Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88427461C>ACA2241069999ZNF469c.-10C>A (n.-10C>A)
n.250+2503G>T
dbSNP gnomAD v4
16g.88427461C=CA2241069998ZNF469c.-10C= (n.-10C=)
n.250+2503G=
16g.88427461C>TCA286371130ZNF469c.-10C>T (n.-10C>T)
n.250+2503G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427462G>ACA8224560ZNF469c.-9G>A (n.-9G>A)
n.250+2502C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88427462G>CCA2634824078ZNF469c.-9G>C (n.-9G>C)
n.250+2502C>G
gnomAD v4
16g.88427462G=CA2241070000ZNF469c.-9G= (n.-9G=)
n.250+2502C=
16g.88427462G>TCA2634824077ZNF469c.-9G>T (n.-9G>T)
n.250+2502C>A
gnomAD v4
16g.88427463G>TCA2634824079ZNF469c.-8G>T (n.-8G>T)
n.250+2501C>A
gnomAD v4
16g.88427463_88427464delinsGACA2241070001ZNF469c.-8_-7delinsGA (n.-8_-7delinsGA)
n.250+2500_250+2501delinsTC
16g.88427464delCA2241070002ZNF469c.-7del (n.-7del)
n.250+2500del
dbSNP
16g.88427464A>GCA2634824080ZNF469c.-7A>G (n.-7A>G)
n.250+2500T>C
gnomAD v4
16g.88427464A>TCA2634824081ZNF469c.-7A>T (n.-7A>T)
n.250+2500T>A
gnomAD v4
16g.88427465G>ACA624447565ZNF469c.-6G>A (n.-6G>A)
n.250+2499C>T
dbSNP gnomAD v2 gnomAD v4
16g.88427465G=CA2241070003ZNF469c.-6G= (n.-6G=)
n.250+2499C=
16g.88427466G>ACA2634824082ZNF469c.-5G>A (n.-5G>A)
n.250+2498C>T
gnomAD v4
16g.88427466G>CCA2241070005ZNF469c.-5G>C (n.-5G>C)
n.250+2498C>G
dbSNP
16g.88427466G=CA2241070004ZNF469c.-5G= (n.-5G=)
n.250+2498C=
16g.88427467G>ACA286371160ZNF469c.-4G>A (n.-4G>A)
n.250+2497C>T
dbSNP gnomAD v4
16g.88427467G>CCA286371163ZNF469c.-4G>C (n.-4G>C)
n.250+2497C>G
dbSNP
16g.88427467G=CA2241070006ZNF469c.-4G= (n.-4G=)
n.250+2497C=
16g.88427467G>TCA2732934663ZNF469c.-4G>T (n.-4G>T)
n.250+2497C>A
dbSNP
16g.88427468G>ACA624447566ZNF469c.-3G>A (n.-3G>A)
n.250+2496C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427468G=CA2241070007ZNF469c.-3G= (n.-3G=)
n.250+2496C=
16g.88427468G>TCA2634824083ZNF469c.-3G>T (n.-3G>T)
n.250+2496C>A
gnomAD v4
16g.88427469C=CA2241070008ZNF469c.-2C= (n.-2C=)
n.250+2495G=
16g.88427469C>TCA286371170ZNF469c.-2C>T (n.-2C>T)
n.250+2495G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427470C>TCA2634824084ZNF469c.-1C>T (n.-1C>T)
n.250+2494G>A
gnomAD v4
16g.88427471A=CA2241070009ZNF469c.1A= (p.Met1=)
n.250+2493T=
16g.88427471A>CCA397057093ZNF469c.1A>C (p.Met1Leu)
n.250+2493T>G
16g.88427471A>GCA397057094ZNF469c.1A>G (p.Met1Val)
n.250+2493T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88427471A>TCA397057096ZNF469c.1A>T (p.Met1Leu)
n.250+2493T>A
16g.88427472T>ACA397057104ZNF469c.2T>A (p.Met1Lys)
n.250+2492A>T
16g.88427472T>CCA397057101ZNF469c.2T>C (p.Met1Thr)
n.250+2492A>G
dbSNP gnomAD v3 gnomAD v4
16g.88427472T>GCA397057099ZNF469c.2T>G (p.Met1Arg)
n.250+2492A>C
16g.88427472T=CA2241070010ZNF469c.2T= (p.Met1=)
n.250+2492A=
16g.88427473G>ACA397057113ZNF469c.3G>A (p.Met1Ile)
n.250+2491C>T
16g.88427473G>CCA397057124ZNF469c.3G>C (p.Met1Ile)
n.250+2491C>G
16g.88427473G>TCA397057133ZNF469c.3G>T (p.Met1Ile)
n.250+2491C>A
gnomAD v4
16g.88427474C>ACA397057135ZNF469c.4C>A (p.Pro2Thr)
n.250+2490G>T
ClinVar gnomAD v4
16g.88427474C=CA2241070011ZNF469c.4C= (p.Pro2=)
n.250+2490G=
16g.88427474C>GCA397057136ZNF469c.4C>G (p.Pro2Ala)
n.250+2490G>C
16g.88427474C>TCA397057137ZNF469c.4C>T (p.Pro2Ser)
n.250+2490G>A
dbSNP gnomAD v2 gnomAD v4
16g.88427475delCA2740093449ZNF469c.5del (p.Pro2LeufsTer13)
n.250+2490del
ClinVar
16g.88427475C>ACA397057140ZNF469c.5C>A (p.Pro2His)
n.250+2489G>T
dbSNP gnomAD v3 gnomAD v4
16g.88427475C=CA2241070012ZNF469c.5C= (p.Pro2=)
n.250+2489G=
16g.88427475C>GCA397057142ZNF469c.5C>G (p.Pro2Arg)
n.250+2489G>C
16g.88427475C>TCA397057148ZNF469c.5C>T (p.Pro2Leu)
n.250+2489G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427476T>ACA497342935ZNF469c.6T>A (p.Pro2=)
n.250+2488A>T
