Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50625346C>ACA515391041ARSAc.1329G>T (p.Leu443=)
c.1071G>T (p.Leu357=)
c.180+17G>T
c.*62G>T (n.*62G>T)
c.1443G>T (p.Leu481=)
ClinVar dbSNP
22g.50625346C=CA2410958432ARSAc.1329G= (p.Leu443=)
c.1071G= (p.Leu357=)
c.180+17G=
c.*62G= (n.*62G=)
c.1443G= (p.Leu481=)
22g.50625346C>GCA515391042ARSAc.1329G>C (p.Leu443=)
c.1071G>C (p.Leu357=)
c.180+17G>C
c.*62G>C (n.*62G>C)
c.1443G>C (p.Leu481=)
22g.50625346C>TCA10324746ARSAc.1329G>A (p.Leu443=)
c.1071G>A (p.Leu357=)
c.180+17G>A
c.*62G>A (n.*62G>A)
c.1443G>A (p.Leu481=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.50625347A=CA2410958433ARSAc.1328T= (p.Leu443=)
c.1070T= (p.Leu357=)
c.180+16T=
c.*61T= (n.*61T=)
c.1442T= (p.Leu481=)
22g.50625347A>CCA412168500ARSAc.1328T>G (p.Leu443Arg)
c.1070T>G (p.Leu357Arg)
c.180+16T>G
c.*61T>G (n.*61T>G)
c.1442T>G (p.Leu481Arg)
22g.50625347A>GCA412168503ARSAc.1328T>C (p.Leu443Pro)
c.1070T>C (p.Leu357Pro)
c.180+16T>C
c.*61T>C (n.*61T>C)
c.1442T>C (p.Leu481Pro)
dbSNP gnomAD v2
22g.50625347A>TCA412168507ARSAc.1328T>A (p.Leu443Gln)
c.1070T>A (p.Leu357Gln)
c.180+16T>A
c.*61T>A (n.*61T>A)
c.1442T>A (p.Leu481Gln)
22g.50625348G>ACA515391045ARSAc.1327C>T (p.Leu443=)
c.1069C>T (p.Leu357=)
c.180+15C>T
c.*60C>T (n.*60C>T)
c.1441C>T (p.Leu481=)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50625348G>CCA412168513ARSAc.1327C>G (p.Leu443Val)
c.1069C>G (p.Leu357Val)
c.180+15C>G
c.*60C>G (n.*60C>G)
c.1441C>G (p.Leu481Val)
22g.50625348G=CA2410958434ARSAc.1327C= (p.Leu443=)
c.1069C= (p.Leu357=)
c.180+15C=
c.*60C= (n.*60C=)
c.1441C= (p.Leu481=)
22g.50625348G>TCA412168518ARSAc.1327C>A (p.Leu443Met)
c.1069C>A (p.Leu357Met)
c.180+15C>A
c.*60C>A (n.*60C>A)
c.1441C>A (p.Leu481Met)
22g.50625349G>ACA515391048ARSAc.1326C>T (p.Asn442=)
c.1068C>T (p.Asn356=)
c.180+14C>T
c.*59C>T (n.*59C>T)
c.1440C>T (p.Asn480=)
22g.50625349G>CCA412168532ARSAc.1326C>G (p.Asn442Lys)
c.1068C>G (p.Asn356Lys)
c.180+14C>G
c.*59C>G (n.*59C>G)
c.1440C>G (p.Asn480Lys)
22g.50625349G>TCA412168544ARSAc.1326C>A (p.Asn442Lys)
c.1068C>A (p.Asn356Lys)
c.180+14C>A
c.*59C>A (n.*59C>A)
c.1440C>A (p.Asn480Lys)
22g.50625350T>ACA412168553ARSAc.1325A>T (p.Asn442Ile)
c.1067A>T (p.Asn356Ile)
c.180+13A>T
c.*58A>T (n.*58A>T)
c.1439A>T (p.Asn480Ile)
22g.50625350T>CCA10324747ARSAc.1325A>G (p.Asn442Ser)
c.1067A>G (p.Asn356Ser)
c.180+13A>G
