2188=)
c.6195A>G (p.Thr2065=)
ClinVar dbSNP gnomAD v4
5g.112842638A>TCA446210785APCc.7098A>T (p.Thr2366=)
c.*7050A>T (n.*7050A>T)
c.6990A>T (p.Thr2330=)
c.7044A>T (p.Thr2348=)
c.*6366A>T (n.*6366A>T)
c.230+13666A>T
c.7074A>T (p.Thr2358=)
c.6969A>T (p.Thr2323=)
c.6960A>T (p.Thr2320=)
c.6921A>T (p.Thr2307=)
c.6867A>T (p.Thr2289=)
c.6771A>T (p.Thr2257=)
c.6741A>T (p.Thr2247=)
c.6666A>T (p.Thr2222=)
c.6564A>T (p.Thr2188=)
c.6195A>T (p.Thr2065=)
dbSNP
5g.112842639T>ACA16036685APCc.7099T>A (p.Ser2367Thr)
c.*7051T>A (n.*7051T>A)
c.6991T>A (p.Ser2331Thr)
c.7045T>A (p.Ser2349Thr)
c.*6367T>A (n.*6367T>A)
c.230+13667T>A
c.7075T>A (p.Ser2359Thr)
c.6970T>A (p.Ser2324Thr)
c.6961T>A (p.Ser2321Thr)
c.6922T>A (p.Ser2308Thr)
c.6868T>A (p.Ser2290Thr)
c.6772T>A (p.Ser2258Thr)
c.6742T>A (p.Ser2248Thr)
c.6667T>A (p.Ser2223Thr)
c.6565T>A (p.Ser2189Thr)
c.6196T>A (p.Ser2066Thr)
dbSNP gnomAD v4
5g.112842639T>CCA16036686APCc.7099T>C (p.Ser2367Pro)
c.*7051T>C (n.*7051T>C)
c.6991T>C (p.Ser2331Pro)
c.7045T>C (p.Ser2349Pro)
c.*6367T>C (n.*6367T>C)
c.230+13667T>C
c.7075T>C (p.Ser2359Pro)
c.6970T>C (p.Ser2324Pro)
c.6961T>C (p.Ser2321Pro)
c.6922T>C (p.Ser2308Pro)
c.6868T>C (p.Ser2290Pro)
c.6772T>C (p.Ser2258Pro)
c.6742T>C (p.Ser2248Pro)
c.6667T>C (p.Ser2223Pro)
c.6565T>C (p.Ser2189Pro)
c.6196T>C (p.Ser2066Pro)
dbSNP
5g.112842639T>GCA16036687APCc.7099T>G (p.Ser2367Ala)
c.*7051T>G (n.*7051T>G)
c.6991T>G (p.Ser2331Ala)
c.7045T>G (p.Ser2349Ala)
c.*6367T>G (n.*6367T>G)
c.230+13667T>G
c.7075T>G (p.Ser2359Ala)
c.6970T>G (p.Ser2324Ala)
c.6961T>G (p.Ser2321Ala)
c.6922T>G (p.Ser2308Ala)
c.6868T>G (p.Ser2290Ala)
c.6772T>G (p.Ser2258Ala)
c.6742T>G (p.Ser2248Ala)
c.6667T>G (p.Ser2223Ala)
c.6565T>G (p.Ser2189Ala)
c.6196T>G (p.Ser2066Ala)
5g.112842640C>ACA16036688APCc.7100C>A (p.Ser2367Ter)
c.*7052C>A (n.*7052C>A)
c.6992C>A (p.Ser2331Ter)
c.7046C>A (p.Ser2349Ter)
c.*6368C>A (n.*6368C>A)
c.230+13668C>A
c.7076C>A (p.Ser2359Ter)
c.6971C>A (p.Ser2324Ter)
c.6962C>A (p.Ser2321Ter)
c.6923C>A (p.Ser2308Ter)
c.6869C>A (p.Ser2290Ter)
c.6773C>A (p.Ser2258Ter)
c.6743C>A (p.Ser2248Ter)
c.6668C>A (p.Ser2223Ter)
c.6566C>A (p.Ser2189Ter)
c.6197C>A (p.Ser2066Ter)
dbSNP
5g.112842640C>GCA16036689APCc.7100C>G (p.Ser2367Ter)
c.*7052C>G (n.*7052C>G)
c.6992C>G (p.Ser2331Ter)
c.7046C>G (p.Ser2349Ter)
c.*6368C>G (n.*6368C>G)
c.230+13668C>G
c.7076C>G (p.Ser2359Ter)
c.6971C>G (p.Ser2324Ter)
c.6962C>G (p.Ser2321Ter)
c.6923C>G (p.Ser2308Ter)
c.6869C>G (p.Ser2290Ter)
c.6773C>G (p.Ser2258Ter)
c.6743C>G (p.Ser2248Ter)
c.6668C>G (p.Ser2223Ter)
c.6566C>G (p.Ser2189Ter)
c.6197C>G (p.Ser2066Ter)
dbSNP gnomAD v4
5g.112842640C>TCA16036690APCc.7100C>T (p.Ser2367Leu)
c.*7052C>T (n.*7052C>T)
c.6992C>T (p.Ser2331Leu)
c.7046C>T (p.Ser2349Leu)
c.*6368C>T (n.*6368C>T)
c.230+13668C>T
c.7076C>T (p.Ser2359Leu)
c.6971C>T (p.Ser2324Leu)
c.6962C>T (p.Ser2321Leu)
c.6923C>T (p.Ser2308Leu)
c.6869C>T (p.Ser2290Leu)
c.6773C>T (p.Ser2258Leu)
c.6743C>T (p.Ser2248Leu)
c.6668C>T (p.Ser2223Leu)
c.6566C>T (p.Ser2189Leu)
c.6197C>T (p.Ser2066Leu)
dbSNP
5g.112842641A=CA1573466356APCc.7101A= (p.Ser2367=)
c.*7053A= (n.*7053A=)
c.6993A= (p.Ser2331=)
c.7047A= (p.Ser2349=)
c.*6369A= (n.*6369A=)
c.230+13669A=
c.7077A= (p.Ser2359=)
c.6972A= (p.Ser2324=)
c.6963A= (p.Ser2321=)
c.6924A= (p.Ser2308=)
c.6870A= (p.Ser2290=)
c.6774A= (p.Ser2258=)
c.6744A= (p.Ser2248=)
c.6669A= (p.Ser2223=)
c.6567A= (p.Ser2189=)
c.6198A= (p.Ser2066=)
5g.112842641A>CCA446210788APCc.7101A>C (p.Ser2367=)
c.*7053A>C (n.*7053A>C)
c.6993A>C (p.Ser2331=)
c.7047A>C (p.Ser2349=)
c.*6369A>C (n.*6369A>C)
c.230+13669A>C
c.7077A>C (p.Ser2359=)
c.6972A>C (p.Ser2324=)
c.6963A>C (p.Ser2321=)
c.6924A>C (p.Ser2308=)
c.6870A>C (p.Ser2290=)
c.6774A>C (p.Ser2258=)
c.6744A>C (p.Ser2248=)
c.6669A>C (p.Ser2223=)
c.6567A>C (p.Ser2189=)
c.6198A>C (p.Ser2066=)
dbSNP
5g.112842641A>GCA446210790APCc.7101A>G (p.Ser2367=)
c.*7053A>G (n.*7053A>G)
c.6993A>G (p.Ser2331=)
c.7047A>G (p.Ser2349=)
c.*6369A>G (n.*6369A>G)
c.230+13669A>G
c.7077A>G (p.Ser2359=)
c.6972A>G (p.Ser2324=)
c.6963A>G (p.Ser2321=)
c.6924A>G (p.Ser2308=)
c.6870A>G (p.Ser2290=)
c.6774A>G (p.Ser2258=)
c.6744A>G (p.Ser2248=)
c.6669A>G (p.Ser2223=)
c.6567A>G (p.Ser2189=)
c.6198A>G (p.Ser2066=)
dbSNP gnomAD v3 gnomAD v4
5g.112842641A>TCA446210792APCc.7101A>T (p.Ser2367=)
c.*7053A>T (n.*7053A>T)
c.6993A>T (p.Ser2331=)
c.7047A>T (p.Ser2349=)
c.*6369A>T (n.*6369A>T)
c.230+13669A>T
c.7077A>T (p.Ser2359=)
c.6972A>T (p.Ser2324=)
c.6963A>T (p.Ser2321=)
c.6924A>T (p.Ser2308=)
c.6870A>T (p.Ser2290=)
c.6774A>T (p.Ser2258=)
c.6744A>T (p.Ser2248=)
c.6669A>T (p.Ser2223=)
c.6567A>T (p.Ser2189=)
c.6198A>T (p.Ser2066=)
ClinVar dbSNP
5g.112842642T>ACA16036691APCc.7102T>A (p.Ser2368Thr)
c.*7054T>A (n.*7054T>A)
c.6994T>A (p.Ser2332Thr)
c.7048T>A (p.Ser2350Thr)
c.*6370T>A (n.*6370T>A)
c.230+13670T>A
c.7078T>A (p.Ser2360Thr)
c.6973T>A (p.Ser2325Thr)
c.6964T>A (p.Ser2322Thr)
c.6925T>A (p.Ser2309Thr)
c.6871T>A (p.Ser2291Thr)
c.6775T>A (p.Ser2259Thr)
c.6745T>A (p.Ser2249Thr)
c.6670T>A (p.Ser2224Thr)
c.6568T>A (p.Ser2190Thr)
c.6199T>A (p.Ser2067Thr)
ClinVar dbSNP gnomAD v4
5g.112842642T>CCA16036692APCc.7102T>C (p.Ser2368Pro)
c.*7054T>C (n.*7054T>C)
c.6994T>C (p.Ser2332Pro)
c.7048T>C (p.Ser2350Pro)
c.*6370T>C (n.*6370T>C)
c.230+13670T>C
c.7078T>C (p.Ser2360Pro)
c.6973T>C (p.Ser2325Pro)
c.6964T>C (p.Ser2322Pro)
c.6925T>C (p.Ser2309Pro)
c.6871T>C (p.Ser2291Pro)
c.6775T>C (p.Ser2259Pro)
c.6745T>C (p.Ser2249Pro)
c.6670T>C (p.Ser2224Pro)
c.6568T>C (p.Ser2190Pro)
c.6199T>C (p.Ser2067Pro)
5g.112842642T>GCA16036693APCc.7102T>G (p.Ser2368Ala)
c.*7054T>G (n.*7054T>G)
c.6994T>G (p.Ser2332Ala)
c.7048T>G (p.Ser2350Ala)
c.*6370T>G (n.*6370T>G)
c.230+13670T>G
c.7078T>G (p.Ser2360Ala)
c.6973T>G (p.Ser2325Ala)
c.6964T>G (p.Ser2322Ala)
c.6925T>G (p.Ser2309Ala)
c.6871T>G (p.Ser2291Ala)
c.6775T>G (p.Ser2259Ala)
c.6745T>G (p.Ser2249Ala)
c.6670T>G (p.Ser2224Ala)
c.6568T>G (p.Ser2190Ala)
c.6199T>G (p.Ser2067Ala)
5g.112842642T=CA1573466377APCc.7102T= (p.Ser2368=)
c.*7054T= (n.*7054T=)
c.6994T= (p.Ser2332=)
c.7048T= (p.Ser2350=)
c.*6370T= (n.*6370T=)
c.230+13670T=
c.7078T= (p.Ser2360=)
c.6973T= (p.Ser2325=)
c.6964T= (p.Ser2322=)
c.6925T= (p.Ser2309=)
c.6871T= (p.Ser2291=)
c.6775T= (p.Ser2259=)
c.6745T= (p.Ser2249=)
c.6670T= (p.Ser2224=)
c.6568T= (p.Ser2190=)
c.6199T= (p.Ser2067=)
5g.112842643C>ACA012776APCc.7103C>A (p.Ser2368Tyr)
c.*7055C>A (n.*7055C>A)
c.6995C>A (p.Ser2332Tyr)
c.7049C>A (p.Ser2350Tyr)
c.*6371C>A (n.*6371C>A)
c.230+13671C>A
c.7079C>A (p.Ser2360Tyr)
c.6974C>A (p.Ser2325Tyr)
c.6965C>A (p.Ser2322Tyr)
c.6926C>A (p.Ser2309Tyr)
c.6872C>A (p.Ser2291Tyr)
c.6776C>A (p.Ser2259Tyr)
c.6746C>A (p.Ser2249Tyr)
c.6671C>A (p.Ser2224Tyr)
c.6569C>A (p.Ser2190Tyr)
c.6200C>A (p.Ser2067Tyr)
ClinVar dbSNP gnomAD v4
5g.112842643C=CA1573466405APCc.7103C= (p.Ser2368=)
c.*7055C= (n.*7055C=)
c.6995C= (p.Ser2332=)
c.7049C= (p.Ser2350=)
c.*6371C= (n.*6371C=)
c.230+13671C=
c.7079C= (p.Ser2360=)
c.6974C= (p.Ser2325=)
c.6965C= (p.Ser2322=)
c.6926C= (p.Ser2309=)
c.6872C= (p.Ser2291=)
c.6776C= (p.Ser2259=)
c.6746C= (p.Ser2249=)
c.6671C= (p.Ser2224=)
c.6569C= (p.Ser2190=)
c.6200C= (p.Ser2067=)
5g.112842643C>GCA16036694APCc.7103C>G (p.Ser2368Cys)
c.*7055C>G (n.*7055C>G)
c.6995C>G (p.Ser2332Cys)
c.7049C>G (p.Ser2350Cys)
c.*6371C>G (n.*6371C>G)
c.230+13671C>G
c.7079C>G (p.Ser2360Cys)
c.6974C>G (p.Ser2325Cys)
c.6965C>G (p.Ser2322Cys)
c.6926C>G (p.Ser2309Cys)
c.6872C>G (p.Ser2291Cys)
c.6776C>G (p.Ser2259Cys)
c.6746C>G (p.Ser2249Cys)
c.6671C>G (p.Ser2224Cys)
c.6569C>G (p.Ser2190Cys)
c.6200C>G (p.Ser2067Cys)
ClinVar dbSNP gnomAD v4
5g.112842643C>TCA012787APCc.7103C>T (p.Ser2368Phe)
c.*7055C>T (n.*7055C>T)
c.6995C>T (p.Ser2332Phe)
c.7049C>T (p.Ser2350Phe)
c.*6371C>T (n.*6371C>T)
c.230+13671C>T
c.7079C>T (p.Ser2360Phe)
c.6974C>T (p.Ser2325Phe)
c.6965C>T (p.Ser2322Phe)
c.6926C>T (p.Ser2309Phe)
c.6872C>T (p.Ser2291Phe)
c.6776C>T (p.Ser2259Phe)
c.6746C>T (p.Ser2249Phe)
c.6671C>T (p.Ser2224Phe)
c.6569C>T (p.Ser2190Phe)
c.6200C>T (p.Ser2067Phe)
ClinVar dbSNP gnomAD v4
5g.112842643_112842646delCA2523425783APCc.7103_7106del (p.Ser2368LeufsTer23)
c.*7055_*7058del (n.*7055_*7058del)
c.6995_6998del (p.Ser2332LeufsTer23)
c.7049_7052del (p.Ser2350LeufsTer23)
c.*6371_*6374del (n.*6371_*6374del)
c.230+13671_230+13674del
c.7079_7082del (p.Ser2360LeufsTer23)
c.6974_6977del (p.Ser2325LeufsTer23)
c.6965_6968del (p.Ser2322LeufsTer23)
c.6926_6929del (p.Ser2309LeufsTer23)
c.6872_6875del (p.Ser2291LeufsTer23)
c.6776_6779del (p.Ser2259LeufsTer23)
c.6746_6749del (p.Ser2249LeufsTer23)
c.6671_6674del (p.Ser2224LeufsTer23)
c.6569_6572del (p.Ser2190LeufsTer23)
c.6200_6203del (p.Ser2067LeufsTer23)
5g.112842646dupCA125167809APCc.7106dup (p.Ser2370Ter)
c.*7058dup (n.*7058dup)
c.6998dup (p.Ser2334Ter)
c.7052dup (p.Ser2352Ter)
c.*6374dup (n.*6374dup)
c.230+13674dup
c.7082dup (p.Ser2362Ter)
c.6977dup (p.Ser2327Ter)
c.6968dup (p.Ser2324Ter)
c.6929dup (p.Ser2311Ter)
c.6875dup (p.Ser2293Ter)
c.6779dup (p.Ser2261Ter)
c.6749dup (p.Ser2251Ter)
c.6674dup (p.Ser2226Ter)
c.6572dup (p.Ser2192Ter)
c.6203dup (p.Ser2069Ter)
dbSNP
5g.112842643_112842649delinsTCA2580072369APCc.7103_7109delinsT (p.Ser2368_Ser2370delinsPhe)
c.*7055_*7061delinsT (n.*7055_*7061delinsT)
c.6995_7001delinsT (p.Ser2332_Ser2334delinsPhe)
c.7049_7055delinsT (p.Ser2350_Ser2352delinsPhe)
c.*6371_*6377delinsT (n.*6371_*6377delinsT)
c.230+13671_230+13677delinsT
c.7079_7085delinsT (p.Ser2360_Ser2362delinsPhe)
c.6974_6980delinsT (p.Ser2325_Ser2327delinsPhe)
c.6965_6971delinsT (p.Ser2322_Ser2324delinsPhe)
c.6926_6932delinsT (p.Ser2309_Ser2311delinsPhe)
c.6872_6878delinsT (p.Ser2291_Ser2293delinsPhe)
c.6776_6782delinsT (p.Ser2259_Ser2261delinsPhe)
c.6746_6752delinsT (p.Ser2249_Ser2251delinsPhe)
c.6671_6677delinsT (p.Ser2224_Ser2226delinsPhe)
c.6569_6575delinsT (p.Ser2190_Ser2192delinsPhe)
c.6200_6206delinsT (p.Ser2067_Ser2069delinsPhe)
ClinVar
5g.112842644C>ACA012796APCc.7104C>A (p.Ser2368=)
c.*7056C>A (n.*7056C>A)
c.6996C>A (p.Ser2332=)
c.7050C>A (p.Ser2350=)
c.*6372C>A (n.*6372C>A)
c.230+13672C>A
c.7080C>A (p.Ser2360=)
c.6975C>A (p.Ser2325=)
c.6966C>A (p.Ser2322=)
c.6927C>A (p.Ser2309=)
c.6873C>A (p.Ser2291=)
c.6777C>A (p.Ser2259=)
c.6747C>A (p.Ser2249=)
c.6672C>A (p.Ser2224=)
c.6570C>A (p.Ser2190=)
c.6201C>A (p.Ser2067=)
ClinVar dbSNP
5g.112842644C=CA1573466422APCc.7104C= (p.Ser2368=)
c.*7056C= (n.*7056C=)
c.6996C= (p.Ser2332=)
c.7050C= (p.Ser2350=)
c.*6372C= (n.*6372C=)
c.230+13672C=
c.7080C= (p.Ser2360=)
c.6975C= (p.Ser2325=)
c.6966C= (p.Ser2322=)
c.6927C= (p.Ser2309=)
c.6873C= (p.Ser2291=)
c.6777C= (p.Ser2259=)
c.6747C= (p.Ser2249=)
c.6672C= (p.Ser2224=)
c.6570C= (p.Ser2190=)
c.6201C= (p.Ser2067=)
5g.112842644C>GCA446210799APCc.7104C>G (p.Ser2368=)
c.*7056C>G (n.*7056C>G)
c.6996C>G (p.Ser2332=)
c.7050C>G (p.Ser2350=)
c.*6372C>G (n.*6372C>G)
c.230+13672C>G
c.7080C>G (p.Ser2360=)
c.6975C>G (p.Ser2325=)
c.6966C>G (p.Ser2322=)
c.6927C>G (p.Ser2309=)
c.6873C>G (p.Ser2291=)
c.6777C>G (p.Ser2259=)
c.6747C>G (p.Ser2249=)
c.6672C>G (p.Ser2224=)
c.6570C>G (p.Ser2190=)
c.6201C>G (p.Ser2067=)
dbSNP
5g.112842644C>TCA446210800APCc.7104C>T (p.Ser2368=)
c.*7056C>T (n.*7056C>T)
c.6996C>T (p.Ser2332=)
c.7050C>T (p.Ser2350=)
c.*6372C>T (n.*6372C>T)
c.230+13672C>T
c.7080C>T (p.Ser2360=)
c.6975C>T (p.Ser2325=)
c.6966C>T (p.Ser2322=)
c.6927C>T (p.Ser2309=)
c.6873C>T (p.Ser2291=)
c.6777C>T (p.Ser2259=)
c.6747C>T (p.Ser2249=)
c.6672C>T (p.Ser2224=)
c.6570C>T (p.Ser2190=)
c.6201C>T (p.Ser2067=)
ClinVar dbSNP gnomAD v4
5g.112842645C>ACA16036695APCc.7105C>A (p.Pro2369Thr)
c.*7057C>A (n.*7057C>A)
c.6997C>A (p.Pro2333Thr)
c.7051C>A (p.Pro2351Thr)
c.*6373C>A (n.*6373C>A)
c.230+13673C>A
c.7081C>A (p.Pro2361Thr)
c.6976C>A (p.Pro2326Thr)
c.6967C>A (p.Pro2323Thr)
c.6928C>A (p.Pro2310Thr)
c.6874C>A (p.Pro2292Thr)
c.6778C>A (p.Pro2260Thr)
c.6748C>A (p.Pro2250Thr)
c.6673C>A (p.Pro2225Thr)
c.6571C>A (p.Pro2191Thr)
c.6202C>A (p.Pro2068Thr)
dbSNP
5g.112842645C>GCA16036696APCc.7105C>G (p.Pro2369Ala)
c.*7057C>G (n.*7057C>G)
c.6997C>G (p.Pro2333Ala)
c.7051C>G (p.Pro2351Ala)
c.*6373C>G (n.*6373C>G)
c.230+13673C>G
c.7081C>G (p.Pro2361Ala)
c.6976C>G (p.Pro2326Ala)
c.6967C>G (p.Pro2323Ala)
c.6928C>G (p.Pro2310Ala)
c.6874C>G (p.Pro2292Ala)
c.6778C>G (p.Pro2260Ala)
c.6748C>G (p.Pro2250Ala)
c.6673C>G (p.Pro2225Ala)
c.6571C>G (p.Pro2191Ala)
c.6202C>G (p.Pro2068Ala)
ClinVar dbSNP
5g.112842645C>TCA16036697APCc.7105C>T (p.Pro2369Ser)
c.*7057C>T (n.*7057C>T)
c.6997C>T (p.Pro2333Ser)
c.7051C>T (p.Pro2351Ser)
c.*6373C>T (n.*6373C>T)
c.230+13673C>T
c.7081C>T (p.Pro2361Ser)
c.6976C>T (p.Pro2326Ser)
c.6967C>T (p.Pro2323Ser)
c.6928C>T (p.Pro2310Ser)
c.6874C>T (p.Pro2292Ser)
c.6778C>T (p.Pro2260Ser)
c.6748C>T (p.Pro2250Ser)
c.6673C>T (p.Pro2225Ser)
c.6571C>T (p.Pro2191Ser)
c.6202C>T (p.Pro2068Ser)
ClinVar dbSNP
5g.112842646C>ACA16036698APCc.7106C>A (p.Pro2369His)
c.*7058C>A (n.*7058C>A)
c.6998C>A (p.Pro2333His)
c.7052C>A (p.Pro2351His)
c.*6374C>A (n.*6374C>A)
c.230+13674C>A
c.7082C>A (p.Pro2361His)
c.6977C>A (p.Pro2326His)
c.6968C>A (p.Pro2323His)
c.6929C>A (p.Pro2310His)
c.6875C>A (p.Pro2292His)
c.6779C>A (p.Pro2260His)
c.6749C>A (p.Pro2250His)
c.6674C>A (p.Pro2225His)
c.6572C>A (p.Pro2191His)
c.6203C>A (p.Pro2068His)
ClinVar dbSNP
5g.112842646C=CA1573466430APCc.7106C= (p.Pro2369=)
c.*7058C= (n.*7058C=)
c.6998C= (p.Pro2333=)
c.7052C= (p.Pro2351=)
c.*6374C= (n.*6374C=)
c.230+13674C=
c.7082C= (p.Pro2361=)
c.6977C= (p.Pro2326=)
c.6968C= (p.Pro2323=)
c.6929C= (p.Pro2310=)
c.6875C= (p.Pro2292=)
c.6779C= (p.Pro2260=)
c.6749C= (p.Pro2250=)
c.6674C= (p.Pro2225=)
c.6572C= (p.Pro2191=)
c.6203C= (p.Pro2068=)
5g.112842646C>GCA16036699APCc.7106C>G (p.Pro2369Arg)
c.*7058C>G (n.*7058C>G)
c.6998C>G (p.Pro2333Arg)
c.7052C>G (p.Pro2351Arg)
c.*6374C>G (n.*6374C>G)
c.230+13674C>G
c.7082C>G (p.Pro2361Arg)
c.6977C>G (p.Pro2326Arg)
c.6968C>G (p.Pro2323Arg)
c.6929C>G (p.Pro2310Arg)
c.6875C>G (p.Pro2292Arg)
c.6779C>G (p.Pro2260Arg)
c.6749C>G (p.Pro2250Arg)
c.6674C>G (p.Pro2225Arg)
c.6572C>G (p.Pro2191Arg)
c.6203C>G (p.Pro2068Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842646C>TCA16036700APCc.7106C>T (p.Pro2369Leu)
c.*7058C>T (n.*7058C>T)
c.6998C>T (p.Pro2333Leu)
c.7052C>T (p.Pro2351Leu)
c.*6374C>T (n.*6374C>T)
c.230+13674C>T
c.7082C>T (p.Pro2361Leu)
c.6977C>T (p.Pro2326Leu)
c.6968C>T (p.Pro2323Leu)
c.6929C>T (p.Pro2310Leu)
c.6875C>T (p.Pro2292Leu)
c.6779C>T (p.Pro2260Leu)
c.6749C>T (p.Pro2250Leu)
c.6674C>T (p.Pro2225Leu)
c.6572C>T (p.Pro2191Leu)
c.6203C>T (p.Pro2068Leu)
dbSNP
5g.112842647T>ACA446210804APCc.7107T>A (p.Pro2369=)
c.*7059T>A (n.*7059T>A)
c.6999T>A (p.Pro2333=)
c.7053T>A (p.Pro2351=)
c.*6375T>A (n.*6375T>A)
c.230+13675T>A
c.7083T>A (p.Pro2361=)
c.6978T>A (p.Pro2326=)
c.6969T>A (p.Pro2323=)
c.6930T>A (p.Pro2310=)
c.6876T>A (p.Pro2292=)
c.6780T>A (p.Pro2260=)
c.6750T>A (p.Pro2250=)
c.6675T>A (p.Pro2225=)
c.6573T>A (p.Pro2191=)
c.6204T>A (p.Pro2068=)
5g.112842647T>CCA446210805APCc.7107T>C (p.Pro2369=)
c.*7059T>C (n.*7059T>C)
c.6999T>C (p.Pro2333=)
c.7053T>C (p.Pro2351=)
c.*6375T>C (n.*6375T>C)
c.230+13675T>C
c.7083T>C (p.Pro2361=)
c.6978T>C (p.Pro2326=)
c.6969T>C (p.Pro2323=)
c.6930T>C (p.Pro2310=)
c.6876T>C (p.Pro2292=)
c.6780T>C (p.Pro2260=)
c.6750T>C (p.Pro2250=)
c.6675T>C (p.Pro2225=)
c.6573T>C (p.Pro2191=)
c.6204T>C (p.Pro2068=)
ClinVar dbSNP
5g.112842647T>GCA446210806APCc.7107T>G (p.Pro2369=)
c.*7059T>G (n.*7059T>G)
c.6999T>G (p.Pro2333=)
c.7053T>G (p.Pro2351=)
c.*6375T>G (n.*6375T>G)
c.230+13675T>G
c.7083T>G (p.Pro2361=)
c.6978T>G (p.Pro2326=)
c.6969T>G (p.Pro2323=)
c.6930T>G (p.Pro2310=)
c.6876T>G (p.Pro2292=)
c.6780T>G (p.Pro2260=)
c.6750T>G (p.Pro2250=)
c.6675T>G (p.Pro2225=)
c.6573T>G (p.Pro2191=)
c.6204T>G (p.Pro2068=)
5g.112842648A=CA1573466441APCc.7108A= (p.Ser2370=)
c.*7060A= (n.*7060A=)
c.7000A= (p.Ser2334=)
c.7054A= (p.Ser2352=)
c.*6376A= (n.*6376A=)
c.230+13676A=
c.7084A= (p.Ser2362=)
c.6979A= (p.Ser2327=)
c.6970A= (p.Ser2324=)
c.6931A= (p.Ser2311=)