16g.88427476T>CCA497342936ZNF469c.6T>C (p.Pro2=)
n.250+2488A>G
16g.88427476T>GCA497342937ZNF469c.6T>G (p.Pro2=)
n.250+2488A>C
gnomAD v4
16g.88427477G>ACA397057150ZNF469c.7G>A (p.Gly3Arg)
n.250+2487C>T
gnomAD v4
16g.88427477G>CCA397057151ZNF469c.7G>C (p.Gly3Arg)
n.250+2487C>G
16g.88427477G>TCA397057153ZNF469c.7G>T (p.Gly3Trp)
n.250+2487C>A
gnomAD v4
16g.88427480delCA2634824085ZNF469c.10del (p.Glu4SerfsTer11)
n.250+2487del
gnomAD v4
16g.88427478G>ACA397057169ZNF469c.8G>A (p.Gly3Glu)
n.250+2486C>T
gnomAD v4
16g.88427478G>CCA397057164ZNF469c.8G>C (p.Gly3Ala)
n.250+2486C>G
16g.88427478G>TCA397057160ZNF469c.8G>T (p.Gly3Val)
n.250+2486C>A
gnomAD v4
16g.88427479G>ACA497342938ZNF469c.9G>A (p.Gly3=)
n.250+2485C>T
gnomAD v4
16g.88427479G>CCA497342939ZNF469c.9G>C (p.Gly3=)
n.250+2485C>G
gnomAD v4
16g.88427479G>TCA497342940ZNF469c.9G>T (p.Gly3=)
n.250+2485C>A
gnomAD v4
16g.88427487_88427499delCA2697556085ZNF469c.17_29del (p.Pro6ArgfsTer5)
n.250+2473_250+2485del
ClinVar
16g.88427480G>ACA397057174ZNF469c.10G>A (p.Glu4Lys)
n.250+2484C>T
gnomAD v4
16g.88427480G>CCA397057176ZNF469c.10G>C (p.Glu4Gln)
n.250+2484C>G
16g.88427480G>TCA397057175ZNF469c.10G>T (p.Glu4Ter)
n.250+2484C>A
gnomAD v4
16g.88427481A=CA2241070013ZNF469c.11A= (p.Glu4=)
n.250+2483T=
16g.88427481A>CCA397057181ZNF469c.11A>C (p.Glu4Ala)
n.250+2483T>G
16g.88427481A>GCA397057186ZNF469c.11A>G (p.Glu4Gly)
n.250+2483T>C
dbSNP gnomAD v4
16g.88427481A>TCA397057200ZNF469c.11A>T (p.Glu4Val)
n.250+2483T>A
16g.88427482G>ACA497342941ZNF469c.12G>A (p.Glu4=)
n.250+2482C>T
gnomAD v4
16g.88427482G>CCA397057208ZNF469c.12G>C (p.Glu4Asp)
n.250+2482C>G
16g.88427482G>TCA397057212ZNF469c.12G>T (p.Glu4Asp)
n.250+2482C>A
gnomAD v4
16g.88427483C>ACA397057217ZNF469c.13C>A (p.Arg5Ser)
n.250+2481G>T
gnomAD v4
16g.88427483C=CA2241070014ZNF469c.13C= (p.Arg5=)
n.250+2481G=
16g.88427483C>GCA397057225ZNF469c.13C>G (p.Arg5Gly)
n.250+2481G>C
16g.88427483C>TCA397057231ZNF469c.13C>T (p.Arg5Cys)
n.250+2481G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427484G>ACA8224561ZNF469c.14G>A (p.Arg5His)
n.250+2480C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88427484G>CCA397057248ZNF469c.14G>C (p.Arg5Pro)
n.250+2480C>G
gnomAD v4
16g.88427484G=CA2241070016ZNF469c.14G= (p.Arg5=)
n.250+2480C=
16g.88427484G>TCA397057259ZNF469c.14G>T (p.Arg5Leu)
n.250+2480C>A
gnomAD v4
16g.88427484_88427485delinsGCCA2241070015ZNF469c.14_15delinsGC (p.Arg5=)
n.250+2479_250+2480delinsGC
16g.88427485C>ACA497342944ZNF469c.15C>A (p.Arg5=)
n.250+2479G>T
ClinVar
16g.88427485C>GCA497342943ZNF469c.15C>G (p.Arg5=)
n.250+2479G>C
16g.88427485C>TCA497342942ZNF469c.15C>T (p.Arg5=)
n.250+2479G>A
gnomAD v4
16g.88427489delCA2241070017ZNF469c.19del (p.Arg7GlufsTer8)
n.250+2479del
ClinVar dbSNP gnomAD v4
16g.88427486C>ACA397057266ZNF469c.16C>A (p.Pro6Thr)
n.250+2478G>T
16g.88427486C=CA2241070018ZNF469c.16C= (p.Pro6=)
n.250+2478G=
16g.88427486C>GCA397057264ZNF469c.16C>G (p.Pro6Ala)
n.250+2478G>C
16g.88427486C>TCA397057265ZNF469c.16C>T (p.Pro6Ser)
n.250+2478G>A
dbSNP gnomAD v4
16g.88427487C>ACA397057267ZNF469c.17C>A (p.Pro6His)
n.250+2477G>T
dbSNP gnomAD v2 gnomAD v4
16g.88427487C=CA2241070019ZNF469c.17C= (p.Pro6=)
n.250+2477G=
16g.88427487C>GCA397057268ZNF469c.17C>G (p.Pro6Arg)
n.250+2477G>C
gnomAD v4
16g.88427487C>TCA397057270ZNF469c.17C>T (p.Pro6Leu)
n.250+2477G>A
ClinVar gnomAD v4
16g.88427488C>ACA497342945ZNF469c.18C>A (p.Pro6=)
n.250+2476G>T
16g.88427488C=CA2241070020ZNF469c.18C= (p.Pro6=)
n.250+2476G=
16g.88427488C>GCA497342946ZNF469c.18C>G (p.Pro6=)
n.250+2476G>C
ClinVar dbSNP gnomAD v4
16g.88427488C>TCA497342947ZNF469c.18C>T (p.Pro6=)
n.250+2476G>A
16g.88427489C>ACA497342948ZNF469c.19C>A (p.Arg7=)
n.250+2475G>T
gnomAD v4
16g.88427489C=CA2241070021ZNF469c.19C= (p.Arg7=)
n.250+2475G=