c.*58A>G (n.*58A>G)
c.1439A>G (p.Asn480Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50625350T>GCA412168549ARSAc.1325A>C (p.Asn442Thr)
c.1067A>C (p.Asn356Thr)
c.180+13A>C
c.*58A>C (n.*58A>C)
c.1439A>C (p.Asn480Thr)
22g.50625350T=CA2410958435ARSAc.1325A= (p.Asn442=)
c.1067A= (p.Asn356=)
c.180+13A=
c.*58A= (n.*58A=)
c.1439A= (p.Asn480=)
22g.50625351T>ACA412168561ARSAc.1324A>T (p.Asn442Tyr)
c.1066A>T (p.Asn356Tyr)
c.180+12A>T
c.*57A>T (n.*57A>T)
c.1438A>T (p.Asn480Tyr)
gnomAD v4
22g.50625351T>CCA412168566ARSAc.1324A>G (p.Asn442Asp)
c.1066A>G (p.Asn356Asp)
c.180+12A>G
c.*57A>G (n.*57A>G)
c.1438A>G (p.Asn480Asp)
22g.50625351T>GCA412168569ARSAc.1324A>C (p.Asn442His)
c.1066A>C (p.Asn356His)
c.180+12A>C
c.*57A>C (n.*57A>C)
c.1438A>C (p.Asn480His)
22g.50625351_50625352delinsTGCA2410958436ARSAc.1323_1324delinsCA (p.Tyr441=)
c.1065_1066delinsCA (p.Tyr355=)
c.180+11_180+12delinsCA
c.*56_*57delinsCA (n.*56_*57delinsCA)
c.1437_1438delinsCA (p.Tyr479=)
22g.50625352_50625353delCA913088701ARSAc.1323_1324del (p.Tyr441Ter)
c.1065_1066del (p.Tyr355Ter)
c.180+11_180+12del
c.*56_*57del (n.*56_*57del)
c.1437_1438del (p.Tyr479Ter)
22g.50625352delCA658824682ARSAc.1323del (p.Tyr441Ter)
c.1065del (p.Tyr355Ter)
c.180+11del
c.*56del (n.*56del)
c.1437del (p.Tyr479Ter)
ClinVar dbSNP
22g.50625352G>ACA515391057ARSAc.1323C>T (p.Tyr441=)
c.1065C>T (p.Tyr355=)
c.180+11C>T
c.*56C>T (n.*56C>T)
c.1437C>T (p.Tyr479=)
22g.50625352G>CCA412168576ARSAc.1323C>G (p.Tyr441Ter)
c.1065C>G (p.Tyr355Ter)
c.180+11C>G
c.*56C>G (n.*56C>G)
c.1437C>G (p.Tyr479Ter)
22g.50625352G>TCA412168579ARSAc.1323C>A (p.Tyr441Ter)
c.1065C>A (p.Tyr355Ter)
c.180+11C>A
c.*56C>A (n.*56C>A)
c.1437C>A (p.Tyr479Ter)
22g.50625353T>ACA412168590ARSAc.1322A>T (p.Tyr441Phe)
c.1064A>T (p.Tyr355Phe)
c.180+10A>T
c.*55A>T (n.*55A>T)
c.1436A>T (p.Tyr479Phe)
22g.50625353T>CCA412168585ARSAc.1322A>G (p.Tyr441Cys)
c.1064A>G (p.Tyr355Cys)
c.180+10A>G
c.*55A>G (n.*55A>G)
c.1436A>G (p.Tyr479Cys)
22g.50625353T>GCA412168587ARSAc.1322A>C (p.Tyr441Ser)
c.1064A>C (p.Tyr355Ser)
c.180+10A>C
c.*55A>C (n.*55A>C)
c.1436A>C (p.Tyr479Ser)
22g.50625354A=CA2410958437ARSAc.1321T= (p.Tyr441=)
c.1063T= (p.Tyr355=)
c.180+9T=
c.*54T= (n.*54T=)
c.1435T= (p.Tyr479=)
22g.50625354A>CCA412168597ARSAc.1321T>G (p.Tyr441Asp)
c.1063T>G (p.Tyr355Asp)
c.180+9T>G
c.*54T>G (n.*54T>G)
