Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919605_74919607delCA8753906USH1Gc.1231_1233del (p.Glu411del)
c.*830_*832del (n.*830_*832del)
c.922_924del (p.Glu308del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919606C>ACA400961407USH1Gc.1230G>T (p.Gln410His)
c.*829G>T (n.*829G>T)
c.921G>T (p.Gln307His)
17g.74919606C=CA2275255170USH1Gc.1230G= (p.Gln410=)
c.*829G= (n.*829G=)
c.921G= (p.Gln307=)
17g.74919606C>GCA400961408USH1Gc.1230G>C (p.Gln410His)
c.*829G>C (n.*829G>C)
c.921G>C (p.Gln307His)
17g.74919606C>TCA8753908USH1Gc.1230G>A (p.Gln410=)
c.*829G>A (n.*829G>A)
c.921G>A (p.Gln307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919607T>ACA400961409USH1Gc.1229A>T (p.Gln410Leu)
c.*828A>T (n.*828A>T)
c.920A>T (p.Gln307Leu)
17g.74919607T>CCA400961410USH1Gc.1229A>G (p.Gln410Arg)
c.*828A>G (n.*828A>G)
c.920A>G (p.Gln307Arg)
 gnomAD v4
17g.74919607T>GCA400961411USH1Gc.1229A>C (p.Gln410Pro)
c.*828A>C (n.*828A>C)
c.920A>C (p.Gln307Pro)
17g.74919608G>ACA400961412USH1Gc.1228C>T (p.Gln410Ter)
c.*827C>T (n.*827C>T)
c.919C>T (p.Gln307Ter)
17g.74919608G>CCA400961413USH1Gc.1228C>G (p.Gln410Glu)
c.*827C>G (n.*827C>G)
c.919C>G (p.Gln307Glu)
17g.74919608G>TCA400961414USH1Gc.1228C>A (p.Gln410Lys)
c.*827C>A (n.*827C>A)
c.919C>A (p.Gln307Lys)
17g.74919609C>ACA502036529USH1Gc.1227G>T (p.Arg409=)
c.*826G>T (n.*826G>T)
c.918G>T (p.Arg306=)
17g.74919609C=CA2275255171USH1Gc.1227G= (p.Arg409=)
c.*826G= (n.*826G=)
c.918G= (p.Arg306=)
17g.74919609C>GCA502036530USH1Gc.1227G>C (p.Arg409=)
c.*826G>C (n.*826G>C)
c.918G>C (p.Arg306=)
17g.74919609C>TCA502036531USH1Gc.1227G>A (p.Arg409=)
c.*826G>A (n.*826G>A)
c.918G>A (p.Arg306=)
 dbSNP gnomAD v2
17g.74919610C>ACA400961415USH1Gc.1226G>T (p.Arg409Leu)
c.*825G>T (n.*825G>T)
c.917G>T (p.Arg306Leu)
 dbSNP
17g.74919610C=CA2275255172USH1Gc.1226G= (p.Arg409=)
c.*825G= (n.*825G=)
c.917G= (p.Arg306=)
17g.74919610C>GCA400961416USH1Gc.1226G>C (p.Arg409Pro)
c.*825G>C (n.*825G>C)
c.917G>C (p.Arg306Pro)
 gnomAD v4
17g.74919610C>TCA400961417USH1Gc.1226G>A (p.Arg409Gln)
c.*825G>A (n.*825G>A)
c.917G>A (p.Arg306Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919611G>ACA8753910USH1Gc.1225C>T (p.Arg409Trp)
c.*824C>T (n.*824C>T)
c.916C>T (p.Arg306Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919611G>CCA8753909USH1Gc.1225C>G (p.Arg409Gly)
c.*824C>G (n.*824C>G)
c.916C>G (p.Arg306Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919611G=CA2275255173USH1Gc.1225C= (p.Arg409=)
c.*824C= (n.*824C=)
c.916C= (p.Arg306=)
17g.74919611G>TCA502036538USH1Gc.1225C>A (p.Arg409=)
c.*824C>A (n.*824C>A)