c.6877A= (p.Ser2293=)
c.6781A= (p.Ser2261=)
c.6751A= (p.Ser2251=)
c.6676A= (p.Ser2226=)
c.6574A= (p.Ser2192=)
c.6205A= (p.Ser2069=)
5g.112842648A>CCA16036701APCc.7108A>C (p.Ser2370Arg)
c.*7060A>C (n.*7060A>C)
c.7000A>C (p.Ser2334Arg)
c.7054A>C (p.Ser2352Arg)
c.*6376A>C (n.*6376A>C)
c.230+13676A>C
c.7084A>C (p.Ser2362Arg)
c.6979A>C (p.Ser2327Arg)
c.6970A>C (p.Ser2324Arg)
c.6931A>C (p.Ser2311Arg)
c.6877A>C (p.Ser2293Arg)
c.6781A>C (p.Ser2261Arg)
c.6751A>C (p.Ser2251Arg)
c.6676A>C (p.Ser2226Arg)
c.6574A>C (p.Ser2192Arg)
c.6205A>C (p.Ser2069Arg)
ClinVar dbSNP
5g.112842648A>GCA16036702APCc.7108A>G (p.Ser2370Gly)
c.*7060A>G (n.*7060A>G)
c.7000A>G (p.Ser2334Gly)
c.7054A>G (p.Ser2352Gly)
c.*6376A>G (n.*6376A>G)
c.230+13676A>G
c.7084A>G (p.Ser2362Gly)
c.6979A>G (p.Ser2327Gly)
c.6970A>G (p.Ser2324Gly)
c.6931A>G (p.Ser2311Gly)
c.6877A>G (p.Ser2293Gly)
c.6781A>G (p.Ser2261Gly)
c.6751A>G (p.Ser2251Gly)
c.6676A>G (p.Ser2226Gly)
c.6574A>G (p.Ser2192Gly)
c.6205A>G (p.Ser2069Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842648A>TCA046749APCc.7108A>T (p.Ser2370Cys)
c.*7060A>T (n.*7060A>T)
c.7000A>T (p.Ser2334Cys)
c.7054A>T (p.Ser2352Cys)
c.*6376A>T (n.*6376A>T)
c.230+13676A>T
c.7084A>T (p.Ser2362Cys)
c.6979A>T (p.Ser2327Cys)
c.6970A>T (p.Ser2324Cys)
c.6931A>T (p.Ser2311Cys)
c.6877A>T (p.Ser2293Cys)
c.6781A>T (p.Ser2261Cys)
c.6751A>T (p.Ser2251Cys)
c.6676A>T (p.Ser2226Cys)
c.6574A>T (p.Ser2192Cys)
c.6205A>T (p.Ser2069Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842648_112842649delCA2539606492APCc.7108_7109del (p.Ser2370TyrfsTer5)
c.*7060_*7061del (n.*7060_*7061del)
c.7000_7001del (p.Ser2334TyrfsTer5)
c.7054_7055del (p.Ser2352TyrfsTer5)
c.*6376_*6377del (n.*6376_*6377del)
c.230+13676_230+13677del
c.7084_7085del (p.Ser2362TyrfsTer5)
c.6979_6980del (p.Ser2327TyrfsTer5)
c.6970_6971del (p.Ser2324TyrfsTer5)
c.6931_6932del (p.Ser2311TyrfsTer5)
c.6877_6878del (p.Ser2293TyrfsTer5)
c.6781_6782del (p.Ser2261TyrfsTer5)
c.6751_6752del (p.Ser2251TyrfsTer5)
c.6676_6677del (p.Ser2226TyrfsTer5)
c.6574_6575del (p.Ser2192TyrfsTer5)
c.6205_6206del (p.Ser2069TyrfsTer5)
5g.112842649G>ACA16036703APCc.7109G>A (p.Ser2370Asn)
c.*7061G>A (n.*7061G>A)
c.7001G>A (p.Ser2334Asn)
c.7055G>A (p.Ser2352Asn)
c.*6377G>A (n.*6377G>A)
c.230+13677G>A
c.7085G>A (p.Ser2362Asn)
c.6980G>A (p.Ser2327Asn)
c.6971G>A (p.Ser2324Asn)
c.6932G>A (p.Ser2311Asn)
c.6878G>A (p.Ser2293Asn)
c.6782G>A (p.Ser2261Asn)
c.6752G>A (p.Ser2251Asn)
c.6677G>A (p.Ser2226Asn)
c.6575G>A (p.Ser2192Asn)
c.6206G>A (p.Ser2069Asn)
ClinVar dbSNP gnomAD v4
5g.112842649G>CCA16036704APCc.7109G>C (p.Ser2370Thr)
c.*7061G>C (n.*7061G>C)
c.7001G>C (p.Ser2334Thr)
c.7055G>C (p.Ser2352Thr)
c.*6377G>C (n.*6377G>C)
c.230+13677G>C
c.7085G>C (p.Ser2362Thr)
c.6980G>C (p.Ser2327Thr)
c.6971G>C (p.Ser2324Thr)
c.6932G>C (p.Ser2311Thr)
c.6878G>C (p.Ser2293Thr)
c.6782G>C (p.Ser2261Thr)
c.6752G>C (p.Ser2251Thr)
c.6677G>C (p.Ser2226Thr)
c.6575G>C (p.Ser2192Thr)
c.6206G>C (p.Ser2069Thr)
dbSNP
5g.112842649G=CA1573466454APCc.7109G= (p.Ser2370=)
c.*7061G= (n.*7061G=)
c.7001G= (p.Ser2334=)
c.7055G= (p.Ser2352=)
c.*6377G= (n.*6377G=)
c.230+13677G=
c.7085G= (p.Ser2362=)
c.6980G= (p.Ser2327=)
c.6971G= (p.Ser2324=)
c.6932G= (p.Ser2311=)
c.6878G= (p.Ser2293=)
c.6782G= (p.Ser2261=)
c.6752G= (p.Ser2251=)
c.6677G= (p.Ser2226=)
c.6575G= (p.Ser2192=)
c.6206G= (p.Ser2069=)
5g.112842649G>TCA16036705APCc.7109G>T (p.Ser2370Ile)
c.*7061G>T (n.*7061G>T)
c.7001G>T (p.Ser2334Ile)
c.7055G>T (p.Ser2352Ile)
c.*6377G>T (n.*6377G>T)
c.230+13677G>T
c.7085G>T (p.Ser2362Ile)
c.6980G>T (p.Ser2327Ile)
c.6971G>T (p.Ser2324Ile)
c.6932G>T (p.Ser2311Ile)
c.6878G>T (p.Ser2293Ile)
c.6782G>T (p.Ser2261Ile)
c.6752G>T (p.Ser2251Ile)
c.6677G>T (p.Ser2226Ile)
c.6575G>T (p.Ser2192Ile)
c.6206G>T (p.Ser2069Ile)
5g.112842650T>ACA16036706APCc.7110T>A (p.Ser2370Arg)
c.*7062T>A (n.*7062T>A)
c.7002T>A (p.Ser2334Arg)
c.7056T>A (p.Ser2352Arg)
c.*6378T>A (n.*6378T>A)
c.230+13678T>A
c.7086T>A (p.Ser2362Arg)
c.6981T>A (p.Ser2327Arg)
c.6972T>A (p.Ser2324Arg)
c.6933T>A (p.Ser2311Arg)
c.6879T>A (p.Ser2293Arg)
c.6783T>A (p.Ser2261Arg)
c.6753T>A (p.Ser2251Arg)
c.6678T>A (p.Ser2226Arg)
c.6576T>A (p.Ser2192Arg)
c.6207T>A (p.Ser2069Arg)
dbSNP
5g.112842650T>CCA446210810APCc.7110T>C (p.Ser2370=)
c.*7062T>C (n.*7062T>C)
c.7002T>C (p.Ser2334=)
c.7056T>C (p.Ser2352=)
c.*6378T>C (n.*6378T>C)
c.230+13678T>C
c.7086T>C (p.Ser2362=)
c.6981T>C (p.Ser2327=)
c.6972T>C (p.Ser2324=)
c.6933T>C (p.Ser2311=)
c.6879T>C (p.Ser2293=)
c.6783T>C (p.Ser2261=)
c.6753T>C (p.Ser2251=)
c.6678T>C (p.Ser2226=)
c.6576T>C (p.Ser2192=)
c.6207T>C (p.Ser2069=)
ClinVar dbSNP
5g.112842650T>GCA16036707APCc.7110T>G (p.Ser2370Arg)
c.*7062T>G (n.*7062T>G)
c.7002T>G (p.Ser2334Arg)
c.7056T>G (p.Ser2352Arg)
c.*6378T>G (n.*6378T>G)
c.230+13678T>G
c.7086T>G (p.Ser2362Arg)
c.6981T>G (p.Ser2327Arg)
c.6972T>G (p.Ser2324Arg)
c.6933T>G (p.Ser2311Arg)
c.6879T>G (p.Ser2293Arg)
c.6783T>G (p.Ser2261Arg)
c.6753T>G (p.Ser2251Arg)
c.6678T>G (p.Ser2226Arg)
c.6576T>G (p.Ser2192Arg)
c.6207T>G (p.Ser2069Arg)
dbSNP
5g.112842651A>CCA16036708APCc.7111A>C (p.Thr2371Pro)
c.*7063A>C (n.*7063A>C)
c.7003A>C (p.Thr2335Pro)
c.7057A>C (p.Thr2353Pro)
c.*6379A>C (n.*6379A>C)
c.230+13679A>C
c.7087A>C (p.Thr2363Pro)
c.6982A>C (p.Thr2328Pro)
c.6973A>C (p.Thr2325Pro)
c.6934A>C (p.Thr2312Pro)
c.6880A>C (p.Thr2294Pro)
c.6784A>C (p.Thr2262Pro)
c.6754A>C (p.Thr2252Pro)
c.6679A>C (p.Thr2227Pro)
c.6577A>C (p.Thr2193Pro)
c.6208A>C (p.Thr2070Pro)
dbSNP
5g.112842651A>GCA16036709APCc.7111A>G (p.Thr2371Ala)
c.*7063A>G (n.*7063A>G)
c.7003A>G (p.Thr2335Ala)
c.7057A>G (p.Thr2353Ala)
c.*6379A>G (n.*6379A>G)
c.230+13679A>G
c.7087A>G (p.Thr2363Ala)
c.6982A>G (p.Thr2328Ala)
c.6973A>G (p.Thr2325Ala)
c.6934A>G (p.Thr2312Ala)
c.6880A>G (p.Thr2294Ala)
c.6784A>G (p.Thr2262Ala)
c.6754A>G (p.Thr2252Ala)
c.6679A>G (p.Thr2227Ala)
c.6577A>G (p.Thr2193Ala)
c.6208A>G (p.Thr2070Ala)
ClinVar dbSNP gnomAD v4
5g.112842651A>TCA16036710APCc.7111A>T (p.Thr2371Ser)
c.*7063A>T (n.*7063A>T)
c.7003A>T (p.Thr2335Ser)
c.7057A>T (p.Thr2353Ser)
c.*6379A>T (n.*6379A>T)
c.230+13679A>T
c.7087A>T (p.Thr2363Ser)
c.6982A>T (p.Thr2328Ser)
c.6973A>T (p.Thr2325Ser)
c.6934A>T (p.Thr2312Ser)
c.6880A>T (p.Thr2294Ser)
c.6784A>T (p.Thr2262Ser)
c.6754A>T (p.Thr2252Ser)
c.6679A>T (p.Thr2227Ser)
c.6577A>T (p.Thr2193Ser)
c.6208A>T (p.Thr2070Ser)
dbSNP
5g.112842651dupCA2697546376APCc.7111dup (p.Thr2371AsnfsTer5)
c.*7063dup (n.*7063dup)
c.7003dup (p.Thr2335AsnfsTer5)
c.7057dup (p.Thr2353AsnfsTer5)
c.*6379dup (n.*6379dup)
c.230+13679dup
c.7087dup (p.Thr2363AsnfsTer5)
c.6982dup (p.Thr2328AsnfsTer5)
c.6973dup (p.Thr2325AsnfsTer5)
c.6934dup (p.Thr2312AsnfsTer5)
c.6880dup (p.Thr2294AsnfsTer5)
c.6784dup (p.Thr2262AsnfsTer5)
c.6754dup (p.Thr2252AsnfsTer5)
c.6679dup (p.Thr2227AsnfsTer5)
c.6577dup (p.Thr2193AsnfsTer5)
c.6208dup (p.Thr2070AsnfsTer5)
ClinVar
5g.112842652C>ACA16036711APCc.7112C>A (p.Thr2371Asn)
c.*7064C>A (n.*7064C>A)
c.7004C>A (p.Thr2335Asn)
c.7058C>A (p.Thr2353Asn)
c.*6380C>A (n.*6380C>A)
c.230+13680C>A
c.7088C>A (p.Thr2363Asn)
c.6983C>A (p.Thr2328Asn)
c.6974C>A (p.Thr2325Asn)
c.6935C>A (p.Thr2312Asn)
c.6881C>A (p.Thr2294Asn)
c.6785C>A (p.Thr2262Asn)
c.6755C>A (p.Thr2252Asn)
c.6680C>A (p.Thr2227Asn)
c.6578C>A (p.Thr2193Asn)
c.6209C>A (p.Thr2070Asn)
dbSNP
5g.112842652C=CA1573466470APCc.7112C= (p.Thr2371=)
c.*7064C= (n.*7064C=)
c.7004C= (p.Thr2335=)
c.7058C= (p.Thr2353=)
c.*6380C= (n.*6380C=)
c.230+13680C=
c.7088C= (p.Thr2363=)
c.6983C= (p.Thr2328=)
c.6974C= (p.Thr2325=)
c.6935C= (p.Thr2312=)
c.6881C= (p.Thr2294=)
c.6785C= (p.Thr2262=)
c.6755C= (p.Thr2252=)
c.6680C= (p.Thr2227=)
c.6578C= (p.Thr2193=)
c.6209C= (p.Thr2070=)
5g.112842652C>GCA16036712APCc.7112C>G (p.Thr2371Ser)
c.*7064C>G (n.*7064C>G)
c.7004C>G (p.Thr2335Ser)
c.7058C>G (p.Thr2353Ser)
c.*6380C>G (n.*6380C>G)
c.230+13680C>G
c.7088C>G (p.Thr2363Ser)
c.6983C>G (p.Thr2328Ser)
c.6974C>G (p.Thr2325Ser)
c.6935C>G (p.Thr2312Ser)
c.6881C>G (p.Thr2294Ser)
c.6785C>G (p.Thr2262Ser)
c.6755C>G (p.Thr2252Ser)
c.6680C>G (p.Thr2227Ser)
c.6578C>G (p.Thr2193Ser)
c.6209C>G (p.Thr2070Ser)
ClinVar dbSNP
5g.112842652C>TCA16036713APCc.7112C>T (p.Thr2371Ile)
c.*7064C>T (n.*7064C>T)
c.7004C>T (p.Thr2335Ile)
c.7058C>T (p.Thr2353Ile)
c.*6380C>T (n.*6380C>T)
c.230+13680C>T
c.7088C>T (p.Thr2363Ile)
c.6983C>T (p.Thr2328Ile)
c.6974C>T (p.Thr2325Ile)
c.6935C>T (p.Thr2312Ile)
c.6881C>T (p.Thr2294Ile)
c.6785C>T (p.Thr2262Ile)
c.6755C>T (p.Thr2252Ile)
c.6680C>T (p.Thr2227Ile)
c.6578C>T (p.Thr2193Ile)
c.6209C>T (p.Thr2070Ile)
ClinVar dbSNP gnomAD v4
5g.112842653T>ACA446210817APCc.7113T>A (p.Thr2371=)
c.*7065T>A (n.*7065T>A)
c.7005T>A (p.Thr2335=)
c.7059T>A (p.Thr2353=)
c.*6381T>A (n.*6381T>A)
c.230+13681T>A
c.7089T>A (p.Thr2363=)
c.6984T>A (p.Thr2328=)
c.6975T>A (p.Thr2325=)
c.6936T>A (p.Thr2312=)
c.6882T>A (p.Thr2294=)
c.6786T>A (p.Thr2262=)
c.6756T>A (p.Thr2252=)
c.6681T>A (p.Thr2227=)
c.6579T>A (p.Thr2193=)
c.6210T>A (p.Thr2070=)
5g.112842653T>CCA446210819APCc.7113T>C (p.Thr2371=)
c.*7065T>C (n.*7065T>C)
c.7005T>C (p.Thr2335=)
c.7059T>C (p.Thr2353=)
c.*6381T>C (n.*6381T>C)
c.230+13681T>C
c.7089T>C (p.Thr2363=)
c.6984T>C (p.Thr2328=)
c.6975T>C (p.Thr2325=)
c.6936T>C (p.Thr2312=)
c.6882T>C (p.Thr2294=)
c.6786T>C (p.Thr2262=)
c.6756T>C (p.Thr2252=)
c.6681T>C (p.Thr2227=)
c.6579T>C (p.Thr2193=)
c.6210T>C (p.Thr2070=)
ClinVar dbSNP
5g.112842653T>GCA125167810APCc.7113T>G (p.Thr2371=)
c.*7065T>G (n.*7065T>G)
c.7005T>G (p.Thr2335=)
c.7059T>G (p.Thr2353=)
c.*6381T>G (n.*6381T>G)
c.230+13681T>G
c.7089T>G (p.Thr2363=)
c.6984T>G (p.Thr2328=)
c.6975T>G (p.Thr2325=)
c.6936T>G (p.Thr2312=)
c.6882T>G (p.Thr2294=)
c.6786T>G (p.Thr2262=)
c.6756T>G (p.Thr2252=)
c.6681T>G (p.Thr2227=)
c.6579T>G (p.Thr2193=)
c.6210T>G (p.Thr2070=)
ClinVar dbSNP
5g.112842653T=CA1573466477APCc.7113T= (p.Thr2371=)
c.*7065T= (n.*7065T=)
c.7005T= (p.Thr2335=)
c.7059T= (p.Thr2353=)
c.*6381T= (n.*6381T=)
c.230+13681T=
c.7089T= (p.Thr2363=)
c.6984T= (p.Thr2328=)
c.6975T= (p.Thr2325=)
c.6936T= (p.Thr2312=)
c.6882T= (p.Thr2294=)
c.6786T= (p.Thr2262=)
c.6756T= (p.Thr2252=)
c.6681T= (p.Thr2227=)
c.6579T= (p.Thr2193=)
c.6210T= (p.Thr2070=)
5g.112842654G>ACA16036714APCc.7114G>A (p.Ala2372Thr)
c.*7066G>A (n.*7066G>A)
c.7006G>A (p.Ala2336Thr)
c.7060G>A (p.Ala2354Thr)
c.*6382G>A (n.*6382G>A)
c.230+13682G>A
c.7090G>A (p.Ala2364Thr)
c.6985G>A (p.Ala2329Thr)
c.6976G>A (p.Ala2326Thr)
c.6937G>A (p.Ala2313Thr)
c.6883G>A (p.Ala2295Thr)
c.6787G>A (p.Ala2263Thr)
c.6757G>A (p.Ala2253Thr)
c.6682G>A (p.Ala2228Thr)
c.6580G>A (p.Ala2194Thr)
c.6211G>A (p.Ala2071Thr)
dbSNP
5g.112842654G>CCA16036715APCc.7114G>C (p.Ala2372Pro)
c.*7066G>C (n.*7066G>C)
c.7006G>C (p.Ala2336Pro)
c.7060G>C (p.Ala2354Pro)
c.*6382G>C (n.*6382G>C)
c.230+13682G>C
c.7090G>C (p.Ala2364Pro)
c.6985G>C (p.Ala2329Pro)
c.6976G>C (p.Ala2326Pro)
c.6937G>C (p.Ala2313Pro)
c.6883G>C (p.Ala2295Pro)
c.6787G>C (p.Ala2263Pro)
c.6757G>C (p.Ala2253Pro)
c.6682G>C (p.Ala2228Pro)
c.6580G>C (p.Ala2194Pro)
c.6211G>C (p.Ala2071Pro)
dbSNP
5g.112842654G>TCA16036716APCc.7114G>T (p.Ala2372Ser)
c.*7066G>T (n.*7066G>T)
c.7006G>T (p.Ala2336Ser)
c.7060G>T (p.Ala2354Ser)
c.*6382G>T (n.*6382G>T)
c.230+13682G>T
c.7090G>T (p.Ala2364Ser)
c.6985G>T (p.Ala2329Ser)
c.6976G>T (p.Ala2326Ser)
c.6937G>T (p.Ala2313Ser)
c.6883G>T (p.Ala2295Ser)
c.6787G>T (p.Ala2263Ser)
c.6757G>T (p.Ala2253Ser)
c.6682G>T (p.Ala2228Ser)
c.6580G>T (p.Ala2194Ser)
c.6211G>T (p.Ala2071Ser)
dbSNP
5g.112842655C>ACA16036717APCc.7115C>A (p.Ala2372Asp)
c.*7067C>A (n.*7067C>A)
c.7007C>A (p.Ala2336Asp)
c.7061C>A (p.Ala2354Asp)
c.*6383C>A (n.*6383C>A)
c.230+13683C>A
c.7091C>A (p.Ala2364Asp)
c.6986C>A (p.Ala2329Asp)
c.6977C>A (p.Ala2326Asp)
c.6938C>A (p.Ala2313Asp)
c.6884C>A (p.Ala2295Asp)
c.6788C>A (p.Ala2263Asp)
c.6758C>A (p.Ala2253Asp)
c.6683C>A (p.Ala2228Asp)
c.6581C>A (p.Ala2194Asp)
c.6212C>A (p.Ala2071Asp)
dbSNP
5g.112842655C=CA1573466485APCc.7115C= (p.Ala2372=)
c.*7067C= (n.*7067C=)
c.7007C= (p.Ala2336=)
c.7061C= (p.Ala2354=)
c.*6383C= (n.*6383C=)
c.230+13683C=
c.7091C= (p.Ala2364=)
c.6986C= (p.Ala2329=)
c.6977C= (p.Ala2326=)
c.6938C= (p.Ala2313=)
c.6884C= (p.Ala2295=)
c.6788C= (p.Ala2263=)
c.6758C= (p.Ala2253=)
c.6683C= (p.Ala2228=)
c.6581C= (p.Ala2194=)
c.6212C= (p.Ala2071=)
5g.112842655C>GCA16036718APCc.7115C>G (p.Ala2372Gly)
c.*7067C>G (n.*7067C>G)
c.7007C>G (p.Ala2336Gly)
c.7061C>G (p.Ala2354Gly)
c.*6383C>G (n.*6383C>G)
c.230+13683C>G
c.7091C>G (p.Ala2364Gly)
c.6986C>G (p.Ala2329Gly)
c.6977C>G (p.Ala2326Gly)
c.6938C>G (p.Ala2313Gly)
c.6884C>G (p.Ala2295Gly)
c.6788C>G (p.Ala2263Gly)
c.6758C>G (p.Ala2253Gly)
c.6683C>G (p.Ala2228Gly)
c.6581C>G (p.Ala2194Gly)
c.6212C>G (p.Ala2071Gly)
ClinVar
5g.112842655C>TCA16036719APCc.7115C>T (p.Ala2372Val)
c.*7067C>T (n.*7067C>T)
c.7007C>T (p.Ala2336Val)
c.7061C>T (p.Ala2354Val)
c.*6383C>T (n.*6383C>T)
c.230+13683C>T
c.7091C>T (p.Ala2364Val)
c.6986C>T (p.Ala2329Val)
c.6977C>T (p.Ala2326Val)
c.6938C>T (p.Ala2313Val)
c.6884C>T (p.Ala2295Val)
c.6788C>T (p.Ala2263Val)
c.6758C>T (p.Ala2253Val)
c.6683C>T (p.Ala2228Val)
c.6581C>T (p.Ala2194Val)
c.6212C>T (p.Ala2071Val)
ClinVar dbSNP gnomAD v4
5g.112842656T>ACA446210823APCc.7116T>A (p.Ala2372=)
c.*7068T>A (n.*7068T>A)
c.7008T>A (p.Ala2336=)
c.7062T>A (p.Ala2354=)
c.*6384T>A (n.*6384T>A)
c.230+13684T>A
c.7092T>A (p.Ala2364=)
c.6987T>A (p.Ala2329=)
c.6978T>A (p.Ala2326=)
c.6939T>A (p.Ala2313=)
c.6885T>A (p.Ala2295=)
c.6789T>A (p.Ala2263=)
c.6759T>A (p.Ala2253=)
c.6684T>A (p.Ala2228=)
c.6582T>A (p.Ala2194=)
c.6213T>A (p.Ala2071=)
dbSNP
5g.112842656T>CCA446210824APCc.7116T>C (p.Ala2372=)
c.*7068T>C (n.*7068T>C)
c.7008T>C (p.Ala2336=)
c.7062T>C (p.Ala2354=)
c.*6384T>C (n.*6384T>C)
c.230+13684T>C
c.7092T>C (p.Ala2364=)
c.6987T>C (p.Ala2329=)
c.6978T>C (p.Ala2326=)
c.6939T>C (p.Ala2313=)
c.6885T>C (p.Ala2295=)
c.6789T>C (p.Ala2263=)
c.6759T>C (p.Ala2253=)
c.6684T>C (p.Ala2228=)
c.6582T>C (p.Ala2194=)
c.6213T>C (p.Ala2071=)
dbSNP
5g.112842656T>GCA446210826APCc.7116T>G (p.Ala2372=)
c.*7068T>G (n.*7068T>G)
c.7008T>G (p.Ala2336=)
c.7062T>G (p.Ala2354=)
c.*6384T>G (n.*6384T>G)
c.230+13684T>G
c.7092T>G (p.Ala2364=)
c.6987T>G (p.Ala2329=)
c.6978T>G (p.Ala2326=)
c.6939T>G (p.Ala2313=)
c.6885T>G (p.Ala2295=)
c.6789T>G (p.Ala2263=)
c.6759T>G (p.Ala2253=)
c.6684T>G (p.Ala2228=)
c.6582T>G (p.Ala2194=)
c.6213T>G (p.Ala2071=)
5g.112842657T>ACA16036720APCc.7117T>A (p.Ser2373Thr)
c.*7069T>A (n.*7069T>A)
c.7009T>A (p.Ser2337Thr)
c.7063T>A (p.Ser2355Thr)
c.*6385T>A (n.*6385T>A)
c.230+13685T>A
c.7093T>A (p.Ser2365Thr)
c.6988T>A (p.Ser2330Thr)
c.6979T>A (p.Ser2327Thr)
c.6940T>A (p.Ser2314Thr)
c.6886T>A (p.Ser2296Thr)
c.6790T>A (p.Ser2264Thr)
c.6760T>A (p.Ser2254Thr)
c.6685T>A (p.Ser2229Thr)
c.6583T>A (p.Ser2195Thr)
c.6214T>A (p.Ser2072Thr)
dbSNP
5g.112842657T>CCA16036721APCc.7117T>C (p.Ser2373Pro)
c.*7069T>C (n.*7069T>C)
c.7009T>C (p.Ser2337Pro)
c.7063T>C (p.Ser2355Pro)
c.*6385T>C (n.*6385T>C)
c.230+13685T>C
c.7093T>C (p.Ser2365Pro)
c.6988T>C (p.Ser2330Pro)
c.6979T>C (p.Ser2327Pro)
c.6940T>C (p.Ser2314Pro)
c.6886T>C (p.Ser2296Pro)
c.6790T>C (p.Ser2264Pro)
c.6760T>C (p.Ser2254Pro)
c.6685T>C (p.Ser2229Pro)
c.6583T>C (p.Ser2195Pro)
c.6214T>C (p.Ser2072Pro)
dbSNP
5g.112842657T>GCA16036722APCc.7117T>G (p.Ser2373Ala)
c.*7069T>G (n.*7069T>G)
c.7009T>G (p.Ser2337Ala)
c.7063T>G (p.Ser2355Ala)
c.*6385T>G (n.*6385T>G)
c.230+13685T>G
c.7093T>G (p.Ser2365Ala)
c.6988T>G (p.Ser2330Ala)
c.6979T>G (p.Ser2327Ala)
c.6940T>G (p.Ser2314Ala)
c.6886T>G (p.Ser2296Ala)
c.6790T>G (p.Ser2264Ala)
c.6760T>G (p.Ser2254Ala)
c.6685T>G (p.Ser2229Ala)
c.6583T>G (p.Ser2195Ala)
c.6214T>G (p.Ser2072Ala)
5g.112842658C>ACA16036723APCc.7118C>A (p.Ser2373Ter)
c.*7070C>A (n.*7070C>A)
c.7010C>A (p.Ser2337Ter)
c.7064C>A (p.Ser2355Ter)
c.*6386C>A (n.*6386C>A)
c.230+13686C>A
c.7094C>A (p.Ser2365Ter)
c.6989C>A (p.Ser2330Ter)
c.6980C>A (p.Ser2327Ter)
c.6941C>A (p.Ser2314Ter)
c.6887C>A (p.Ser2296Ter)
c.6791C>A (p.Ser2264Ter)
c.6761C>A (p.Ser2254Ter)
c.6686C>A (p.Ser2229Ter)
