Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.125043785dupCA2688509290WASHC5,WASHC5-AS1c.2850+44dup (n.2850+44dup)
c.2406+44dup (n.2406+44dup)
n.97-714dup
 gnomAD v4
8g.125043782A>GCA2688509292WASHC5,WASHC5-AS1c.2850+43T>C (n.2850+43T>C)
c.2406+43T>C (n.2406+43T>C)
n.97-717A>G
 gnomAD v4
8g.125043783A>TCA2718228990WASHC5,WASHC5-AS1c.2850+42T>A (n.2850+42T>A)
c.2406+42T>A (n.2406+42T>A)
n.97-716A>T
 dbSNP
8g.125043785A=CA1817243578WASHC5,WASHC5-AS1c.2850+40T= (n.2850+40T=)
c.2406+40T= (n.2406+40T=)
n.97-714A=
8g.125043785A>CCA2688509293WASHC5,WASHC5-AS1c.2850+40T>G (n.2850+40T>G)
c.2406+40T>G (n.2406+40T>G)
n.97-714A>C
 gnomAD v4
8g.125043785A>GCA4873411WASHC5,WASHC5-AS1c.2850+40T>C (n.2850+40T>C)
c.2406+40T>C (n.2406+40T>C)
n.97-714A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043786delCA2688509294WASHC5,WASHC5-AS1c.2850+39del (n.2850+39del)
c.2406+39del (n.2406+39del)
n.97-713del
 gnomAD v4
8g.125043786T>CCA4873412WASHC5,WASHC5-AS1c.2850+39A>G (n.2850+39A>G)
c.2406+39A>G (n.2406+39A>G)
n.97-713T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043786T>GCA846920370WASHC5,WASHC5-AS1c.2850+39A>C (n.2850+39A>C)
c.2406+39A>C (n.2406+39A>C)
n.97-713T>G
 dbSNP
8g.125043786T=CA1817243586WASHC5,WASHC5-AS1c.2850+39A= (n.2850+39A=)
c.2406+39A= (n.2406+39A=)
n.97-713T=
8g.125043787G>ACA1817243592WASHC5,WASHC5-AS1c.2850+38C>T (n.2850+38C>T)
c.2406+38C>T (n.2406+38C>T)
n.97-712G>A
 dbSNP gnomAD v4
8g.125043787G=CA1817243591WASHC5,WASHC5-AS1c.2850+38C= (n.2850+38C=)
c.2406+38C= (n.2406+38C=)
n.97-712G=
8g.125043787G>TCA1817243593WASHC5,WASHC5-AS1c.2850+38C>A (n.2850+38C>A)
c.2406+38C>A (n.2406+38C>A)
n.97-712G>T
 dbSNP gnomAD v4
8g.125043788T>GCA585276418WASHC5,WASHC5-AS1c.2850+37A>C (n.2850+37A>C)
c.2406+37A>C (n.2406+37A>C)
n.97-711T>G
 dbSNP gnomAD v2 gnomAD v4
8g.125043788T=CA1817243596WASHC5,WASHC5-AS1c.2850+37A= (n.2850+37A=)
c.2406+37A= (n.2406+37A=)
n.97-711T=
8g.125043788dupCA2688509295WASHC5,WASHC5-AS1c.2850+37dup (n.2850+37dup)
c.2406+37dup (n.2406+37dup)
n.97-711dup
 gnomAD v4
8g.125043789A=CA1817243619WASHC5,WASHC5-AS1c.2850+36T= (n.2850+36T=)
c.2406+36T= (n.2406+36T=)
n.97-710A=
8g.125043789A>CCA1817243620WASHC5,WASHC5-AS1c.2850+36T>G (n.2850+36T>G)
c.2406+36T>G (n.2406+36T>G)
n.97-710A>C
 dbSNP
8g.125043789A>TCA2688509296WASHC5,WASHC5-AS1c.2850+36T>A (n.2850+36T>A)
c.2406+36T>A (n.2406+36T>A)
n.97-710A>T
 gnomAD v4
8g.125043790A=CA1817243622WASHC5,WASHC5-AS1c.2850+35T= (n.2850+35T=)
c.2406+35T= (n.2406+35T=)
n.97-709A=
8g.125043790A>GCA585276419WASHC5,WASHC5-AS1c.2850+35T>C (n.2850+35T>C)
c.2406+35T>C (n.2406+35T>C)
n.97-709A>G
 dbSNP gnomAD v2 gnomAD v4
8g.125043791G>ACA4873413WASHC5,WASHC5-AS1c.2850+34C>T (n.2850+34C>T)
c.2406+34C>T (n.2406+34C>T)
n.97-708G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043791G>CCA4873414WASHC5,WASHC5-AS1c.2850+34C>G (n.2850+34C>G)
c.2406+34C>G (n.2406+34C>G)
n.97-708G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043791G=CA1817243625WASHC5,WASHC5-AS1c.2850+34C= (n.2850+34C=)
c.2406+34C= (n.2406+34C=)
n.97-708G=
8g.125043791G>TCA2579247016WASHC5,WASHC5-AS1c.2850+34C>A (n.2850+34C>A)
c.2406+34C>A (n.2406+34C>A)
n.97-708G>T
 gnomAD v4
8g.125043792T>CCA2688509297WASHC5,WASHC5-AS1c.2850+33A>G (n.2850+33A>G)
c.2406+33A>G (n.2406+33A>G)
n.97-707T>C
 gnomAD v4
8g.125043793A=CA1817243628WASHC5,WASHC5-AS1c.2850+32T= (n.2850+32T=)
c.2406+32T= (n.2406+32T=)
n.97-706A=
8g.125043793A>GCA846920383WASHC5,WASHC5-AS1c.2850+32T>C (n.2850+32T>C)
c.2406+32T>C (n.2406+32T>C)
n.97-706A>G
 dbSNP
8g.125043794T>CCA4873415WASHC5,WASHC5-AS1c.2850+31A>G (n.2850+31A>G)
c.2406+31A>G (n.2406+31A>G)
n.97-705T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043794T=CA1817243632WASHC5,WASHC5-AS1c.2850+31A= (n.2850+31A=)
c.2406+31A= (n.2406+31A=)
n.97-705T=
8g.125043796G>CCA2688509298WASHC5,WASHC5-AS1c.2850+29C>G (n.2850+29C>G)
c.2406+29C>G (n.2406+29C>G)
n.97-703G>C
 gnomAD v4
8g.125043796G>TCA2579247023WASHC5,WASHC5-AS1c.2850+29C>A (n.2850+29C>A)
c.2406+29C>A (n.2406+29C>A)
n.97-703G>T
 gnomAD v4
8g.125043797_125043799dupCA2579247025WASHC5,WASHC5-AS1c.2850+26_2850+28dup (n.2850+26_2850+28dup)