c.916C>A (p.Arg306=)
17g.74919612C>ACA502036539USH1Gc.1224G>T (p.Leu408=)
c.*823G>T (n.*823G>T)
c.915G>T (p.Leu305=)
17g.74919612C>GCA502036540USH1Gc.1224G>C (p.Leu408=)
c.*823G>C (n.*823G>C)
c.915G>C (p.Leu305=)
17g.74919612C>TCA502036541USH1Gc.1224G>A (p.Leu408=)
c.*823G>A (n.*823G>A)
c.915G>A (p.Leu305=)
17g.74919613A>CCA400961418USH1Gc.1223T>G (p.Leu408Arg)
c.*822T>G (n.*822T>G)
c.914T>G (p.Leu305Arg)
17g.74919613A>GCA400961419USH1Gc.1223T>C (p.Leu408Pro)
c.*822T>C (n.*822T>C)
c.914T>C (p.Leu305Pro)
17g.74919613A>TCA400961420USH1Gc.1223T>A (p.Leu408Gln)
c.*822T>A (n.*822T>A)
c.914T>A (p.Leu305Gln)
17g.74919614G>ACA502036545USH1Gc.1222C>T (p.Leu408=)
c.*821C>T (n.*821C>T)
c.913C>T (p.Leu305=)
17g.74919614G>CCA400961421USH1Gc.1222C>G (p.Leu408Val)
c.*821C>G (n.*821C>G)
c.913C>G (p.Leu305Val)
17g.74919614G>TCA400961422USH1Gc.1222C>A (p.Leu408Met)
c.*821C>A (n.*821C>A)
c.913C>A (p.Leu305Met)
17g.74919615G>ACA502036547USH1Gc.1221C>T (p.Leu407=)
c.*820C>T (n.*820C>T)
c.912C>T (p.Leu304=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919615G>CCA8753911USH1Gc.1221C>G (p.Leu407=)
c.*820C>G (n.*820C>G)
c.912C>G (p.Leu304=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919615G=CA2275255174USH1Gc.1221C= (p.Leu407=)
c.*820C= (n.*820C=)
c.912C= (p.Leu304=)
17g.74919615G>TCA502036548USH1Gc.1221C>A (p.Leu407=)
c.*820C>A (n.*820C>A)
c.912C>A (p.Leu304=)
 gnomAD v4
17g.74919616A=CA2275255175USH1Gc.1220T= (p.Leu407=)
c.*819T= (n.*819T=)
c.911T= (p.Leu304=)
17g.74919616A>CCA400961423USH1Gc.1220T>G (p.Leu407Arg)
c.*819T>G (n.*819T>G)
c.911T>G (p.Leu304Arg)
 ClinVar dbSNP
17g.74919616A>GCA400961424USH1Gc.1220T>C (p.Leu407Pro)
c.*819T>C (n.*819T>C)
c.911T>C (p.Leu304Pro)
17g.74919616A>TCA400961425USH1Gc.1220T>A (p.Leu407His)
c.*819T>A (n.*819T>A)
c.911T>A (p.Leu304His)
17g.74919617G>ACA400961426USH1Gc.1219C>T (p.Leu407Phe)
c.*818C>T (n.*818C>T)
c.910C>T (p.Leu304Phe)
 ClinVar dbSNP
17g.74919617G>CCA400961427USH1Gc.1219C>G (p.Leu407Val)
c.*818C>G (n.*818C>G)
c.910C>G (p.Leu304Val)
 dbSNP gnomAD v4
17g.74919617G=CA2275255176USH1Gc.1219C= (p.Leu407=)
c.*818C= (n.*818C=)
c.910C= (p.Leu304=)
17g.74919617G>TCA400961428USH1Gc.1219C>A (p.Leu407Ile)
c.*818C>A (n.*818C>A)
c.910C>A (p.Leu304Ile)
17g.74919618G>ACA502036553USH1Gc.1218C>T (p.Ala406=)
c.*817C>T (n.*817C>T)
c.909C>T (p.Ala303=)
 ClinVar gnomAD v4
17g.74919618G>CCA502036555USH1Gc.1218C>G (p.Ala406=)
c.*817C>G (n.*817C>G)
c.909C>G (p.Ala303=)
17g.74919618G>TCA502036557USH1Gc.1218C>A (p.Ala406=)
c.*817C>A (n.*817C>A)
c.909C>A (p.Ala303=)
 gnomAD v4