c.6584C>A (p.Ser2195Ter)
c.6215C>A (p.Ser2072Ter)
ClinVar
5g.112842658C=CA1573466497APCc.7118C= (p.Ser2373=)
c.*7070C= (n.*7070C=)
c.7010C= (p.Ser2337=)
c.7064C= (p.Ser2355=)
c.*6386C= (n.*6386C=)
c.230+13686C=
c.7094C= (p.Ser2365=)
c.6989C= (p.Ser2330=)
c.6980C= (p.Ser2327=)
c.6941C= (p.Ser2314=)
c.6887C= (p.Ser2296=)
c.6791C= (p.Ser2264=)
c.6761C= (p.Ser2254=)
c.6686C= (p.Ser2229=)
c.6584C= (p.Ser2195=)
c.6215C= (p.Ser2072=)
5g.112842658C>GCA16036724APCc.7118C>G (p.Ser2373Ter)
c.*7070C>G (n.*7070C>G)
c.7010C>G (p.Ser2337Ter)
c.7064C>G (p.Ser2355Ter)
c.*6386C>G (n.*6386C>G)
c.230+13686C>G
c.7094C>G (p.Ser2365Ter)
c.6989C>G (p.Ser2330Ter)
c.6980C>G (p.Ser2327Ter)
c.6941C>G (p.Ser2314Ter)
c.6887C>G (p.Ser2296Ter)
c.6791C>G (p.Ser2264Ter)
c.6761C>G (p.Ser2254Ter)
c.6686C>G (p.Ser2229Ter)
c.6584C>G (p.Ser2195Ter)
c.6215C>G (p.Ser2072Ter)
5g.112842658C>TCA16036725APCc.7118C>T (p.Ser2373Leu)
c.*7070C>T (n.*7070C>T)
c.7010C>T (p.Ser2337Leu)
c.7064C>T (p.Ser2355Leu)
c.*6386C>T (n.*6386C>T)
c.230+13686C>T
c.7094C>T (p.Ser2365Leu)
c.6989C>T (p.Ser2330Leu)
c.6980C>T (p.Ser2327Leu)
c.6941C>T (p.Ser2314Leu)
c.6887C>T (p.Ser2296Leu)
c.6791C>T (p.Ser2264Leu)
c.6761C>T (p.Ser2254Leu)
c.6686C>T (p.Ser2229Leu)
c.6584C>T (p.Ser2195Leu)
c.6215C>T (p.Ser2072Leu)
dbSNP gnomAD v4
5g.112842659A>CCA446210832APCc.7119A>C (p.Ser2373=)
c.*7071A>C (n.*7071A>C)
c.7011A>C (p.Ser2337=)
c.7065A>C (p.Ser2355=)
c.*6387A>C (n.*6387A>C)
c.230+13687A>C
c.7095A>C (p.Ser2365=)
c.6990A>C (p.Ser2330=)
c.6981A>C (p.Ser2327=)
c.6942A>C (p.Ser2314=)
c.6888A>C (p.Ser2296=)
c.6792A>C (p.Ser2264=)
c.6762A>C (p.Ser2254=)
c.6687A>C (p.Ser2229=)
c.6585A>C (p.Ser2195=)
c.6216A>C (p.Ser2072=)
5g.112842659A>GCA446210833APCc.7119A>G (p.Ser2373=)
c.*7071A>G (n.*7071A>G)
c.7011A>G (p.Ser2337=)
c.7065A>G (p.Ser2355=)
c.*6387A>G (n.*6387A>G)
c.230+13687A>G
c.7095A>G (p.Ser2365=)
c.6990A>G (p.Ser2330=)
c.6981A>G (p.Ser2327=)
c.6942A>G (p.Ser2314=)
c.6888A>G (p.Ser2296=)
c.6792A>G (p.Ser2264=)
c.6762A>G (p.Ser2254=)
c.6687A>G (p.Ser2229=)
c.6585A>G (p.Ser2195=)
c.6216A>G (p.Ser2072=)
5g.112842659A>TCA446210834APCc.7119A>T (p.Ser2373=)
c.*7071A>T (n.*7071A>T)
c.7011A>T (p.Ser2337=)
c.7065A>T (p.Ser2355=)
c.*6387A>T (n.*6387A>T)
c.230+13687A>T
c.7095A>T (p.Ser2365=)
c.6990A>T (p.Ser2330=)
c.6981A>T (p.Ser2327=)
c.6942A>T (p.Ser2314=)
c.6888A>T (p.Ser2296=)
c.6792A>T (p.Ser2264=)
c.6762A>T (p.Ser2254=)
c.6687A>T (p.Ser2229=)
c.6585A>T (p.Ser2195=)
c.6216A>T (p.Ser2072=)
dbSNP
5g.112842660A=CA1573466507APCc.7120A= (p.Thr2374=)
c.*7072A= (n.*7072A=)
c.7012A= (p.Thr2338=)
c.7066A= (p.Thr2356=)
c.*6388A= (n.*6388A=)
c.230+13688A=
c.7096A= (p.Thr2366=)
c.6991A= (p.Thr2331=)
c.6982A= (p.Thr2328=)
c.6943A= (p.Thr2315=)
c.6889A= (p.Thr2297=)
c.6793A= (p.Thr2265=)
c.6763A= (p.Thr2255=)
c.6688A= (p.Thr2230=)
c.6586A= (p.Thr2196=)
c.6217A= (p.Thr2073=)
5g.112842660A>CCA16036726APCc.7120A>C (p.Thr2374Pro)
c.*7072A>C (n.*7072A>C)
c.7012A>C (p.Thr2338Pro)
c.7066A>C (p.Thr2356Pro)
c.*6388A>C (n.*6388A>C)
c.230+13688A>C
c.7096A>C (p.Thr2366Pro)
c.6991A>C (p.Thr2331Pro)
c.6982A>C (p.Thr2328Pro)
c.6943A>C (p.Thr2315Pro)
c.6889A>C (p.Thr2297Pro)
c.6793A>C (p.Thr2265Pro)
c.6763A>C (p.Thr2255Pro)
c.6688A>C (p.Thr2230Pro)
c.6586A>C (p.Thr2196Pro)
c.6217A>C (p.Thr2073Pro)
ClinVar dbSNP
5g.112842660A>GCA046771APCc.7120A>G (p.Thr2374Ala)
c.*7072A>G (n.*7072A>G)
c.7012A>G (p.Thr2338Ala)
c.7066A>G (p.Thr2356Ala)
c.*6388A>G (n.*6388A>G)
c.230+13688A>G
c.7096A>G (p.Thr2366Ala)
c.6991A>G (p.Thr2331Ala)
c.6982A>G (p.Thr2328Ala)
c.6943A>G (p.Thr2315Ala)
c.6889A>G (p.Thr2297Ala)
c.6793A>G (p.Thr2265Ala)
c.6763A>G (p.Thr2255Ala)
c.6688A>G (p.Thr2230Ala)
c.6586A>G (p.Thr2196Ala)
c.6217A>G (p.Thr2073Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842660A>TCA16036727APCc.7120A>T (p.Thr2374Ser)
c.*7072A>T (n.*7072A>T)
c.7012A>T (p.Thr2338Ser)
c.7066A>T (p.Thr2356Ser)
c.*6388A>T (n.*6388A>T)
c.230+13688A>T
c.7096A>T (p.Thr2366Ser)
c.6991A>T (p.Thr2331Ser)
c.6982A>T (p.Thr2328Ser)
c.6943A>T (p.Thr2315Ser)
c.6889A>T (p.Thr2297Ser)
c.6793A>T (p.Thr2265Ser)
c.6763A>T (p.Thr2255Ser)
c.6688A>T (p.Thr2230Ser)
c.6586A>T (p.Thr2196Ser)
c.6217A>T (p.Thr2073Ser)
ClinVar dbSNP
5g.112842661C>ACA16036728APCc.7121C>A (p.Thr2374Asn)
c.*7073C>A (n.*7073C>A)
c.7013C>A (p.Thr2338Asn)
c.7067C>A (p.Thr2356Asn)
c.*6389C>A (n.*6389C>A)
c.230+13689C>A
c.7097C>A (p.Thr2366Asn)
c.6992C>A (p.Thr2331Asn)
c.6983C>A (p.Thr2328Asn)
c.6944C>A (p.Thr2315Asn)
c.6890C>A (p.Thr2297Asn)
c.6794C>A (p.Thr2265Asn)
c.6764C>A (p.Thr2255Asn)
c.6689C>A (p.Thr2230Asn)
c.6587C>A (p.Thr2196Asn)
c.6218C>A (p.Thr2073Asn)
dbSNP
5g.112842661C>GCA16036729APCc.7121C>G (p.Thr2374Ser)
c.*7073C>G (n.*7073C>G)
c.7013C>G (p.Thr2338Ser)
c.7067C>G (p.Thr2356Ser)
c.*6389C>G (n.*6389C>G)
c.230+13689C>G
c.7097C>G (p.Thr2366Ser)
c.6992C>G (p.Thr2331Ser)
c.6983C>G (p.Thr2328Ser)
c.6944C>G (p.Thr2315Ser)
c.6890C>G (p.Thr2297Ser)
c.6794C>G (p.Thr2265Ser)
c.6764C>G (p.Thr2255Ser)
c.6689C>G (p.Thr2230Ser)
c.6587C>G (p.Thr2196Ser)
c.6218C>G (p.Thr2073Ser)
dbSNP
5g.112842661C>TCA16036730APCc.7121C>T (p.Thr2374Ile)
c.*7073C>T (n.*7073C>T)
c.7013C>T (p.Thr2338Ile)
c.7067C>T (p.Thr2356Ile)
c.*6389C>T (n.*6389C>T)
c.230+13689C>T
c.7097C>T (p.Thr2366Ile)
c.6992C>T (p.Thr2331Ile)
c.6983C>T (p.Thr2328Ile)
c.6944C>T (p.Thr2315Ile)
c.6890C>T (p.Thr2297Ile)
c.6794C>T (p.Thr2265Ile)
c.6764C>T (p.Thr2255Ile)
c.6689C>T (p.Thr2230Ile)
c.6587C>T (p.Thr2196Ile)
c.6218C>T (p.Thr2073Ile)
dbSNP
5g.112842662T>ACA446210839APCc.7122T>A (p.Thr2374=)
c.*7074T>A (n.*7074T>A)
c.7014T>A (p.Thr2338=)
c.7068T>A (p.Thr2356=)
c.*6390T>A (n.*6390T>A)
c.230+13690T>A
c.7098T>A (p.Thr2366=)
c.6993T>A (p.Thr2331=)
c.6984T>A (p.Thr2328=)
c.6945T>A (p.Thr2315=)
c.6891T>A (p.Thr2297=)
c.6795T>A (p.Thr2265=)
c.6765T>A (p.Thr2255=)
c.6690T>A (p.Thr2230=)
c.6588T>A (p.Thr2196=)
c.6219T>A (p.Thr2073=)
5g.112842662T>CCA446210840APCc.7122T>C (p.Thr2374=)
c.*7074T>C (n.*7074T>C)
c.7014T>C (p.Thr2338=)
c.7068T>C (p.Thr2356=)
c.*6390T>C (n.*6390T>C)
c.230+13690T>C
c.7098T>C (p.Thr2366=)
c.6993T>C (p.Thr2331=)
c.6984T>C (p.Thr2328=)
c.6945T>C (p.Thr2315=)
c.6891T>C (p.Thr2297=)
c.6795T>C (p.Thr2265=)
c.6765T>C (p.Thr2255=)
c.6690T>C (p.Thr2230=)
c.6588T>C (p.Thr2196=)
c.6219T>C (p.Thr2073=)
5g.112842662T>GCA446210841APCc.7122T>G (p.Thr2374=)
c.*7074T>G (n.*7074T>G)
c.7014T>G (p.Thr2338=)
c.7068T>G (p.Thr2356=)
c.*6390T>G (n.*6390T>G)
c.230+13690T>G
c.7098T>G (p.Thr2366=)
c.6993T>G (p.Thr2331=)
c.6984T>G (p.Thr2328=)
c.6945T>G (p.Thr2315=)
c.6891T>G (p.Thr2297=)
c.6795T>G (p.Thr2265=)
c.6765T>G (p.Thr2255=)
c.6690T>G (p.Thr2230=)
c.6588T>G (p.Thr2196=)
c.6219T>G (p.Thr2073=)
5g.112842662_112842663insCAATTTCCCCTGGTAGACA2543759261APCc.7122_7123insCAATTTCCCCTGGTAGA (p.Lys2375GlnfsTer23)
c.*7074_*7075insCAATTTCCCCTGGTAGA (n.*7074_*7075insCAATTTCCCCTGGTAGA)
c.7014_7015insCAATTTCCCCTGGTAGA (p.Lys2339GlnfsTer23)
c.7068_7069insCAATTTCCCCTGGTAGA (p.Lys2357GlnfsTer23)
c.*6390_*6391insCAATTTCCCCTGGTAGA (n.*6390_*6391insCAATTTCCCCTGGTAGA)
c.230+13690_230+13691insCAATTTCCCCTGGTAGA
c.7098_7099insCAATTTCCCCTGGTAGA (p.Lys2367GlnfsTer23)
c.6993_6994insCAATTTCCCCTGGTAGA (p.Lys2332GlnfsTer23)
c.6984_6985insCAATTTCCCCTGGTAGA (p.Lys2329GlnfsTer23)
c.6945_6946insCAATTTCCCCTGGTAGA (p.Lys2316GlnfsTer23)
c.6891_6892insCAATTTCCCCTGGTAGA (p.Lys2298GlnfsTer23)
c.6795_6796insCAATTTCCCCTGGTAGA (p.Lys2266GlnfsTer23)
c.6765_6766insCAATTTCCCCTGGTAGA (p.Lys2256GlnfsTer23)
c.6690_6691insCAATTTCCCCTGGTAGA (p.Lys2231GlnfsTer23)
c.6588_6589insCAATTTCCCCTGGTAGA (p.Lys2197GlnfsTer23)
c.6219_6220insCAATTTCCCCTGGTAGA (p.Lys2074GlnfsTer23)
5g.112842663A=CA1573466515APCc.7123A= (p.Lys2375=)
c.*7075A= (n.*7075A=)
c.7015A= (p.Lys2339=)
c.7069A= (p.Lys2357=)
c.*6391A= (n.*6391A=)
c.230+13691A=
c.7099A= (p.Lys2367=)
c.6994A= (p.Lys2332=)
c.6985A= (p.Lys2329=)
c.6946A= (p.Lys2316=)
c.6892A= (p.Lys2298=)
c.6796A= (p.Lys2266=)
c.6766A= (p.Lys2256=)
c.6691A= (p.Lys2231=)
c.6589A= (p.Lys2197=)
c.6220A= (p.Lys2074=)
5g.112842663A>CCA16036731APCc.7123A>C (p.Lys2375Gln)
c.*7075A>C (n.*7075A>C)
c.7015A>C (p.Lys2339Gln)
c.7069A>C (p.Lys2357Gln)
c.*6391A>C (n.*6391A>C)
c.230+13691A>C
c.7099A>C (p.Lys2367Gln)
c.6994A>C (p.Lys2332Gln)
c.6985A>C (p.Lys2329Gln)
c.6946A>C (p.Lys2316Gln)
c.6892A>C (p.Lys2298Gln)
c.6796A>C (p.Lys2266Gln)
c.6766A>C (p.Lys2256Gln)
c.6691A>C (p.Lys2231Gln)
c.6589A>C (p.Lys2197Gln)
c.6220A>C (p.Lys2074Gln)
dbSNP
5g.112842663A>GCA16036732APCc.7123A>G (p.Lys2375Glu)
c.*7075A>G (n.*7075A>G)
c.7015A>G (p.Lys2339Glu)
c.7069A>G (p.Lys2357Glu)
c.*6391A>G (n.*6391A>G)
c.230+13691A>G
c.7099A>G (p.Lys2367Glu)
c.6994A>G (p.Lys2332Glu)
c.6985A>G (p.Lys2329Glu)
c.6946A>G (p.Lys2316Glu)
c.6892A>G (p.Lys2298Glu)
c.6796A>G (p.Lys2266Glu)
c.6766A>G (p.Lys2256Glu)
c.6691A>G (p.Lys2231Glu)
c.6589A>G (p.Lys2197Glu)
c.6220A>G (p.Lys2074Glu)
ClinVar dbSNP gnomAD v4
5g.112842663A>TCA16036733APCc.7123A>T (p.Lys2375Ter)
c.*7075A>T (n.*7075A>T)
c.7015A>T (p.Lys2339Ter)
c.7069A>T (p.Lys2357Ter)
c.*6391A>T (n.*6391A>T)
c.230+13691A>T
c.7099A>T (p.Lys2367Ter)
c.6994A>T (p.Lys2332Ter)
c.6985A>T (p.Lys2329Ter)
c.6946A>T (p.Lys2316Ter)
c.6892A>T (p.Lys2298Ter)
c.6796A>T (p.Lys2266Ter)
c.6766A>T (p.Lys2256Ter)
c.6691A>T (p.Lys2231Ter)
c.6589A>T (p.Lys2197Ter)
c.6220A>T (p.Lys2074Ter)
ClinVar dbSNP
5g.112842664A>CCA16036734APCc.7124A>C (p.Lys2375Thr)
c.*7076A>C (n.*7076A>C)
c.7016A>C (p.Lys2339Thr)
c.7070A>C (p.Lys2357Thr)
c.*6392A>C (n.*6392A>C)
c.230+13692A>C
c.7100A>C (p.Lys2367Thr)
c.6995A>C (p.Lys2332Thr)
c.6986A>C (p.Lys2329Thr)
c.6947A>C (p.Lys2316Thr)
c.6893A>C (p.Lys2298Thr)
c.6797A>C (p.Lys2266Thr)
c.6767A>C (p.Lys2256Thr)
c.6692A>C (p.Lys2231Thr)
c.6590A>C (p.Lys2197Thr)
c.6221A>C (p.Lys2074Thr)
COSMIC
5g.112842664A>GCA16036735APCc.7124A>G (p.Lys2375Arg)
c.*7076A>G (n.*7076A>G)
c.7016A>G (p.Lys2339Arg)
c.7070A>G (p.Lys2357Arg)
c.*6392A>G (n.*6392A>G)
c.230+13692A>G
c.7100A>G (p.Lys2367Arg)
c.6995A>G (p.Lys2332Arg)
c.6986A>G (p.Lys2329Arg)
c.6947A>G (p.Lys2316Arg)
c.6893A>G (p.Lys2298Arg)
c.6797A>G (p.Lys2266Arg)
c.6767A>G (p.Lys2256Arg)
c.6692A>G (p.Lys2231Arg)
c.6590A>G (p.Lys2197Arg)
c.6221A>G (p.Lys2074Arg)
dbSNP
5g.112842664A>TCA16036736APCc.7124A>T (p.Lys2375Met)
c.*7076A>T (n.*7076A>T)
c.7016A>T (p.Lys2339Met)
c.7070A>T (p.Lys2357Met)
c.*6392A>T (n.*6392A>T)
c.230+13692A>T
c.7100A>T (p.Lys2367Met)
c.6995A>T (p.Lys2332Met)
c.6986A>T (p.Lys2329Met)
c.6947A>T (p.Lys2316Met)
c.6893A>T (p.Lys2298Met)
c.6797A>T (p.Lys2266Met)
c.6767A>T (p.Lys2256Met)
c.6692A>T (p.Lys2231Met)
c.6590A>T (p.Lys2197Met)
c.6221A>T (p.Lys2074Met)
dbSNP
5g.112842665G>ACA446210842APCc.7125G>A (p.Lys2375=)
c.*7077G>A (n.*7077G>A)
c.7017G>A (p.Lys2339=)
c.7071G>A (p.Lys2357=)
c.*6393G>A (n.*6393G>A)
c.230+13693G>A
c.7101G>A (p.Lys2367=)
c.6996G>A (p.Lys2332=)
c.6987G>A (p.Lys2329=)
c.6948G>A (p.Lys2316=)
c.6894G>A (p.Lys2298=)
c.6798G>A (p.Lys2266=)
c.6768G>A (p.Lys2256=)
c.6693G>A (p.Lys2231=)
c.6591G>A (p.Lys2197=)
c.6222G>A (p.Lys2074=)
dbSNP gnomAD v4
5g.112842665G>CCA16036737APCc.7125G>C (p.Lys2375Asn)
c.*7077G>C (n.*7077G>C)
c.7017G>C (p.Lys2339Asn)
c.7071G>C (p.Lys2357Asn)
c.*6393G>C (n.*6393G>C)
c.230+13693G>C
c.7101G>C (p.Lys2367Asn)
c.6996G>C (p.Lys2332Asn)
c.6987G>C (p.Lys2329Asn)
c.6948G>C (p.Lys2316Asn)
c.6894G>C (p.Lys2298Asn)
c.6798G>C (p.Lys2266Asn)
c.6768G>C (p.Lys2256Asn)
c.6693G>C (p.Lys2231Asn)
c.6591G>C (p.Lys2197Asn)
c.6222G>C (p.Lys2074Asn)
ClinVar dbSNP gnomAD v4
5g.112842665G=CA1573466532APCc.7125G= (p.Lys2375=)
c.*7077G= (n.*7077G=)
c.7017G= (p.Lys2339=)
c.7071G= (p.Lys2357=)
c.*6393G= (n.*6393G=)
c.230+13693G=
c.7101G= (p.Lys2367=)
c.6996G= (p.Lys2332=)
c.6987G= (p.Lys2329=)
c.6948G= (p.Lys2316=)
c.6894G= (p.Lys2298=)
c.6798G= (p.Lys2266=)
c.6768G= (p.Lys2256=)
c.6693G= (p.Lys2231=)
c.6591G= (p.Lys2197=)
c.6222G= (p.Lys2074=)
5g.112842665G>TCA16036738APCc.7125G>T (p.Lys2375Asn)
c.*7077G>T (n.*7077G>T)
c.7017G>T (p.Lys2339Asn)
c.7071G>T (p.Lys2357Asn)
c.*6393G>T (n.*6393G>T)
c.230+13693G>T
c.7101G>T (p.Lys2367Asn)
c.6996G>T (p.Lys2332Asn)
c.6987G>T (p.Lys2329Asn)
c.6948G>T (p.Lys2316Asn)
c.6894G>T (p.Lys2298Asn)
c.6798G>T (p.Lys2266Asn)
c.6768G>T (p.Lys2256Asn)
c.6693G>T (p.Lys2231Asn)
c.6591G>T (p.Lys2197Asn)
c.6222G>T (p.Lys2074Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842666T>ACA16036739APCc.7126T>A (p.Ser2376Thr)
c.*7078T>A (n.*7078T>A)
c.7018T>A (p.Ser2340Thr)
c.7072T>A (p.Ser2358Thr)
c.*6394T>A (n.*6394T>A)
c.230+13694T>A
c.7102T>A (p.Ser2368Thr)
c.6997T>A (p.Ser2333Thr)
c.6988T>A (p.Ser2330Thr)
c.6949T>A (p.Ser2317Thr)
c.6895T>A (p.Ser2299Thr)
c.6799T>A (p.Ser2267Thr)
c.6769T>A (p.Ser2257Thr)
c.6694T>A (p.Ser2232Thr)
c.6592T>A (p.Ser2198Thr)
c.6223T>A (p.Ser2075Thr)
dbSNP
5g.112842666T>CCA16036740APCc.7126T>C (p.Ser2376Pro)
c.*7078T>C (n.*7078T>C)
c.7018T>C (p.Ser2340Pro)
c.7072T>C (p.Ser2358Pro)
c.*6394T>C (n.*6394T>C)
c.230+13694T>C
c.7102T>C (p.Ser2368Pro)
c.6997T>C (p.Ser2333Pro)
c.6988T>C (p.Ser2330Pro)
c.6949T>C (p.Ser2317Pro)
c.6895T>C (p.Ser2299Pro)
c.6799T>C (p.Ser2267Pro)
c.6769T>C (p.Ser2257Pro)
c.6694T>C (p.Ser2232Pro)
c.6592T>C (p.Ser2198Pro)
c.6223T>C (p.Ser2075Pro)
dbSNP
5g.112842666T>GCA16036741APCc.7126T>G (p.Ser2376Ala)
c.*7078T>G (n.*7078T>G)
c.7018T>G (p.Ser2340Ala)
c.7072T>G (p.Ser2358Ala)
c.*6394T>G (n.*6394T>G)
c.230+13694T>G
c.7102T>G (p.Ser2368Ala)
c.6997T>G (p.Ser2333Ala)
c.6988T>G (p.Ser2330Ala)
c.6949T>G (p.Ser2317Ala)
c.6895T>G (p.Ser2299Ala)
c.6799T>G (p.Ser2267Ala)
c.6769T>G (p.Ser2257Ala)
c.6694T>G (p.Ser2232Ala)
c.6592T>G (p.Ser2198Ala)
c.6223T>G (p.Ser2075Ala)
dbSNP
5g.112842667C>ACA16036742APCc.7127C>A (p.Ser2376Tyr)
c.*7079C>A (n.*7079C>A)
c.7019C>A (p.Ser2340Tyr)
c.7073C>A (p.Ser2358Tyr)
c.*6395C>A (n.*6395C>A)
c.230+13695C>A
c.7103C>A (p.Ser2368Tyr)
c.6998C>A (p.Ser2333Tyr)
c.6989C>A (p.Ser2330Tyr)
c.6950C>A (p.Ser2317Tyr)
c.6896C>A (p.Ser2299Tyr)
c.6800C>A (p.Ser2267Tyr)
c.6770C>A (p.Ser2257Tyr)
c.6695C>A (p.Ser2232Tyr)
c.6593C>A (p.Ser2198Tyr)
c.6224C>A (p.Ser2075Tyr)
dbSNP
5g.112842667C=CA1573466547APCc.7127C= (p.Ser2376=)
c.*7079C= (n.*7079C=)
c.7019C= (p.Ser2340=)
c.7073C= (p.Ser2358=)
c.*6395C= (n.*6395C=)
c.230+13695C=
c.7103C= (p.Ser2368=)
c.6998C= (p.Ser2333=)
c.6989C= (p.Ser2330=)
c.6950C= (p.Ser2317=)
c.6896C= (p.Ser2299=)
c.6800C= (p.Ser2267=)
c.6770C= (p.Ser2257=)
c.6695C= (p.Ser2232=)
c.6593C= (p.Ser2198=)
c.6224C= (p.Ser2075=)
5g.112842667C>GCA16036743APCc.7127C>G (p.Ser2376Cys)
c.*7079C>G (n.*7079C>G)
c.7019C>G (p.Ser2340Cys)
c.7073C>G (p.Ser2358Cys)
c.*6395C>G (n.*6395C>G)
c.230+13695C>G
c.7103C>G (p.Ser2368Cys)
c.6998C>G (p.Ser2333Cys)
c.6989C>G (p.Ser2330Cys)
c.6950C>G (p.Ser2317Cys)
c.6896C>G (p.Ser2299Cys)
c.6800C>G (p.Ser2267Cys)
c.6770C>G (p.Ser2257Cys)
c.6695C>G (p.Ser2232Cys)
c.6593C>G (p.Ser2198Cys)
c.6224C>G (p.Ser2075Cys)
dbSNP
5g.112842667C>TCA16036744APCc.7127C>T (p.Ser2376Phe)
c.*7079C>T (n.*7079C>T)
c.7019C>T (p.Ser2340Phe)
c.7073C>T (p.Ser2358Phe)
c.*6395C>T (n.*6395C>T)
c.230+13695C>T
c.7103C>T (p.Ser2368Phe)
c.6998C>T (p.Ser2333Phe)
c.6989C>T (p.Ser2330Phe)
c.6950C>T (p.Ser2317Phe)
c.6896C>T (p.Ser2299Phe)
c.6800C>T (p.Ser2267Phe)
c.6770C>T (p.Ser2257Phe)
c.6695C>T (p.Ser2232Phe)
c.6593C>T (p.Ser2198Phe)
c.6224C>T (p.Ser2075Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112842668delCA2582341618APCc.7128del (p.Ser2377GlnfsTer15)
c.*7080del (n.*7080del)
c.7020del (p.Ser2341GlnfsTer15)
c.7074del (p.Ser2359GlnfsTer15)
c.*6396del (n.*6396del)
c.230+13696del
c.7104del (p.Ser2369GlnfsTer15)
c.6999del (p.Ser2334GlnfsTer15)
c.6990del (p.Ser2331GlnfsTer15)
c.6951del (p.Ser2318GlnfsTer15)
c.6897del (p.Ser2300GlnfsTer15)
c.6801del (p.Ser2268GlnfsTer15)
c.6771del (p.Ser2258GlnfsTer15)
c.6696del (p.Ser2233GlnfsTer15)
c.6594del (p.Ser2199GlnfsTer15)
c.6225del (p.Ser2076GlnfsTer15)
ClinVar
5g.112842668C>ACA446210845APCc.7128C>A (p.Ser2376=)
c.*7080C>A (n.*7080C>A)
c.7020C>A (p.Ser2340=)
c.7074C>A (p.Ser2358=)