c.2406+26_2406+28dup (n.2406+26_2406+28dup)
n.97-702_97-700dup
8g.125043798C=CA1817243633WASHC5,WASHC5-AS1c.2850+27G= (n.2850+27G=)
c.2406+27G= (n.2406+27G=)
n.97-701C=
8g.125043798C>TCA1817243634WASHC5,WASHC5-AS1c.2850+27G>A (n.2850+27G>A)
c.2406+27G>A (n.2406+27G>A)
n.97-701C>T
 dbSNP
8g.125043799T>CCA185293214WASHC5,WASHC5-AS1c.2850+26A>G (n.2850+26A>G)
c.2406+26A>G (n.2406+26A>G)
n.97-700T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125043799T=CA1817243635WASHC5,WASHC5-AS1c.2850+26A= (n.2850+26A=)
c.2406+26A= (n.2406+26A=)
n.97-700T=
8g.125043800G>ACA2688509299WASHC5,WASHC5-AS1c.2850+25C>T (n.2850+25C>T)
c.2406+25C>T (n.2406+25C>T)
n.97-699G>A
 gnomAD v4
8g.125043800G>TCA2579247026WASHC5,WASHC5-AS1c.2850+25C>A (n.2850+25C>A)
c.2406+25C>A (n.2406+25C>A)
n.97-699G>T
 gnomAD v4
8g.125043801T>CCA2688509300WASHC5,WASHC5-AS1c.2850+24A>G (n.2850+24A>G)
c.2406+24A>G (n.2406+24A>G)
n.97-698T>C
 gnomAD v4
8g.125043802A>GCA2688509301WASHC5,WASHC5-AS1c.2850+23T>C (n.2850+23T>C)
c.2406+23T>C (n.2406+23T>C)
n.97-697A>G
 gnomAD v4
8g.125043803C=CA1817243639WASHC5,WASHC5-AS1c.2850+22G= (n.2850+22G=)
c.2406+22G= (n.2406+22G=)
n.97-696C=
8g.125043803C>TCA846920388WASHC5,WASHC5-AS1c.2850+22G>A (n.2850+22G>A)
c.2406+22G>A (n.2406+22G>A)
n.97-696C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125043803_125043804insGGGTCA2579247028WASHC5,WASHC5-AS1c.2850+21_2850+22insACCC (n.2850+21_2850+22insACCC)
c.2406+21_2406+22insACCC (n.2406+21_2406+22insACCC)
n.97-696_97-695insGGGT
 gnomAD v4
8g.125043804A=CA1817243651WASHC5,WASHC5-AS1c.2850+21T= (n.2850+21T=)
c.2406+21T= (n.2406+21T=)
n.97-695A=
8g.125043804A>GCA1817243654WASHC5,WASHC5-AS1c.2850+21T>C (n.2850+21T>C)
c.2406+21T>C (n.2406+21T>C)
n.97-695A>G
 dbSNP
8g.125043805C>TCA2688509304WASHC5,WASHC5-AS1c.2850+20G>A (n.2850+20G>A)
c.2406+20G>A (n.2406+20G>A)
n.97-694C>T
 gnomAD v4
8g.125043807dupCA585276420WASHC5,WASHC5-AS1c.2850+20dup (n.2850+20dup)
c.2406+20dup (n.2406+20dup)
n.97-692dup
 dbSNP gnomAD v2 gnomAD v4
8g.125043807delCA2688509303WASHC5,WASHC5-AS1c.2850+20del (n.2850+20del)
c.2406+20del (n.2406+20del)
n.97-692del
 gnomAD v4
8g.125043806C>ACA2688509306WASHC5,WASHC5-AS1c.2850+19G>T (n.2850+19G>T)
c.2406+19G>T (n.2406+19G>T)
n.97-693C>A
 gnomAD v4
8g.125043806C=CA1817243670WASHC5,WASHC5-AS1c.2850+19G= (n.2850+19G=)
c.2406+19G= (n.2406+19G=)
n.97-693C=
8g.125043806C>TCA1817243672WASHC5,WASHC5-AS1c.2850+19G>A (n.2850+19G>A)
c.2406+19G>A (n.2406+19G>A)
n.97-693C>T
 dbSNP gnomAD v4
8g.125043807C>ACA2688509307WASHC5,WASHC5-AS1c.2850+18G>T (n.2850+18G>T)
c.2406+18G>T (n.2406+18G>T)
n.97-692C>A
 gnomAD v4
8g.125043808T>CCA2688509308WASHC5,WASHC5-AS1c.2850+17A>G (n.2850+17A>G)
c.2406+17A>G (n.2406+17A>G)
n.97-691T>C
 gnomAD v4
8g.125043809C>TCA2688509309WASHC5,WASHC5-AS1c.2850+16G>A (n.2850+16G>A)
c.2406+16G>A (n.2406+16G>A)
n.97-690C>T
 gnomAD v4
8g.125043811C>TCA2688509312WASHC5,WASHC5-AS1c.2850+14G>A (n.2850+14G>A)
c.2406+14G>A (n.2406+14G>A)
n.97-688C>T
 gnomAD v4
8g.125043813T>CCA1817243675WASHC5,WASHC5-AS1c.2850+12A>G (n.2850+12A>G)
c.2406+12A>G (n.2406+12A>G)
n.97-686T>C
 dbSNP gnomAD v4
8g.125043813T=CA1817243674WASHC5,WASHC5-AS1c.2850+12A= (n.2850+12A=)
c.2406+12A= (n.2406+12A=)
n.97-686T=
8g.125043814C=CA1817243678WASHC5,WASHC5-AS1c.2850+11G= (n.2850+11G=)
c.2406+11G= (n.2406+11G=)
n.97-685C=
8g.125043814C>GCA846920395WASHC5,WASHC5-AS1c.2850+11G>C (n.2850+11G>C)
c.2406+11G>C (n.2406+11G>C)
n.97-685C>G
 dbSNP
8g.125043817C>ACA4873417WASHC5,WASHC5-AS1c.2850+8G>T (n.2850+8G>T)
c.2406+8G>T (n.2406+8G>T)
n.97-682C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043817C=CA1817243681WASHC5,WASHC5-AS1c.2850+8G= (n.2850+8G=)
c.2406+8G= (n.2406+8G=)
n.97-682C=
8g.125043817C>TCA4873416WASHC5,WASHC5-AS1c.2850+8G>A (n.2850+8G>A)
c.2406+8G>A (n.2406+8G>A)
n.97-682C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043820C=CA1817243685WASHC5,WASHC5-AS1c.2850+5G= (n.2850+5G=)
c.2406+5G= (n.2406+5G=)
n.97-679C=
8g.125043820C>TCA4873418WASHC5,WASHC5-AS1c.2850+5G>A (n.2850+5G>A)
c.2406+5G>A (n.2406+5G>A)
n.97-679C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043821A=CA1817243690WASHC5,WASHC5-AS1c.2850+4T= (n.2850+4T=)