17g.74919619G>ACA400961431USH1Gc.1217C>T (p.Ala406Val)
c.*816C>T (n.*816C>T)
c.908C>T (p.Ala303Val)
17g.74919619G>CCA400961429USH1Gc.1217C>G (p.Ala406Gly)
c.*816C>G (n.*816C>G)
c.908C>G (p.Ala303Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919619G=CA2275255177USH1Gc.1217C= (p.Ala406=)
c.*816C= (n.*816C=)
c.908C= (p.Ala303=)
17g.74919619G>TCA400961430USH1Gc.1217C>A (p.Ala406Asp)
c.*816C>A (n.*816C>A)
c.908C>A (p.Ala303Asp)
17g.74919620C>ACA400961432USH1Gc.1216G>T (p.Ala406Ser)
c.*815G>T (n.*815G>T)
c.907G>T (p.Ala303Ser)
17g.74919620C=CA2275255178USH1Gc.1216G= (p.Ala406=)
c.*815G= (n.*815G=)
c.907G= (p.Ala303=)
17g.74919620C>GCA400961433USH1Gc.1216G>C (p.Ala406Pro)
c.*815G>C (n.*815G>C)
c.907G>C (p.Ala303Pro)
17g.74919620C>TCA400961434USH1Gc.1216G>A (p.Ala406Thr)
c.*815G>A (n.*815G>A)
c.907G>A (p.Ala303Thr)
 dbSNP
17g.74919621G>ACA8753912USH1Gc.1215C>T (p.Ala405=)
c.*814C>T (n.*814C>T)
c.906C>T (p.Ala302=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919621G>CCA502036564USH1Gc.1215C>G (p.Ala405=)
c.*814C>G (n.*814C>G)
c.906C>G (p.Ala302=)
17g.74919621G=CA2275255179USH1Gc.1215C= (p.Ala405=)
c.*814C= (n.*814C=)
c.906C= (p.Ala302=)
17g.74919621G>TCA502036565USH1Gc.1215C>A (p.Ala405=)
c.*814C>A (n.*814C>A)
c.906C>A (p.Ala302=)
17g.74919622G>ACA293983510USH1Gc.1214C>T (p.Ala405Val)
c.*813C>T (n.*813C>T)
c.905C>T (p.Ala302Val)
 dbSNP
17g.74919622G>CCA400961435USH1Gc.1214C>G (p.Ala405Gly)
c.*813C>G (n.*813C>G)
c.905C>G (p.Ala302Gly)
17g.74919622G=CA2275255180USH1Gc.1214C= (p.Ala405=)
c.*813C= (n.*813C=)
c.905C= (p.Ala302=)
17g.74919622G>TCA400961436USH1Gc.1214C>A (p.Ala405Asp)
c.*813C>A (n.*813C>A)
c.905C>A (p.Ala302Asp)
17g.74919623C>ACA400961437USH1Gc.1213G>T (p.Ala405Ser)
c.*812G>T (n.*812G>T)
c.904G>T (p.Ala302Ser)
17g.74919623C>GCA400961438USH1Gc.1213G>C (p.Ala405Pro)
c.*812G>C (n.*812G>C)
c.904G>C (p.Ala302Pro)
17g.74919623C>TCA400961439USH1Gc.1213G>A (p.Ala405Thr)
c.*812G>A (n.*812G>A)
c.904G>A (p.Ala302Thr)
17g.74919624A>CCA400961440USH1Gc.1212T>G (p.Phe404Leu)
c.*811T>G (n.*811T>G)
c.903T>G (p.Phe301Leu)
17g.74919624A>GCA502036572USH1Gc.1212T>C (p.Phe404=)
c.*811T>C (n.*811T>C)
c.903T>C (p.Phe301=)
 gnomAD v4
17g.74919624A>TCA400961441USH1Gc.1212T>A (p.Phe404Leu)
c.*811T>A (n.*811T>A)
c.903T>A (p.Phe301Leu)
17g.74919625A>CCA400961443USH1Gc.1211T>G (p.Phe404Cys)
c.*810T>G (n.*810T>G)
c.902T>G (p.Phe301Cys)
17g.74919625A>GCA400961444USH1Gc.1211T>C (p.Phe404Ser)
c.*810T>C (n.*810T>C)
c.902T>C (p.Phe301Ser)
17g.74919625A>TCA400961442USH1Gc.1211T>A (p.Phe404Tyr)
c.*810T>A (n.*810T>A)