c.*6396C>A (n.*6396C>A)
c.230+13696C>A
c.7104C>A (p.Ser2368=)
c.6999C>A (p.Ser2333=)
c.6990C>A (p.Ser2330=)
c.6951C>A (p.Ser2317=)
c.6897C>A (p.Ser2299=)
c.6801C>A (p.Ser2267=)
c.6771C>A (p.Ser2257=)
c.6696C>A (p.Ser2232=)
c.6594C>A (p.Ser2198=)
c.6225C>A (p.Ser2075=)
dbSNP gnomAD v4 COSMIC
5g.112842668C=CA1573466566APCc.7128C= (p.Ser2376=)
c.*7080C= (n.*7080C=)
c.7020C= (p.Ser2340=)
c.7074C= (p.Ser2358=)
c.*6396C= (n.*6396C=)
c.230+13696C=
c.7104C= (p.Ser2368=)
c.6999C= (p.Ser2333=)
c.6990C= (p.Ser2330=)
c.6951C= (p.Ser2317=)
c.6897C= (p.Ser2299=)
c.6801C= (p.Ser2267=)
c.6771C= (p.Ser2257=)
c.6696C= (p.Ser2232=)
c.6594C= (p.Ser2198=)
c.6225C= (p.Ser2075=)
5g.112842668C>GCA446210846APCc.7128C>G (p.Ser2376=)
c.*7080C>G (n.*7080C>G)
c.7020C>G (p.Ser2340=)
c.7074C>G (p.Ser2358=)
c.*6396C>G (n.*6396C>G)
c.230+13696C>G
c.7104C>G (p.Ser2368=)
c.6999C>G (p.Ser2333=)
c.6990C>G (p.Ser2330=)
c.6951C>G (p.Ser2317=)
c.6897C>G (p.Ser2299=)
c.6801C>G (p.Ser2267=)
c.6771C>G (p.Ser2257=)
c.6696C>G (p.Ser2232=)
c.6594C>G (p.Ser2198=)
c.6225C>G (p.Ser2075=)
ClinVar dbSNP
5g.112842668C>TCA446210847APCc.7128C>T (p.Ser2376=)
c.*7080C>T (n.*7080C>T)
c.7020C>T (p.Ser2340=)
c.7074C>T (p.Ser2358=)
c.*6396C>T (n.*6396C>T)
c.230+13696C>T
c.7104C>T (p.Ser2368=)
c.6999C>T (p.Ser2333=)
c.6990C>T (p.Ser2330=)
c.6951C>T (p.Ser2317=)
c.6897C>T (p.Ser2299=)
c.6801C>T (p.Ser2267=)
c.6771C>T (p.Ser2257=)
c.6696C>T (p.Ser2232=)
c.6594C>T (p.Ser2198=)
c.6225C>T (p.Ser2075=)
ClinVar dbSNP gnomAD v4
5g.112842669T>ACA16036745APCc.7129T>A (p.Ser2377Thr)
c.*7081T>A (n.*7081T>A)
c.7021T>A (p.Ser2341Thr)
c.7075T>A (p.Ser2359Thr)
c.*6397T>A (n.*6397T>A)
c.230+13697T>A
c.7105T>A (p.Ser2369Thr)
c.7000T>A (p.Ser2334Thr)
c.6991T>A (p.Ser2331Thr)
c.6952T>A (p.Ser2318Thr)
c.6898T>A (p.Ser2300Thr)
c.6802T>A (p.Ser2268Thr)
c.6772T>A (p.Ser2258Thr)
c.6697T>A (p.Ser2233Thr)
c.6595T>A (p.Ser2199Thr)
c.6226T>A (p.Ser2076Thr)
dbSNP
5g.112842669T>CCA16036746APCc.7129T>C (p.Ser2377Pro)
c.*7081T>C (n.*7081T>C)
c.7021T>C (p.Ser2341Pro)
c.7075T>C (p.Ser2359Pro)
c.*6397T>C (n.*6397T>C)
c.230+13697T>C
c.7105T>C (p.Ser2369Pro)
c.7000T>C (p.Ser2334Pro)
c.6991T>C (p.Ser2331Pro)
c.6952T>C (p.Ser2318Pro)
c.6898T>C (p.Ser2300Pro)
c.6802T>C (p.Ser2268Pro)
c.6772T>C (p.Ser2258Pro)
c.6697T>C (p.Ser2233Pro)
c.6595T>C (p.Ser2199Pro)
c.6226T>C (p.Ser2076Pro)
ClinVar dbSNP
5g.112842669T>GCA046787APCc.7129T>G (p.Ser2377Ala)
c.*7081T>G (n.*7081T>G)
c.7021T>G (p.Ser2341Ala)
c.7075T>G (p.Ser2359Ala)
c.*6397T>G (n.*6397T>G)
c.230+13697T>G
c.7105T>G (p.Ser2369Ala)
c.7000T>G (p.Ser2334Ala)
c.6991T>G (p.Ser2331Ala)
c.6952T>G (p.Ser2318Ala)
c.6898T>G (p.Ser2300Ala)
c.6802T>G (p.Ser2268Ala)
c.6772T>G (p.Ser2258Ala)
c.6697T>G (p.Ser2233Ala)
c.6595T>G (p.Ser2199Ala)
c.6226T>G (p.Ser2076Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842669T=CA1573466574APCc.7129T= (p.Ser2377=)
c.*7081T= (n.*7081T=)
c.7021T= (p.Ser2341=)
c.7075T= (p.Ser2359=)
c.*6397T= (n.*6397T=)
c.230+13697T=
c.7105T= (p.Ser2369=)
c.7000T= (p.Ser2334=)
c.6991T= (p.Ser2331=)
c.6952T= (p.Ser2318=)
c.6898T= (p.Ser2300=)
c.6802T= (p.Ser2268=)
c.6772T= (p.Ser2258=)
c.6697T= (p.Ser2233=)
c.6595T= (p.Ser2199=)
c.6226T= (p.Ser2076=)
5g.112842670C>ACA16036747APCc.7130C>A (p.Ser2377Ter)
c.*7082C>A (n.*7082C>A)
c.7022C>A (p.Ser2341Ter)
c.7076C>A (p.Ser2359Ter)
c.*6398C>A (n.*6398C>A)
c.230+13698C>A
c.7106C>A (p.Ser2369Ter)
c.7001C>A (p.Ser2334Ter)
c.6992C>A (p.Ser2331Ter)
c.6953C>A (p.Ser2318Ter)
c.6899C>A (p.Ser2300Ter)
c.6803C>A (p.Ser2268Ter)
c.6773C>A (p.Ser2258Ter)
c.6698C>A (p.Ser2233Ter)
c.6596C>A (p.Ser2199Ter)
c.6227C>A (p.Ser2076Ter)
dbSNP COSMIC
5g.112842670C=CA1573466584APCc.7130C= (p.Ser2377=)
c.*7082C= (n.*7082C=)
c.7022C= (p.Ser2341=)
c.7076C= (p.Ser2359=)
c.*6398C= (n.*6398C=)
c.230+13698C=
c.7106C= (p.Ser2369=)
c.7001C= (p.Ser2334=)
c.6992C= (p.Ser2331=)
c.6953C= (p.Ser2318=)
c.6899C= (p.Ser2300=)
c.6803C= (p.Ser2268=)
c.6773C= (p.Ser2258=)
c.6698C= (p.Ser2233=)
c.6596C= (p.Ser2199=)
c.6227C= (p.Ser2076=)
5g.112842670C>GCA16036748APCc.7130C>G (p.Ser2377Ter)
c.*7082C>G (n.*7082C>G)
c.7022C>G (p.Ser2341Ter)
c.7076C>G (p.Ser2359Ter)
c.*6398C>G (n.*6398C>G)
c.230+13698C>G
c.7106C>G (p.Ser2369Ter)
c.7001C>G (p.Ser2334Ter)
c.6992C>G (p.Ser2331Ter)
c.6953C>G (p.Ser2318Ter)
c.6899C>G (p.Ser2300Ter)
c.6803C>G (p.Ser2268Ter)
c.6773C>G (p.Ser2258Ter)
c.6698C>G (p.Ser2233Ter)
c.6596C>G (p.Ser2199Ter)
c.6227C>G (p.Ser2076Ter)
dbSNP
5g.112842670C>TCA16036749APCc.7130C>T (p.Ser2377Leu)
c.*7082C>T (n.*7082C>T)
c.7022C>T (p.Ser2341Leu)
c.7076C>T (p.Ser2359Leu)
c.*6398C>T (n.*6398C>T)
c.230+13698C>T
c.7106C>T (p.Ser2369Leu)
c.7001C>T (p.Ser2334Leu)
c.6992C>T (p.Ser2331Leu)
c.6953C>T (p.Ser2318Leu)
c.6899C>T (p.Ser2300Leu)
c.6803C>T (p.Ser2268Leu)
c.6773C>T (p.Ser2258Leu)
c.6698C>T (p.Ser2233Leu)
c.6596C>T (p.Ser2199Leu)
c.6227C>T (p.Ser2076Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842671A=CA1573466595APCc.7131A= (p.Ser2377=)
c.*7083A= (n.*7083A=)
c.7023A= (p.Ser2341=)
c.7077A= (p.Ser2359=)
c.*6399A= (n.*6399A=)
c.230+13699A=
c.7107A= (p.Ser2369=)
c.7002A= (p.Ser2334=)
c.6993A= (p.Ser2331=)
c.6954A= (p.Ser2318=)
c.6900A= (p.Ser2300=)
c.6804A= (p.Ser2268=)
c.6774A= (p.Ser2258=)
c.6699A= (p.Ser2233=)
c.6597A= (p.Ser2199=)
c.6228A= (p.Ser2076=)
5g.112842671A>CCA446210852APCc.7131A>C (p.Ser2377=)
c.*7083A>C (n.*7083A>C)
c.7023A>C (p.Ser2341=)
c.7077A>C (p.Ser2359=)
c.*6399A>C (n.*6399A>C)
c.230+13699A>C
c.7107A>C (p.Ser2369=)
c.7002A>C (p.Ser2334=)
c.6993A>C (p.Ser2331=)
c.6954A>C (p.Ser2318=)
c.6900A>C (p.Ser2300=)
c.6804A>C (p.Ser2268=)
c.6774A>C (p.Ser2258=)
c.6699A>C (p.Ser2233=)
c.6597A>C (p.Ser2199=)
c.6228A>C (p.Ser2076=)
5g.112842671A>GCA012817APCc.7131A>G (p.Ser2377=)
c.*7083A>G (n.*7083A>G)
c.7023A>G (p.Ser2341=)
c.7077A>G (p.Ser2359=)
c.*6399A>G (n.*6399A>G)
c.230+13699A>G
c.7107A>G (p.Ser2369=)
c.7002A>G (p.Ser2334=)
c.6993A>G (p.Ser2331=)
c.6954A>G (p.Ser2318=)
c.6900A>G (p.Ser2300=)
c.6804A>G (p.Ser2268=)
c.6774A>G (p.Ser2258=)
c.6699A>G (p.Ser2233=)
c.6597A>G (p.Ser2199=)
c.6228A>G (p.Ser2076=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842671A>TCA446210849APCc.7131A>T (p.Ser2377=)
c.*7083A>T (n.*7083A>T)
c.7023A>T (p.Ser2341=)
c.7077A>T (p.Ser2359=)
c.*6399A>T (n.*6399A>T)
c.230+13699A>T
c.7107A>T (p.Ser2369=)
c.7002A>T (p.Ser2334=)
c.6993A>T (p.Ser2331=)
c.6954A>T (p.Ser2318=)
c.6900A>T (p.Ser2300=)
c.6804A>T (p.Ser2268=)
c.6774A>T (p.Ser2258=)
c.6699A>T (p.Ser2233=)
c.6597A>T (p.Ser2199=)
c.6228A>T (p.Ser2076=)
dbSNP
5g.112842671_112842672delinsAGCA1573466600APCc.7131_7132delinsAG (p.Ser2377=)
c.*7083_*7084delinsAG (n.*7083_*7084delinsAG)
c.7023_7024delinsAG (p.Ser2341=)
c.7077_7078delinsAG (p.Ser2359=)
c.*6399_*6400delinsAG (n.*6399_*6400delinsAG)
c.230+13699_230+13700delinsAG
c.7107_7108delinsAG (p.Ser2369=)
c.7002_7003delinsAG (p.Ser2334=)
c.6993_6994delinsAG (p.Ser2331=)
c.6954_6955delinsAG (p.Ser2318=)
c.6900_6901delinsAG (p.Ser2300=)
c.6804_6805delinsAG (p.Ser2268=)
c.6774_6775delinsAG (p.Ser2258=)
c.6699_6700delinsAG (p.Ser2233=)
c.6597_6598delinsAG (p.Ser2199=)
c.6228_6229delinsAG (p.Ser2076=)
5g.112842672G>ACA16036750APCc.7132G>A (p.Gly2378Ser)
c.*7084G>A (n.*7084G>A)
c.7024G>A (p.Gly2342Ser)
c.7078G>A (p.Gly2360Ser)
c.*6400G>A (n.*6400G>A)
c.230+13700G>A
c.7108G>A (p.Gly2370Ser)
c.7003G>A (p.Gly2335Ser)
c.6994G>A (p.Gly2332Ser)
c.6955G>A (p.Gly2319Ser)
c.6901G>A (p.Gly2301Ser)
c.6805G>A (p.Gly2269Ser)
c.6775G>A (p.Gly2259Ser)
c.6700G>A (p.Gly2234Ser)
c.6598G>A (p.Gly2200Ser)
c.6229G>A (p.Gly2077Ser)
dbSNP
5g.112842672G>CCA16036751APCc.7132G>C (p.Gly2378Arg)
c.*7084G>C (n.*7084G>C)
c.7024G>C (p.Gly2342Arg)
c.7078G>C (p.Gly2360Arg)
c.*6400G>C (n.*6400G>C)
c.230+13700G>C
c.7108G>C (p.Gly2370Arg)
c.7003G>C (p.Gly2335Arg)
c.6994G>C (p.Gly2332Arg)
c.6955G>C (p.Gly2319Arg)
c.6901G>C (p.Gly2301Arg)
c.6805G>C (p.Gly2269Arg)
c.6775G>C (p.Gly2259Arg)
c.6700G>C (p.Gly2234Arg)
c.6598G>C (p.Gly2200Arg)
c.6229G>C (p.Gly2077Arg)
5g.112842672G>TCA16036752APCc.7132G>T (p.Gly2378Cys)
c.*7084G>T (n.*7084G>T)
c.7024G>T (p.Gly2342Cys)
c.7078G>T (p.Gly2360Cys)
c.*6400G>T (n.*6400G>T)
c.230+13700G>T
c.7108G>T (p.Gly2370Cys)
c.7003G>T (p.Gly2335Cys)
c.6994G>T (p.Gly2332Cys)
c.6955G>T (p.Gly2319Cys)
c.6901G>T (p.Gly2301Cys)
c.6805G>T (p.Gly2269Cys)
c.6775G>T (p.Gly2259Cys)
c.6700G>T (p.Gly2234Cys)
c.6598G>T (p.Gly2200Cys)
c.6229G>T (p.Gly2077Cys)
dbSNP
5g.112842673delCA1573466603APCc.7133del (p.Gly2378ValfsTer14)
c.*7085del (n.*7085del)
c.7025del (p.Gly2342ValfsTer14)
c.7079del (p.Gly2360ValfsTer14)
c.*6401del (n.*6401del)
c.230+13701del
c.7109del (p.Gly2370ValfsTer14)
c.7004del (p.Gly2335ValfsTer14)
c.6995del (p.Gly2332ValfsTer14)
c.6956del (p.Gly2319ValfsTer14)
c.6902del (p.Gly2301ValfsTer14)
c.6806del (p.Gly2269ValfsTer14)
c.6776del (p.Gly2259ValfsTer14)
c.6701del (p.Gly2234ValfsTer14)
c.6599del (p.Gly2200ValfsTer14)
c.6230del (p.Gly2077ValfsTer14)
dbSNP
5g.112842673G>ACA16036753APCc.7133G>A (p.Gly2378Asp)
c.*7085G>A (n.*7085G>A)
c.7025G>A (p.Gly2342Asp)
c.7079G>A (p.Gly2360Asp)
c.*6401G>A (n.*6401G>A)
c.230+13701G>A
c.7109G>A (p.Gly2370Asp)
c.7004G>A (p.Gly2335Asp)
c.6995G>A (p.Gly2332Asp)
c.6956G>A (p.Gly2319Asp)
c.6902G>A (p.Gly2301Asp)
c.6806G>A (p.Gly2269Asp)
c.6776G>A (p.Gly2259Asp)
c.6701G>A (p.Gly2234Asp)
c.6599G>A (p.Gly2200Asp)
c.6230G>A (p.Gly2077Asp)
ClinVar dbSNP gnomAD v4
5g.112842673G>CCA16036754APCc.7133G>C (p.Gly2378Ala)
c.*7085G>C (n.*7085G>C)
c.7025G>C (p.Gly2342Ala)
c.7079G>C (p.Gly2360Ala)
c.*6401G>C (n.*6401G>C)
c.230+13701G>C
c.7109G>C (p.Gly2370Ala)
c.7004G>C (p.Gly2335Ala)
c.6995G>C (p.Gly2332Ala)
c.6956G>C (p.Gly2319Ala)
c.6902G>C (p.Gly2301Ala)
c.6806G>C (p.Gly2269Ala)
c.6776G>C (p.Gly2259Ala)
c.6701G>C (p.Gly2234Ala)
c.6599G>C (p.Gly2200Ala)
c.6230G>C (p.Gly2077Ala)
ClinVar dbSNP
5g.112842673G=CA1573466622APCc.7133G= (p.Gly2378=)
c.*7085G= (n.*7085G=)
c.7025G= (p.Gly2342=)
c.7079G= (p.Gly2360=)
c.*6401G= (n.*6401G=)
c.230+13701G=
c.7109G= (p.Gly2370=)
c.7004G= (p.Gly2335=)
c.6995G= (p.Gly2332=)
c.6956G= (p.Gly2319=)
c.6902G= (p.Gly2301=)
c.6806G= (p.Gly2269=)
c.6776G= (p.Gly2259=)
c.6701G= (p.Gly2234=)
c.6599G= (p.Gly2200=)
c.6230G= (p.Gly2077=)
5g.112842673G>TCA046806APCc.7133G>T (p.Gly2378Val)
c.*7085G>T (n.*7085G>T)
c.7025G>T (p.Gly2342Val)
c.7079G>T (p.Gly2360Val)
c.*6401G>T (n.*6401G>T)
c.230+13701G>T
c.7109G>T (p.Gly2370Val)
c.7004G>T (p.Gly2335Val)
c.6995G>T (p.Gly2332Val)
c.6956G>T (p.Gly2319Val)
c.6902G>T (p.Gly2301Val)
c.6806G>T (p.Gly2269Val)
c.6776G>T (p.Gly2259Val)
c.6701G>T (p.Gly2234Val)
c.6599G>T (p.Gly2200Val)
c.6230G>T (p.Gly2077Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842674T>ACA446210011APCc.7134T>A (p.Gly2378=)
c.*7086T>A (n.*7086T>A)
c.7026T>A (p.Gly2342=)
c.7080T>A (p.Gly2360=)
c.*6402T>A (n.*6402T>A)
c.230+13702T>A
c.7110T>A (p.Gly2370=)
c.7005T>A (p.Gly2335=)
c.6996T>A (p.Gly2332=)
c.6957T>A (p.Gly2319=)
c.6903T>A (p.Gly2301=)
c.6807T>A (p.Gly2269=)
c.6777T>A (p.Gly2259=)
c.6702T>A (p.Gly2234=)
c.6600T>A (p.Gly2200=)
c.6231T>A (p.Gly2077=)
dbSNP
5g.112842674T>CCA446210013APCc.7134T>C (p.Gly2378=)
c.*7086T>C (n.*7086T>C)
c.7026T>C (p.Gly2342=)
c.7080T>C (p.Gly2360=)
c.*6402T>C (n.*6402T>C)
c.230+13702T>C
c.7110T>C (p.Gly2370=)
c.7005T>C (p.Gly2335=)
c.6996T>C (p.Gly2332=)
c.6957T>C (p.Gly2319=)
c.6903T>C (p.Gly2301=)
c.6807T>C (p.Gly2269=)
c.6777T>C (p.Gly2259=)
c.6702T>C (p.Gly2234=)
c.6600T>C (p.Gly2200=)
c.6231T>C (p.Gly2077=)
dbSNP
5g.112842674T>GCA446210012APCc.7134T>G (p.Gly2378=)
c.*7086T>G (n.*7086T>G)
c.7026T>G (p.Gly2342=)
c.7080T>G (p.Gly2360=)
c.*6402T>G (n.*6402T>G)
c.230+13702T>G
c.7110T>G (p.Gly2370=)
c.7005T>G (p.Gly2335=)
c.6996T>G (p.Gly2332=)
c.6957T>G (p.Gly2319=)
c.6903T>G (p.Gly2301=)
c.6807T>G (p.Gly2269=)
c.6777T>G (p.Gly2259=)
c.6702T>G (p.Gly2234=)
c.6600T>G (p.Gly2200=)
c.6231T>G (p.Gly2077=)
dbSNP
5g.112842675T>ACA16036755APCc.7135T>A (p.Ser2379Thr)
c.*7087T>A (n.*7087T>A)
c.7027T>A (p.Ser2343Thr)
c.7081T>A (p.Ser2361Thr)
c.*6403T>A (n.*6403T>A)
c.230+13703T>A
c.7111T>A (p.Ser2371Thr)
c.7006T>A (p.Ser2336Thr)
c.6997T>A (p.Ser2333Thr)
c.6958T>A (p.Ser2320Thr)
c.6904T>A (p.Ser2302Thr)
c.6808T>A (p.Ser2270Thr)
c.6778T>A (p.Ser2260Thr)
c.6703T>A (p.Ser2235Thr)
c.6601T>A (p.Ser2201Thr)
c.6232T>A (p.Ser2078Thr)
dbSNP
5g.112842675T>CCA16036756APCc.7135T>C (p.Ser2379Pro)
c.*7087T>C (n.*7087T>C)
c.7027T>C (p.Ser2343Pro)
c.7081T>C (p.Ser2361Pro)
c.*6403T>C (n.*6403T>C)
c.230+13703T>C
c.7111T>C (p.Ser2371Pro)
c.7006T>C (p.Ser2336Pro)
c.6997T>C (p.Ser2333Pro)
c.6958T>C (p.Ser2320Pro)
c.6904T>C (p.Ser2302Pro)
c.6808T>C (p.Ser2270Pro)
c.6778T>C (p.Ser2260Pro)
c.6703T>C (p.Ser2235Pro)
c.6601T>C (p.Ser2201Pro)
c.6232T>C (p.Ser2078Pro)
ClinVar dbSNP
5g.112842675T>GCA16036757APCc.7135T>G (p.Ser2379Ala)
c.*7087T>G (n.*7087T>G)
c.7027T>G (p.Ser2343Ala)
c.7081T>G (p.Ser2361Ala)
c.*6403T>G (n.*6403T>G)
c.230+13703T>G
c.7111T>G (p.Ser2371Ala)
c.7006T>G (p.Ser2336Ala)
c.6997T>G (p.Ser2333Ala)
c.6958T>G (p.Ser2320Ala)
c.6904T>G (p.Ser2302Ala)
c.6808T>G (p.Ser2270Ala)
c.6778T>G (p.Ser2260Ala)
c.6703T>G (p.Ser2235Ala)
c.6601T>G (p.Ser2201Ala)
c.6232T>G (p.Ser2078Ala)
dbSNP
5g.112842676C>ACA16036758APCc.7136C>A (p.Ser2379Tyr)
c.*7088C>A (n.*7088C>A)
c.7028C>A (p.Ser2343Tyr)
c.7082C>A (p.Ser2361Tyr)
c.*6404C>A (n.*6404C>A)
c.230+13704C>A
c.7112C>A (p.Ser2371Tyr)
c.7007C>A (p.Ser2336Tyr)
c.6998C>A (p.Ser2333Tyr)
c.6959C>A (p.Ser2320Tyr)
c.6905C>A (p.Ser2302Tyr)
c.6809C>A (p.Ser2270Tyr)
c.6779C>A (p.Ser2260Tyr)
c.6704C>A (p.Ser2235Tyr)
c.6602C>A (p.Ser2201Tyr)
c.6233C>A (p.Ser2078Tyr)
dbSNP
5g.112842676C>GCA16036759APCc.7136C>G (p.Ser2379Cys)
c.*7088C>G (n.*7088C>G)
c.7028C>G (p.Ser2343Cys)
c.7082C>G (p.Ser2361Cys)
c.*6404C>G (n.*6404C>G)
c.230+13704C>G
c.7112C>G (p.Ser2371Cys)
c.7007C>G (p.Ser2336Cys)
c.6998C>G (p.Ser2333Cys)
c.6959C>G (p.Ser2320Cys)
c.6905C>G (p.Ser2302Cys)
c.6809C>G (p.Ser2270Cys)
c.6779C>G (p.Ser2260Cys)
c.6704C>G (p.Ser2235Cys)
c.6602C>G (p.Ser2201Cys)
c.6233C>G (p.Ser2078Cys)
dbSNP
5g.112842676C>TCA16036760APCc.7136C>T (p.Ser2379Phe)
c.*7088C>T (n.*7088C>T)
c.7028C>T (p.Ser2343Phe)
c.7082C>T (p.Ser2361Phe)
c.*6404C>T (n.*6404C>T)
c.230+13704C>T
c.7112C>T (p.Ser2371Phe)
c.7007C>T (p.Ser2336Phe)
c.6998C>T (p.Ser2333Phe)
c.6959C>T (p.Ser2320Phe)
c.6905C>T (p.Ser2302Phe)
c.6809C>T (p.Ser2270Phe)
c.6779C>T (p.Ser2260Phe)
c.6704C>T (p.Ser2235Phe)
c.6602C>T (p.Ser2201Phe)
c.6233C>T (p.Ser2078Phe)
dbSNP
5g.112842677T>ACA446210018APCc.7137T>A (p.Ser2379=)
c.*7089T>A (n.*7089T>A)
c.7029T>A (p.Ser2343=)
c.7083T>A (p.Ser2361=)
c.*6405T>A (n.*6405T>A)
c.230+13705T>A
c.7113T>A (p.Ser2371=)
c.7008T>A (p.Ser2336=)
c.6999T>A (p.Ser2333=)
c.6960T>A (p.Ser2320=)
c.6906T>A (p.Ser2302=)
c.6810T>A (p.Ser2270=)
c.6780T>A (p.Ser2260=)
c.6705T>A (p.Ser2235=)
c.6603T>A (p.Ser2201=)
c.6234T>A (p.Ser2078=)
5g.112842677T>CCA446210020APCc.7137T>C (p.Ser2379=)
c.*7089T>C (n.*7089T>C)
c.7029T>C (p.Ser2343=)
c.7083T>C (p.Ser2361=)
c.*6405T>C (n.*6405T>C)
c.230+13705T>C
c.7113T>C (p.Ser2371=)
c.7008T>C (p.Ser2336=)
c.6999T>C (p.Ser2333=)
c.6960T>C (p.Ser2320=)
c.6906T>C (p.Ser2302=)
c.6810T>C (p.Ser2270=)
c.6780T>C (p.Ser2260=)
c.6705T>C (p.Ser2235=)
c.6603T>C (p.Ser2201=)
c.6234T>C (p.Ser2078=)
5g.112842677T>GCA446210021APCc.7137T>G (p.Ser2379=)
c.*7089T>G (n.*7089T>G)
c.7029T>G (p.Ser2343=)
c.7083T>G (p.Ser2361=)
c.*6405T>G (n.*6405T>G)
c.230+13705T>G
c.7113T>G (p.Ser2371=)
c.7008T>G (p.Ser2336=)
c.6999T>G (p.Ser2333=)
c.6960T>G (p.Ser2320=)
c.6906T>G (p.Ser2302=)
c.6810T>G (p.Ser2270=)
c.6780T>G (p.Ser2260=)
c.6705T>G (p.Ser2235=)
c.6603T>G (p.Ser2201=)
c.6234T>G (p.Ser2078=)
5g.112842678G>ACA16036761APCc.7138G>A (p.Gly2380Arg)
c.*7090G>A (n.*7090G>A)
c.7030G>A (p.Gly2344Arg)
c.7084G>A (p.Gly2362Arg)
c.*6406G>A (n.*6406G>A)
c.230+13706G>A
c.7114G>A (p.Gly2372Arg)
c.7009G>A (p.Gly2337Arg)
c.7000G>A (p.Gly2334Arg)
c.6961G>A (p.Gly2321Arg)
c.6907G>A (p.Gly2303Arg)
c.6811G>A (p.Gly2271Arg)