c.2406+4T= (n.2406+4T=)
n.97-678A=
8g.125043821A>CCA2688509322WASHC5,WASHC5-AS1c.2850+4T>G (n.2850+4T>G)
c.2406+4T>G (n.2406+4T>G)
n.97-678A>C
 gnomAD v4
8g.125043821A>GCA4873419WASHC5,WASHC5-AS1c.2850+4T>C (n.2850+4T>C)
c.2406+4T>C (n.2406+4T>C)
n.97-678A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043822T>CCA846920407WASHC5,WASHC5-AS1c.2850+3A>G (n.2850+3A>G)
c.2406+3A>G (n.2406+3A>G)
n.97-677T>C
 dbSNP gnomAD v4
8g.125043822T=CA1817243697WASHC5,WASHC5-AS1c.2850+3A= (n.2850+3A=)
c.2406+3A= (n.2406+3A=)
n.97-677T=
8g.125043823A>CCA372186861WASHC5,WASHC5-AS1c.2850+2T>G (n.2850+2T>G)
c.2406+2T>G (n.2406+2T>G)
n.97-676A>C
8g.125043823A>GCA372186856WASHC5,WASHC5-AS1c.2850+2T>C (n.2850+2T>C)
c.2406+2T>C (n.2406+2T>C)
n.97-676A>G
8g.125043823A>TCA372186854WASHC5,WASHC5-AS1c.2850+2T>A (n.2850+2T>A)
c.2406+2T>A (n.2406+2T>A)
n.97-676A>T
 gnomAD v4
8g.125043824C>ACA4873420WASHC5,WASHC5-AS1c.2850+1G>T (n.2850+1G>T)
c.2406+1G>T (n.2406+1G>T)
n.97-675C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043824C=CA1817243705WASHC5,WASHC5-AS1c.2850+1G= (n.2850+1G=)
c.2406+1G= (n.2406+1G=)
n.97-675C=
8g.125043824C>GCA372186868WASHC5,WASHC5-AS1c.2850+1G>C (n.2850+1G>C)
c.2406+1G>C (n.2406+1G>C)
n.97-675C>G
8g.125043824C>TCA372186865WASHC5,WASHC5-AS1c.2850+1G>A (n.2850+1G>A)
c.2406+1G>A (n.2406+1G>A)
n.97-675C>T
8g.125043825C>ACA372186872WASHC5,WASHC5-AS1c.2850G>T (p.Lys950Asn)
c.2406G>T (p.Lys802Asn)
n.97-674C>A
8g.125043825C>GCA372186875WASHC5,WASHC5-AS1c.2850G>C (p.Lys950Asn)
c.2406G>C (p.Lys802Asn)
n.97-674C>G
8g.125043825C>TCA462767966WASHC5,WASHC5-AS1c.2850G>A (p.Lys950=)
c.2406G>A (p.Lys802=)
n.97-674C>T
8g.125043826T>ACA372186881WASHC5,WASHC5-AS1c.2849A>T (p.Lys950Met)
c.2405A>T (p.Lys802Met)
n.97-673T>A
8g.125043826T>CCA372186884WASHC5,WASHC5-AS1c.2849A>G (p.Lys950Arg)
c.2405A>G (p.Lys802Arg)
n.97-673T>C
 ClinVar dbSNP
8g.125043826T>GCA372186887WASHC5,WASHC5-AS1c.2849A>C (p.Lys950Thr)
c.2405A>C (p.Lys802Thr)
n.97-673T>G
8g.125043826T=CA1817243710WASHC5,WASHC5-AS1c.2849A= (p.Lys950=)
c.2405A= (p.Lys802=)
n.97-673T=
8g.125043827T>ACA372186898WASHC5,WASHC5-AS1c.2848A>T (p.Lys950Ter)
c.2404A>T (p.Lys802Ter)
n.97-672T>A
8g.125043827T>CCA372186895WASHC5,WASHC5-AS1c.2848A>G (p.Lys950Glu)
c.2404A>G (p.Lys802Glu)
n.97-672T>C
8g.125043827T>GCA372186891WASHC5,WASHC5-AS1c.2848A>C (p.Lys950Gln)
c.2404A>C (p.Lys802Gln)
n.97-672T>G
8g.125043828C>ACA372186903WASHC5,WASHC5-AS1c.2847G>T (p.Met949Ile)
c.2403G>T (p.Met801Ile)
n.97-671C>A
8g.125043828C>GCA372186905WASHC5,WASHC5-AS1c.2847G>C (p.Met949Ile)
c.2403G>C (p.Met801Ile)
n.97-671C>G
8g.125043828C>TCA372186908WASHC5,WASHC5-AS1c.2847G>A (p.Met949Ile)
c.2403G>A (p.Met801Ile)
n.97-671C>T
8g.125043829A=CA1817243715WASHC5,WASHC5-AS1c.2846T= (p.Met949=)
c.2402T= (p.Met801=)
n.97-670A=
8g.125043829A>CCA372186911WASHC5,WASHC5-AS1c.2846T>G (p.Met949Arg)
c.2402T>G (p.Met801Arg)
n.97-670A>C
 gnomAD v4
8g.125043829A>GCA372186914WASHC5,WASHC5-AS1c.2846T>C (p.Met949Thr)
c.2402T>C (p.Met801Thr)
n.97-670A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125043829A>TCA372186916WASHC5,WASHC5-AS1c.2846T>A (p.Met949Lys)
c.2402T>A (p.Met801Lys)
n.97-670A>T
8g.125043830T>ACA372186920WASHC5,WASHC5-AS1c.2845A>T (p.Met949Leu)
c.2401A>T (p.Met801Leu)
n.97-669T>A
8g.125043830T>CCA372186925WASHC5,WASHC5-AS1c.2845A>G (p.Met949Val)
c.2401A>G (p.Met801Val)
n.97-669T>C
8g.125043830T>GCA185293248WASHC5,WASHC5-AS1c.2845A>C (p.Met949Leu)
c.2401A>C (p.Met801Leu)
n.97-669T>G
 dbSNP
8g.125043830T=CA1817243719WASHC5,WASHC5-AS1c.2845A= (p.Met949=)
c.2401A= (p.Met801=)
n.97-669T=
8g.125043831T>ACA462767967WASHC5,WASHC5-AS1c.2844A>T (p.Ile948=)
c.2400A>T (p.Ile800=)
n.97-668T>A
8g.125043831T>CCA372186928WASHC5,WASHC5-AS1c.2844A>G (p.Ile948Met)
c.2400A>G (p.Ile800Met)
n.97-668T>C
 gnomAD v4
8g.125043831T>GCA462767968WASHC5,WASHC5-AS1c.2844A>C (p.Ile948=)
c.2400A>C (p.Ile800=)
n.97-668T>G
8g.125043832A>CCA372186932WASHC5,WASHC5-AS1c.2843T>G (p.Ile948Arg)
c.2399T>G (p.Ile800Arg)
n.97-667A>C
8g.125043832A>GCA372186934WASHC5,WASHC5-AS1c.2843T>C (p.Ile948Thr)
c.2399T>C (p.Ile800Thr)
n.97-667A>G
8g.125043832A>TCA372186935WASHC5,WASHC5-AS1c.2843T>A (p.Ile948Lys)