16g.88427489C>GCA397057275ZNF469c.19C>G (p.Arg7Gly)
n.250+2475G>C
gnomAD v4
16g.88427489C>TCA16607117ZNF469c.19C>T (p.Arg7Ter)
n.250+2475G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427490G>ACA286371183ZNF469c.20G>A (p.Arg7Gln)
n.250+2474C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427490G>CCA397057298ZNF469c.20G>C (p.Arg7Pro)
n.250+2474C>G
gnomAD v4
16g.88427490G=CA2241070022ZNF469c.20G= (p.Arg7=)
n.250+2474C=
16g.88427490G>TCA397057301ZNF469c.20G>T (p.Arg7Leu)
n.250+2474C>A
gnomAD v4
16g.88427491A>CCA497342949ZNF469c.21A>C (p.Arg7=)
n.250+2473T>G
16g.88427491A>GCA497342950ZNF469c.21A>G (p.Arg7=)
n.250+2473T>C
16g.88427491A>TCA497342951ZNF469c.21A>T (p.Arg7=)
n.250+2473T>A
16g.88427492G>ACA397057320ZNF469c.22G>A (p.Gly8Arg)
n.250+2472C>T
gnomAD v4
16g.88427492G>CCA397057321ZNF469c.22G>C (p.Gly8Arg)
n.250+2472C>G
16g.88427492G>TCA397057322ZNF469c.22G>T (p.Gly8Ter)
n.250+2472C>A
16g.88427493G>ACA397057328ZNF469c.23G>A (p.Gly8Glu)
n.250+2471C>T
16g.88427493G>CCA397057332ZNF469c.23G>C (p.Gly8Ala)
n.250+2471C>G
16g.88427493G>TCA397057325ZNF469c.23G>T (p.Gly8Val)
n.250+2471C>A
16g.88427494A=CA2241070023ZNF469c.24A= (p.Gly8=)
n.250+2470T=
16g.88427494A>CCA497342952ZNF469c.24A>C (p.Gly8=)
n.250+2470T>G
gnomAD v4
16g.88427494A>GCA8224562ZNF469c.24A>G (p.Gly8=)
n.250+2470T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88427494A>TCA497342953ZNF469c.24A>T (p.Gly8=)
n.250+2470T>A
16g.88427495G>ACA397057359ZNF469c.25G>A (p.Ala9Thr)
n.250+2469C>T
dbSNP
16g.88427495G>CCA397057360ZNF469c.25G>C (p.Ala9Pro)
n.250+2469C>G
16g.88427495G=CA2241070024ZNF469c.25G= (p.Ala9=)
n.250+2469C=
16g.88427495G>TCA397057361ZNF469c.25G>T (p.Ala9Ser)
n.250+2469C>A
gnomAD v4
16g.88427496C>ACA397057362ZNF469c.26C>A (p.Ala9Glu)
n.250+2468G>T
gnomAD v4
16g.88427496C=CA2241070025ZNF469c.26C= (p.Ala9=)
n.250+2468G=
16g.88427496C>GCA397057367ZNF469c.26C>G (p.Ala9Gly)
n.250+2468G>C
gnomAD v4
16g.88427496C>TCA286371187ZNF469c.26C>T (p.Ala9Val)
n.250+2468G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427500_88427502delCA2634824086ZNF469c.30_32del (p.Pro11del)
n.250+2466_250+2468del
gnomAD v4
16g.88427497G>ACA286371189ZNF469c.27G>A (p.Ala9=)
n.250+2467C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427497G>CCA497342954ZNF469c.27G>C (p.Ala9=)
n.250+2467C>G
16g.88427497G=CA2241070026ZNF469c.27G= (p.Ala9=)
n.250+2467C=
16g.88427497G>TCA497342955ZNF469c.27G>T (p.Ala9=)
n.250+2467C>A
gnomAD v4
16g.88427498C>ACA397057388ZNF469c.28C>A (p.Pro10Thr)
n.250+2466G>T
16g.88427498C>GCA397057409ZNF469c.28C>G (p.Pro10Ala)
n.250+2466G>C
16g.88427498C>TCA397057391ZNF469c.28C>T (p.Pro10Ser)
n.250+2466G>A
gnomAD v4
16g.88427499C>ACA397057415ZNF469c.29C>A (p.Pro10Gln)
n.250+2465G>T
gnomAD v4
16g.88427499C=CA2241070027ZNF469c.29C= (p.Pro10=)
n.250+2465G=
16g.88427499C>GCA397057422ZNF469c.29C>G (p.Pro10Arg)
n.250+2465G>C
16g.88427499C>TCA286371196ZNF469c.29C>T (p.Pro10Leu)
n.250+2465G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427500G>ACA8224563ZNF469c.30G>A (p.Pro10=)
n.250+2464C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88427500G>CCA497342957ZNF469c.30G>C (p.Pro10=)
n.250+2464C>G
16g.88427500G=CA2241070029ZNF469c.30G= (p.Pro10=)
n.250+2464C=
16g.88427500G>TCA497342958ZNF469c.30G>T (p.Pro10=)
n.250+2464C>A
gnomAD v4
16g.88427500_88427501delinsGCCA2241070028ZNF469c.30_31delinsGC (p.Pro10=)
n.250+2463_250+2464delinsGC
16g.88427501C>ACA397057427ZNF469c.31C>A (p.Pro11Thr)
n.250+2463G>T
gnomAD v4
16g.88427501C=CA2241070030ZNF469c.31C= (p.Pro11=)
n.250+2463G=
16g.88427501C>GCA397057436ZNF469c.31C>G (p.Pro11Ala)
n.250+2463G>C
16g.88427501C>TCA286371211ZNF469c.31C>T (p.Pro11Ser)
n.250+2463G>A
dbSNP gnomAD v4
16g.88427506dupCA725561874ZNF469c.36dup (p.Thr13HisfsTer?)