c.902T>A (p.Phe301Tyr)
17g.74919626A>CCA400961447USH1Gc.1210T>G (p.Phe404Val)
c.*809T>G (n.*809T>G)
c.901T>G (p.Phe301Val)
17g.74919626A>GCA400961445USH1Gc.1210T>C (p.Phe404Leu)
c.*809T>C (n.*809T>C)
c.901T>C (p.Phe301Leu)
17g.74919626A>TCA400961446USH1Gc.1210T>A (p.Phe404Ile)
c.*809T>A (n.*809T>A)
c.901T>A (p.Phe301Ile)
17g.74919627G>ACA502036577USH1Gc.1209C>T (p.Asp403=)
c.*808C>T (n.*808C>T)
c.900C>T (p.Asp300=)
17g.74919627G>CCA400961448USH1Gc.1209C>G (p.Asp403Glu)
c.*808C>G (n.*808C>G)
c.900C>G (p.Asp300Glu)
17g.74919627G>TCA400961449USH1Gc.1209C>A (p.Asp403Glu)
c.*808C>A (n.*808C>A)
c.900C>A (p.Asp300Glu)
17g.74919628T>ACA400961450USH1Gc.1208A>T (p.Asp403Val)
c.*807A>T (n.*807A>T)
c.899A>T (p.Asp300Val)
17g.74919628T>CCA293983513USH1Gc.1208A>G (p.Asp403Gly)
c.*807A>G (n.*807A>G)
c.899A>G (p.Asp300Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919628T>GCA400961451USH1Gc.1208A>C (p.Asp403Ala)
c.*807A>C (n.*807A>C)
c.899A>C (p.Asp300Ala)
17g.74919628T=CA2275255181USH1Gc.1208A= (p.Asp403=)
c.*807A= (n.*807A=)
c.899A= (p.Asp300=)
17g.74919629C>ACA400961452USH1Gc.1207G>T (p.Asp403Tyr)
c.*806G>T (n.*806G>T)
c.898G>T (p.Asp300Tyr)
17g.74919629C=CA2275255182USH1Gc.1207G= (p.Asp403=)
c.*806G= (n.*806G=)
c.898G= (p.Asp300=)
17g.74919629C>GCA400961453USH1Gc.1207G>C (p.Asp403His)
c.*806G>C (n.*806G>C)
c.898G>C (p.Asp300His)
17g.74919629C>TCA8753913USH1Gc.1207G>A (p.Asp403Asn)
c.*806G>A (n.*806G>A)
c.898G>A (p.Asp300Asn)
 dbSNP ExAC gnomAD v2
17g.74919630C>ACA400961454USH1Gc.1206G>T (p.Glu402Asp)
c.*805G>T (n.*805G>T)
c.897G>T (p.Glu299Asp)
17g.74919630C=CA2275255183USH1Gc.1206G= (p.Glu402=)
c.*805G= (n.*805G=)
c.897G= (p.Glu299=)
17g.74919630C>GCA400961455USH1Gc.1206G>C (p.Glu402Asp)
c.*805G>C (n.*805G>C)
c.897G>C (p.Glu299Asp)
17g.74919630C>TCA8753914USH1Gc.1206G>A (p.Glu402=)
c.*805G>A (n.*805G>A)
c.897G>A (p.Glu299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919631T>ACA400961458USH1Gc.1205A>T (p.Glu402Val)
c.*804A>T (n.*804A>T)
c.896A>T (p.Glu299Val)
17g.74919631T>CCA400961456USH1Gc.1205A>G (p.Glu402Gly)
c.*804A>G (n.*804A>G)
c.896A>G (p.Glu299Gly)
17g.74919631T>GCA400961457USH1Gc.1205A>C (p.Glu402Ala)
c.*804A>C (n.*804A>C)
c.896A>C (p.Glu299Ala)
17g.74919632C>ACA400961459USH1Gc.1204G>T (p.Glu402Ter)
c.*803G>T (n.*803G>T)
c.895G>T (p.Glu299Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.74919632C=CA2275255184USH1Gc.1204G= (p.Glu402=)
c.*803G= (n.*803G=)
c.895G= (p.Glu299=)
17g.74919632C>GCA400961460USH1Gc.1204G>C (p.Glu402Gln)
c.*803G>C (n.*803G>C)
c.895G>C (p.Glu299Gln)