c.2399T>A (p.Ile800Lys)
n.97-667A>T
8g.125043833T>ACA372186938WASHC5,WASHC5-AS1c.2842A>T (p.Ile948Leu)
c.2398A>T (p.Ile800Leu)
n.97-666T>A
8g.125043833T>CCA4873421WASHC5,WASHC5-AS1c.2842A>G (p.Ile948Val)
c.2398A>G (p.Ile800Val)
n.97-666T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043833T>GCA372186943WASHC5,WASHC5-AS1c.2842A>C (p.Ile948Leu)
c.2398A>C (p.Ile800Leu)
n.97-666T>G
 gnomAD v4
8g.125043833T=CA1817243723WASHC5,WASHC5-AS1c.2842A= (p.Ile948=)
c.2398A= (p.Ile800=)
n.97-666T=
8g.125043834A=CA1817243729WASHC5,WASHC5-AS1c.2841T= (p.Ala947=)
c.2397T= (p.Ala799=)
n.97-665A=
8g.125043834A>CCA462767969WASHC5,WASHC5-AS1c.2841T>G (p.Ala947=)
c.2397T>G (p.Ala799=)
n.97-665A>C
8g.125043834A>GCA4873422WASHC5,WASHC5-AS1c.2841T>C (p.Ala947=)
c.2397T>C (p.Ala799=)
n.97-665A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043834A>TCA462767970WASHC5,WASHC5-AS1c.2841T>A (p.Ala947=)
c.2397T>A (p.Ala799=)
n.97-665A>T
8g.125043835G>ACA372186950WASHC5,WASHC5-AS1c.2840C>T (p.Ala947Val)
c.2396C>T (p.Ala799Val)
n.97-664G>A
 dbSNP
8g.125043835G>CCA372186952WASHC5,WASHC5-AS1c.2840C>G (p.Ala947Gly)
c.2396C>G (p.Ala799Gly)
n.97-664G>C
8g.125043835G>TCA372186955WASHC5,WASHC5-AS1c.2840C>A (p.Ala947Asp)
c.2396C>A (p.Ala799Asp)
n.97-664G>T
 gnomAD v4
8g.125043836C>ACA372186959WASHC5,WASHC5-AS1c.2839G>T (p.Ala947Ser)
c.2395G>T (p.Ala799Ser)
n.97-663C>A
 gnomAD v4
8g.125043836C=CA1817243734WASHC5,WASHC5-AS1c.2839G= (p.Ala947=)
c.2395G= (p.Ala799=)
n.97-663C=
8g.125043836C>GCA185293267WASHC5,WASHC5-AS1c.2839G>C (p.Ala947Pro)
c.2395G>C (p.Ala799Pro)
n.97-663C>G
 dbSNP
8g.125043836C>TCA372186962WASHC5,WASHC5-AS1c.2839G>A (p.Ala947Thr)
c.2395G>A (p.Ala799Thr)
n.97-663C>T
8g.125043837C>ACA372186968WASHC5,WASHC5-AS1c.2838G>T (p.Glu946Asp)
c.2394G>T (p.Glu798Asp)
n.97-662C>A
8g.125043837C>GCA372186971WASHC5,WASHC5-AS1c.2838G>C (p.Glu946Asp)
c.2394G>C (p.Glu798Asp)
n.97-662C>G
8g.125043837C>TCA462767971WASHC5,WASHC5-AS1c.2838G>A (p.Glu946=)
c.2394G>A (p.Glu798=)
n.97-662C>T
 gnomAD v4
8g.125043838T>ACA372186973WASHC5,WASHC5-AS1c.2837A>T (p.Glu946Val)
c.2393A>T (p.Glu798Val)
n.97-661T>A
8g.125043838T>CCA372186976WASHC5,WASHC5-AS1c.2837A>G (p.Glu946Gly)
c.2393A>G (p.Glu798Gly)
n.97-661T>C
8g.125043838T>GCA372186978WASHC5,WASHC5-AS1c.2837A>C (p.Glu946Ala)
c.2393A>C (p.Glu798Ala)
n.97-661T>G
8g.125043839C>ACA372186983WASHC5,WASHC5-AS1c.2836G>T (p.Glu946Ter)
c.2392G>T (p.Glu798Ter)
n.97-660C>A
8g.125043839C=CA1817243742WASHC5,WASHC5-AS1c.2836G= (p.Glu946=)
c.2392G= (p.Glu798=)
n.97-660C=
8g.125043839C>GCA372186986WASHC5,WASHC5-AS1c.2836G>C (p.Glu946Gln)
c.2392G>C (p.Glu798Gln)
n.97-660C>G
 gnomAD v4
8g.125043839C>TCA4873423WASHC5,WASHC5-AS1c.2836G>A (p.Glu946Lys)
c.2392G>A (p.Glu798Lys)
n.97-660C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043840G>ACA4873424WASHC5,WASHC5-AS1c.2835C>T (p.Leu945=)
c.2391C>T (p.Leu797=)
n.97-659G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043840G>CCA462767972WASHC5,WASHC5-AS1c.2835C>G (p.Leu945=)
c.2391C>G (p.Leu797=)
n.97-659G>C
8g.125043840G=CA1817243748WASHC5,WASHC5-AS1c.2835C= (p.Leu945=)
c.2391C= (p.Leu797=)
n.97-659G=
8g.125043840G>TCA462767973WASHC5,WASHC5-AS1c.2835C>A (p.Leu945=)
c.2391C>A (p.Leu797=)
n.97-659G>T
8g.125043841A>CCA372186996WASHC5,WASHC5-AS1c.2834T>G (p.Leu945Arg)
c.2390T>G (p.Leu797Arg)
n.97-658A>C
8g.125043841A>GCA372186997WASHC5,WASHC5-AS1c.2834T>C (p.Leu945Pro)
c.2390T>C (p.Leu797Pro)
n.97-658A>G
8g.125043841A>TCA372187002WASHC5,WASHC5-AS1c.2834T>A (p.Leu945His)
c.2390T>A (p.Leu797His)
n.97-658A>T
8g.125043842G>ACA372187009WASHC5,WASHC5-AS1c.2833C>T (p.Leu945Phe)
c.2389C>T (p.Leu797Phe)
n.97-657G>A
8g.125043842G>CCA185293284WASHC5,WASHC5-AS1c.2833C>G (p.Leu945Val)
c.2389C>G (p.Leu797Val)
n.97-657G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125043842G=CA1817243754WASHC5,WASHC5-AS1c.2833C= (p.Leu945=)
c.2389C= (p.Leu797=)
n.97-657G=
8g.125043842G>TCA372187007WASHC5,WASHC5-AS1c.2833C>A (p.Leu945Ile)
c.2389C>A (p.Leu797Ile)
n.97-657G>T
8g.125043843A=CA1817243759WASHC5,WASHC5-AS1c.2832T= (p.Tyr944=)
c.2388T= (p.Tyr796=)
n.97-656A=