n.250+2463dup
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88427506delCA624447567ZNF469c.36del (p.Thr13ProfsTer2)
n.250+2463del
dbSNP gnomAD v2 gnomAD v4
16g.88427505_88427506delCA2634824088ZNF469c.35_36del (p.Pro12HisfsTer?)
n.250+2462_250+2463del
gnomAD v4
16g.88427504_88427506delCA2634824087ZNF469c.34_36del (p.Pro12del)
n.250+2461_250+2463del
gnomAD v4
16g.88427502C>ACA397057440ZNF469c.32C>A (p.Pro11His)
n.250+2462G>T
dbSNP gnomAD v4
16g.88427502C=CA2241070031ZNF469c.32C= (p.Pro11=)
n.250+2462G=
16g.88427502C>GCA397057441ZNF469c.32C>G (p.Pro11Arg)
n.250+2462G>C
gnomAD v4
16g.88427502C>TCA397057442ZNF469c.32C>T (p.Pro11Leu)
n.250+2462G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427503C>ACA497342959ZNF469c.33C>A (p.Pro11=)
n.250+2461G>T
16g.88427503C>GCA497342960ZNF469c.33C>G (p.Pro11=)
n.250+2461G>C
16g.88427503C>TCA497342961ZNF469c.33C>T (p.Pro11=)
n.250+2461G>A
gnomAD v4
16g.88427504C>ACA397057443ZNF469c.34C>A (p.Pro12Thr)
n.250+2460G>T
16g.88427504C>GCA397057444ZNF469c.34C>G (p.Pro12Ala)
n.250+2460G>C
16g.88427504C>TCA397057449ZNF469c.34C>T (p.Pro12Ser)
n.250+2460G>A
16g.88427505C>ACA397057461ZNF469c.35C>A (p.Pro12His)
n.250+2459G>T
gnomAD v4
16g.88427505C>GCA397057465ZNF469c.35C>G (p.Pro12Arg)
n.250+2459G>C
gnomAD v4
16g.88427505C>TCA397057470ZNF469c.35C>T (p.Pro12Leu)
n.250+2459G>A
16g.88427506C>ACA8224564ZNF469c.36C>A (p.Pro12=)
n.250+2458G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88427506C=CA2241070032ZNF469c.36C= (p.Pro12=)
n.250+2458G=
16g.88427506C>GCA286371220ZNF469c.36C>G (p.Pro12=)
n.250+2458G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427506C>TCA497342962ZNF469c.36C>T (p.Pro12=)
n.250+2458G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427507A>CCA397057497ZNF469c.37A>C (p.Thr13Pro)
n.250+2457T>G
16g.88427507A>GCA397057495ZNF469c.37A>G (p.Thr13Ala)
n.250+2457T>C
16g.88427507A>TCA397057492ZNF469c.37A>T (p.Thr13Ser)
n.250+2457T>A
dbSNP
16g.88427507_88427508delinsACCA2241070033ZNF469c.37_38delinsAC (p.Thr13=)
n.250+2456_250+2457delinsGT
16g.88427508C>ACA397057502ZNF469c.38C>A (p.Thr13Asn)
n.250+2456G>T
16g.88427508C=CA2241070034ZNF469c.38C= (p.Thr13=)
n.250+2456G=
16g.88427508C>GCA397057514ZNF469c.38C>G (p.Thr13Ser)
n.250+2456G>C
gnomAD v4
16g.88427508C>TCA397057510ZNF469c.38C>T (p.Thr13Ile)
n.250+2456G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427509delCA624447568ZNF469c.39del (p.Met14Ter)
n.250+2456del
dbSNP gnomAD v2 gnomAD v4
16g.88427509C>ACA497342966ZNF469c.39C>A (p.Thr13=)
n.250+2455G>T
16g.88427509C>GCA497342964ZNF469c.39C>G (p.Thr13=)
n.250+2455G>C
COSMIC
16g.88427509C>TCA497342965ZNF469c.39C>T (p.Thr13=)
n.250+2455G>A
16g.88427509_88427511delCA2634824089ZNF469c.39_41del (p.Met14del)
n.250+2453_250+2455del
gnomAD v4
16g.88427510A=CA2241070035ZNF469c.40A= (p.Met14=)
n.250+2454T=
16g.88427510A>CCA397057520ZNF469c.40A>C (p.Met14Leu)
n.250+2454T>G
16g.88427510A>GCA397057530ZNF469c.40A>G (p.Met14Val)
n.250+2454T>C
dbSNP gnomAD v3 gnomAD v4
16g.88427510A>TCA397057525ZNF469c.40A>T (p.Met14Leu)
n.250+2454T>A
16g.88427511T>ACA397057533ZNF469c.41T>A (p.Met14Lys)
n.250+2453A>T
16g.88427511T>CCA397057540ZNF469c.41T>C (p.Met14Thr)
n.250+2453A>G
gnomAD v4
16g.88427511T>GCA397057535ZNF469c.41T>G (p.Met14Arg)
n.250+2453A>C
gnomAD v4
16g.88427512G>ACA397057545ZNF469c.42G>A (p.Met14Ile)
n.250+2452C>T
16g.88427512G>CCA397057548ZNF469c.42G>C (p.Met14Ile)
n.250+2452C>G
16g.88427512G>TCA397057551ZNF469c.42G>T (p.Met14Ile)
