Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51789303_51789304delCA2739272036SCN8Ac.4304_4305del (p.Glu1435GlyfsTer30)
c.2368_2369del
c.4181_4182del (p.Glu1394GlyfsTer30)
c.4337_4338del (p.Glu1446GlyfsTer30)
 ClinVar
12g.51789303A=CA2036172195SCN8Ac.4304A= (p.Glu1435=)
c.2368A=
c.4181A= (p.Glu1394=)
c.4337A= (p.Glu1446=)
12g.51789303A>CCA384908055SCN8Ac.4304A>C (p.Glu1435Ala)
c.2368A>C
c.4181A>C (p.Glu1394Ala)
c.4337A>C (p.Glu1446Ala)
 ClinVar dbSNP
12g.51789303A>GCA384908057SCN8Ac.4304A>G (p.Glu1435Gly)
c.2368A>G
c.4181A>G (p.Glu1394Gly)
c.4337A>G (p.Glu1446Gly)
12g.51789303A>TCA384908060SCN8Ac.4304A>T (p.Glu1435Val)
c.2368A>T
c.4181A>T (p.Glu1394Val)
c.4337A>T (p.Glu1446Val)
12g.51789304G>ACA479794923SCN8Ac.4305G>A (p.Glu1435=)
c.2369G>A
c.4182G>A (p.Glu1394=)
c.4338G>A (p.Glu1446=)
 ClinVar dbSNP
12g.51789304G>CCA384908064SCN8Ac.4305G>C (p.Glu1435Asp)
c.2369G>C
c.4182G>C (p.Glu1394Asp)
c.4338G>C (p.Glu1446Asp)
12g.51789304G=CA2036172201SCN8Ac.4305G= (p.Glu1435=)
c.2369G=
c.4182G= (p.Glu1394=)
c.4338G= (p.Glu1446=)
12g.51789304G>TCA384908065SCN8Ac.4305G>T (p.Glu1435Asp)
c.2369G>T
c.4182G>T (p.Glu1394Asp)
c.4338G>T (p.Glu1446Asp)
12g.51789305G>ACA384908069SCN8Ac.4306G>A (p.Asp1436Asn)
c.2370G>A
c.4183G>A (p.Asp1395Asn)
c.4339G>A (p.Asp1447Asn)
12g.51789305G>CCA384908072SCN8Ac.4306G>C (p.Asp1436His)
c.2370G>C
c.4183G>C (p.Asp1395His)
c.4339G>C (p.Asp1447His)
12g.51789305G>TCA384908068SCN8Ac.4306G>T (p.Asp1436Tyr)
c.2370G>T
c.4183G>T (p.Asp1395Tyr)
c.4339G>T (p.Asp1447Tyr)
12g.51789306A>CCA384908077SCN8Ac.4307A>C (p.Asp1436Ala)
c.2371A>C
c.4184A>C (p.Asp1395Ala)
c.4340A>C (p.Asp1447Ala)
12g.51789306A>GCA384908079SCN8Ac.4307A>G (p.Asp1436Gly)
c.2371A>G
c.4184A>G (p.Asp1395Gly)
c.4340A>G (p.Asp1447Gly)
12g.51789306A>TCA384908083SCN8Ac.4307A>T (p.Asp1436Val)
c.2371A>T
c.4184A>T (p.Asp1395Val)
c.4340A>T (p.Asp1447Val)
12g.51789307C>ACA384908091SCN8Ac.4308C>A (p.Asp1436Glu)
c.2372C>A
c.4185C>A (p.Asp1395Glu)
c.4341C>A (p.Asp1447Glu)
12g.51789307C=CA2036172203SCN8Ac.4308C= (p.Asp1436=)
c.2372C=
c.4185C= (p.Asp1395=)
c.4341C= (p.Asp1447=)
12g.51789307C>GCA384908093SCN8Ac.4308C>G (p.Asp1436Glu)
c.2372C>G
c.4185C>G (p.Asp1395Glu)
c.4341C>G (p.Asp1447Glu)
12g.51789307C>TCA479794927SCN8Ac.4308C>T (p.Asp1436=)
c.2372C>T
c.4185C>T (p.Asp1395=)
c.4341C>T (p.Asp1447=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789308A>CCA384908103SCN8Ac.4309A>C (p.Asn1437His)
c.2373A>C
c.4186A>C (p.Asn1396His)
c.4342A>C (p.Asn1448His)
12g.51789308A>GCA384908097SCN8Ac.4309A>G (p.Asn1437Asp)
c.2373A>G
c.4186A>G (p.Asn1396Asp)
c.4342A>G (p.Asn1448Asp)
12g.51789308A>TCA384908099SCN8Ac.4309A>T (p.Asn1437Tyr)
c.2373A>T
c.4186A>T (p.Asn1396Tyr)
c.4342A>T (p.Asn1448Tyr)
12g.51789309A>CCA384908106SCN8Ac.4310A>C (p.Asn1437Thr)
c.2374A>C
c.4187A>C (p.Asn1396Thr)
c.4343A>C (p.Asn1448Thr)
12g.51789309A>GCA384908109SCN8Ac.4310A>G (p.Asn1437Ser)
c.2374A>G
c.4187A>G (p.Asn1396Ser)
c.4343A>G (p.Asn1448Ser)
12g.51789309A>TCA384908111SCN8Ac.4310A>T (p.Asn1437Ile)
c.2374A>T
c.4187A>T (p.Asn1396Ile)