8g.125043843A>CCA372187012WASHC5,WASHC5-AS1c.2832T>G (p.Tyr944Ter)
c.2388T>G (p.Tyr796Ter)
n.97-656A>C
8g.125043843A>GCA185293290WASHC5,WASHC5-AS1c.2832T>C (p.Tyr944=)
c.2388T>C (p.Tyr796=)
n.97-656A>G
 dbSNP
8g.125043843A>TCA372187017WASHC5,WASHC5-AS1c.2832T>A (p.Tyr944Ter)
c.2388T>A (p.Tyr796Ter)
n.97-656A>T
8g.125043843_125043859delinsATACGCAGTCCAAATCTCA1817243761WASHC5,WASHC5-AS1c.2816_2832delinsAGATTTGGACTGCGTAT (p.Lys939=)
c.2372_2388delinsAGATTTGGACTGCGTAT (p.Lys791=)
n.97-656_97-640delinsATACGCAGTCCAAATCT
8g.125043844T>ACA372187022WASHC5,WASHC5-AS1c.2831A>T (p.Tyr944Phe)
c.2387A>T (p.Tyr796Phe)
n.97-655T>A
8g.125043844T>CCA372187026WASHC5,WASHC5-AS1c.2831A>G (p.Tyr944Cys)
c.2387A>G (p.Tyr796Cys)
n.97-655T>C
 dbSNP gnomAD v2 gnomAD v4
8g.125043844T>GCA372187029WASHC5,WASHC5-AS1c.2831A>C (p.Tyr944Ser)
c.2387A>C (p.Tyr796Ser)
n.97-655T>G
8g.125043844T=CA1817243777WASHC5,WASHC5-AS1c.2831A= (p.Tyr944=)
c.2387A= (p.Tyr796=)
n.97-655T=
8g.125043845_125043860delCA4873425WASHC5,WASHC5-AS1c.2816_2831del (p.Lys939IlefsTer5)
c.2372_2387del (p.Lys791IlefsTer5)
n.97-654_97-639del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043845A>CCA372187033WASHC5,WASHC5-AS1c.2830T>G (p.Tyr944Asp)
c.2386T>G (p.Tyr796Asp)
n.97-654A>C
8g.125043845A>GCA372187036WASHC5,WASHC5-AS1c.2830T>C (p.Tyr944His)
c.2386T>C (p.Tyr796His)
n.97-654A>G
8g.125043845A>TCA372187039WASHC5,WASHC5-AS1c.2830T>A (p.Tyr944Asn)
c.2386T>A (p.Tyr796Asn)
n.97-654A>T
 gnomAD v4
8g.125043846C>ACA462767974WASHC5,WASHC5-AS1c.2829G>T (p.Ala943=)
c.2385G>T (p.Ala795=)
n.97-653C>A
8g.125043846C=CA1817243783WASHC5,WASHC5-AS1c.2829G= (p.Ala943=)
c.2385G= (p.Ala795=)
n.97-653C=
8g.125043846C>GCA462767975WASHC5,WASHC5-AS1c.2829G>C (p.Ala943=)
c.2385G>C (p.Ala795=)
n.97-653C>G
 dbSNP
8g.125043846C>TCA4873426WASHC5,WASHC5-AS1c.2829G>A (p.Ala943=)
c.2385G>A (p.Ala795=)
n.97-653C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043847G>ACA372187049WASHC5,WASHC5-AS1c.2828C>T (p.Ala943Val)
c.2384C>T (p.Ala795Val)
n.97-652G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.125043847G>CCA372187053WASHC5,WASHC5-AS1c.2828C>G (p.Ala943Gly)
c.2384C>G (p.Ala795Gly)
n.97-652G>C
8g.125043847G=CA1817243791WASHC5,WASHC5-AS1c.2828C= (p.Ala943=)
c.2384C= (p.Ala795=)
n.97-652G=
8g.125043847G>TCA372187045WASHC5,WASHC5-AS1c.2828C>A (p.Ala943Glu)
c.2384C>A (p.Ala795Glu)
n.97-652G>T
 gnomAD v4
8g.125043848C>ACA372187055WASHC5,WASHC5-AS1c.2827G>T (p.Ala943Ser)
c.2383G>T (p.Ala795Ser)
n.97-651C>A
8g.125043848C>GCA372187057WASHC5,WASHC5-AS1c.2827G>C (p.Ala943Pro)
c.2383G>C (p.Ala795Pro)
n.97-651C>G
8g.125043848C>TCA372187058WASHC5,WASHC5-AS1c.2827G>A (p.Ala943Thr)
c.2383G>A (p.Ala795Thr)
n.97-651C>T
8g.125043849A=CA1817243799WASHC5,WASHC5-AS1c.2826T= (p.Thr942=)
c.2382T= (p.Thr794=)
n.97-650A=
8g.125043849A>CCA4873427WASHC5,WASHC5-AS1c.2826T>G (p.Thr942=)
c.2382T>G (p.Thr794=)
n.97-650A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043849A>GCA4873428WASHC5,WASHC5-AS1c.2826T>C (p.Thr942=)
c.2382T>C (p.Thr794=)
n.97-650A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043849A>TCA462767976WASHC5,WASHC5-AS1c.2826T>A (p.Thr942=)
c.2382T>A (p.Thr794=)
n.97-650A>T
8g.125043849_125043852delinsAGTCCA1817243801WASHC5,WASHC5-AS1c.2823_2826delinsGACT (p.Trp941=)
c.2379_2382delinsGACT (p.Trp793=)
n.97-650_97-647delinsAGTC
8g.125043850G>ACA372187070WASHC5,WASHC5-AS1c.2825C>T (p.Thr942Ile)
c.2381C>T (p.Thr794Ile)
n.97-649G>A
8g.125043850G>CCA372187067WASHC5,WASHC5-AS1c.2825C>G (p.Thr942Ser)
c.2381C>G (p.Thr794Ser)
n.97-649G>C
8g.125043850G>TCA372187064WASHC5,WASHC5-AS1c.2825C>A (p.Thr942Asn)
c.2381C>A (p.Thr794Asn)
n.97-649G>T
8g.125043850_125043852delCA1118838014WASHC5,WASHC5-AS1c.2823_2825del (p.Trp941_Thr942delinsCys)
c.2379_2381del (p.Trp793_Thr794delinsCys)
n.97-649_97-647del
 dbSNP gnomAD v3 gnomAD v4
8g.125043851T>ACA372187074WASHC5,WASHC5-AS1c.2824A>T (p.Thr942Ser)
c.2380A>T (p.Thr794Ser)
n.97-648T>A
8g.125043851T>CCA372187077WASHC5,WASHC5-AS1c.2824A>G (p.Thr942Ala)
c.2380A>G (p.Thr794Ala)
n.97-648T>C
 dbSNP gnomAD v2 gnomAD v4
8g.125043851T>GCA372187078WASHC5,WASHC5-AS1c.2824A>C (p.Thr942Pro)
c.2380A>C (p.Thr794Pro)
n.97-648T>G