n.250+2452C>A
gnomAD v4
16g.88427513A>CCA397057556ZNF469c.43A>C (p.Thr15Pro)
n.250+2451T>G
16g.88427513A>GCA397057559ZNF469c.43A>G (p.Thr15Ala)
n.250+2451T>C
16g.88427513A>TCA397057562ZNF469c.43A>T (p.Thr15Ser)
n.250+2451T>A
16g.88427514C>ACA397057565ZNF469c.44C>A (p.Thr15Asn)
n.250+2450G>T
gnomAD v4
16g.88427514C>GCA397057568ZNF469c.44C>G (p.Thr15Ser)
n.250+2450G>C
16g.88427514C>TCA397057572ZNF469c.44C>T (p.Thr15Ile)
n.250+2450G>A
16g.88427515T>ACA497342967ZNF469c.45T>A (p.Thr15=)
n.250+2449A>T
16g.88427515T>CCA497342968ZNF469c.45T>C (p.Thr15=)
n.250+2449A>G
16g.88427515T>GCA497342969ZNF469c.45T>G (p.Thr15=)
n.250+2449A>C
16g.88427516G>ACA397057584ZNF469c.46G>A (p.Gly16Arg)
n.250+2448C>T
16g.88427516G>CCA397057582ZNF469c.46G>C (p.Gly16Arg)
n.250+2448C>G
16g.88427516G>TCA397057580ZNF469c.46G>T (p.Gly16Ter)
n.250+2448C>A
gnomAD v4
16g.88427517G>ACA397057590ZNF469c.47G>A (p.Gly16Glu)
n.250+2447C>T
gnomAD v4
16g.88427517G>CCA397057593ZNF469c.47G>C (p.Gly16Ala)
n.250+2447C>G
16g.88427517G>TCA397057597ZNF469c.47G>T (p.Gly16Val)
n.250+2447C>A
gnomAD v4
16g.88427518A>CCA497343258ZNF469c.48A>C (p.Gly16=)
n.250+2446T>G
16g.88427518A>GCA497343260ZNF469c.48A>G (p.Gly16=)
n.250+2446T>C
gnomAD v4
16g.88427518A>TCA497343261ZNF469c.48A>T (p.Gly16=)
n.250+2446T>A
gnomAD v4
16g.88427519G>ACA397057602ZNF469c.49G>A (p.Asp17Asn)
n.250+2445C>T
ClinVar gnomAD v4
16g.88427519G>CCA397057605ZNF469c.49G>C (p.Asp17His)
n.250+2445C>G
16g.88427519G>TCA397057609ZNF469c.49G>T (p.Asp17Tyr)
n.250+2445C>A
gnomAD v4
16g.88427520A>CCA397057615ZNF469c.50A>C (p.Asp17Ala)
n.250+2444T>G
16g.88427520A>GCA397057617ZNF469c.50A>G (p.Asp17Gly)
n.250+2444T>C
16g.88427520A>TCA397057620ZNF469c.50A>T (p.Asp17Val)
n.250+2444T>A
16g.88427521C>ACA397057623ZNF469c.51C>A (p.Asp17Glu)
n.250+2443G>T
16g.88427521C>GCA397057626ZNF469c.51C>G (p.Asp17Glu)
n.250+2443G>C
16g.88427521C>TCA497343263ZNF469c.51C>T (p.Asp17=)
n.250+2443G>A
ClinVar
16g.88427522C>ACA397057631ZNF469c.52C>A (p.Leu18Met)
n.250+2442G>T
gnomAD v4
16g.88427522C>GCA397057628ZNF469c.52C>G (p.Leu18Val)
n.250+2442G>C
16g.88427522C>TCA497343264ZNF469c.52C>T (p.Leu18=)
n.250+2442G>A
16g.88427523T>ACA397057636ZNF469c.53T>A (p.Leu18Gln)
n.250+2441A>T
16g.88427523T>CCA397057638ZNF469c.53T>C (p.Leu18Pro)
n.250+2441A>G
gnomAD v4
16g.88427523T>GCA397057639ZNF469c.53T>G (p.Leu18Arg)
n.250+2441A>C
16g.88427524G>ACA497343266ZNF469c.54G>A (p.Leu18=)
n.250+2440C>T
gnomAD v4
16g.88427524G>CCA497343267ZNF469c.54G>C (p.Leu18=)
n.250+2440C>G
gnomAD v4
16g.88427524G=CA2241070036ZNF469c.54G= (p.Leu18=)
n.250+2440C=
16g.88427524G>TCA8224565ZNF469c.54G>T (p.Leu18=)
n.250+2440C>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.88427525C>ACA397057641ZNF469c.55C>A (p.Gln19Lys)
n.250+2439G>T
gnomAD v4
16g.88427525C>GCA397057647ZNF469c.55C>G (p.Gln19Glu)
n.250+2439G>C
16g.88427525C>TCA397057650ZNF469c.55C>T (p.Gln19Ter)
n.250+2439G>A
gnomAD v4
16g.88427526A=CA2241070037ZNF469c.56A= (p.Gln19=)
n.250+2438T=
16g.88427526A>CCA397057654ZNF469c.56A>C (p.Gln19Pro)
n.250+2438T>G
dbSNP
16g.88427526A>GCA397057656ZNF469c.56A>G (p.Gln19Arg)
n.250+2438T>C
gnomAD v4
16g.88427526A>TCA397057658ZNF469c.56A>T (p.Gln19Leu)
n.250+2438T>A
16g.88427527G>ACA497343274ZNF469c.57G>A (p.Gln19=)
n.250+2437C>T
ClinVar gnomAD v4
16g.88427527G>CCA397057660ZNF469c.57G>C (p.Gln19His)
n.250+2437C>G
16g.88427527G>TCA397057663ZNF469c.57G>T (p.Gln19His)
n.250+2437C>A
gnomAD v4