c.6781G>A (p.Gly2261Arg)
c.6706G>A (p.Gly2236Arg)
c.6604G>A (p.Gly2202Arg)
c.6235G>A (p.Gly2079Arg)
dbSNP
5g.112842678G>CCA16036762APCc.7138G>C (p.Gly2380Arg)
c.*7090G>C (n.*7090G>C)
c.7030G>C (p.Gly2344Arg)
c.7084G>C (p.Gly2362Arg)
c.*6406G>C (n.*6406G>C)
c.230+13706G>C
c.7114G>C (p.Gly2372Arg)
c.7009G>C (p.Gly2337Arg)
c.7000G>C (p.Gly2334Arg)
c.6961G>C (p.Gly2321Arg)
c.6907G>C (p.Gly2303Arg)
c.6811G>C (p.Gly2271Arg)
c.6781G>C (p.Gly2261Arg)
c.6706G>C (p.Gly2236Arg)
c.6604G>C (p.Gly2202Arg)
c.6235G>C (p.Gly2079Arg)
dbSNP
5g.112842678G>TCA16036763APCc.7138G>T (p.Gly2380Ter)
c.*7090G>T (n.*7090G>T)
c.7030G>T (p.Gly2344Ter)
c.7084G>T (p.Gly2362Ter)
c.*6406G>T (n.*6406G>T)
c.230+13706G>T
c.7114G>T (p.Gly2372Ter)
c.7009G>T (p.Gly2337Ter)
c.7000G>T (p.Gly2334Ter)
c.6961G>T (p.Gly2321Ter)
c.6907G>T (p.Gly2303Ter)
c.6811G>T (p.Gly2271Ter)
c.6781G>T (p.Gly2261Ter)
c.6706G>T (p.Gly2236Ter)
c.6604G>T (p.Gly2202Ter)
c.6235G>T (p.Gly2079Ter)
dbSNP
5g.112842679delCA2710010983APCc.7139del (p.Gly2380GlufsTer12)
c.*7091del (n.*7091del)
c.7031del (p.Gly2344GlufsTer12)
c.7085del (p.Gly2362GlufsTer12)
c.*6407del (n.*6407del)
c.230+13707del
c.7115del (p.Gly2372GlufsTer12)
c.7010del (p.Gly2337GlufsTer12)
c.7001del (p.Gly2334GlufsTer12)
c.6962del (p.Gly2321GlufsTer12)
c.6908del (p.Gly2303GlufsTer12)
c.6812del (p.Gly2271GlufsTer12)
c.6782del (p.Gly2261GlufsTer12)
c.6707del (p.Gly2236GlufsTer12)
c.6605del (p.Gly2202GlufsTer12)
c.6236del (p.Gly2079GlufsTer12)
dbSNP
5g.112842679G>ACA16036764APCc.7139G>A (p.Gly2380Glu)
c.*7091G>A (n.*7091G>A)
c.7031G>A (p.Gly2344Glu)
c.7085G>A (p.Gly2362Glu)
c.*6407G>A (n.*6407G>A)
c.230+13707G>A
c.7115G>A (p.Gly2372Glu)
c.7010G>A (p.Gly2337Glu)
c.7001G>A (p.Gly2334Glu)
c.6962G>A (p.Gly2321Glu)
c.6908G>A (p.Gly2303Glu)
c.6812G>A (p.Gly2271Glu)
c.6782G>A (p.Gly2261Glu)
c.6707G>A (p.Gly2236Glu)
c.6605G>A (p.Gly2202Glu)
c.6236G>A (p.Gly2079Glu)
5g.112842679G>CCA16036765APCc.7139G>C (p.Gly2380Ala)
c.*7091G>C (n.*7091G>C)
c.7031G>C (p.Gly2344Ala)
c.7085G>C (p.Gly2362Ala)
c.*6407G>C (n.*6407G>C)
c.230+13707G>C
c.7115G>C (p.Gly2372Ala)
c.7010G>C (p.Gly2337Ala)
c.7001G>C (p.Gly2334Ala)
c.6962G>C (p.Gly2321Ala)
c.6908G>C (p.Gly2303Ala)
c.6812G>C (p.Gly2271Ala)
c.6782G>C (p.Gly2261Ala)
c.6707G>C (p.Gly2236Ala)
c.6605G>C (p.Gly2202Ala)
c.6236G>C (p.Gly2079Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842679G=CA1573466640APCc.7139G= (p.Gly2380=)
c.*7091G= (n.*7091G=)
c.7031G= (p.Gly2344=)
c.7085G= (p.Gly2362=)
c.*6407G= (n.*6407G=)
c.230+13707G=
c.7115G= (p.Gly2372=)
c.7010G= (p.Gly2337=)
c.7001G= (p.Gly2334=)
c.6962G= (p.Gly2321=)
c.6908G= (p.Gly2303=)
c.6812G= (p.Gly2271=)
c.6782G= (p.Gly2261=)
c.6707G= (p.Gly2236=)
c.6605G= (p.Gly2202=)
c.6236G= (p.Gly2079=)
5g.112842679G>TCA046822APCc.7139G>T (p.Gly2380Val)
c.*7091G>T (n.*7091G>T)
c.7031G>T (p.Gly2344Val)
c.7085G>T (p.Gly2362Val)
c.*6407G>T (n.*6407G>T)
c.230+13707G>T
c.7115G>T (p.Gly2372Val)
c.7010G>T (p.Gly2337Val)
c.7001G>T (p.Gly2334Val)
c.6962G>T (p.Gly2321Val)
c.6908G>T (p.Gly2303Val)
c.6812G>T (p.Gly2271Val)
c.6782G>T (p.Gly2261Val)
c.6707G>T (p.Gly2236Val)
c.6605G>T (p.Gly2202Val)
c.6236G>T (p.Gly2079Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842680A=CA1573466657APCc.7140A= (p.Gly2380=)
c.*7092A= (n.*7092A=)
c.7032A= (p.Gly2344=)
c.7086A= (p.Gly2362=)
c.*6408A= (n.*6408A=)
c.230+13708A=
c.7116A= (p.Gly2372=)
c.7011A= (p.Gly2337=)
c.7002A= (p.Gly2334=)
c.6963A= (p.Gly2321=)
c.6909A= (p.Gly2303=)
c.6813A= (p.Gly2271=)
c.6783A= (p.Gly2261=)
c.6708A= (p.Gly2236=)
c.6606A= (p.Gly2202=)
c.6237A= (p.Gly2079=)
5g.112842680A>CCA446210023APCc.7140A>C (p.Gly2380=)
c.*7092A>C (n.*7092A>C)
c.7032A>C (p.Gly2344=)
c.7086A>C (p.Gly2362=)
c.*6408A>C (n.*6408A>C)
c.230+13708A>C
c.7116A>C (p.Gly2372=)
c.7011A>C (p.Gly2337=)
c.7002A>C (p.Gly2334=)
c.6963A>C (p.Gly2321=)
c.6909A>C (p.Gly2303=)
c.6813A>C (p.Gly2271=)
c.6783A>C (p.Gly2261=)
c.6708A>C (p.Gly2236=)
c.6606A>C (p.Gly2202=)
c.6237A>C (p.Gly2079=)
5g.112842680A>GCA046834APCc.7140A>G (p.Gly2380=)
c.*7092A>G (n.*7092A>G)
c.7032A>G (p.Gly2344=)
c.7086A>G (p.Gly2362=)
c.*6408A>G (n.*6408A>G)
c.230+13708A>G
c.7116A>G (p.Gly2372=)
c.7011A>G (p.Gly2337=)
c.7002A>G (p.Gly2334=)
c.6963A>G (p.Gly2321=)
c.6909A>G (p.Gly2303=)
c.6813A>G (p.Gly2271=)
c.6783A>G (p.Gly2261=)
c.6708A>G (p.Gly2236=)
c.6606A>G (p.Gly2202=)
c.6237A>G (p.Gly2079=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842680A>TCA446210024APCc.7140A>T (p.Gly2380=)
c.*7092A>T (n.*7092A>T)
c.7032A>T (p.Gly2344=)
c.7086A>T (p.Gly2362=)
c.*6408A>T (n.*6408A>T)
c.230+13708A>T
c.7116A>T (p.Gly2372=)
c.7011A>T (p.Gly2337=)
c.7002A>T (p.Gly2334=)
c.6963A>T (p.Gly2321=)
c.6909A>T (p.Gly2303=)
c.6813A>T (p.Gly2271=)
c.6783A>T (p.Gly2261=)
c.6708A>T (p.Gly2236=)
c.6606A>T (p.Gly2202=)
c.6237A>T (p.Gly2079=)
ClinVar dbSNP
5g.112842684dupCA2710010984APCc.7144dup (p.Met2382AsnfsTer8)
c.*7096dup (n.*7096dup)
c.7036dup (p.Met2346AsnfsTer8)
c.7090dup (p.Met2364AsnfsTer8)
c.*6412dup (n.*6412dup)
c.230+13712dup
c.7120dup (p.Met2374AsnfsTer8)
c.7015dup (p.Met2339AsnfsTer8)
c.7006dup (p.Met2336AsnfsTer8)
c.6967dup (p.Met2323AsnfsTer8)
c.6913dup (p.Met2305AsnfsTer8)
c.6817dup (p.Met2273AsnfsTer8)
c.6787dup (p.Met2263AsnfsTer8)
c.6712dup (p.Met2238AsnfsTer8)
c.6610dup (p.Met2204AsnfsTer8)
c.6241dup (p.Met2081AsnfsTer8)
dbSNP
5g.112842684delCA2578379947APCc.7144del (p.Met2382CysfsTer10)
c.*7096del (n.*7096del)
c.7036del (p.Met2346CysfsTer10)
c.7090del (p.Met2364CysfsTer10)
c.*6412del (n.*6412del)
c.230+13712del
c.7120del (p.Met2374CysfsTer10)
c.7015del (p.Met2339CysfsTer10)
c.7006del (p.Met2336CysfsTer10)
c.6967del (p.Met2323CysfsTer10)
c.6913del (p.Met2305CysfsTer10)
c.6817del (p.Met2273CysfsTer10)
c.6787del (p.Met2263CysfsTer10)
c.6712del (p.Met2238CysfsTer10)
c.6610del (p.Met2204CysfsTer10)
c.6241del (p.Met2081CysfsTer10)
5g.112842681A>CCA16036766APCc.7141A>C (p.Lys2381Gln)
c.*7093A>C (n.*7093A>C)
c.7033A>C (p.Lys2345Gln)
c.7087A>C (p.Lys2363Gln)
c.*6409A>C (n.*6409A>C)
c.230+13709A>C
c.7117A>C (p.Lys2373Gln)
c.7012A>C (p.Lys2338Gln)
c.7003A>C (p.Lys2335Gln)
c.6964A>C (p.Lys2322Gln)
c.6910A>C (p.Lys2304Gln)
c.6814A>C (p.Lys2272Gln)
c.6784A>C (p.Lys2262Gln)
c.6709A>C (p.Lys2237Gln)
c.6607A>C (p.Lys2203Gln)
c.6238A>C (p.Lys2080Gln)
5g.112842681A>GCA16036767APCc.7141A>G (p.Lys2381Glu)
c.*7093A>G (n.*7093A>G)
c.7033A>G (p.Lys2345Glu)
c.7087A>G (p.Lys2363Glu)
c.*6409A>G (n.*6409A>G)
c.230+13709A>G
c.7117A>G (p.Lys2373Glu)
c.7012A>G (p.Lys2338Glu)
c.7003A>G (p.Lys2335Glu)
c.6964A>G (p.Lys2322Glu)
c.6910A>G (p.Lys2304Glu)
c.6814A>G (p.Lys2272Glu)
c.6784A>G (p.Lys2262Glu)
c.6709A>G (p.Lys2237Glu)
c.6607A>G (p.Lys2203Glu)
c.6238A>G (p.Lys2080Glu)
dbSNP
5g.112842681A>TCA16036768APCc.7141A>T (p.Lys2381Ter)
c.*7093A>T (n.*7093A>T)
c.7033A>T (p.Lys2345Ter)
c.7087A>T (p.Lys2363Ter)
c.*6409A>T (n.*6409A>T)
c.230+13709A>T
c.7117A>T (p.Lys2373Ter)
c.7012A>T (p.Lys2338Ter)
c.7003A>T (p.Lys2335Ter)
c.6964A>T (p.Lys2322Ter)
c.6910A>T (p.Lys2304Ter)
c.6814A>T (p.Lys2272Ter)
c.6784A>T (p.Lys2262Ter)
c.6709A>T (p.Lys2237Ter)
c.6607A>T (p.Lys2203Ter)
c.6238A>T (p.Lys2080Ter)
dbSNP
5g.112842682A=CA1573466676APCc.7142A= (p.Lys2381=)
c.*7094A= (n.*7094A=)
c.7034A= (p.Lys2345=)
c.7088A= (p.Lys2363=)
c.*6410A= (n.*6410A=)
c.230+13710A=
c.7118A= (p.Lys2373=)
c.7013A= (p.Lys2338=)
c.7004A= (p.Lys2335=)
c.6965A= (p.Lys2322=)
c.6911A= (p.Lys2304=)
c.6815A= (p.Lys2272=)
c.6785A= (p.Lys2262=)
c.6710A= (p.Lys2237=)
c.6608A= (p.Lys2203=)
c.6239A= (p.Lys2080=)
5g.112842682A>CCA16036769APCc.7142A>C (p.Lys2381Thr)
c.*7094A>C (n.*7094A>C)
c.7034A>C (p.Lys2345Thr)
c.7088A>C (p.Lys2363Thr)
c.*6410A>C (n.*6410A>C)
c.230+13710A>C
c.7118A>C (p.Lys2373Thr)
c.7013A>C (p.Lys2338Thr)
c.7004A>C (p.Lys2335Thr)
c.6965A>C (p.Lys2322Thr)
c.6911A>C (p.Lys2304Thr)
c.6815A>C (p.Lys2272Thr)
c.6785A>C (p.Lys2262Thr)
c.6710A>C (p.Lys2237Thr)
c.6608A>C (p.Lys2203Thr)
c.6239A>C (p.Lys2080Thr)
5g.112842682A>GCA012825APCc.7142A>G (p.Lys2381Arg)
c.*7094A>G (n.*7094A>G)
c.7034A>G (p.Lys2345Arg)
c.7088A>G (p.Lys2363Arg)
c.*6410A>G (n.*6410A>G)
c.230+13710A>G
c.7118A>G (p.Lys2373Arg)
c.7013A>G (p.Lys2338Arg)
c.7004A>G (p.Lys2335Arg)
c.6965A>G (p.Lys2322Arg)
c.6911A>G (p.Lys2304Arg)
c.6815A>G (p.Lys2272Arg)
c.6785A>G (p.Lys2262Arg)
c.6710A>G (p.Lys2237Arg)
c.6608A>G (p.Lys2203Arg)
c.6239A>G (p.Lys2080Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842682A>TCA16036770APCc.7142A>T (p.Lys2381Ile)
c.*7094A>T (n.*7094A>T)
c.7034A>T (p.Lys2345Ile)
c.7088A>T (p.Lys2363Ile)
c.*6410A>T (n.*6410A>T)
c.230+13710A>T
c.7118A>T (p.Lys2373Ile)
c.7013A>T (p.Lys2338Ile)
c.7004A>T (p.Lys2335Ile)
c.6965A>T (p.Lys2322Ile)
c.6911A>T (p.Lys2304Ile)
c.6815A>T (p.Lys2272Ile)
c.6785A>T (p.Lys2262Ile)
c.6710A>T (p.Lys2237Ile)
c.6608A>T (p.Lys2203Ile)
c.6239A>T (p.Lys2080Ile)
dbSNP
5g.112842683A=CA1573466686APCc.7143A= (p.Lys2381=)
c.*7095A= (n.*7095A=)
c.7035A= (p.Lys2345=)
c.7089A= (p.Lys2363=)
c.*6411A= (n.*6411A=)
c.230+13711A=
c.7119A= (p.Lys2373=)
c.7014A= (p.Lys2338=)
c.7005A= (p.Lys2335=)
c.6966A= (p.Lys2322=)
c.6912A= (p.Lys2304=)
c.6816A= (p.Lys2272=)
c.6786A= (p.Lys2262=)
c.6711A= (p.Lys2237=)
c.6609A= (p.Lys2203=)
c.6240A= (p.Lys2080=)
5g.112842683A>CCA16036771APCc.7143A>C (p.Lys2381Asn)
c.*7095A>C (n.*7095A>C)
c.7035A>C (p.Lys2345Asn)
c.7089A>C (p.Lys2363Asn)
c.*6411A>C (n.*6411A>C)
c.230+13711A>C
c.7119A>C (p.Lys2373Asn)
c.7014A>C (p.Lys2338Asn)
c.7005A>C (p.Lys2335Asn)
c.6966A>C (p.Lys2322Asn)
c.6912A>C (p.Lys2304Asn)
c.6816A>C (p.Lys2272Asn)
c.6786A>C (p.Lys2262Asn)
c.6711A>C (p.Lys2237Asn)
c.6609A>C (p.Lys2203Asn)
c.6240A>C (p.Lys2080Asn)
dbSNP
5g.112842683A>GCA348914APCc.7143A>G (p.Lys2381=)
c.*7095A>G (n.*7095A>G)
c.7035A>G (p.Lys2345=)
c.7089A>G (p.Lys2363=)
c.*6411A>G (n.*6411A>G)
c.230+13711A>G
c.7119A>G (p.Lys2373=)
c.7014A>G (p.Lys2338=)
c.7005A>G (p.Lys2335=)
c.6966A>G (p.Lys2322=)
c.6912A>G (p.Lys2304=)
c.6816A>G (p.Lys2272=)
c.6786A>G (p.Lys2262=)
c.6711A>G (p.Lys2237=)
c.6609A>G (p.Lys2203=)
c.6240A>G (p.Lys2080=)
ClinVar dbSNP gnomAD v4
5g.112842683A>TCA16036772APCc.7143A>T (p.Lys2381Asn)
c.*7095A>T (n.*7095A>T)
c.7035A>T (p.Lys2345Asn)
c.7089A>T (p.Lys2363Asn)
c.*6411A>T (n.*6411A>T)
c.230+13711A>T
c.7119A>T (p.Lys2373Asn)
c.7014A>T (p.Lys2338Asn)
c.7005A>T (p.Lys2335Asn)
c.6966A>T (p.Lys2322Asn)
c.6912A>T (p.Lys2304Asn)
c.6816A>T (p.Lys2272Asn)
c.6786A>T (p.Lys2262Asn)
c.6711A>T (p.Lys2237Asn)
c.6609A>T (p.Lys2203Asn)
c.6240A>T (p.Lys2080Asn)
dbSNP
5g.112842684A=CA1573466692APCc.7144A= (p.Met2382=)
c.*7096A= (n.*7096A=)
c.7036A= (p.Met2346=)
c.7090A= (p.Met2364=)
c.*6412A= (n.*6412A=)
c.230+13712A=
c.7120A= (p.Met2374=)
c.7015A= (p.Met2339=)
c.7006A= (p.Met2336=)
c.6967A= (p.Met2323=)
c.6913A= (p.Met2305=)
c.6817A= (p.Met2273=)
c.6787A= (p.Met2263=)
c.6712A= (p.Met2238=)
c.6610A= (p.Met2204=)
c.6241A= (p.Met2081=)
5g.112842684A>CCA16036773APCc.7144A>C (p.Met2382Leu)
c.*7096A>C (n.*7096A>C)
c.7036A>C (p.Met2346Leu)
c.7090A>C (p.Met2364Leu)
c.*6412A>C (n.*6412A>C)
c.230+13712A>C
c.7120A>C (p.Met2374Leu)
c.7015A>C (p.Met2339Leu)
c.7006A>C (p.Met2336Leu)
c.6967A>C (p.Met2323Leu)
c.6913A>C (p.Met2305Leu)
c.6817A>C (p.Met2273Leu)
c.6787A>C (p.Met2263Leu)
c.6712A>C (p.Met2238Leu)
c.6610A>C (p.Met2204Leu)
c.6241A>C (p.Met2081Leu)
dbSNP
5g.112842684A>GCA046864APCc.7144A>G (p.Met2382Val)
c.*7096A>G (n.*7096A>G)
c.7036A>G (p.Met2346Val)
c.7090A>G (p.Met2364Val)
c.*6412A>G (n.*6412A>G)
c.230+13712A>G
c.7120A>G (p.Met2374Val)
c.7015A>G (p.Met2339Val)
c.7006A>G (p.Met2336Val)
c.6967A>G (p.Met2323Val)
c.6913A>G (p.Met2305Val)
c.6817A>G (p.Met2273Val)
c.6787A>G (p.Met2263Val)
c.6712A>G (p.Met2238Val)
c.6610A>G (p.Met2204Val)
c.6241A>G (p.Met2081Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842684A>TCA16036774APCc.7144A>T (p.Met2382Leu)
c.*7096A>T (n.*7096A>T)
c.7036A>T (p.Met2346Leu)
c.7090A>T (p.Met2364Leu)
c.*6412A>T (n.*6412A>T)
c.230+13712A>T
c.7120A>T (p.Met2374Leu)
c.7015A>T (p.Met2339Leu)
c.7006A>T (p.Met2336Leu)
c.6967A>T (p.Met2323Leu)
c.6913A>T (p.Met2305Leu)
c.6817A>T (p.Met2273Leu)
c.6787A>T (p.Met2263Leu)
c.6712A>T (p.Met2238Leu)
c.6610A>T (p.Met2204Leu)
c.6241A>T (p.Met2081Leu)
ClinVar dbSNP
5g.112842685T>ACA16036775APCc.7145T>A (p.Met2382Lys)
c.*7097T>A (n.*7097T>A)
c.7037T>A (p.Met2346Lys)
c.7091T>A (p.Met2364Lys)
c.*6413T>A (n.*6413T>A)
c.230+13713T>A
c.7121T>A (p.Met2374Lys)
c.7016T>A (p.Met2339Lys)
c.7007T>A (p.Met2336Lys)
c.6968T>A (p.Met2323Lys)
c.6914T>A (p.Met2305Lys)
c.6818T>A (p.Met2273Lys)
c.6788T>A (p.Met2263Lys)
c.6713T>A (p.Met2238Lys)
c.6611T>A (p.Met2204Lys)
c.6242T>A (p.Met2081Lys)
dbSNP
5g.112842685T>CCA16036776APCc.7145T>C (p.Met2382Thr)
c.*7097T>C (n.*7097T>C)
c.7037T>C (p.Met2346Thr)
c.7091T>C (p.Met2364Thr)
c.*6413T>C (n.*6413T>C)
c.230+13713T>C
c.7121T>C (p.Met2374Thr)
c.7016T>C (p.Met2339Thr)
c.7007T>C (p.Met2336Thr)
c.6968T>C (p.Met2323Thr)
c.6914T>C (p.Met2305Thr)
c.6818T>C (p.Met2273Thr)
c.6788T>C (p.Met2263Thr)
c.6713T>C (p.Met2238Thr)
c.6611T>C (p.Met2204Thr)
c.6242T>C (p.Met2081Thr)
5g.112842685T>GCA046877APCc.7145T>G (p.Met2382Arg)
c.*7097T>G (n.*7097T>G)
c.7037T>G (p.Met2346Arg)
c.7091T>G (p.Met2364Arg)
c.*6413T>G (n.*6413T>G)
c.230+13713T>G
c.7121T>G (p.Met2374Arg)
c.7016T>G (p.Met2339Arg)
c.7007T>G (p.Met2336Arg)
c.6968T>G (p.Met2323Arg)
c.6914T>G (p.Met2305Arg)
c.6818T>G (p.Met2273Arg)
c.6788T>G (p.Met2263Arg)
c.6713T>G (p.Met2238Arg)
c.6611T>G (p.Met2204Arg)
c.6242T>G (p.Met2081Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.112842685T=CA1573466709APCc.7145T= (p.Met2382=)
c.*7097T= (n.*7097T=)
c.7037T= (p.Met2346=)
c.7091T= (p.Met2364=)
c.*6413T= (n.*6413T=)
c.230+13713T=
c.7121T= (p.Met2374=)
c.7016T= (p.Met2339=)
c.7007T= (p.Met2336=)
c.6968T= (p.Met2323=)
c.6914T= (p.Met2305=)
c.6818T= (p.Met2273=)
c.6788T= (p.Met2263=)
c.6713T= (p.Met2238=)
c.6611T= (p.Met2204=)
c.6242T= (p.Met2081=)
5g.112842686G>ACA16036777APCc.7146G>A (p.Met2382Ile)
c.*7098G>A (n.*7098G>A)
c.7038G>A (p.Met2346Ile)
c.7092G>A (p.Met2364Ile)
c.*6414G>A (n.*6414G>A)
c.230+13714G>A
c.7122G>A (p.Met2374Ile)
c.7017G>A (p.Met2339Ile)
c.7008G>A (p.Met2336Ile)
c.6969G>A (p.Met2323Ile)
c.6915G>A (p.Met2305Ile)
c.6819G>A (p.Met2273Ile)
c.6789G>A (p.Met2263Ile)
c.6714G>A (p.Met2238Ile)
c.6612G>A (p.Met2204Ile)
c.6243G>A (p.Met2081Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112842686G>CCA16036778APCc.7146G>C (p.Met2382Ile)
c.*7098G>C (n.*7098G>C)
c.7038G>C (p.Met2346Ile)
c.7092G>C (p.Met2364Ile)
c.*6414G>C (n.*6414G>C)
c.230+13714G>C
c.7122G>C (p.Met2374Ile)
c.7017G>C (p.Met2339Ile)
c.7008G>C (p.Met2336Ile)
c.6969G>C (p.Met2323Ile)
c.6915G>C (p.Met2305Ile)
c.6819G>C (p.Met2273Ile)
c.6789G>C (p.Met2263Ile)
c.6714G>C (p.Met2238Ile)
c.6612G>C (p.Met2204Ile)
c.6243G>C (p.Met2081Ile)
dbSNP
5g.112842686G=CA1573466717APCc.7146G= (p.Met2382=)
c.*7098G= (n.*7098G=)
c.7038G= (p.Met2346=)
c.7092G= (p.Met2364=)
c.*6414G= (n.*6414G=)
c.230+13714G=
c.7122G= (p.Met2374=)
c.7017G= (p.Met2339=)
c.7008G= (p.Met2336=)
c.6969G= (p.Met2323=)
c.6915G= (p.Met2305=)
c.6819G= (p.Met2273=)
c.6789G= (p.Met2263=)
c.6714G= (p.Met2238=)
c.6612G= (p.Met2204=)
c.6243G= (p.Met2081=)
5g.112842686G>TCA16036779APCc.7146G>T (p.Met2382Ile)
c.*7098G>T (n.*7098G>T)
c.7038G>T (p.Met2346Ile)
c.7092G>T (p.Met2364Ile)
c.*6414G>T (n.*6414G>T)
c.230+13714G>T
c.7122G>T (p.Met2374Ile)
c.7017G>T (p.Met2339Ile)
c.7008G>T (p.Met2336Ile)
c.6969G>T (p.Met2323Ile)
c.6915G>T (p.Met2305Ile)
c.6819G>T (p.Met2273Ile)
c.6789G>T (p.Met2263Ile)
c.6714G>T (p.Met2238Ile)
c.6612G>T (p.Met2204Ile)
c.6243G>T (p.Met2081Ile)
dbSNP
5g.112842686_112842688delCA2674868404APCc.7146_7148del (p.Met2382_Ser2383delinsIle)
c.*7098_*7100del (n.*7098_*7100del)
c.7038_7040del (p.Met2346_Ser2347delinsIle)
c.7092_7094del (p.Met2364_Ser2365delinsIle)
c.*6414_*6416del (n.*6414_*6416del)
c.230+13714_230+13716del
c.7122_7124del (p.Met2374_Ser2375delinsIle)
c.7017_7019del (p.Met2339_Ser2340delinsIle)