8g.125043851T=CA1817243805WASHC5,WASHC5-AS1c.2824A= (p.Thr942=)
c.2380A= (p.Thr794=)
n.97-648T=
8g.125043852C>ACA372187081WASHC5,WASHC5-AS1c.2823G>T (p.Trp941Cys)
c.2379G>T (p.Trp793Cys)
n.97-647C>A
 gnomAD v4
8g.125043852C>GCA372187084WASHC5,WASHC5-AS1c.2823G>C (p.Trp941Cys)
c.2379G>C (p.Trp793Cys)
n.97-647C>G
 gnomAD v4
8g.125043852C>TCA372187086WASHC5,WASHC5-AS1c.2823G>A (p.Trp941Ter)
c.2379G>A (p.Trp793Ter)
n.97-647C>T
8g.125043853C>ACA372187094WASHC5,WASHC5-AS1c.2822G>T (p.Trp941Leu)
c.2378G>T (p.Trp793Leu)
n.97-646C>A
 dbSNP gnomAD v3 gnomAD v4
8g.125043853C=CA1817243806WASHC5,WASHC5-AS1c.2822G= (p.Trp941=)
c.2378G= (p.Trp793=)
n.97-646C=
8g.125043853C>GCA372187090WASHC5,WASHC5-AS1c.2822G>C (p.Trp941Ser)
c.2378G>C (p.Trp793Ser)
n.97-646C>G
8g.125043853C>TCA372187092WASHC5,WASHC5-AS1c.2822G>A (p.Trp941Ter)
c.2378G>A (p.Trp793Ter)
n.97-646C>T
8g.125043854A>CCA372187098WASHC5,WASHC5-AS1c.2821T>G (p.Trp941Gly)
c.2377T>G (p.Trp793Gly)
n.97-645A>C
8g.125043854A>GCA372187101WASHC5,WASHC5-AS1c.2821T>C (p.Trp941Arg)
c.2377T>C (p.Trp793Arg)
n.97-645A>G
8g.125043854A>TCA372187105WASHC5,WASHC5-AS1c.2821T>A (p.Trp941Arg)
c.2377T>A (p.Trp793Arg)
n.97-645A>T
8g.125043854_125043857dupCA2688509398WASHC5,WASHC5-AS1c.2818_2821dup (p.Trp941TyrfsTer25)
c.2374_2377dup (p.Trp793TyrfsTer25)
n.97-645_97-642dup
 gnomAD v4
8g.125043855A>CCA372187109WASHC5,WASHC5-AS1c.2820T>G (p.Ile940Met)
c.2376T>G (p.Ile792Met)
n.97-644A>C
8g.125043855A>GCA462767977WASHC5,WASHC5-AS1c.2820T>C (p.Ile940=)
c.2376T>C (p.Ile792=)
n.97-644A>G
8g.125043855A>TCA462767978WASHC5,WASHC5-AS1c.2820T>A (p.Ile940=)
c.2376T>A (p.Ile792=)
n.97-644A>T
8g.125043856A=CA1817243812WASHC5,WASHC5-AS1c.2819T= (p.Ile940=)
c.2375T= (p.Ile792=)
n.97-643A=
8g.125043856A>CCA372187111WASHC5,WASHC5-AS1c.2819T>G (p.Ile940Ser)
c.2375T>G (p.Ile792Ser)
n.97-643A>C
8g.125043856A>GCA4873429WASHC5,WASHC5-AS1c.2819T>C (p.Ile940Thr)
c.2375T>C (p.Ile792Thr)
n.97-643A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125043856A>TCA372187117WASHC5,WASHC5-AS1c.2819T>A (p.Ile940Asn)
c.2375T>A (p.Ile792Asn)
n.97-643A>T
8g.125043856_125043859delinsATCTCA1817243810WASHC5,WASHC5-AS1c.2816_2819delinsAGAT (p.Lys939=)
c.2372_2375delinsAGAT (p.Lys791=)
n.97-643_97-640delinsATCT
8g.125043857T>ACA372187121WASHC5,WASHC5-AS1c.2818A>T (p.Ile940Phe)
c.2374A>T (p.Ile792Phe)
n.97-642T>A
 gnomAD v4
8g.125043857T>CCA372187124WASHC5,WASHC5-AS1c.2818A>G (p.Ile940Val)
c.2374A>G (p.Ile792Val)
n.97-642T>C
8g.125043857T>GCA372187128WASHC5,WASHC5-AS1c.2818A>C (p.Ile940Leu)
c.2374A>C (p.Ile792Leu)
n.97-642T>G
8g.125043860_125043862delCA4873430WASHC5,WASHC5-AS1c.2816_2818del (p.Lys939del)
c.2372_2374del (p.Lys791del)
n.97-639_97-637del
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125043858C>ACA372187132WASHC5,WASHC5-AS1c.2817G>T (p.Lys939Asn)
c.2373G>T (p.Lys791Asn)
n.97-641C>A
 COSMIC
8g.125043858C>GCA372187135WASHC5,WASHC5-AS1c.2817G>C (p.Lys939Asn)
c.2373G>C (p.Lys791Asn)
n.97-641C>G
8g.125043858C>TCA462767979WASHC5,WASHC5-AS1c.2817G>A (p.Lys939=)
c.2373G>A (p.Lys791=)
n.97-641C>T
8g.125043859T>ACA372187140WASHC5,WASHC5-AS1c.2816A>T (p.Lys939Met)
c.2372A>T (p.Lys791Met)
n.97-640T>A
8g.125043859T>CCA372187146WASHC5,WASHC5-AS1c.2816A>G (p.Lys939Arg)
c.2372A>G (p.Lys791Arg)
n.97-640T>C
8g.125043859T>GCA372187143WASHC5,WASHC5-AS1c.2816A>C (p.Lys939Thr)
c.2372A>C (p.Lys791Thr)
n.97-640T>G
8g.125043860T>ACA372187150WASHC5,WASHC5-AS1c.2815A>T (p.Lys939Ter)
c.2371A>T (p.Lys791Ter)
n.97-639T>A
8g.125043860T>CCA4873431WASHC5,WASHC5-AS1c.2815A>G (p.Lys939Glu)
c.2371A>G (p.Lys791Glu)
n.97-639T>C
 dbSNP ExAC gnomAD v2
8g.125043860T>GCA372187154WASHC5,WASHC5-AS1c.2815A>C (p.Lys939Gln)
c.2371A>C (p.Lys791Gln)
n.97-639T>G
8g.125043860T=CA1817243823WASHC5,WASHC5-AS1c.2815A= (p.Lys939=)
c.2371A= (p.Lys791=)
n.97-639T=
8g.125043861C>ACA372187158WASHC5,WASHC5-AS1c.2814G>T (p.Gln938His)
c.2370G>T (p.Gln790His)
n.97-638C>A
8g.125043861C>GCA372187161WASHC5,WASHC5-AS1c.2814G>C (p.Gln938His)
c.2370G>C (p.Gln790His)
n.97-638C>G
8g.125043861C>TCA462767980WASHC5,WASHC5-AS1c.2814G>A (p.Gln938=)
c.2370G>A (p.Gln790=)
n.97-638C>T
 gnomAD v4