16g.88427528C>ACA397057672ZNF469c.58C>A (p.Pro20Thr)
n.250+2436G>T
gnomAD v4
16g.88427528C=CA2241070038ZNF469c.58C= (p.Pro20=)
n.250+2436G=
16g.88427528C>GCA397057667ZNF469c.58C>G (p.Pro20Ala)
n.250+2436G>C
dbSNP gnomAD v4
16g.88427528C>TCA397057670ZNF469c.58C>T (p.Pro20Ser)
n.250+2436G>A
dbSNP gnomAD v4
16g.88427531delCA2634824090ZNF469c.61del (p.Arg21AlafsTer?)
n.250+2436del
ClinVar gnomAD v4
16g.88427529C>ACA397057676ZNF469c.59C>A (p.Pro20His)
n.250+2435G>T
16g.88427529C=CA2241070039ZNF469c.59C= (p.Pro20=)
n.250+2435G=
16g.88427529C>GCA397057678ZNF469c.59C>G (p.Pro20Arg)
n.250+2435G>C
16g.88427529C>TCA397057681ZNF469c.59C>T (p.Pro20Leu)
n.250+2435G>A
dbSNP gnomAD v2 gnomAD v4
16g.88427530C>ACA497343276ZNF469c.60C>A (p.Pro20=)
n.250+2434G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427530C=CA2241070040ZNF469c.60C= (p.Pro20=)
n.250+2434G=
16g.88427530C>GCA497343277ZNF469c.60C>G (p.Pro20=)
n.250+2434G>C
16g.88427530C>TCA497343278ZNF469c.60C>T (p.Pro20=)
n.250+2434G>A
gnomAD v4
16g.88427531C>ACA397057683ZNF469c.61C>A (p.Arg21Ser)
n.250+2433G>T
gnomAD v4
16g.88427531C=CA2241070041ZNF469c.61C= (p.Arg21=)
n.250+2433G=
16g.88427531C>GCA397057685ZNF469c.61C>G (p.Arg21Gly)
n.250+2433G>C
16g.88427531C>TCA8224566ZNF469c.61C>T (p.Arg21Cys)
n.250+2433G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88427532delCA2634824091ZNF469c.62del (p.Arg21ProfsTer?)
n.250+2432del
gnomAD v4
16g.88427532G>ACA8224567ZNF469c.62G>A (p.Arg21His)
n.250+2432C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88427532G>CCA397057694ZNF469c.62G>C (p.Arg21Pro)
n.250+2432C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427532G=CA2241070042ZNF469c.62G= (p.Arg21=)
n.250+2432C=
16g.88427532G>TCA286371242ZNF469c.62G>T (p.Arg21Leu)
n.250+2432C>A
dbSNP gnomAD v4
16g.88427533C>ACA497343281ZNF469c.63C>A (p.Arg21=)
n.250+2431G>T
gnomAD v4
16g.88427533C>GCA497343283ZNF469c.63C>G (p.Arg21=)
n.250+2431G>C
16g.88427533C>TCA497343284ZNF469c.63C>T (p.Arg21=)
n.250+2431G>A
16g.88427534C>ACA397057700ZNF469c.64C>A (p.Gln22Lys)
n.250+2430G>T
dbSNP gnomAD v4
16g.88427534C=CA2241070043ZNF469c.64C= (p.Gln22=)
n.250+2430G=
16g.88427534C>GCA397057702ZNF469c.64C>G (p.Gln22Glu)
n.250+2430G>C
16g.88427534C>TCA397057704ZNF469c.64C>T (p.Gln22Ter)
n.250+2430G>A
gnomAD v4
16g.88427535A>CCA397057708ZNF469c.65A>C (p.Gln22Pro)
n.250+2429T>G
16g.88427535A>GCA397057709ZNF469c.65A>G (p.Gln22Arg)
n.250+2429T>C
gnomAD v4
16g.88427535A>TCA397057707ZNF469c.65A>T (p.Gln22Leu)
n.250+2429T>A
16g.88427536A>CCA397057712ZNF469c.66A>C (p.Gln22His)
n.250+2428T>G
16g.88427536A>GCA497343291ZNF469c.66A>G (p.Gln22=)
n.250+2428T>C
gnomAD v4
16g.88427536A>TCA397057710ZNF469c.66A>T (p.Gln22His)
n.250+2428T>A
16g.88427537G>ACA397057715ZNF469c.67G>A (p.Val23Ile)
n.250+2427C>T
16g.88427537G>CCA397057717ZNF469c.67G>C (p.Val23Leu)
n.250+2427C>G
16g.88427537G>TCA397057720ZNF469c.67G>T (p.Val23Phe)
n.250+2427C>A
gnomAD v4
16g.88427538T>ACA397057724ZNF469c.68T>A (p.Val23Asp)
n.250+2426A>T
16g.88427538T>CCA397057727ZNF469c.68T>C (p.Val23Ala)
n.250+2426A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427538T>GCA397057729ZNF469c.68T>G (p.Val23Gly)
n.250+2426A>C
16g.88427538T=CA2241070044ZNF469c.68T= (p.Val23=)
n.250+2426A=
16g.88427539T>ACA497343295ZNF469c.69T>A (p.Val23=)
n.250+2425A>T
16g.88427539T>CCA497343296ZNF469c.69T>C (p.Val23=)
n.250+2425A>G
16g.88427539T>GCA497343297ZNF469c.69T>G (p.Val23=)
n.250+2425A>C
16g.88427540G>ACA397057734ZNF469c.70G>A (p.Ala24Thr)