c.7008_7010del (p.Met2336_Ser2337delinsIle)
c.6969_6971del (p.Met2323_Ser2324delinsIle)
c.6915_6917del (p.Met2305_Ser2306delinsIle)
c.6819_6821del (p.Met2273_Ser2274delinsIle)
c.6789_6791del (p.Met2263_Ser2264delinsIle)
c.6714_6716del (p.Met2238_Ser2239delinsIle)
c.6612_6614del (p.Met2204_Ser2205delinsIle)
c.6243_6245del (p.Met2081_Ser2082delinsIle)
gnomAD v4
5g.112842687T>ACA16036780APCc.7147T>A (p.Ser2383Thr)
c.*7099T>A (n.*7099T>A)
c.7039T>A (p.Ser2347Thr)
c.7093T>A (p.Ser2365Thr)
c.*6415T>A (n.*6415T>A)
c.230+13715T>A
c.7123T>A (p.Ser2375Thr)
c.7018T>A (p.Ser2340Thr)
c.7009T>A (p.Ser2337Thr)
c.6970T>A (p.Ser2324Thr)
c.6916T>A (p.Ser2306Thr)
c.6820T>A (p.Ser2274Thr)
c.6790T>A (p.Ser2264Thr)
c.6715T>A (p.Ser2239Thr)
c.6613T>A (p.Ser2205Thr)
c.6244T>A (p.Ser2082Thr)
dbSNP
5g.112842687T>CCA16036781APCc.7147T>C (p.Ser2383Pro)
c.*7099T>C (n.*7099T>C)
c.7039T>C (p.Ser2347Pro)
c.7093T>C (p.Ser2365Pro)
c.*6415T>C (n.*6415T>C)
c.230+13715T>C
c.7123T>C (p.Ser2375Pro)
c.7018T>C (p.Ser2340Pro)
c.7009T>C (p.Ser2337Pro)
c.6970T>C (p.Ser2324Pro)
c.6916T>C (p.Ser2306Pro)
c.6820T>C (p.Ser2274Pro)
c.6790T>C (p.Ser2264Pro)
c.6715T>C (p.Ser2239Pro)
c.6613T>C (p.Ser2205Pro)
c.6244T>C (p.Ser2082Pro)
ClinVar dbSNP
5g.112842687T>GCA16036782APCc.7147T>G (p.Ser2383Ala)
c.*7099T>G (n.*7099T>G)
c.7039T>G (p.Ser2347Ala)
c.7093T>G (p.Ser2365Ala)
c.*6415T>G (n.*6415T>G)
c.230+13715T>G
c.7123T>G (p.Ser2375Ala)
c.7018T>G (p.Ser2340Ala)
c.7009T>G (p.Ser2337Ala)
c.6970T>G (p.Ser2324Ala)
c.6916T>G (p.Ser2306Ala)
c.6820T>G (p.Ser2274Ala)
c.6790T>G (p.Ser2264Ala)
c.6715T>G (p.Ser2239Ala)
c.6613T>G (p.Ser2205Ala)
c.6244T>G (p.Ser2082Ala)
dbSNP
5g.112842687T=CA1573466719APCc.7147T= (p.Ser2383=)
c.*7099T= (n.*7099T=)
c.7039T= (p.Ser2347=)
c.7093T= (p.Ser2365=)
c.*6415T= (n.*6415T=)
c.230+13715T=
c.7123T= (p.Ser2375=)
c.7018T= (p.Ser2340=)
c.7009T= (p.Ser2337=)
c.6970T= (p.Ser2324=)
c.6916T= (p.Ser2306=)
c.6820T= (p.Ser2274=)
c.6790T= (p.Ser2264=)
c.6715T= (p.Ser2239=)
c.6613T= (p.Ser2205=)
c.6244T= (p.Ser2082=)
5g.112842688C>ACA16036783APCc.7148C>A (p.Ser2383Ter)
c.*7100C>A (n.*7100C>A)
c.7040C>A (p.Ser2347Ter)
c.7094C>A (p.Ser2365Ter)
c.*6416C>A (n.*6416C>A)
c.230+13716C>A
c.7124C>A (p.Ser2375Ter)
c.7019C>A (p.Ser2340Ter)
c.7010C>A (p.Ser2337Ter)
c.6971C>A (p.Ser2324Ter)
c.6917C>A (p.Ser2306Ter)
c.6821C>A (p.Ser2274Ter)
c.6791C>A (p.Ser2264Ter)
c.6716C>A (p.Ser2239Ter)
c.6614C>A (p.Ser2205Ter)
c.6245C>A (p.Ser2082Ter)
dbSNP
5g.112842688C>GCA16036784APCc.7148C>G (p.Ser2383Ter)
c.*7100C>G (n.*7100C>G)
c.7040C>G (p.Ser2347Ter)
c.7094C>G (p.Ser2365Ter)
c.*6416C>G (n.*6416C>G)
c.230+13716C>G
c.7124C>G (p.Ser2375Ter)
c.7019C>G (p.Ser2340Ter)
c.7010C>G (p.Ser2337Ter)
c.6971C>G (p.Ser2324Ter)
c.6917C>G (p.Ser2306Ter)
c.6821C>G (p.Ser2274Ter)
c.6791C>G (p.Ser2264Ter)
c.6716C>G (p.Ser2239Ter)
c.6614C>G (p.Ser2205Ter)
c.6245C>G (p.Ser2082Ter)
5g.112842688C>TCA16036785APCc.7148C>T (p.Ser2383Leu)
c.*7100C>T (n.*7100C>T)
c.7040C>T (p.Ser2347Leu)
c.7094C>T (p.Ser2365Leu)
c.*6416C>T (n.*6416C>T)
c.230+13716C>T
c.7124C>T (p.Ser2375Leu)
c.7019C>T (p.Ser2340Leu)
c.7010C>T (p.Ser2337Leu)
c.6971C>T (p.Ser2324Leu)
c.6917C>T (p.Ser2306Leu)
c.6821C>T (p.Ser2274Leu)
c.6791C>T (p.Ser2264Leu)
c.6716C>T (p.Ser2239Leu)
c.6614C>T (p.Ser2205Leu)
c.6245C>T (p.Ser2082Leu)
dbSNP
5g.112842689A=CA1573466723APCc.7149A= (p.Ser2383=)
c.*7101A= (n.*7101A=)
c.7041A= (p.Ser2347=)
c.7095A= (p.Ser2365=)
c.*6417A= (n.*6417A=)
c.230+13717A=
c.7125A= (p.Ser2375=)
c.7020A= (p.Ser2340=)
c.7011A= (p.Ser2337=)
c.6972A= (p.Ser2324=)
c.6918A= (p.Ser2306=)
c.6822A= (p.Ser2274=)
c.6792A= (p.Ser2264=)
c.6717A= (p.Ser2239=)
c.6615A= (p.Ser2205=)
c.6246A= (p.Ser2082=)
5g.112842689A>CCA446210041APCc.7149A>C (p.Ser2383=)
c.*7101A>C (n.*7101A>C)
c.7041A>C (p.Ser2347=)
c.7095A>C (p.Ser2365=)
c.*6417A>C (n.*6417A>C)
c.230+13717A>C
c.7125A>C (p.Ser2375=)
c.7020A>C (p.Ser2340=)
c.7011A>C (p.Ser2337=)
c.6972A>C (p.Ser2324=)
c.6918A>C (p.Ser2306=)
c.6822A>C (p.Ser2274=)
c.6792A>C (p.Ser2264=)
c.6717A>C (p.Ser2239=)
c.6615A>C (p.Ser2205=)
c.6246A>C (p.Ser2082=)
5g.112842689A>GCA046884APCc.7149A>G (p.Ser2383=)
c.*7101A>G (n.*7101A>G)
c.7041A>G (p.Ser2347=)
c.7095A>G (p.Ser2365=)
c.*6417A>G (n.*6417A>G)
c.230+13717A>G
c.7125A>G (p.Ser2375=)
c.7020A>G (p.Ser2340=)
c.7011A>G (p.Ser2337=)
c.6972A>G (p.Ser2324=)
c.6918A>G (p.Ser2306=)
c.6822A>G (p.Ser2274=)
c.6792A>G (p.Ser2264=)
c.6717A>G (p.Ser2239=)
c.6615A>G (p.Ser2205=)
c.6246A>G (p.Ser2082=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842689A>TCA446210042APCc.7149A>T (p.Ser2383=)
c.*7101A>T (n.*7101A>T)
c.7041A>T (p.Ser2347=)
c.7095A>T (p.Ser2365=)
c.*6417A>T (n.*6417A>T)
c.230+13717A>T
c.7125A>T (p.Ser2375=)
c.7020A>T (p.Ser2340=)
c.7011A>T (p.Ser2337=)
c.6972A>T (p.Ser2324=)
c.6918A>T (p.Ser2306=)
c.6822A>T (p.Ser2274=)
c.6792A>T (p.Ser2264=)
c.6717A>T (p.Ser2239=)
c.6615A>T (p.Ser2205=)
c.6246A>T (p.Ser2082=)
dbSNP
5g.112842690T>ACA16036786APCc.7150T>A (p.Tyr2384Asn)
c.*7102T>A (n.*7102T>A)
c.7042T>A (p.Tyr2348Asn)
c.7096T>A (p.Tyr2366Asn)
c.*6418T>A (n.*6418T>A)
c.230+13718T>A
c.7126T>A (p.Tyr2376Asn)
c.7021T>A (p.Tyr2341Asn)
c.7012T>A (p.Tyr2338Asn)
c.6973T>A (p.Tyr2325Asn)
c.6919T>A (p.Tyr2307Asn)
c.6823T>A (p.Tyr2275Asn)
c.6793T>A (p.Tyr2265Asn)
c.6718T>A (p.Tyr2240Asn)
c.6616T>A (p.Tyr2206Asn)
c.6247T>A (p.Tyr2083Asn)
dbSNP
5g.112842690T>CCA16036787APCc.7150T>C (p.Tyr2384His)
c.*7102T>C (n.*7102T>C)
c.7042T>C (p.Tyr2348His)
c.7096T>C (p.Tyr2366His)
c.*6418T>C (n.*6418T>C)
c.230+13718T>C
c.7126T>C (p.Tyr2376His)
c.7021T>C (p.Tyr2341His)
c.7012T>C (p.Tyr2338His)
c.6973T>C (p.Tyr2325His)
c.6919T>C (p.Tyr2307His)
c.6823T>C (p.Tyr2275His)
c.6793T>C (p.Tyr2265His)
c.6718T>C (p.Tyr2240His)
c.6616T>C (p.Tyr2206His)
c.6247T>C (p.Tyr2083His)
ClinVar dbSNP
5g.112842690T>GCA16036788APCc.7150T>G (p.Tyr2384Asp)
c.*7102T>G (n.*7102T>G)
c.7042T>G (p.Tyr2348Asp)
c.7096T>G (p.Tyr2366Asp)
c.*6418T>G (n.*6418T>G)
c.230+13718T>G
c.7126T>G (p.Tyr2376Asp)
c.7021T>G (p.Tyr2341Asp)
c.7012T>G (p.Tyr2338Asp)
c.6973T>G (p.Tyr2325Asp)
c.6919T>G (p.Tyr2307Asp)
c.6823T>G (p.Tyr2275Asp)
c.6793T>G (p.Tyr2265Asp)
c.6718T>G (p.Tyr2240Asp)
c.6616T>G (p.Tyr2206Asp)
c.6247T>G (p.Tyr2083Asp)
dbSNP
5g.112842690T=CA1573466730APCc.7150T= (p.Tyr2384=)
c.*7102T= (n.*7102T=)
c.7042T= (p.Tyr2348=)
c.7096T= (p.Tyr2366=)
c.*6418T= (n.*6418T=)
c.230+13718T=
c.7126T= (p.Tyr2376=)
c.7021T= (p.Tyr2341=)
c.7012T= (p.Tyr2338=)
c.6973T= (p.Tyr2325=)
c.6919T= (p.Tyr2307=)
c.6823T= (p.Tyr2275=)
c.6793T= (p.Tyr2265=)
c.6718T= (p.Tyr2240=)
c.6616T= (p.Tyr2206=)
c.6247T= (p.Tyr2083=)
5g.112842691A=CA1573466739APCc.7151A= (p.Tyr2384=)
c.*7103A= (n.*7103A=)
c.7043A= (p.Tyr2348=)
c.7097A= (p.Tyr2366=)
c.*6419A= (n.*6419A=)
c.230+13719A=
c.7127A= (p.Tyr2376=)
c.7022A= (p.Tyr2341=)
c.7013A= (p.Tyr2338=)
c.6974A= (p.Tyr2325=)
c.6920A= (p.Tyr2307=)
c.6824A= (p.Tyr2275=)
c.6794A= (p.Tyr2265=)
c.6719A= (p.Tyr2240=)
c.6617A= (p.Tyr2206=)
c.6248A= (p.Tyr2083=)
5g.112842691A>CCA16036789APCc.7151A>C (p.Tyr2384Ser)
c.*7103A>C (n.*7103A>C)
c.7043A>C (p.Tyr2348Ser)
c.7097A>C (p.Tyr2366Ser)
c.*6419A>C (n.*6419A>C)
c.230+13719A>C
c.7127A>C (p.Tyr2376Ser)
c.7022A>C (p.Tyr2341Ser)
c.7013A>C (p.Tyr2338Ser)
c.6974A>C (p.Tyr2325Ser)
c.6920A>C (p.Tyr2307Ser)
c.6824A>C (p.Tyr2275Ser)
c.6794A>C (p.Tyr2265Ser)
c.6719A>C (p.Tyr2240Ser)
c.6617A>C (p.Tyr2206Ser)
c.6248A>C (p.Tyr2083Ser)
dbSNP
5g.112842691A>GCA16036790APCc.7151A>G (p.Tyr2384Cys)
c.*7103A>G (n.*7103A>G)
c.7043A>G (p.Tyr2348Cys)
c.7097A>G (p.Tyr2366Cys)
c.*6419A>G (n.*6419A>G)
c.230+13719A>G
c.7127A>G (p.Tyr2376Cys)
c.7022A>G (p.Tyr2341Cys)
c.7013A>G (p.Tyr2338Cys)
c.6974A>G (p.Tyr2325Cys)
c.6920A>G (p.Tyr2307Cys)
c.6824A>G (p.Tyr2275Cys)
c.6794A>G (p.Tyr2265Cys)
c.6719A>G (p.Tyr2240Cys)
c.6617A>G (p.Tyr2206Cys)
c.6248A>G (p.Tyr2083Cys)
ClinVar dbSNP gnomAD v4
5g.112842691A>TCA16036791APCc.7151A>T (p.Tyr2384Phe)
c.*7103A>T (n.*7103A>T)
c.7043A>T (p.Tyr2348Phe)
c.7097A>T (p.Tyr2366Phe)
c.*6419A>T (n.*6419A>T)
c.230+13719A>T
c.7127A>T (p.Tyr2376Phe)
c.7022A>T (p.Tyr2341Phe)
c.7013A>T (p.Tyr2338Phe)
c.6974A>T (p.Tyr2325Phe)
c.6920A>T (p.Tyr2307Phe)
c.6824A>T (p.Tyr2275Phe)
c.6794A>T (p.Tyr2265Phe)
c.6719A>T (p.Tyr2240Phe)
c.6617A>T (p.Tyr2206Phe)
c.6248A>T (p.Tyr2083Phe)
dbSNP
5g.112842692T>ACA16036792APCc.7152T>A (p.Tyr2384Ter)
c.*7104T>A (n.*7104T>A)
c.7044T>A (p.Tyr2348Ter)
c.7098T>A (p.Tyr2366Ter)
c.*6420T>A (n.*6420T>A)
c.230+13720T>A
c.7128T>A (p.Tyr2376Ter)
c.7023T>A (p.Tyr2341Ter)
c.7014T>A (p.Tyr2338Ter)
c.6975T>A (p.Tyr2325Ter)
c.6921T>A (p.Tyr2307Ter)
c.6825T>A (p.Tyr2275Ter)
c.6795T>A (p.Tyr2265Ter)
c.6720T>A (p.Tyr2240Ter)
c.6618T>A (p.Tyr2206Ter)
c.6249T>A (p.Tyr2083Ter)
dbSNP
5g.112842692T>CCA012835APCc.7152T>C (p.Tyr2384=)
c.*7104T>C (n.*7104T>C)
c.7044T>C (p.Tyr2348=)
c.7098T>C (p.Tyr2366=)
c.*6420T>C (n.*6420T>C)
c.230+13720T>C
c.7128T>C (p.Tyr2376=)
c.7023T>C (p.Tyr2341=)
c.7014T>C (p.Tyr2338=)
c.6975T>C (p.Tyr2325=)
c.6921T>C (p.Tyr2307=)
c.6825T>C (p.Tyr2275=)
c.6795T>C (p.Tyr2265=)
c.6720T>C (p.Tyr2240=)
c.6618T>C (p.Tyr2206=)
c.6249T>C (p.Tyr2083=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842692T>GCA16036793APCc.7152T>G (p.Tyr2384Ter)
c.*7104T>G (n.*7104T>G)
c.7044T>G (p.Tyr2348Ter)
c.7098T>G (p.Tyr2366Ter)
c.*6420T>G (n.*6420T>G)
c.230+13720T>G
c.7128T>G (p.Tyr2376Ter)
c.7023T>G (p.Tyr2341Ter)
c.7014T>G (p.Tyr2338Ter)
c.6975T>G (p.Tyr2325Ter)
c.6921T>G (p.Tyr2307Ter)
c.6825T>G (p.Tyr2275Ter)
c.6795T>G (p.Tyr2265Ter)
c.6720T>G (p.Tyr2240Ter)
c.6618T>G (p.Tyr2206Ter)
c.6249T>G (p.Tyr2083Ter)
dbSNP
5g.112842692T=CA1573466753APCc.7152T= (p.Tyr2384=)
c.*7104T= (n.*7104T=)
c.7044T= (p.Tyr2348=)
c.7098T= (p.Tyr2366=)
c.*6420T= (n.*6420T=)
c.230+13720T=
c.7128T= (p.Tyr2376=)
c.7023T= (p.Tyr2341=)
c.7014T= (p.Tyr2338=)
c.6975T= (p.Tyr2325=)
c.6921T= (p.Tyr2307=)
c.6825T= (p.Tyr2275=)
c.6795T= (p.Tyr2265=)
c.6720T= (p.Tyr2240=)
c.6618T= (p.Tyr2206=)
c.6249T= (p.Tyr2083=)
5g.112842693A=CA1573466775APCc.7153A= (p.Thr2385=)
c.*7105A= (n.*7105A=)
c.7045A= (p.Thr2349=)
c.7099A= (p.Thr2367=)
c.*6421A= (n.*6421A=)
c.230+13721A=
c.7129A= (p.Thr2377=)
c.7024A= (p.Thr2342=)
c.7015A= (p.Thr2339=)
c.6976A= (p.Thr2326=)
c.6922A= (p.Thr2308=)
c.6826A= (p.Thr2276=)
c.6796A= (p.Thr2266=)
c.6721A= (p.Thr2241=)
c.6619A= (p.Thr2207=)
c.6250A= (p.Thr2084=)
5g.112842693A>CCA16036794APCc.7153A>C (p.Thr2385Pro)
c.*7105A>C (n.*7105A>C)
c.7045A>C (p.Thr2349Pro)
c.7099A>C (p.Thr2367Pro)
c.*6421A>C (n.*6421A>C)
c.230+13721A>C
c.7129A>C (p.Thr2377Pro)
c.7024A>C (p.Thr2342Pro)
c.7015A>C (p.Thr2339Pro)
c.6976A>C (p.Thr2326Pro)
c.6922A>C (p.Thr2308Pro)
c.6826A>C (p.Thr2276Pro)
c.6796A>C (p.Thr2266Pro)
c.6721A>C (p.Thr2241Pro)
c.6619A>C (p.Thr2207Pro)
c.6250A>C (p.Thr2084Pro)
dbSNP
5g.112842693A>GCA046911APCc.7153A>G (p.Thr2385Ala)
c.*7105A>G (n.*7105A>G)
c.7045A>G (p.Thr2349Ala)
c.7099A>G (p.Thr2367Ala)
c.*6421A>G (n.*6421A>G)
c.230+13721A>G
c.7129A>G (p.Thr2377Ala)
c.7024A>G (p.Thr2342Ala)
c.7015A>G (p.Thr2339Ala)
c.6976A>G (p.Thr2326Ala)
c.6922A>G (p.Thr2308Ala)
c.6826A>G (p.Thr2276Ala)
c.6796A>G (p.Thr2266Ala)
c.6721A>G (p.Thr2241Ala)
c.6619A>G (p.Thr2207Ala)
c.6250A>G (p.Thr2084Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842693A>TCA16036795APCc.7153A>T (p.Thr2385Ser)
c.*7105A>T (n.*7105A>T)
c.7045A>T (p.Thr2349Ser)
c.7099A>T (p.Thr2367Ser)
c.*6421A>T (n.*6421A>T)
c.230+13721A>T
c.7129A>T (p.Thr2377Ser)
c.7024A>T (p.Thr2342Ser)
c.7015A>T (p.Thr2339Ser)
c.6976A>T (p.Thr2326Ser)
c.6922A>T (p.Thr2308Ser)
c.6826A>T (p.Thr2276Ser)
c.6796A>T (p.Thr2266Ser)
c.6721A>T (p.Thr2241Ser)
c.6619A>T (p.Thr2207Ser)
c.6250A>T (p.Thr2084Ser)
dbSNP
5g.112842694C>ACA16036796APCc.7154C>A (p.Thr2385Lys)
c.*7106C>A (n.*7106C>A)
c.7046C>A (p.Thr2349Lys)
c.7100C>A (p.Thr2367Lys)
c.*6422C>A (n.*6422C>A)
c.230+13722C>A
c.7130C>A (p.Thr2377Lys)
c.7025C>A (p.Thr2342Lys)
c.7016C>A (p.Thr2339Lys)
c.6977C>A (p.Thr2326Lys)
c.6923C>A (p.Thr2308Lys)
c.6827C>A (p.Thr2276Lys)
c.6797C>A (p.Thr2266Lys)
c.6722C>A (p.Thr2241Lys)
c.6620C>A (p.Thr2207Lys)
c.6251C>A (p.Thr2084Lys)
dbSNP
5g.112842694C=CA1573466784APCc.7154C= (p.Thr2385=)
c.*7106C= (n.*7106C=)
c.7046C= (p.Thr2349=)
c.7100C= (p.Thr2367=)
c.*6422C= (n.*6422C=)
c.230+13722C=
c.7130C= (p.Thr2377=)
c.7025C= (p.Thr2342=)
c.7016C= (p.Thr2339=)
c.6977C= (p.Thr2326=)
c.6923C= (p.Thr2308=)
c.6827C= (p.Thr2276=)
c.6797C= (p.Thr2266=)
c.6722C= (p.Thr2241=)
c.6620C= (p.Thr2207=)
c.6251C= (p.Thr2084=)
5g.112842694C>GCA16036797APCc.7154C>G (p.Thr2385Arg)
c.*7106C>G (n.*7106C>G)
c.7046C>G (p.Thr2349Arg)
c.7100C>G (p.Thr2367Arg)
c.*6422C>G (n.*6422C>G)
c.230+13722C>G
c.7130C>G (p.Thr2377Arg)
c.7025C>G (p.Thr2342Arg)
c.7016C>G (p.Thr2339Arg)
c.6977C>G (p.Thr2326Arg)
c.6923C>G (p.Thr2308Arg)
c.6827C>G (p.Thr2276Arg)
c.6797C>G (p.Thr2266Arg)
c.6722C>G (p.Thr2241Arg)
c.6620C>G (p.Thr2207Arg)
c.6251C>G (p.Thr2084Arg)
dbSNP
5g.112842694C>TCA16036798APCc.7154C>T (p.Thr2385Ile)
c.*7106C>T (n.*7106C>T)
c.7046C>T (p.Thr2349Ile)
c.7100C>T (p.Thr2367Ile)
c.*6422C>T (n.*6422C>T)
c.230+13722C>T
c.7130C>T (p.Thr2377Ile)
c.7025C>T (p.Thr2342Ile)
c.7016C>T (p.Thr2339Ile)
c.6977C>T (p.Thr2326Ile)
c.6923C>T (p.Thr2308Ile)
c.6827C>T (p.Thr2276Ile)
c.6797C>T (p.Thr2266Ile)
c.6722C>T (p.Thr2241Ile)
c.6620C>T (p.Thr2207Ile)
c.6251C>T (p.Thr2084Ile)
ClinVar dbSNP gnomAD v4
5g.112842695A>CCA446210058APCc.7155A>C (p.Thr2385=)
c.*7107A>C (n.*7107A>C)
c.7047A>C (p.Thr2349=)
c.7101A>C (p.Thr2367=)
c.*6423A>C (n.*6423A>C)
c.230+13723A>C
c.7131A>C (p.Thr2377=)
c.7026A>C (p.Thr2342=)
c.7017A>C (p.Thr2339=)
c.6978A>C (p.Thr2326=)
c.6924A>C (p.Thr2308=)
c.6828A>C (p.Thr2276=)
c.6798A>C (p.Thr2266=)
c.6723A>C (p.Thr2241=)
c.6621A>C (p.Thr2207=)
c.6252A>C (p.Thr2084=)
dbSNP
5g.112842695A>GCA446210059APCc.7155A>G (p.Thr2385=)
c.*7107A>G (n.*7107A>G)
c.7047A>G (p.Thr2349=)
c.7101A>G (p.Thr2367=)
c.*6423A>G (n.*6423A>G)
c.230+13723A>G
c.7131A>G (p.Thr2377=)
c.7026A>G (p.Thr2342=)
c.7017A>G (p.Thr2339=)
c.6978A>G (p.Thr2326=)
c.6924A>G (p.Thr2308=)
c.6828A>G (p.Thr2276=)
c.6798A>G (p.Thr2266=)
c.6723A>G (p.Thr2241=)
c.6621A>G (p.Thr2207=)
c.6252A>G (p.Thr2084=)
ClinVar dbSNP
5g.112842695A>TCA446210057APCc.7155A>T (p.Thr2385=)
c.*7107A>T (n.*7107A>T)
c.7047A>T (p.Thr2349=)
c.7101A>T (p.Thr2367=)
c.*6423A>T (n.*6423A>T)
c.230+13723A>T
c.7131A>T (p.Thr2377=)
c.7026A>T (p.Thr2342=)
c.7017A>T (p.Thr2339=)
c.6978A>T (p.Thr2326=)
c.6924A>T (p.Thr2308=)
c.6828A>T (p.Thr2276=)
c.6798A>T (p.Thr2266=)
c.6723A>T (p.Thr2241=)
c.6621A>T (p.Thr2207=)
c.6252A>T (p.Thr2084=)
dbSNP
5g.112842696T>ACA16036799APCc.7156T>A (p.Ser2386Thr)
c.*7108T>A (n.*7108T>A)
c.7048T>A (p.Ser2350Thr)
c.7102T>A (p.Ser2368Thr)
c.*6424T>A (n.*6424T>A)
c.230+13724T>A
c.7132T>A (p.Ser2378Thr)
c.7027T>A (p.Ser2343Thr)
c.7018T>A (p.Ser2340Thr)
c.6979T>A (p.Ser2327Thr)
c.6925T>A (p.Ser2309Thr)
c.6829T>A (p.Ser2277Thr)
c.6799T>A (p.Ser2267Thr)
c.6724T>A (p.Ser2242Thr)
c.6622T>A (p.Ser2208Thr)
c.6253T>A (p.Ser2085Thr)
dbSNP
5g.112842696T>CCA16036800APCc.7156T>C (p.Ser2386Pro)
c.*7108T>C (n.*7108T>C)
c.7048T>C (p.Ser2350Pro)
c.7102T>C (p.Ser2368Pro)
c.*6424T>C (n.*6424T>C)
c.230+13724T>C
c.7132T>C (p.Ser2378Pro)
c.7027T>C (p.Ser2343Pro)
c.7018T>C (p.Ser2340Pro)
c.6979T>C (p.Ser2327Pro)
c.6925T>C (p.Ser2309Pro)
c.6829T>C (p.Ser2277Pro)
c.6799T>C (p.Ser2267Pro)
c.6724T>C (p.Ser2242Pro)
c.6622T>C (p.Ser2208Pro)
c.6253T>C (p.Ser2085Pro)
dbSNP
5g.112842696T>GCA16036801APCc.7156T>G (p.Ser2386Ala)
c.*7108T>G (n.*7108T>G)
c.7048T>G (p.Ser2350Ala)
c.7102T>G (p.Ser2368Ala)
c.*6424T>G (n.*6424T>G)
c.230+13724T>G
c.7132T>G (p.Ser2378Ala)
c.7027T>G (p.Ser2343Ala)
c.7018T>G (p.Ser2340Ala)
c.6979T>G (p.Ser2327Ala)
c.6925T>G (p.Ser2309Ala)
c.6829T>G (p.Ser2277Ala)
c.6799T>G (p.Ser2267Ala)
c.6724T>G (p.Ser2242Ala)
c.6622T>G (p.Ser2208Ala)
c.6253T>G (p.Ser2085Ala)
dbSNP
5g.112842697C>ACA16036802APCc.7157C>A (p.Ser2386Tyr)
c.*7109C>A (n.*7109C>A)
c.7049C>A (p.Ser2350Tyr)
c.7103C>A (p.Ser2368Tyr)
c.*6425C>A (n.*6425C>A)