8g.125043861_125043863delinsCTGCA1817243830WASHC5,WASHC5-AS1c.2812_2814delinsCAG (p.Gln938=)
c.2368_2370delinsCAG (p.Gln790=)
n.97-638_97-636delinsCTG
8g.125043862T>ACA372187169WASHC5,WASHC5-AS1c.2813A>T (p.Gln938Leu)
c.2369A>T (p.Gln790Leu)
n.97-637T>A
8g.125043862T>CCA372187166WASHC5,WASHC5-AS1c.2813A>G (p.Gln938Arg)
c.2369A>G (p.Gln790Arg)
n.97-637T>C
 dbSNP
8g.125043862T>GCA372187164WASHC5,WASHC5-AS1c.2813A>C (p.Gln938Pro)
c.2369A>C (p.Gln790Pro)
n.97-637T>G
8g.125043862T=CA1817243834WASHC5,WASHC5-AS1c.2813A= (p.Gln938=)
c.2369A= (p.Gln790=)
n.97-637T=
8g.125043865_125043866delCA846920502WASHC5,WASHC5-AS1c.2812_2813del (p.Gln938GlufsTer26)
c.2368_2369del (p.Gln790GlufsTer26)
n.97-634_97-633del
 dbSNP gnomAD v3 gnomAD v4
8g.125043863G>ACA372187173WASHC5,WASHC5-AS1c.2812C>T (p.Gln938Ter)
c.2368C>T (p.Gln790Ter)
n.97-636G>A
8g.125043863G>CCA372187175WASHC5,WASHC5-AS1c.2812C>G (p.Gln938Glu)
c.2368C>G (p.Gln790Glu)
n.97-636G>C
8g.125043863G>TCA372187177WASHC5,WASHC5-AS1c.2812C>A (p.Gln938Lys)
c.2368C>A (p.Gln790Lys)
n.97-636G>T
8g.125043864T>ACA462767981WASHC5,WASHC5-AS1c.2811A>T (p.Thr937=)
c.2367A>T (p.Thr789=)
n.97-635T>A
8g.125043864T>CCA462767982WASHC5,WASHC5-AS1c.2811A>G (p.Thr937=)
c.2367A>G (p.Thr789=)
n.97-635T>C
 gnomAD v4
8g.125043864T>GCA462767983WASHC5,WASHC5-AS1c.2811A>C (p.Thr937=)
c.2367A>C (p.Thr789=)
n.97-635T>G
8g.125043865G>ACA372187180WASHC5,WASHC5-AS1c.2810C>T (p.Thr937Ile)
c.2366C>T (p.Thr789Ile)
n.97-634G>A
 dbSNP gnomAD v3 gnomAD v4
8g.125043865G>CCA372187183WASHC5,WASHC5-AS1c.2810C>G (p.Thr937Arg)
c.2366C>G (p.Thr789Arg)
n.97-634G>C
8g.125043865G=CA1817243836WASHC5,WASHC5-AS1c.2810C= (p.Thr937=)
c.2366C= (p.Thr789=)
n.97-634G=
8g.125043865G>TCA372187186WASHC5,WASHC5-AS1c.2810C>A (p.Thr937Lys)
c.2366C>A (p.Thr789Lys)
n.97-634G>T
8g.125043866T>ACA372187188WASHC5,WASHC5-AS1c.2809A>T (p.Thr937Ser)
c.2365A>T (p.Thr789Ser)
n.97-633T>A
8g.125043866T>CCA372187193WASHC5,WASHC5-AS1c.2809A>G (p.Thr937Ala)
c.2365A>G (p.Thr789Ala)
n.97-633T>C
 gnomAD v4
8g.125043866T>GCA372187191WASHC5,WASHC5-AS1c.2809A>C (p.Thr937Pro)
c.2365A>C (p.Thr789Pro)
n.97-633T>G
8g.125043867T>ACA372187197WASHC5,WASHC5-AS1c.2808A>T (p.Lys936Asn)
c.2364A>T (p.Lys788Asn)
n.97-632T>A
8g.125043867T>CCA462767984WASHC5,WASHC5-AS1c.2808A>G (p.Lys936=)
c.2364A>G (p.Lys788=)
n.97-632T>C
8g.125043867T>GCA372187199WASHC5,WASHC5-AS1c.2808A>C (p.Lys936Asn)
c.2364A>C (p.Lys788Asn)
n.97-632T>G
8g.125043868T>ACA372187203WASHC5,WASHC5-AS1c.2807A>T (p.Lys936Ile)
c.2363A>T (p.Lys788Ile)
n.97-631T>A
8g.125043868T>CCA372187205WASHC5,WASHC5-AS1c.2807A>G (p.Lys936Arg)
c.2363A>G (p.Lys788Arg)
n.97-631T>C
 gnomAD v4
8g.125043868T>GCA372187207WASHC5,WASHC5-AS1c.2807A>C (p.Lys936Thr)
c.2363A>C (p.Lys788Thr)
n.97-631T>G
 dbSNP
8g.125043868T=CA1817243839WASHC5,WASHC5-AS1c.2807A= (p.Lys936=)
c.2363A= (p.Lys788=)
n.97-631T=
8g.125043869T>ACA372187209WASHC5,WASHC5-AS1c.2806A>T (p.Lys936Ter)
c.2362A>T (p.Lys788Ter)
n.97-630T>A
8g.125043869T>CCA372187211WASHC5,WASHC5-AS1c.2806A>G (p.Lys936Glu)
c.2362A>G (p.Lys788Glu)
n.97-630T>C
8g.125043869T>GCA372187214WASHC5,WASHC5-AS1c.2806A>C (p.Lys936Gln)
c.2362A>C (p.Lys788Gln)
n.97-630T>G
8g.125043870G>ACA462767986WASHC5,WASHC5-AS1c.2805C>T (p.Ala935=)
c.2361C>T (p.Ala787=)
n.97-629G>A
 gnomAD v4
8g.125043870G>CCA462767985WASHC5,WASHC5-AS1c.2805C>G (p.Ala935=)
c.2361C>G (p.Ala787=)
n.97-629G>C
8g.125043870G>TCA462767987WASHC5,WASHC5-AS1c.2805C>A (p.Ala935=)
c.2361C>A (p.Ala787=)
n.97-629G>T
8g.125043871G>ACA372187218WASHC5,WASHC5-AS1c.2804C>T (p.Ala935Val)
c.2360C>T (p.Ala787Val)
n.97-628G>A
 gnomAD v4
8g.125043871G>CCA372187221WASHC5,WASHC5-AS1c.2804C>G (p.Ala935Gly)
c.2360C>G (p.Ala787Gly)
n.97-628G>C
8g.125043871G>TCA372187223WASHC5,WASHC5-AS1c.2804C>A (p.Ala935Asp)
c.2360C>A (p.Ala787Asp)
n.97-628G>T
8g.125043872C>ACA372187229WASHC5,WASHC5-AS1c.2803G>T (p.Ala935Ser)
c.2359G>T (p.Ala787Ser)
n.97-627C>A
8g.125043872C>GCA372187231WASHC5,WASHC5-AS1c.2803G>C (p.Ala935Pro)
c.2359G>C (p.Ala787Pro)
n.97-627C>G
8g.125043872C>TCA372187227WASHC5,WASHC5-AS1c.2803G>A (p.Ala935Thr)
c.2359G>A (p.Ala787Thr)
n.97-627C>T
 gnomAD v4
8g.125043873A=CA1817243842WASHC5,WASHC5-AS1c.2802T= (p.Ile934=)