n.250+2424C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427540G>CCA397057736ZNF469c.70G>C (p.Ala24Pro)
n.250+2424C>G
16g.88427540G=CA2241070045ZNF469c.70G= (p.Ala24=)
n.250+2424C=
16g.88427540G>TCA397057739ZNF469c.70G>T (p.Ala24Ser)
n.250+2424C>A
gnomAD v4
16g.88427541C>ACA397057744ZNF469c.71C>A (p.Ala24Asp)
n.250+2423G>T
16g.88427541C=CA2241070046ZNF469c.71C= (p.Ala24=)
n.250+2423G=
16g.88427541C>GCA397057747ZNF469c.71C>G (p.Ala24Gly)
n.250+2423G>C
16g.88427541C>TCA397057752ZNF469c.71C>T (p.Ala24Val)
n.250+2423G>A
dbSNP gnomAD v3 gnomAD v4
16g.88427542C>ACA497343302ZNF469c.72C>A (p.Ala24=)
n.250+2422G>T
gnomAD v4
16g.88427542C=CA2241070047ZNF469c.72C= (p.Ala24=)
n.250+2422G=
16g.88427542C>GCA497343303ZNF469c.72C>G (p.Ala24=)
n.250+2422G>C
16g.88427542C>TCA497343304ZNF469c.72C>T (p.Ala24=)
n.250+2422G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88427543A>CCA397057760ZNF469c.73A>C (p.Ser25Arg)
n.250+2421T>G
16g.88427543A>GCA397057767ZNF469c.73A>G (p.Ser25Gly)
n.250+2421T>C
gnomAD v4
16g.88427543A>TCA397057765ZNF469c.73A>T (p.Ser25Cys)
n.250+2421T>A
16g.88427544G>ACA397057772ZNF469c.74G>A (p.Ser25Asn)
n.250+2420C>T
gnomAD v4
16g.88427544G>CCA397057776ZNF469c.74G>C (p.Ser25Thr)
n.250+2420C>G
16g.88427544G>TCA397057779ZNF469c.74G>T (p.Ser25Ile)
n.250+2420C>A
gnomAD v4
16g.88427545C>ACA397057784ZNF469c.75C>A (p.Ser25Arg)
n.250+2419G>T
gnomAD v4
16g.88427545C>GCA397057787ZNF469c.75C>G (p.Ser25Arg)
n.250+2419G>C
16g.88427545C>TCA497343305ZNF469c.75C>T (p.Ser25=)
n.250+2419G>A
gnomAD v4
16g.88427546A>CCA397057788ZNF469c.76A>C (p.Ser26Arg)
n.250+2418T>G
16g.88427546A>GCA397057789ZNF469c.76A>G (p.Ser26Gly)
n.250+2418T>C
dbSNP
16g.88427546A>TCA397057792ZNF469c.76A>T (p.Ser26Cys)
n.250+2418T>A
16g.88427547G>ACA397057794ZNF469c.77G>A (p.Ser26Asn)
n.250+2417C>T
gnomAD v4
16g.88427547G>CCA151301ZNF469c.77G>C (p.Ser26Thr)
n.250+2417C>G
ClinVar dbSNP
16g.88427547G=CA2241070048ZNF469c.77G= (p.Ser26=)
n.250+2417C=
16g.88427547G>TCA397057807ZNF469c.77G>T (p.Ser26Ile)
n.250+2417C>A
gnomAD v4
16g.88427548C>ACA397057815ZNF469c.78C>A (p.Ser26Arg)
n.250+2416G>T
16g.88427548C>GCA397057812ZNF469c.78C>G (p.Ser26Arg)
n.250+2416G>C
16g.88427548C>TCA497343308ZNF469c.78C>T (p.Ser26=)
n.250+2416G>A
16g.88427550dupCA2697556086ZNF469c.80dup (p.His29AlafsTer?)
n.250+2416dup
ClinVar
16g.88427549C>ACA286371247ZNF469c.79C>A (p.Pro27Thr)
n.250+2415G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427549C=CA2241070049ZNF469c.79C= (p.Pro27=)
n.250+2415G=
16g.88427549C>GCA397057816ZNF469c.79C>G (p.Pro27Ala)
n.250+2415G>C
16g.88427549C>TCA397057817ZNF469c.79C>T (p.Pro27Ser)
n.250+2415G>A
16g.88427550C>ACA397057818ZNF469c.80C>A (p.Pro27Gln)
n.250+2414G>T
16g.88427550C=CA2241070051ZNF469c.80C= (p.Pro27=)
n.250+2414G=
16g.88427550C>GCA397057819ZNF469c.80C>G (p.Pro27Arg)
n.250+2414G>C
gnomAD v4
16g.88427550C>TCA16608299ZNF469c.80C>T (p.Pro27Leu)
n.250+2414G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427550_88427551delinsCGCA2241070050ZNF469c.80_81delinsCG (p.Pro27=)
n.250+2413_250+2414delinsCG
16g.88427551G>ACA10644456ZNF469c.81G>A (p.Pro27=)
n.250+2413C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88427551G>CCA497343311ZNF469c.81G>C (p.Pro27=)
n.250+2413C>G
dbSNP gnomAD v2
16g.88427551G=CA2241070053ZNF469c.81G= (p.Pro27=)
n.250+2413C=
16g.88427551G>TCA497343310ZNF469c.81G>T (p.Pro27=)
n.250+2413C>A
gnomAD v4
16g.88427554delCA2241070052ZNF469c.84del (p.His29ThrfsTer?)