c.230+13725C>A
c.7133C>A (p.Ser2378Tyr)
c.7028C>A (p.Ser2343Tyr)
c.7019C>A (p.Ser2340Tyr)
c.6980C>A (p.Ser2327Tyr)
c.6926C>A (p.Ser2309Tyr)
c.6830C>A (p.Ser2277Tyr)
c.6800C>A (p.Ser2267Tyr)
c.6725C>A (p.Ser2242Tyr)
c.6623C>A (p.Ser2208Tyr)
c.6254C>A (p.Ser2085Tyr)
dbSNP
5g.112842697C=CA1573466790APCc.7157C= (p.Ser2386=)
c.*7109C= (n.*7109C=)
c.7049C= (p.Ser2350=)
c.7103C= (p.Ser2368=)
c.*6425C= (n.*6425C=)
c.230+13725C=
c.7133C= (p.Ser2378=)
c.7028C= (p.Ser2343=)
c.7019C= (p.Ser2340=)
c.6980C= (p.Ser2327=)
c.6926C= (p.Ser2309=)
c.6830C= (p.Ser2277=)
c.6800C= (p.Ser2267=)
c.6725C= (p.Ser2242=)
c.6623C= (p.Ser2208=)
c.6254C= (p.Ser2085=)
5g.112842697C>GCA16036803APCc.7157C>G (p.Ser2386Cys)
c.*7109C>G (n.*7109C>G)
c.7049C>G (p.Ser2350Cys)
c.7103C>G (p.Ser2368Cys)
c.*6425C>G (n.*6425C>G)
c.230+13725C>G
c.7133C>G (p.Ser2378Cys)
c.7028C>G (p.Ser2343Cys)
c.7019C>G (p.Ser2340Cys)
c.6980C>G (p.Ser2327Cys)
c.6926C>G (p.Ser2309Cys)
c.6830C>G (p.Ser2277Cys)
c.6800C>G (p.Ser2267Cys)
c.6725C>G (p.Ser2242Cys)
c.6623C>G (p.Ser2208Cys)
c.6254C>G (p.Ser2085Cys)
dbSNP
5g.112842697C>TCA046940APCc.7157C>T (p.Ser2386Phe)
c.*7109C>T (n.*7109C>T)
c.7049C>T (p.Ser2350Phe)
c.7103C>T (p.Ser2368Phe)
c.*6425C>T (n.*6425C>T)
c.230+13725C>T
c.7133C>T (p.Ser2378Phe)
c.7028C>T (p.Ser2343Phe)
c.7019C>T (p.Ser2340Phe)
c.6980C>T (p.Ser2327Phe)
c.6926C>T (p.Ser2309Phe)
c.6830C>T (p.Ser2277Phe)
c.6800C>T (p.Ser2267Phe)
c.6725C>T (p.Ser2242Phe)
c.6623C>T (p.Ser2208Phe)
c.6254C>T (p.Ser2085Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842698T>ACA446210067APCc.7158T>A (p.Ser2386=)
c.*7110T>A (n.*7110T>A)
c.7050T>A (p.Ser2350=)
c.7104T>A (p.Ser2368=)
c.*6426T>A (n.*6426T>A)
c.230+13726T>A
c.7134T>A (p.Ser2378=)
c.7029T>A (p.Ser2343=)
c.7020T>A (p.Ser2340=)
c.6981T>A (p.Ser2327=)
c.6927T>A (p.Ser2309=)
c.6831T>A (p.Ser2277=)
c.6801T>A (p.Ser2267=)
c.6726T>A (p.Ser2242=)
c.6624T>A (p.Ser2208=)
c.6255T>A (p.Ser2085=)
5g.112842698T>CCA446210066APCc.7158T>C (p.Ser2386=)
c.*7110T>C (n.*7110T>C)
c.7050T>C (p.Ser2350=)
c.7104T>C (p.Ser2368=)
c.*6426T>C (n.*6426T>C)
c.230+13726T>C
c.7134T>C (p.Ser2378=)
c.7029T>C (p.Ser2343=)
c.7020T>C (p.Ser2340=)
c.6981T>C (p.Ser2327=)
c.6927T>C (p.Ser2309=)
c.6831T>C (p.Ser2277=)
c.6801T>C (p.Ser2267=)
c.6726T>C (p.Ser2242=)
c.6624T>C (p.Ser2208=)
c.6255T>C (p.Ser2085=)
5g.112842698T>GCA446210065APCc.7158T>G (p.Ser2386=)
c.*7110T>G (n.*7110T>G)
c.7050T>G (p.Ser2350=)
c.7104T>G (p.Ser2368=)
c.*6426T>G (n.*6426T>G)
c.230+13726T>G
c.7134T>G (p.Ser2378=)
c.7029T>G (p.Ser2343=)
c.7020T>G (p.Ser2340=)
c.6981T>G (p.Ser2327=)
c.6927T>G (p.Ser2309=)
c.6831T>G (p.Ser2277=)
c.6801T>G (p.Ser2267=)
c.6726T>G (p.Ser2242=)
c.6624T>G (p.Ser2208=)
c.6255T>G (p.Ser2085=)
5g.112842698_112842701delinsTCCACA1573466799APCc.7158_7161delinsTCCA (p.Ser2386=)
c.*7110_*7113delinsTCCA (n.*7110_*7113delinsTCCA)
c.7050_7053delinsTCCA (p.Ser2350=)
c.7104_7107delinsTCCA (p.Ser2368=)
c.*6426_*6429delinsTCCA (n.*6426_*6429delinsTCCA)
c.230+13726_230+13729delinsTCCA
c.7134_7137delinsTCCA (p.Ser2378=)
c.7029_7032delinsTCCA (p.Ser2343=)
c.7020_7023delinsTCCA (p.Ser2340=)
c.6981_6984delinsTCCA (p.Ser2327=)
c.6927_6930delinsTCCA (p.Ser2309=)
c.6831_6834delinsTCCA (p.Ser2277=)
c.6801_6804delinsTCCA (p.Ser2267=)
c.6726_6729delinsTCCA (p.Ser2242=)
c.6624_6627delinsTCCA (p.Ser2208=)
c.6255_6258delinsTCCA (p.Ser2085=)
5g.112842698_112842713delinsTCCAGGTAGACAGATGCA1573466800APCc.7158_7173delinsTCCAGGTAGACAGATG (p.Ser2386=)
c.*7110_*7125delinsTCCAGGTAGACAGATG (n.*7110_*7125delinsTCCAGGTAGACAGATG)
c.7050_7065delinsTCCAGGTAGACAGATG (p.Ser2350=)
c.7104_7119delinsTCCAGGTAGACAGATG (p.Ser2368=)
c.*6426_*6441delinsTCCAGGTAGACAGATG (n.*6426_*6441delinsTCCAGGTAGACAGATG)
c.230+13726_230+13741delinsTCCAGGTAGACAGATG
c.7134_7149delinsTCCAGGTAGACAGATG (p.Ser2378=)
c.7029_7044delinsTCCAGGTAGACAGATG (p.Ser2343=)
c.7020_7035delinsTCCAGGTAGACAGATG (p.Ser2340=)
c.6981_6996delinsTCCAGGTAGACAGATG (p.Ser2327=)
c.6927_6942delinsTCCAGGTAGACAGATG (p.Ser2309=)
c.6831_6846delinsTCCAGGTAGACAGATG (p.Ser2277=)
c.6801_6816delinsTCCAGGTAGACAGATG (p.Ser2267=)
c.6726_6741delinsTCCAGGTAGACAGATG (p.Ser2242=)
c.6624_6639delinsTCCAGGTAGACAGATG (p.Ser2208=)
c.6255_6270delinsTCCAGGTAGACAGATG (p.Ser2085=)
5g.112842699C>ACA16036804APCc.7159C>A (p.Pro2387Thr)
c.*7111C>A (n.*7111C>A)
c.7051C>A (p.Pro2351Thr)
c.7105C>A (p.Pro2369Thr)
c.*6427C>A (n.*6427C>A)
c.230+13727C>A
c.7135C>A (p.Pro2379Thr)
c.7030C>A (p.Pro2344Thr)
c.7021C>A (p.Pro2341Thr)
c.6982C>A (p.Pro2328Thr)
c.6928C>A (p.Pro2310Thr)
c.6832C>A (p.Pro2278Thr)
c.6802C>A (p.Pro2268Thr)
c.6727C>A (p.Pro2243Thr)
c.6625C>A (p.Pro2209Thr)
c.6256C>A (p.Pro2086Thr)
dbSNP
5g.112842699C=CA1573466813APCc.7159C= (p.Pro2387=)
c.*7111C= (n.*7111C=)
c.7051C= (p.Pro2351=)
c.7105C= (p.Pro2369=)
c.*6427C= (n.*6427C=)
c.230+13727C=
c.7135C= (p.Pro2379=)
c.7030C= (p.Pro2344=)
c.7021C= (p.Pro2341=)
c.6982C= (p.Pro2328=)
c.6928C= (p.Pro2310=)
c.6832C= (p.Pro2278=)
c.6802C= (p.Pro2268=)
c.6727C= (p.Pro2243=)
c.6625C= (p.Pro2209=)
c.6256C= (p.Pro2086=)
5g.112842699C>GCA16036805APCc.7159C>G (p.Pro2387Ala)
c.*7111C>G (n.*7111C>G)
c.7051C>G (p.Pro2351Ala)
c.7105C>G (p.Pro2369Ala)
c.*6427C>G (n.*6427C>G)
c.230+13727C>G
c.7135C>G (p.Pro2379Ala)
c.7030C>G (p.Pro2344Ala)
c.7021C>G (p.Pro2341Ala)
c.6982C>G (p.Pro2328Ala)
c.6928C>G (p.Pro2310Ala)
c.6832C>G (p.Pro2278Ala)
c.6802C>G (p.Pro2268Ala)
c.6727C>G (p.Pro2243Ala)
c.6625C>G (p.Pro2209Ala)
c.6256C>G (p.Pro2086Ala)
ClinVar dbSNP
5g.112842699C>TCA046951APCc.7159C>T (p.Pro2387Ser)
c.*7111C>T (n.*7111C>T)
c.7051C>T (p.Pro2351Ser)
c.7105C>T (p.Pro2369Ser)
c.*6427C>T (n.*6427C>T)
c.230+13727C>T
c.7135C>T (p.Pro2379Ser)
c.7030C>T (p.Pro2344Ser)
c.7021C>T (p.Pro2341Ser)
c.6982C>T (p.Pro2328Ser)
c.6928C>T (p.Pro2310Ser)
c.6832C>T (p.Pro2278Ser)
c.6802C>T (p.Pro2268Ser)
c.6727C>T (p.Pro2243Ser)
c.6625C>T (p.Pro2209Ser)
c.6256C>T (p.Pro2086Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842699_112842701delCA16618093APCc.7159_7161del (p.Pro2387del)
c.*7111_*7113del (n.*7111_*7113del)
c.7051_7053del (p.Pro2351del)
c.7105_7107del (p.Pro2369del)
c.*6427_*6429del (n.*6427_*6429del)
c.230+13727_230+13729del
c.7135_7137del (p.Pro2379del)
c.7030_7032del (p.Pro2344del)
c.7021_7023del (p.Pro2341del)
c.6982_6984del (p.Pro2328del)
c.6928_6930del (p.Pro2310del)
c.6832_6834del (p.Pro2278del)
c.6802_6804del (p.Pro2268del)
c.6727_6729del (p.Pro2243del)
c.6625_6627del (p.Pro2209del)
c.6256_6258del (p.Pro2086del)
ClinVar dbSNP gnomAD v4
5g.112842699_112842703delCA2541354089APCc.7159_7163del (p.Pro2387Ter)
c.*7111_*7115del (n.*7111_*7115del)
c.7051_7055del (p.Pro2351Ter)
c.7105_7109del (p.Pro2369Ter)
c.*6427_*6431del (n.*6427_*6431del)
c.230+13727_230+13731del
c.7135_7139del (p.Pro2379Ter)
c.7030_7034del (p.Pro2344Ter)
c.7021_7025del (p.Pro2341Ter)
c.6982_6986del (p.Pro2328Ter)
c.6928_6932del (p.Pro2310Ter)
c.6832_6836del (p.Pro2278Ter)
c.6802_6806del (p.Pro2268Ter)
c.6727_6731del (p.Pro2243Ter)
c.6625_6629del (p.Pro2209Ter)
c.6256_6260del (p.Pro2086Ter)
5g.112842699_112842713delCA916080356APCc.7159_7173del (p.Pro2387_Met2391del)
c.*7111_*7125del (n.*7111_*7125del)
c.7051_7065del (p.Pro2351_Met2355del)
c.7105_7119del (p.Pro2369_Met2373del)
c.*6427_*6441del (n.*6427_*6441del)
c.230+13727_230+13741del
c.7135_7149del (p.Pro2379_Met2383del)
c.7030_7044del (p.Pro2344_Met2348del)
c.7021_7035del (p.Pro2341_Met2345del)
c.6982_6996del (p.Pro2328_Met2332del)
c.6928_6942del (p.Pro2310_Met2314del)
c.6832_6846del (p.Pro2278_Met2282del)
c.6802_6816del (p.Pro2268_Met2272del)
c.6727_6741del (p.Pro2243_Met2247del)
c.6625_6639del (p.Pro2209_Met2213del)
c.6256_6270del (p.Pro2086_Met2090del)
ClinVar dbSNP
5g.112842699_112842714delinsTCA2580072370APCc.7159_7174delinsT (p.Pro2387_Ser2392delinsCys)
c.*7111_*7126delinsT (n.*7111_*7126delinsT)
c.7051_7066delinsT (p.Pro2351_Ser2356delinsCys)
c.7105_7120delinsT (p.Pro2369_Ser2374delinsCys)
c.*6427_*6442delinsT (n.*6427_*6442delinsT)
c.230+13727_230+13742delinsT
c.7135_7150delinsT (p.Pro2379_Ser2384delinsCys)
c.7030_7045delinsT (p.Pro2344_Ser2349delinsCys)
c.7021_7036delinsT (p.Pro2341_Ser2346delinsCys)
c.6982_6997delinsT (p.Pro2328_Ser2333delinsCys)
c.6928_6943delinsT (p.Pro2310_Ser2315delinsCys)
c.6832_6847delinsT (p.Pro2278_Ser2283delinsCys)
c.6802_6817delinsT (p.Pro2268_Ser2273delinsCys)
c.6727_6742delinsT (p.Pro2243_Ser2248delinsCys)
c.6625_6640delinsT (p.Pro2209_Ser2214delinsCys)
c.6256_6271delinsT (p.Pro2086_Ser2091delinsCys)
ClinVar
5g.112842700C>ACA16036806APCc.7160C>A (p.Pro2387Gln)
c.*7112C>A (n.*7112C>A)
c.7052C>A (p.Pro2351Gln)
c.7106C>A (p.Pro2369Gln)
c.*6428C>A (n.*6428C>A)
c.230+13728C>A
c.7136C>A (p.Pro2379Gln)
c.7031C>A (p.Pro2344Gln)
c.7022C>A (p.Pro2341Gln)
c.6983C>A (p.Pro2328Gln)
c.6929C>A (p.Pro2310Gln)
c.6833C>A (p.Pro2278Gln)
c.6803C>A (p.Pro2268Gln)
c.6728C>A (p.Pro2243Gln)
c.6626C>A (p.Pro2209Gln)
c.6257C>A (p.Pro2086Gln)
dbSNP
5g.112842700C=CA1573466828APCc.7160C= (p.Pro2387=)
c.*7112C= (n.*7112C=)
c.7052C= (p.Pro2351=)
c.7106C= (p.Pro2369=)
c.*6428C= (n.*6428C=)
c.230+13728C=
c.7136C= (p.Pro2379=)
c.7031C= (p.Pro2344=)
c.7022C= (p.Pro2341=)
c.6983C= (p.Pro2328=)
c.6929C= (p.Pro2310=)
c.6833C= (p.Pro2278=)
c.6803C= (p.Pro2268=)
c.6728C= (p.Pro2243=)
c.6626C= (p.Pro2209=)
c.6257C= (p.Pro2086=)
5g.112842700C>GCA16036807APCc.7160C>G (p.Pro2387Arg)
c.*7112C>G (n.*7112C>G)
c.7052C>G (p.Pro2351Arg)
c.7106C>G (p.Pro2369Arg)
c.*6428C>G (n.*6428C>G)
c.230+13728C>G
c.7136C>G (p.Pro2379Arg)
c.7031C>G (p.Pro2344Arg)
c.7022C>G (p.Pro2341Arg)
c.6983C>G (p.Pro2328Arg)
c.6929C>G (p.Pro2310Arg)
c.6833C>G (p.Pro2278Arg)
c.6803C>G (p.Pro2268Arg)
c.6728C>G (p.Pro2243Arg)
c.6626C>G (p.Pro2209Arg)
c.6257C>G (p.Pro2086Arg)
dbSNP
5g.112842700C>TCA16036808APCc.7160C>T (p.Pro2387Leu)
c.*7112C>T (n.*7112C>T)
c.7052C>T (p.Pro2351Leu)
c.7106C>T (p.Pro2369Leu)
c.*6428C>T (n.*6428C>T)
c.230+13728C>T
c.7136C>T (p.Pro2379Leu)
c.7031C>T (p.Pro2344Leu)
c.7022C>T (p.Pro2341Leu)
c.6983C>T (p.Pro2328Leu)
c.6929C>T (p.Pro2310Leu)
c.6833C>T (p.Pro2278Leu)
c.6803C>T (p.Pro2268Leu)
c.6728C>T (p.Pro2243Leu)
c.6626C>T (p.Pro2209Leu)
c.6257C>T (p.Pro2086Leu)
ClinVar dbSNP
5g.112842701A=CA1573466839APCc.7161A= (p.Pro2387=)
c.*7113A= (n.*7113A=)
c.7053A= (p.Pro2351=)
c.7107A= (p.Pro2369=)
c.*6429A= (n.*6429A=)
c.230+13729A=
c.7137A= (p.Pro2379=)
c.7032A= (p.Pro2344=)
c.7023A= (p.Pro2341=)
c.6984A= (p.Pro2328=)
c.6930A= (p.Pro2310=)
c.6834A= (p.Pro2278=)
c.6804A= (p.Pro2268=)
c.6729A= (p.Pro2243=)
c.6627A= (p.Pro2209=)
c.6258A= (p.Pro2086=)
5g.112842701A>CCA446210071APCc.7161A>C (p.Pro2387=)
c.*7113A>C (n.*7113A>C)
c.7053A>C (p.Pro2351=)
c.7107A>C (p.Pro2369=)
c.*6429A>C (n.*6429A>C)
c.230+13729A>C
c.7137A>C (p.Pro2379=)
c.7032A>C (p.Pro2344=)
c.7023A>C (p.Pro2341=)
c.6984A>C (p.Pro2328=)
c.6930A>C (p.Pro2310=)
c.6834A>C (p.Pro2278=)
c.6804A>C (p.Pro2268=)
c.6729A>C (p.Pro2243=)
c.6627A>C (p.Pro2209=)
c.6258A>C (p.Pro2086=)
5g.112842701A>GCA125167815APCc.7161A>G (p.Pro2387=)
c.*7113A>G (n.*7113A>G)
c.7053A>G (p.Pro2351=)
c.7107A>G (p.Pro2369=)
c.*6429A>G (n.*6429A>G)
c.230+13729A>G
c.7137A>G (p.Pro2379=)
c.7032A>G (p.Pro2344=)
c.7023A>G (p.Pro2341=)
c.6984A>G (p.Pro2328=)
c.6930A>G (p.Pro2310=)
c.6834A>G (p.Pro2278=)
c.6804A>G (p.Pro2268=)
c.6729A>G (p.Pro2243=)
c.6627A>G (p.Pro2209=)
c.6258A>G (p.Pro2086=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112842701A>TCA446210073APCc.7161A>T (p.Pro2387=)
c.*7113A>T (n.*7113A>T)
c.7053A>T (p.Pro2351=)
c.7107A>T (p.Pro2369=)
c.*6429A>T (n.*6429A>T)
c.230+13729A>T
c.7137A>T (p.Pro2379=)
c.7032A>T (p.Pro2344=)
c.7023A>T (p.Pro2341=)
c.6984A>T (p.Pro2328=)
c.6930A>T (p.Pro2310=)
c.6834A>T (p.Pro2278=)
c.6804A>T (p.Pro2268=)
c.6729A>T (p.Pro2243=)
c.6627A>T (p.Pro2209=)
c.6258A>T (p.Pro2086=)
dbSNP
5g.112842702G>ACA16036809APCc.7162G>A (p.Gly2388Ser)
c.*7114G>A (n.*7114G>A)
c.7054G>A (p.Gly2352Ser)
c.7108G>A (p.Gly2370Ser)
c.*6430G>A (n.*6430G>A)
c.230+13730G>A
c.7138G>A (p.Gly2380Ser)
c.7033G>A (p.Gly2345Ser)
c.7024G>A (p.Gly2342Ser)
c.6985G>A (p.Gly2329Ser)
c.6931G>A (p.Gly2311Ser)
c.6835G>A (p.Gly2279Ser)
c.6805G>A (p.Gly2269Ser)
c.6730G>A (p.Gly2244Ser)
c.6628G>A (p.Gly2210Ser)
c.6259G>A (p.Gly2087Ser)
dbSNP
5g.112842702G>CCA16036810APCc.7162G>C (p.Gly2388Arg)
c.*7114G>C (n.*7114G>C)
c.7054G>C (p.Gly2352Arg)
c.7108G>C (p.Gly2370Arg)
c.*6430G>C (n.*6430G>C)
c.230+13730G>C
c.7138G>C (p.Gly2380Arg)
c.7033G>C (p.Gly2345Arg)
c.7024G>C (p.Gly2342Arg)
c.6985G>C (p.Gly2329Arg)
c.6931G>C (p.Gly2311Arg)
c.6835G>C (p.Gly2279Arg)
c.6805G>C (p.Gly2269Arg)
c.6730G>C (p.Gly2244Arg)
c.6628G>C (p.Gly2210Arg)
c.6259G>C (p.Gly2087Arg)
dbSNP gnomAD v3 gnomAD v4
5g.112842702G=CA1573466844APCc.7162G= (p.Gly2388=)
c.*7114G= (n.*7114G=)
c.7054G= (p.Gly2352=)
c.7108G= (p.Gly2370=)
c.*6430G= (n.*6430G=)
c.230+13730G=
c.7138G= (p.Gly2380=)
c.7033G= (p.Gly2345=)
c.7024G= (p.Gly2342=)
c.6985G= (p.Gly2329=)
c.6931G= (p.Gly2311=)
c.6835G= (p.Gly2279=)
c.6805G= (p.Gly2269=)
c.6730G= (p.Gly2244=)
c.6628G= (p.Gly2210=)
c.6259G= (p.Gly2087=)
5g.112842702G>TCA16036811APCc.7162G>T (p.Gly2388Cys)
c.*7114G>T (n.*7114G>T)
c.7054G>T (p.Gly2352Cys)
c.7108G>T (p.Gly2370Cys)
c.*6430G>T (n.*6430G>T)
c.230+13730G>T
c.7138G>T (p.Gly2380Cys)
c.7033G>T (p.Gly2345Cys)
c.7024G>T (p.Gly2342Cys)
c.6985G>T (p.Gly2329Cys)
c.6931G>T (p.Gly2311Cys)
c.6835G>T (p.Gly2279Cys)
c.6805G>T (p.Gly2269Cys)
c.6730G>T (p.Gly2244Cys)
c.6628G>T (p.Gly2210Cys)
c.6259G>T (p.Gly2087Cys)
dbSNP
5g.112842703G>ACA16036812APCc.7163G>A (p.Gly2388Asp)
c.*7115G>A (n.*7115G>A)
c.7055G>A (p.Gly2352Asp)
c.7109G>A (p.Gly2370Asp)
c.*6431G>A (n.*6431G>A)
c.230+13731G>A
c.7139G>A (p.Gly2380Asp)
c.7034G>A (p.Gly2345Asp)
c.7025G>A (p.Gly2342Asp)
c.6986G>A (p.Gly2329Asp)
c.6932G>A (p.Gly2311Asp)
c.6836G>A (p.Gly2279Asp)
c.6806G>A (p.Gly2269Asp)
c.6731G>A (p.Gly2244Asp)
c.6629G>A (p.Gly2210Asp)
c.6260G>A (p.Gly2087Asp)
ClinVar dbSNP
5g.112842703G>CCA16036813APCc.7163G>C (p.Gly2388Ala)
c.*7115G>C (n.*7115G>C)
c.7055G>C (p.Gly2352Ala)
c.7109G>C (p.Gly2370Ala)
c.*6431G>C (n.*6431G>C)
c.230+13731G>C
c.7139G>C (p.Gly2380Ala)
c.7034G>C (p.Gly2345Ala)
c.7025G>C (p.Gly2342Ala)
c.6986G>C (p.Gly2329Ala)
c.6932G>C (p.Gly2311Ala)
c.6836G>C (p.Gly2279Ala)
c.6806G>C (p.Gly2269Ala)
c.6731G>C (p.Gly2244Ala)
c.6629G>C (p.Gly2210Ala)
c.6260G>C (p.Gly2087Ala)
dbSNP
5g.112842703G=CA1573466849APCc.7163G= (p.Gly2388=)
c.*7115G= (n.*7115G=)
c.7055G= (p.Gly2352=)
c.7109G= (p.Gly2370=)
c.*6431G= (n.*6431G=)
c.230+13731G=
c.7139G= (p.Gly2380=)
c.7034G= (p.Gly2345=)
c.7025G= (p.Gly2342=)
c.6986G= (p.Gly2329=)
c.6932G= (p.Gly2311=)
c.6836G= (p.Gly2279=)
c.6806G= (p.Gly2269=)
c.6731G= (p.Gly2244=)
c.6629G= (p.Gly2210=)
c.6260G= (p.Gly2087=)
5g.112842703G>TCA046963APCc.7163G>T (p.Gly2388Val)
c.*7115G>T (n.*7115G>T)
c.7055G>T (p.Gly2352Val)
c.7109G>T (p.Gly2370Val)
c.*6431G>T (n.*6431G>T)
c.230+13731G>T
c.7139G>T (p.Gly2380Val)
c.7034G>T (p.Gly2345Val)
c.7025G>T (p.Gly2342Val)
c.6986G>T (p.Gly2329Val)
c.6932G>T (p.Gly2311Val)
c.6836G>T (p.Gly2279Val)
c.6806G>T (p.Gly2269Val)
c.6731G>T (p.Gly2244Val)
c.6629G>T (p.Gly2210Val)
c.6260G>T (p.Gly2087Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112842704T>ACA446210076APCc.7164T>A (p.Gly2388=)
c.*7116T>A (n.*7116T>A)
c.7056T>A (p.Gly2352=)
c.7110T>A (p.Gly2370=)
c.*6432T>A (n.*6432T>A)
c.230+13732T>A
c.7140T>A (p.Gly2380=)
c.7035T>A (p.Gly2345=)
c.7026T>A (p.Gly2342=)
c.6987T>A (p.Gly2329=)
c.6933T>A (p.Gly2311=)
c.6837T>A (p.Gly2279=)
c.6807T>A (p.Gly2269=)
c.6732T>A (p.Gly2244=)
c.6630T>A (p.Gly2210=)
c.6261T>A (p.Gly2087=)
dbSNP
5g.112842704T>CCA446210079APCc.7164T>C (p.Gly2388=)
c.*7116T>C (n.*7116T>C)
c.7056T>C (p.Gly2352=)
c.7110T>C (p.Gly2370=)
c.*6432T>C (n.*6432T>C)
c.230+13732T>C
c.7140T>C (p.Gly2380=)
c.7035T>C (p.Gly2345=)
c.7026T>C (p.Gly2342=)
c.6987T>C (p.Gly2329=)
c.6933T>C (p.Gly2311=)
c.6837T>C (p.Gly2279=)
c.6807T>C (p.Gly2269=)
c.6732T>C (p.Gly2244=)
c.6630T>C (p.Gly2210=)