c.2358T= (p.Ile786=)
n.97-626A=
8g.125043873A>CCA372187234WASHC5,WASHC5-AS1c.2802T>G (p.Ile934Met)
c.2358T>G (p.Ile786Met)
n.97-626A>C
 gnomAD v4
8g.125043873A>GCA462767989WASHC5,WASHC5-AS1c.2802T>C (p.Ile934=)
c.2358T>C (p.Ile786=)
n.97-626A>G
 dbSNP gnomAD v4
8g.125043873A>TCA462767988WASHC5,WASHC5-AS1c.2802T>A (p.Ile934=)
c.2358T>A (p.Ile786=)
n.97-626A>T
8g.125043874A=CA1817243845WASHC5,WASHC5-AS1c.2801T= (p.Ile934=)
c.2357T= (p.Ile786=)
n.97-625A=
8g.125043874A>CCA372187240WASHC5,WASHC5-AS1c.2801T>G (p.Ile934Ser)
c.2357T>G (p.Ile786Ser)
n.97-625A>C
8g.125043874A>GCA372187249WASHC5,WASHC5-AS1c.2801T>C (p.Ile934Thr)
c.2357T>C (p.Ile786Thr)
n.97-625A>G
 dbSNP gnomAD v4
8g.125043874A>TCA372187244WASHC5,WASHC5-AS1c.2801T>A (p.Ile934Asn)
c.2357T>A (p.Ile786Asn)
n.97-625A>T
8g.125043875T>ACA372187253WASHC5,WASHC5-AS1c.2800A>T (p.Ile934Phe)
c.2356A>T (p.Ile786Phe)
n.97-624T>A
8g.125043875T>CCA185293352WASHC5,WASHC5-AS1c.2800A>G (p.Ile934Val)
c.2356A>G (p.Ile786Val)
n.97-624T>C
 dbSNP gnomAD v3 gnomAD v4
8g.125043875T>GCA372187256WASHC5,WASHC5-AS1c.2800A>C (p.Ile934Leu)
c.2356A>C (p.Ile786Leu)
n.97-624T>G
8g.125043875T=CA1817243847WASHC5,WASHC5-AS1c.2800A= (p.Ile934=)
c.2356A= (p.Ile786=)
n.97-624T=
8g.125043876G>ACA462767990WASHC5,WASHC5-AS1c.2799C>T (p.Ala933=)
c.2355C>T (p.Ala785=)
n.97-623G>A
8g.125043876G>CCA462767992WASHC5,WASHC5-AS1c.2799C>G (p.Ala933=)
c.2355C>G (p.Ala785=)
n.97-623G>C
8g.125043876G>TCA462767991WASHC5,WASHC5-AS1c.2799C>A (p.Ala933=)
c.2355C>A (p.Ala785=)
n.97-623G>T
8g.125043877G>ACA372187260WASHC5,WASHC5-AS1c.2798C>T (p.Ala933Val)
c.2354C>T (p.Ala785Val)
n.97-622G>A
 dbSNP gnomAD v3 gnomAD v4
8g.125043877G>CCA372187268WASHC5,WASHC5-AS1c.2798C>G (p.Ala933Gly)
c.2354C>G (p.Ala785Gly)
n.97-622G>C
8g.125043877G=CA1817243856WASHC5,WASHC5-AS1c.2798C= (p.Ala933=)
c.2354C= (p.Ala785=)
n.97-622G=
8g.125043877G>TCA372187264WASHC5,WASHC5-AS1c.2798C>A (p.Ala933Asp)
c.2354C>A (p.Ala785Asp)
n.97-622G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125043878C>ACA372187270WASHC5,WASHC5-AS1c.2797G>T (p.Ala933Ser)
c.2353G>T (p.Ala785Ser)
n.97-621C>A
8g.125043878C=CA1817243861WASHC5,WASHC5-AS1c.2797G= (p.Ala933=)
c.2353G= (p.Ala785=)
n.97-621C=
8g.125043878C>GCA372187272WASHC5,WASHC5-AS1c.2797G>C (p.Ala933Pro)
c.2353G>C (p.Ala785Pro)
n.97-621C>G
8g.125043878C>TCA4873432WASHC5,WASHC5-AS1c.2797G>A (p.Ala933Thr)
c.2353G>A (p.Ala785Thr)
n.97-621C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.125043879G>ACA462767993WASHC5,WASHC5-AS1c.2796C>T (p.Ser932=)
c.2352C>T (p.Ser784=)
n.97-620G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125043879G>CCA462767994WASHC5,WASHC5-AS1c.2796C>G (p.Ser932=)
c.2352C>G (p.Ser784=)
n.97-620G>C
8g.125043879G=CA1817243865WASHC5,WASHC5-AS1c.2796C= (p.Ser932=)
c.2352C= (p.Ser784=)
n.97-620G=
8g.125043879G>TCA462767995WASHC5,WASHC5-AS1c.2796C>A (p.Ser932=)
c.2352C>A (p.Ser784=)
n.97-620G>T
8g.125043880G>ACA372187277WASHC5,WASHC5-AS1c.2795C>T (p.Ser932Phe)
c.2351C>T (p.Ser784Phe)
n.97-619G>A
8g.125043880G>CCA372187280WASHC5,WASHC5-AS1c.2795C>G (p.Ser932Cys)
c.2351C>G (p.Ser784Cys)
n.97-619G>C
8g.125043880G>TCA372187283WASHC5,WASHC5-AS1c.2795C>A (p.Ser932Tyr)
c.2351C>A (p.Ser784Tyr)
n.97-619G>T
8g.125043881A=CA1817243870WASHC5,WASHC5-AS1c.2794T= (p.Ser932=)
c.2350T= (p.Ser784=)
n.97-618A=
8g.125043881A>CCA372187288WASHC5,WASHC5-AS1c.2794T>G (p.Ser932Ala)
c.2350T>G (p.Ser784Ala)
n.97-618A>C
8g.125043881A>GCA372187291WASHC5,WASHC5-AS1c.2794T>C (p.Ser932Pro)
c.2350T>C (p.Ser784Pro)
n.97-618A>G
 COSMIC
8g.125043881A>TCA372187294WASHC5,WASHC5-AS1c.2794T>A (p.Ser932Thr)
c.2350T>A (p.Ser784Thr)
n.97-618A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.125043882A=CA1817243876WASHC5,WASHC5-AS1c.2793T= (p.Phe931=)
c.2349T= (p.Phe783=)
n.97-617A=
8g.125043882A>CCA372187299WASHC5,WASHC5-AS1c.2793T>G (p.Phe931Leu)
c.2349T>G (p.Phe783Leu)
n.97-617A>C
8g.125043882A>GCA462767996WASHC5,WASHC5-AS1c.2793T>C (p.Phe931=)
c.2349T>C (p.Phe783=)
n.97-617A>G
 dbSNP gnomAD v3 gnomAD v4
8g.125043882A>TCA372187301WASHC5,WASHC5-AS1c.2793T>A (p.Phe931Leu)
c.2349T>A (p.Phe783Leu)
n.97-617A>T
 COSMIC

Number of alleles fetched