n.250+2413del
dbSNP gnomAD v4
16g.88427552G>ACA397057820ZNF469c.82G>A (p.Gly28Arg)
n.250+2412C>T
16g.88427552G>CCA397057821ZNF469c.82G>C (p.Gly28Arg)
n.250+2412C>G
16g.88427552G>TCA397057822ZNF469c.82G>T (p.Gly28Trp)
n.250+2412C>A
gnomAD v4
16g.88427553G>ACA397057823ZNF469c.83G>A (p.Gly28Glu)
n.250+2411C>T
dbSNP
16g.88427553G>CCA397057824ZNF469c.83G>C (p.Gly28Ala)
n.250+2411C>G
16g.88427553G=CA2241070054ZNF469c.83G= (p.Gly28=)
n.250+2411C=
16g.88427553G>TCA397057825ZNF469c.83G>T (p.Gly28Val)
n.250+2411C>A
gnomAD v4
16g.88427554G>ACA497343314ZNF469c.84G>A (p.Gly28=)
n.250+2410C>T
gnomAD v4
16g.88427554G>CCA497343315ZNF469c.84G>C (p.Gly28=)
n.250+2410C>G
gnomAD v4
16g.88427554G>TCA497343316ZNF469c.84G>T (p.Gly28=)
n.250+2410C>A
gnomAD v4
16g.88427555C>ACA397057827ZNF469c.85C>A (p.His29Asn)
n.250+2409G>T
gnomAD v4
16g.88427555C>GCA397057828ZNF469c.85C>G (p.His29Asp)
n.250+2409G>C
16g.88427555C>TCA397057826ZNF469c.85C>T (p.His29Tyr)
n.250+2409G>A
gnomAD v4
16g.88427556delCA2634824092ZNF469c.86del (p.His29ProfsTer?)
n.250+2408del
gnomAD v4
16g.88427556A=CA2241070055ZNF469c.86A= (p.His29=)
n.250+2408T=
16g.88427556A>CCA397057829ZNF469c.86A>C (p.His29Pro)
n.250+2408T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88427556A>GCA397057830ZNF469c.86A>G (p.His29Arg)
n.250+2408T>C
16g.88427556A>TCA397057831ZNF469c.86A>T (p.His29Leu)
n.250+2408T>A
16g.88427557C>ACA397057832ZNF469c.87C>A (p.His29Gln)
n.250+2407G>T
16g.88427557C>GCA397057833ZNF469c.87C>G (p.His29Gln)
n.250+2407G>C
16g.88427557C>TCA497343317ZNF469c.87C>T (p.His29=)
n.250+2407G>A
gnomAD v4
16g.88427560dupCA2808055975ZNF469c.90dup (p.Ser31LeufsTer?)
n.250+2407dup
16g.88427560delCA2634824093ZNF469c.90del (p.Ser31ProfsTer?)
n.250+2407del
gnomAD v4
16g.88427558C>ACA397057837ZNF469c.88C>A (p.Pro30Thr)
n.250+2406G>T
gnomAD v4
16g.88427558C>GCA397057834ZNF469c.88C>G (p.Pro30Ala)
n.250+2406G>C
16g.88427558C>TCA397057835ZNF469c.88C>T (p.Pro30Ser)
n.250+2406G>A
gnomAD v4
16g.88427559C>ACA397057839ZNF469c.89C>A (p.Pro30His)
n.250+2405G>T
dbSNP gnomAD v2
16g.88427559C=CA2241070056ZNF469c.89C= (p.Pro30=)
n.250+2405G=
16g.88427559C>GCA397057840ZNF469c.89C>G (p.Pro30Arg)
n.250+2405G>C
16g.88427559C>TCA397057842ZNF469c.89C>T (p.Pro30Leu)
n.250+2405G>A
gnomAD v4
16g.88427560C>ACA497343321ZNF469c.90C>A (p.Pro30=)
n.250+2404G>T
gnomAD v4
16g.88427560C>GCA497343320ZNF469c.90C>G (p.Pro30=)
n.250+2404G>C
16g.88427560C>TCA497343319ZNF469c.90C>T (p.Pro30=)
n.250+2404G>A
ClinVar gnomAD v4
16g.88427561_88427562delCA2634824094ZNF469c.91_92del (p.Ser31ProfsTer?)
n.250+2403_250+2404del
gnomAD v4
16g.88427561T>ACA397057844ZNF469c.91T>A (p.Ser31Thr)
n.250+2403A>T
16g.88427561T>CCA397057845ZNF469c.91T>C (p.Ser31Pro)
n.250+2403A>G
dbSNP gnomAD v2 gnomAD v4
16g.88427561T>GCA397057846ZNF469c.91T>G (p.Ser31Ala)
n.250+2403A>C
16g.88427561T=CA2241070057ZNF469c.91T= (p.Ser31=)
n.250+2403A=

Number of alleles fetched