c.6261T>C (p.Gly2087=)
dbSNP
5g.112842704T>GCA446210080APCc.7164T>G (p.Gly2388=)
c.*7116T>G (n.*7116T>G)
c.7056T>G (p.Gly2352=)
c.7110T>G (p.Gly2370=)
c.*6432T>G (n.*6432T>G)
c.230+13732T>G
c.7140T>G (p.Gly2380=)
c.7035T>G (p.Gly2345=)
c.7026T>G (p.Gly2342=)
c.6987T>G (p.Gly2329=)
c.6933T>G (p.Gly2311=)
c.6837T>G (p.Gly2279=)
c.6807T>G (p.Gly2269=)
c.6732T>G (p.Gly2244=)
c.6630T>G (p.Gly2210=)
c.6261T>G (p.Gly2087=)
ClinVar dbSNP
5g.112842704T=CA1573466857APCc.7164T= (p.Gly2388=)
c.*7116T= (n.*7116T=)
c.7056T= (p.Gly2352=)
c.7110T= (p.Gly2370=)
c.*6432T= (n.*6432T=)
c.230+13732T=
c.7140T= (p.Gly2380=)
c.7035T= (p.Gly2345=)
c.7026T= (p.Gly2342=)
c.6987T= (p.Gly2329=)
c.6933T= (p.Gly2311=)
c.6837T= (p.Gly2279=)
c.6807T= (p.Gly2269=)
c.6732T= (p.Gly2244=)
c.6630T= (p.Gly2210=)
c.6261T= (p.Gly2087=)
5g.112842705A>CCA446210081APCc.7165A>C (p.Arg2389=)
c.*7117A>C (n.*7117A>C)
c.7057A>C (p.Arg2353=)
c.7111A>C (p.Arg2371=)
c.*6433A>C (n.*6433A>C)
c.230+13733A>C
c.7141A>C (p.Arg2381=)
c.7036A>C (p.Arg2346=)
c.7027A>C (p.Arg2343=)
c.6988A>C (p.Arg2330=)
c.6934A>C (p.Arg2312=)
c.6838A>C (p.Arg2280=)
c.6808A>C (p.Arg2270=)
c.6733A>C (p.Arg2245=)
c.6631A>C (p.Arg2211=)
c.6262A>C (p.Arg2088=)
5g.112842705A>GCA16036814APCc.7165A>G (p.Arg2389Gly)
c.*7117A>G (n.*7117A>G)
c.7057A>G (p.Arg2353Gly)
c.7111A>G (p.Arg2371Gly)
c.*6433A>G (n.*6433A>G)
c.230+13733A>G
c.7141A>G (p.Arg2381Gly)
c.7036A>G (p.Arg2346Gly)
c.7027A>G (p.Arg2343Gly)
c.6988A>G (p.Arg2330Gly)
c.6934A>G (p.Arg2312Gly)
c.6838A>G (p.Arg2280Gly)
c.6808A>G (p.Arg2270Gly)
c.6733A>G (p.Arg2245Gly)
c.6631A>G (p.Arg2211Gly)
c.6262A>G (p.Arg2088Gly)
dbSNP
5g.112842705A>TCA16036815APCc.7165A>T (p.Arg2389Ter)
c.*7117A>T (n.*7117A>T)
c.7057A>T (p.Arg2353Ter)
c.7111A>T (p.Arg2371Ter)
c.*6433A>T (n.*6433A>T)
c.230+13733A>T
c.7141A>T (p.Arg2381Ter)
c.7036A>T (p.Arg2346Ter)
c.7027A>T (p.Arg2343Ter)
c.6988A>T (p.Arg2330Ter)
c.6934A>T (p.Arg2312Ter)
c.6838A>T (p.Arg2280Ter)
c.6808A>T (p.Arg2270Ter)
c.6733A>T (p.Arg2245Ter)
c.6631A>T (p.Arg2211Ter)
c.6262A>T (p.Arg2088Ter)
dbSNP
5g.112842708_112842711delCA2674868444APCc.7168_7171del (p.Gln2390Ter)
c.*7120_*7123del (n.*7120_*7123del)
c.7060_7063del (p.Gln2354Ter)
c.7114_7117del (p.Gln2372Ter)
c.*6436_*6439del (n.*6436_*6439del)
c.230+13736_230+13739del
c.7144_7147del (p.Gln2382Ter)
c.7039_7042del (p.Gln2347Ter)
c.7030_7033del (p.Gln2344Ter)
c.6991_6994del (p.Gln2331Ter)
c.6937_6940del (p.Gln2313Ter)
c.6841_6844del (p.Gln2281Ter)
c.6811_6814del (p.Gln2271Ter)
c.6736_6739del (p.Gln2246Ter)
c.6634_6637del (p.Gln2212Ter)
c.6265_6268del (p.Gln2089Ter)
gnomAD v4
5g.112842705_112842714delCA2565362433APCc.7165_7174del (p.Arg2389AlafsTer28)
c.*7117_*7126del (n.*7117_*7126del)
c.7057_7066del (p.Arg2353AlafsTer28)
c.7111_7120del (p.Arg2371AlafsTer28)
c.*6433_*6442del (n.*6433_*6442del)
c.230+13733_230+13742del
c.7141_7150del (p.Arg2381AlafsTer28)
c.7036_7045del (p.Arg2346AlafsTer28)
c.7027_7036del (p.Arg2343AlafsTer28)
c.6988_6997del (p.Arg2330AlafsTer28)
c.6934_6943del (p.Arg2312AlafsTer28)
c.6838_6847del (p.Arg2280AlafsTer28)
c.6808_6817del (p.Arg2270AlafsTer28)
c.6733_6742del (p.Arg2245AlafsTer28)
c.6631_6640del (p.Arg2211AlafsTer28)
c.6262_6271del (p.Arg2088AlafsTer28)
5g.112842706G>ACA16036816APCc.7166G>A (p.Arg2389Lys)
c.*7118G>A (n.*7118G>A)
c.7058G>A (p.Arg2353Lys)
c.7112G>A (p.Arg2371Lys)
c.*6434G>A (n.*6434G>A)
c.230+13734G>A
c.7142G>A (p.Arg2381Lys)
c.7037G>A (p.Arg2346Lys)
c.7028G>A (p.Arg2343Lys)
c.6989G>A (p.Arg2330Lys)
c.6935G>A (p.Arg2312Lys)
c.6839G>A (p.Arg2280Lys)
c.6809G>A (p.Arg2270Lys)
c.6734G>A (p.Arg2245Lys)
c.6632G>A (p.Arg2211Lys)
c.6263G>A (p.Arg2088Lys)
ClinVar dbSNP
5g.112842706G>CCA16036817APCc.7166G>C (p.Arg2389Thr)
c.*7118G>C (n.*7118G>C)
c.7058G>C (p.Arg2353Thr)
c.7112G>C (p.Arg2371Thr)
c.*6434G>C (n.*6434G>C)
c.230+13734G>C
c.7142G>C (p.Arg2381Thr)
c.7037G>C (p.Arg2346Thr)
c.7028G>C (p.Arg2343Thr)
c.6989G>C (p.Arg2330Thr)
c.6935G>C (p.Arg2312Thr)
c.6839G>C (p.Arg2280Thr)
c.6809G>C (p.Arg2270Thr)
c.6734G>C (p.Arg2245Thr)
c.6632G>C (p.Arg2211Thr)
c.6263G>C (p.Arg2088Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842706G=CA1573466867APCc.7166G= (p.Arg2389=)
c.*7118G= (n.*7118G=)
c.7058G= (p.Arg2353=)
c.7112G= (p.Arg2371=)
c.*6434G= (n.*6434G=)
c.230+13734G=
c.7142G= (p.Arg2381=)
c.7037G= (p.Arg2346=)
c.7028G= (p.Arg2343=)
c.6989G= (p.Arg2330=)
c.6935G= (p.Arg2312=)
c.6839G= (p.Arg2280=)
c.6809G= (p.Arg2270=)
c.6734G= (p.Arg2245=)
c.6632G= (p.Arg2211=)
c.6263G= (p.Arg2088=)
5g.112842706G>TCA16036818APCc.7166G>T (p.Arg2389Ile)
c.*7118G>T (n.*7118G>T)
c.7058G>T (p.Arg2353Ile)
c.7112G>T (p.Arg2371Ile)
c.*6434G>T (n.*6434G>T)
c.230+13734G>T
c.7142G>T (p.Arg2381Ile)
c.7037G>T (p.Arg2346Ile)
c.7028G>T (p.Arg2343Ile)
c.6989G>T (p.Arg2330Ile)
c.6935G>T (p.Arg2312Ile)
c.6839G>T (p.Arg2280Ile)
c.6809G>T (p.Arg2270Ile)
c.6734G>T (p.Arg2245Ile)
c.6632G>T (p.Arg2211Ile)
c.6263G>T (p.Arg2088Ile)
5g.112842707A>CCA16036819APCc.7167A>C (p.Arg2389Ser)
c.*7119A>C (n.*7119A>C)
c.7059A>C (p.Arg2353Ser)
c.7113A>C (p.Arg2371Ser)
c.*6435A>C (n.*6435A>C)
c.230+13735A>C
c.7143A>C (p.Arg2381Ser)
c.7038A>C (p.Arg2346Ser)
c.7029A>C (p.Arg2343Ser)
c.6990A>C (p.Arg2330Ser)
c.6936A>C (p.Arg2312Ser)
c.6840A>C (p.Arg2280Ser)
c.6810A>C (p.Arg2270Ser)
c.6735A>C (p.Arg2245Ser)
c.6633A>C (p.Arg2211Ser)
c.6264A>C (p.Arg2088Ser)
dbSNP gnomAD v4
5g.112842707A>GCA446210087APCc.7167A>G (p.Arg2389=)
c.*7119A>G (n.*7119A>G)
c.7059A>G (p.Arg2353=)
c.7113A>G (p.Arg2371=)
c.*6435A>G (n.*6435A>G)
c.230+13735A>G
c.7143A>G (p.Arg2381=)
c.7038A>G (p.Arg2346=)
c.7029A>G (p.Arg2343=)
c.6990A>G (p.Arg2330=)
c.6936A>G (p.Arg2312=)
c.6840A>G (p.Arg2280=)
c.6810A>G (p.Arg2270=)
c.6735A>G (p.Arg2245=)
c.6633A>G (p.Arg2211=)
c.6264A>G (p.Arg2088=)
ClinVar dbSNP
5g.112842707A>TCA16036820APCc.7167A>T (p.Arg2389Ser)
c.*7119A>T (n.*7119A>T)
c.7059A>T (p.Arg2353Ser)
c.7113A>T (p.Arg2371Ser)
c.*6435A>T (n.*6435A>T)
c.230+13735A>T
c.7143A>T (p.Arg2381Ser)
c.7038A>T (p.Arg2346Ser)
c.7029A>T (p.Arg2343Ser)
c.6990A>T (p.Arg2330Ser)
c.6936A>T (p.Arg2312Ser)
c.6840A>T (p.Arg2280Ser)
c.6810A>T (p.Arg2270Ser)
c.6735A>T (p.Arg2245Ser)
c.6633A>T (p.Arg2211Ser)
c.6264A>T (p.Arg2088Ser)
dbSNP
5g.112842708C>ACA16036821APCc.7168C>A (p.Gln2390Lys)
c.*7120C>A (n.*7120C>A)
c.7060C>A (p.Gln2354Lys)
c.7114C>A (p.Gln2372Lys)
c.*6436C>A (n.*6436C>A)
c.230+13736C>A
c.7144C>A (p.Gln2382Lys)
c.7039C>A (p.Gln2347Lys)
c.7030C>A (p.Gln2344Lys)
c.6991C>A (p.Gln2331Lys)
c.6937C>A (p.Gln2313Lys)
c.6841C>A (p.Gln2281Lys)
c.6811C>A (p.Gln2271Lys)
c.6736C>A (p.Gln2246Lys)
c.6634C>A (p.Gln2212Lys)
c.6265C>A (p.Gln2089Lys)
dbSNP
5g.112842708C=CA1573466886APCc.7168C= (p.Gln2390=)
c.*7120C= (n.*7120C=)
c.7060C= (p.Gln2354=)
c.7114C= (p.Gln2372=)
c.*6436C= (n.*6436C=)
c.230+13736C=
c.7144C= (p.Gln2382=)
c.7039C= (p.Gln2347=)
c.7030C= (p.Gln2344=)
c.6991C= (p.Gln2331=)
c.6937C= (p.Gln2313=)
c.6841C= (p.Gln2281=)
c.6811C= (p.Gln2271=)
c.6736C= (p.Gln2246=)
c.6634C= (p.Gln2212=)
c.6265C= (p.Gln2089=)
5g.112842708C>GCA16036822APCc.7168C>G (p.Gln2390Glu)
c.*7120C>G (n.*7120C>G)
c.7060C>G (p.Gln2354Glu)
c.7114C>G (p.Gln2372Glu)
c.*6436C>G (n.*6436C>G)
c.230+13736C>G
c.7144C>G (p.Gln2382Glu)
c.7039C>G (p.Gln2347Glu)
c.7030C>G (p.Gln2344Glu)
c.6991C>G (p.Gln2331Glu)
c.6937C>G (p.Gln2313Glu)
c.6841C>G (p.Gln2281Glu)
c.6811C>G (p.Gln2271Glu)
c.6736C>G (p.Gln2246Glu)
c.6634C>G (p.Gln2212Glu)
c.6265C>G (p.Gln2089Glu)
ClinVar dbSNP
5g.112842708C>TCA16036823APCc.7168C>T (p.Gln2390Ter)
c.*7120C>T (n.*7120C>T)
c.7060C>T (p.Gln2354Ter)
c.7114C>T (p.Gln2372Ter)
c.*6436C>T (n.*6436C>T)
c.230+13736C>T
c.7144C>T (p.Gln2382Ter)
c.7039C>T (p.Gln2347Ter)
c.7030C>T (p.Gln2344Ter)
c.6991C>T (p.Gln2331Ter)
c.6937C>T (p.Gln2313Ter)
c.6841C>T (p.Gln2281Ter)
c.6811C>T (p.Gln2271Ter)
c.6736C>T (p.Gln2246Ter)
c.6634C>T (p.Gln2212Ter)
c.6265C>T (p.Gln2089Ter)
ClinVar dbSNP
5g.112842709A=CA1573466927APCc.7169A= (p.Gln2390=)
c.*7121A= (n.*7121A=)
c.7061A= (p.Gln2354=)
c.7115A= (p.Gln2372=)
c.*6437A= (n.*6437A=)
c.230+13737A=
c.7145A= (p.Gln2382=)
c.7040A= (p.Gln2347=)
c.7031A= (p.Gln2344=)
c.6992A= (p.Gln2331=)
c.6938A= (p.Gln2313=)
c.6842A= (p.Gln2281=)
c.6812A= (p.Gln2271=)
c.6737A= (p.Gln2246=)
c.6635A= (p.Gln2212=)
c.6266A= (p.Gln2089=)
5g.112842709A>CCA16036824APCc.7169A>C (p.Gln2390Pro)
c.*7121A>C (n.*7121A>C)
c.7061A>C (p.Gln2354Pro)
c.7115A>C (p.Gln2372Pro)
c.*6437A>C (n.*6437A>C)
c.230+13737A>C
c.7145A>C (p.Gln2382Pro)
c.7040A>C (p.Gln2347Pro)
c.7031A>C (p.Gln2344Pro)
c.6992A>C (p.Gln2331Pro)
c.6938A>C (p.Gln2313Pro)
c.6842A>C (p.Gln2281Pro)
c.6812A>C (p.Gln2271Pro)
c.6737A>C (p.Gln2246Pro)
c.6635A>C (p.Gln2212Pro)
c.6266A>C (p.Gln2089Pro)
COSMIC
5g.112842709A>GCA16036825APCc.7169A>G (p.Gln2390Arg)
c.*7121A>G (n.*7121A>G)
c.7061A>G (p.Gln2354Arg)
c.7115A>G (p.Gln2372Arg)
c.*6437A>G (n.*6437A>G)
c.230+13737A>G
c.7145A>G (p.Gln2382Arg)
c.7040A>G (p.Gln2347Arg)
c.7031A>G (p.Gln2344Arg)
c.6992A>G (p.Gln2331Arg)
c.6938A>G (p.Gln2313Arg)
c.6842A>G (p.Gln2281Arg)
c.6812A>G (p.Gln2271Arg)
c.6737A>G (p.Gln2246Arg)
c.6635A>G (p.Gln2212Arg)
c.6266A>G (p.Gln2089Arg)
ClinVar dbSNP
5g.112842709A>TCA16036826APCc.7169A>T (p.Gln2390Leu)
c.*7121A>T (n.*7121A>T)
c.7061A>T (p.Gln2354Leu)
c.7115A>T (p.Gln2372Leu)
c.*6437A>T (n.*6437A>T)
c.230+13737A>T
c.7145A>T (p.Gln2382Leu)
c.7040A>T (p.Gln2347Leu)
c.7031A>T (p.Gln2344Leu)
c.6992A>T (p.Gln2331Leu)
c.6938A>T (p.Gln2313Leu)
c.6842A>T (p.Gln2281Leu)
c.6812A>T (p.Gln2271Leu)
c.6737A>T (p.Gln2246Leu)
c.6635A>T (p.Gln2212Leu)
c.6266A>T (p.Gln2089Leu)
dbSNP
5g.112842710G>ACA446210090APCc.7170G>A (p.Gln2390=)
c.*7122G>A (n.*7122G>A)
c.7062G>A (p.Gln2354=)
c.7116G>A (p.Gln2372=)
c.*6438G>A (n.*6438G>A)
c.230+13738G>A
c.7146G>A (p.Gln2382=)
c.7041G>A (p.Gln2347=)
c.7032G>A (p.Gln2344=)
c.6993G>A (p.Gln2331=)
c.6939G>A (p.Gln2313=)
c.6843G>A (p.Gln2281=)
c.6813G>A (p.Gln2271=)
c.6738G>A (p.Gln2246=)
c.6636G>A (p.Gln2212=)
c.6267G>A (p.Gln2089=)
dbSNP gnomAD v2 gnomAD v4
5g.112842710G>CCA16036827APCc.7170G>C (p.Gln2390His)
c.*7122G>C (n.*7122G>C)
c.7062G>C (p.Gln2354His)
c.7116G>C (p.Gln2372His)
c.*6438G>C (n.*6438G>C)
c.230+13738G>C
c.7146G>C (p.Gln2382His)
c.7041G>C (p.Gln2347His)
c.7032G>C (p.Gln2344His)
c.6993G>C (p.Gln2331His)
c.6939G>C (p.Gln2313His)
c.6843G>C (p.Gln2281His)
c.6813G>C (p.Gln2271His)
c.6738G>C (p.Gln2246His)
c.6636G>C (p.Gln2212His)
c.6267G>C (p.Gln2089His)
dbSNP
5g.112842710G=CA1573466940APCc.7170G= (p.Gln2390=)
c.*7122G= (n.*7122G=)
c.7062G= (p.Gln2354=)
c.7116G= (p.Gln2372=)
c.*6438G= (n.*6438G=)
c.230+13738G=
c.7146G= (p.Gln2382=)
c.7041G= (p.Gln2347=)
c.7032G= (p.Gln2344=)
c.6993G= (p.Gln2331=)
c.6939G= (p.Gln2313=)
c.6843G= (p.Gln2281=)
c.6813G= (p.Gln2271=)
c.6738G= (p.Gln2246=)
c.6636G= (p.Gln2212=)
c.6267G= (p.Gln2089=)
5g.112842710G>TCA16036828APCc.7170G>T (p.Gln2390His)
c.*7122G>T (n.*7122G>T)
c.7062G>T (p.Gln2354His)
c.7116G>T (p.Gln2372His)
c.*6438G>T (n.*6438G>T)
c.230+13738G>T
c.7146G>T (p.Gln2382His)
c.7041G>T (p.Gln2347His)
c.7032G>T (p.Gln2344His)
c.6993G>T (p.Gln2331His)
c.6939G>T (p.Gln2313His)
c.6843G>T (p.Gln2281His)
c.6813G>T (p.Gln2271His)
c.6738G>T (p.Gln2246His)
c.6636G>T (p.Gln2212His)
c.6267G>T (p.Gln2089His)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112842711A=CA1573466954APCc.7171A= (p.Met2391=)
c.*7123A= (n.*7123A=)
c.7063A= (p.Met2355=)
c.7117A= (p.Met2373=)
c.*6439A= (n.*6439A=)
c.230+13739A=
c.7147A= (p.Met2383=)
c.7042A= (p.Met2348=)
c.7033A= (p.Met2345=)
c.6994A= (p.Met2332=)
c.6940A= (p.Met2314=)
c.6844A= (p.Met2282=)
c.6814A= (p.Met2272=)
c.6739A= (p.Met2247=)
c.6637A= (p.Met2213=)
c.6268A= (p.Met2090=)
5g.112842711A>CCA16036829APCc.7171A>C (p.Met2391Leu)
c.*7123A>C (n.*7123A>C)
c.7063A>C (p.Met2355Leu)
c.7117A>C (p.Met2373Leu)
c.*6439A>C (n.*6439A>C)
c.230+13739A>C
c.7147A>C (p.Met2383Leu)
c.7042A>C (p.Met2348Leu)
c.7033A>C (p.Met2345Leu)
c.6994A>C (p.Met2332Leu)
c.6940A>C (p.Met2314Leu)
c.6844A>C (p.Met2282Leu)
c.6814A>C (p.Met2272Leu)
c.6739A>C (p.Met2247Leu)
c.6637A>C (p.Met2213Leu)
c.6268A>C (p.Met2090Leu)
dbSNP
5g.112842711A>GCA10584263APCc.7171A>G (p.Met2391Val)
c.*7123A>G (n.*7123A>G)
c.7063A>G (p.Met2355Val)
c.7117A>G (p.Met2373Val)
c.*6439A>G (n.*6439A>G)
c.230+13739A>G
c.7147A>G (p.Met2383Val)
c.7042A>G (p.Met2348Val)
c.7033A>G (p.Met2345Val)
c.6994A>G (p.Met2332Val)
c.6940A>G (p.Met2314Val)
c.6844A>G (p.Met2282Val)
c.6814A>G (p.Met2272Val)
c.6739A>G (p.Met2247Val)
c.6637A>G (p.Met2213Val)
c.6268A>G (p.Met2090Val)
ClinVar dbSNP gnomAD v4
5g.112842711A>TCA16036830APCc.7171A>T (p.Met2391Leu)
c.*7123A>T (n.*7123A>T)
c.7063A>T (p.Met2355Leu)
c.7117A>T (p.Met2373Leu)
c.*6439A>T (n.*6439A>T)
c.230+13739A>T
c.7147A>T (p.Met2383Leu)
c.7042A>T (p.Met2348Leu)
c.7033A>T (p.Met2345Leu)
c.6994A>T (p.Met2332Leu)
c.6940A>T (p.Met2314Leu)
c.6844A>T (p.Met2282Leu)
c.6814A>T (p.Met2272Leu)
c.6739A>T (p.Met2247Leu)
c.6637A>T (p.Met2213Leu)
c.6268A>T (p.Met2090Leu)
dbSNP
5g.112842712T>ACA16036831APCc.7172T>A (p.Met2391Lys)
c.*7124T>A (n.*7124T>A)
c.7064T>A (p.Met2355Lys)
c.7118T>A (p.Met2373Lys)
c.*6440T>A (n.*6440T>A)
c.230+13740T>A
c.7148T>A (p.Met2383Lys)
c.7043T>A (p.Met2348Lys)
c.7034T>A (p.Met2345Lys)
c.6995T>A (p.Met2332Lys)
c.6941T>A (p.Met2314Lys)
c.6845T>A (p.Met2282Lys)
c.6815T>A (p.Met2272Lys)
c.6740T>A (p.Met2247Lys)
c.6638T>A (p.Met2213Lys)
c.6269T>A (p.Met2090Lys)
ClinVar dbSNP
5g.112842712T>CCA16036832APCc.7172T>C (p.Met2391Thr)
c.*7124T>C (n.*7124T>C)
c.7064T>C (p.Met2355Thr)
c.7118T>C (p.Met2373Thr)
c.*6440T>C (n.*6440T>C)
c.230+13740T>C
c.7148T>C (p.Met2383Thr)
c.7043T>C (p.Met2348Thr)
c.7034T>C (p.Met2345Thr)
c.6995T>C (p.Met2332Thr)
c.6941T>C (p.Met2314Thr)
c.6845T>C (p.Met2282Thr)
c.6815T>C (p.Met2272Thr)
c.6740T>C (p.Met2247Thr)
c.6638T>C (p.Met2213Thr)
c.6269T>C (p.Met2090Thr)
dbSNP
5g.112842712T>GCA16036833APCc.7172T>G (p.Met2391Arg)
c.*7124T>G (n.*7124T>G)
c.7064T>G (p.Met2355Arg)
c.7118T>G (p.Met2373Arg)
c.*6440T>G (n.*6440T>G)
c.230+13740T>G
c.7148T>G (p.Met2383Arg)
c.7043T>G (p.Met2348Arg)
c.7034T>G (p.Met2345Arg)
c.6995T>G (p.Met2332Arg)
c.6941T>G (p.Met2314Arg)
c.6845T>G (p.Met2282Arg)
c.6815T>G (p.Met2272Arg)
c.6740T>G (p.Met2247Arg)
c.6638T>G (p.Met2213Arg)
c.6269T>G (p.Met2090Arg)
ClinVar dbSNP
5g.112842712T=CA1573466974APCc.7172T= (p.Met2391=)
c.*7124T= (n.*7124T=)
c.7064T= (p.Met2355=)
c.7118T= (p.Met2373=)
c.*6440T= (n.*6440T=)
c.230+13740T=
c.7148T= (p.Met2383=)
c.7043T= (p.Met2348=)
c.7034T= (p.Met2345=)
c.6995T= (p.Met2332=)
c.6941T= (p.Met2314=)
c.6845T= (p.Met2282=)
c.6815T= (p.Met2272=)
c.6740T= (p.Met2247=)
c.6638T= (p.Met2213=)
c.6269T= (p.Met2090=)
5g.112842713G>ACA16036834APCc.7173G>A (p.Met2391Ile)
c.*7125G>A (n.*7125G>A)
c.7065G>A (p.Met2355Ile)
c.7119G>A (p.Met2373Ile)
c.*6441G>A (n.*6441G>A)
c.230+13741G>A
c.7149G>A (p.Met2383Ile)
c.7044G>A (p.Met2348Ile)
c.7035G>A (p.Met2345Ile)
c.6996G>A (p.Met2332Ile)
c.6942G>A (p.Met2314Ile)
c.6846G>A (p.Met2282Ile)
c.6816G>A (p.Met2272Ile)
c.6741G>A (p.Met2247Ile)
c.6639G>A (p.Met2213Ile)
c.6270G>A (p.Met2090Ile)
ClinVar dbSNP
5g.112842713G>CCA16036835APCc.7173G>C (p.Met2391Ile)
c.*7125G>C (n.*7125G>C)
c.7065G>C (p.Met2355Ile)
c.7119G>C (p.Met2373Ile)
c.*6441G>C (n.*6441G>C)
c.230+13741G>C
c.7149G>C (p.Met2383Ile)
c.7044G>C (p.Met2348Ile)
c.7035G>C (p.Met2345Ile)
c.6996G>C (p.Met2332Ile)
c.6942G>C (p.Met2314Ile)
c.6846G>C (p.Met2282Ile)
c.6816G>C (p.Met2272Ile)
c.6741G>C (p.Met2247Ile)
c.6639G>C (p.Met2213Ile)
c.6270G>C (p.Met2090Ile)
dbSNP
5g.112842713G>TCA16036836APCc.7173G>T (p.Met2391Ile)
c.*7125G>T (n.*7125G>T)
c.7065G>T (p.Met2355Ile)
c.7119G>T (p.Met2373Ile)
c.*6441G>T (n.*6441G>T)
c.230+13741G>T
c.7149G>T (p.Met2383Ile)
c.7044G>T (p.Met2348Ile)
c.7035G>T (p.Met2345Ile)
c.6996G>T (p.Met2332Ile)
c.6942G>T (p.Met2314Ile)
c.6846G>T (p.Met2282Ile)
c.6816G>T (p.Met2272Ile)
c.6741G>T (p.Met2247Ile)
c.6639G>T (p.Met2213Ile)
c.6270G>T (p.Met2090Ile)
dbSNP

Number of alleles fetched