c.1435T>G (p.Tyr479Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50625354A>GCA412168600ARSAc.1321T>C (p.Tyr441His)
c.1063T>C (p.Tyr355His)
c.180+9T>C
c.*54T>C (n.*54T>C)
c.1435T>C (p.Tyr479His)
22g.50625354A>TCA412168603ARSAc.1321T>A (p.Tyr441Asn)
c.1063T>A (p.Tyr355Asn)
c.180+9T>A
c.*54T>A (n.*54T>A)
c.1435T>A (p.Tyr479Asn)
22g.50625355G>ACA515391063ARSAc.1320C>T (p.Asn440=)
c.1062C>T (p.Asn354=)
c.180+8C>T
c.*53C>T (n.*53C>T)
c.1434C>T (p.Asn478=)
22g.50625355G>CCA412168608ARSAc.1320C>G (p.Asn440Lys)
c.1062C>G (p.Asn354Lys)
c.180+8C>G
c.*53C>G (n.*53C>G)
c.1434C>G (p.Asn478Lys)
dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.50625355G=CA2410958438ARSAc.1320C= (p.Asn440=)
c.1062C= (p.Asn354=)
c.180+8C=
c.*53C= (n.*53C=)
c.1434C= (p.Asn478=)
22g.50625355G>TCA412168613ARSAc.1320C>A (p.Asn440Lys)
c.1062C>A (p.Asn354Lys)
c.180+8C>A
c.*53C>A (n.*53C>A)
c.1434C>A (p.Asn478Lys)
22g.50625356T>ACA412168617ARSAc.1319A>T (p.Asn440Ile)
c.1061A>T (p.Asn354Ile)
c.180+7A>T
c.*52A>T (n.*52A>T)
c.1433A>T (p.Asn478Ile)
22g.50625356T>CCA412168622ARSAc.1319A>G (p.Asn440Ser)
c.1061A>G (p.Asn354Ser)
c.180+7A>G
c.*52A>G (n.*52A>G)
c.1433A>G (p.Asn478Ser)
22g.50625356T>GCA412168621ARSAc.1319A>C (p.Asn440Thr)
c.1061A>C (p.Asn354Thr)
c.180+7A>C
c.*52A>C (n.*52A>C)
c.1433A>C (p.Asn478Thr)
22g.50625357T>ACA412168626ARSAc.1318A>T (p.Asn440Tyr)
c.1060A>T (p.Asn354Tyr)
c.180+6A>T
c.*51A>T (n.*51A>T)
c.1432A>T (p.Asn478Tyr)
22g.50625357T>CCA412168633ARSAc.1318A>G (p.Asn440Asp)
c.1060A>G (p.Asn354Asp)
c.180+6A>G
c.*51A>G (n.*51A>G)
c.1432A>G (p.Asn478Asp)
22g.50625357T>GCA412168630ARSAc.1318A>C (p.Asn440His)
c.1060A>C (p.Asn354His)
c.180+6A>C
c.*51A>C (n.*51A>C)
c.1432A>C (p.Asn478His)
22g.50625358C>ACA412168634ARSAc.1317G>T (p.Glu439Asp)
c.1059G>T (p.Glu353Asp)
c.180+5G>T
c.*50G>T (n.*50G>T)
c.1431G>T (p.Glu477Asp)
22g.50625358C>GCA412168635ARSAc.1317G>C (p.Glu439Asp)
c.1059G>C (p.Glu353Asp)
c.180+5G>C
c.*50G>C (n.*50G>C)
c.1431G>C (p.Glu477Asp)
22g.50625358C>TCA515391076ARSAc.1317G>A (p.Glu439=)
c.1059G>A (p.Glu353=)
c.180+5G>A
c.*50G>A (n.*50G>A)
c.1431G>A (p.Glu477=)
ClinVar dbSNP
22g.50625359T>ACA412168636ARSAc.1316A>T (p.Glu439Val)
c.1058A>T (p.Glu353Val)
c.180+4A>T
c.*49A>T (n.*49A>T)
c.1430A>T (p.Glu477Val)
22g.50625359T>CCA412168638ARSAc.1316A>G (p.Glu439Gly)
c.1058A>G (p.Glu353Gly)
c.180+4A>G
c.*49A>G (n.*49A>G)
c.1430A>G (p.Glu477Gly)

Number of alleles fetched