c.4343A>T (p.Asn1448Ile)
12g.51789310T>ACA384908114SCN8Ac.4311T>A (p.Asn1437Lys)
c.2375T>A
c.4188T>A (p.Asn1396Lys)
c.4344T>A (p.Asn1448Lys)
12g.51789310T>CCA16614148SCN8Ac.4311T>C (p.Asn1437=)
c.2375T>C
c.4188T>C (p.Asn1396=)
c.4344T>C (p.Asn1448=)
 ClinVar dbSNP gnomAD v4
12g.51789310T>GCA384908117SCN8Ac.4311T>G (p.Asn1437Lys)
c.2375T>G
c.4188T>G (p.Asn1396Lys)
c.4344T>G (p.Asn1448Lys)
12g.51789310T=CA2036172207SCN8Ac.4311T= (p.Asn1437=)
c.2375T=
c.4188T= (p.Asn1396=)
c.4344T= (p.Asn1448=)
12g.51789311A=CA2036172212SCN8Ac.4312A= (p.Ile1438=)
c.2376A=
c.4189A= (p.Ile1397=)
c.4345A= (p.Ile1449=)
12g.51789311A>CCA384908120SCN8Ac.4312A>C (p.Ile1438Leu)
c.2376A>C
c.4189A>C (p.Ile1397Leu)
c.4345A>C (p.Ile1449Leu)
12g.51789311A>GCA384908125SCN8Ac.4312A>G (p.Ile1438Val)
c.2376A>G
c.4189A>G (p.Ile1397Val)
c.4345A>G (p.Ile1449Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51789311A>TCA384908123SCN8Ac.4312A>T (p.Ile1438Phe)
c.2376A>T
c.4189A>T (p.Ile1397Phe)
c.4345A>T (p.Ile1449Phe)
12g.51789312T>ACA384908129SCN8Ac.4313T>A (p.Ile1438Asn)
c.2377T>A
c.4190T>A (p.Ile1397Asn)
c.4346T>A (p.Ile1449Asn)
12g.51789312T>CCA384908132SCN8Ac.4313T>C (p.Ile1438Thr)
c.2377T>C
c.4190T>C (p.Ile1397Thr)
c.4346T>C (p.Ile1449Thr)
12g.51789312T>GCA384908134SCN8Ac.4313T>G (p.Ile1438Ser)
c.2377T>G
c.4190T>G (p.Ile1397Ser)
c.4346T>G (p.Ile1449Ser)
12g.51789313C>ACA479794932SCN8Ac.4314C>A (p.Ile1438=)
c.2378C>A
c.4191C>A (p.Ile1397=)
c.4347C>A (p.Ile1449=)
12g.51789313C=CA2036172216SCN8Ac.4314C= (p.Ile1438=)
c.2378C=
c.4191C= (p.Ile1397=)
c.4347C= (p.Ile1449=)
12g.51789313C>GCA384908137SCN8Ac.4314C>G (p.Ile1438Met)
c.2378C>G
c.4191C>G (p.Ile1397Met)
c.4347C>G (p.Ile1449Met)
12g.51789313C>TCA479794933SCN8Ac.4314C>T (p.Ile1438=)
c.2378C>T
c.4191C>T (p.Ile1397=)
c.4347C>T (p.Ile1449=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51789314T>ACA384908138SCN8Ac.4315T>A (p.Tyr1439Asn)
c.2379T>A
c.4192T>A (p.Tyr1398Asn)
c.4348T>A (p.Tyr1450Asn)
12g.51789314T>CCA384908139SCN8Ac.4315T>C (p.Tyr1439His)
c.2379T>C
c.4192T>C (p.Tyr1398His)
c.4348T>C (p.Tyr1450His)
12g.51789314T>GCA384908140SCN8Ac.4315T>G (p.Tyr1439Asp)
c.2379T>G
c.4192T>G (p.Tyr1398Asp)
c.4348T>G (p.Tyr1450Asp)
12g.51789315A>CCA384908142SCN8Ac.4316A>C (p.Tyr1439Ser)
c.2380A>C
c.4193A>C (p.Tyr1398Ser)
c.4349A>C (p.Tyr1450Ser)
12g.51789315A>GCA384908143SCN8Ac.4316A>G (p.Tyr1439Cys)
c.2380A>G
c.4193A>G (p.Tyr1398Cys)
c.4349A>G (p.Tyr1450Cys)
12g.51789315A>TCA384908145SCN8Ac.4316A>T (p.Tyr1439Phe)
c.2380A>T
c.4193A>T (p.Tyr1398Phe)
c.4349A>T (p.Tyr1450Phe)
12g.51789316C>ACA384908147SCN8Ac.4317C>A (p.Tyr1439Ter)
c.2381C>A
c.4194C>A (p.Tyr1398Ter)
c.4350C>A (p.Tyr1450Ter)
12g.51789316C>GCA384908148SCN8Ac.4317C>G (p.Tyr1439Ter)
c.2381C>G
c.4194C>G (p.Tyr1398Ter)
c.4350C>G (p.Tyr1450Ter)
12g.51789316C>TCA479794935SCN8Ac.4317C>T (p.Tyr1439=)
c.2381C>T
c.4194C>T (p.Tyr1398=)
c.4350C>T (p.Tyr1450=)
 gnomAD v4
12g.51789317A>CCA384908154SCN8Ac.4318A>C (p.Met1440Leu)
c.2382A>C
c.4195A>C (p.Met1399Leu)
c.4351A>C (p.Met1451Leu)

Number of alleles fetched