17g.74919632C>TCA400961461USH1Gc.1204G>A (p.Glu402Lys)
c.*803G>A (n.*803G>A)
c.895G>A (p.Glu299Lys)
 COSMIC
17g.74919633C>ACA400961462USH1Gc.1203G>T (p.Met401Ile)
c.*802G>T (n.*802G>T)
c.894G>T (p.Met298Ile)
17g.74919633C=CA2275255185USH1Gc.1203G= (p.Met401=)
c.*802G= (n.*802G=)
c.894G= (p.Met298=)
17g.74919633C>GCA400961463USH1Gc.1203G>C (p.Met401Ile)
c.*802G>C (n.*802G>C)
c.894G>C (p.Met298Ile)
17g.74919633C>TCA8753915USH1Gc.1203G>A (p.Met401Ile)
c.*802G>A (n.*802G>A)
c.894G>A (p.Met298Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919634A=CA2275255186USH1Gc.1202T= (p.Met401=)
c.*801T= (n.*801T=)
c.893T= (p.Met298=)
17g.74919634A>CCA400961464USH1Gc.1202T>G (p.Met401Arg)
c.*801T>G (n.*801T>G)
c.893T>G (p.Met298Arg)
17g.74919634A>GCA8753916USH1Gc.1202T>C (p.Met401Thr)
c.*801T>C (n.*801T>C)
c.893T>C (p.Met298Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919634A>TCA400961465USH1Gc.1202T>A (p.Met401Lys)
c.*801T>A (n.*801T>A)
c.893T>A (p.Met298Lys)
17g.74919635T>ACA400961466USH1Gc.1201A>T (p.Met401Leu)
c.*800A>T (n.*800A>T)
c.892A>T (p.Met298Leu)
 gnomAD v4
17g.74919635T>CCA293983547USH1Gc.1201A>G (p.Met401Val)
c.*800A>G (n.*800A>G)
c.892A>G (p.Met298Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919635T>GCA400961467USH1Gc.1201A>C (p.Met401Leu)
c.*800A>C (n.*800A>C)
c.892A>C (p.Met298Leu)
 gnomAD v4
17g.74919635T=CA2275255187USH1Gc.1201A= (p.Met401=)
c.*800A= (n.*800A=)
c.892A= (p.Met298=)
17g.74919636G>ACA502036593USH1Gc.1200C>T (p.His400=)
c.*799C>T (n.*799C>T)
c.891C>T (p.His297=)
 ClinVar dbSNP
17g.74919636G>CCA400961468USH1Gc.1200C>G (p.His400Gln)
c.*799C>G (n.*799C>G)
c.891C>G (p.His297Gln)
17g.74919636G>TCA400961469USH1Gc.1200C>A (p.His400Gln)
c.*799C>A (n.*799C>A)
c.891C>A (p.His297Gln)
17g.74919637T>ACA400961470USH1Gc.1199A>T (p.His400Leu)
c.*798A>T (n.*798A>T)
c.890A>T (p.His297Leu)
17g.74919637T>CCA8753917USH1Gc.1199A>G (p.His400Arg)
c.*798A>G (n.*798A>G)
c.890A>G (p.His297Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919637T>GCA400961471USH1Gc.1199A>C (p.His400Pro)
c.*798A>C (n.*798A>C)
c.890A>C (p.His297Pro)
17g.74919637T=CA2275255188USH1Gc.1199A= (p.His400=)
c.*798A= (n.*798A=)
c.890A= (p.His297=)
17g.74919638G>ACA400961472USH1Gc.1198C>T (p.His400Tyr)
c.*797C>T (n.*797C>T)
c.889C>T (p.His297Tyr)
 gnomAD v4
17g.74919638G>CCA400961473USH1Gc.1198C>G (p.His400Asp)
c.*797C>G (n.*797C>G)
c.889C>G (p.His297Asp)
17g.74919638G>TCA400961474USH1Gc.1198C>A (p.His400Asn)
c.*797C>A (n.*797C>A)
c.889C>A (p.His297Asn)
17g.74919639C>ACA502036596USH1Gc.1197G>T (p.Leu399=)
c.*796G>T (n.*796G>T)
c.888G>T (p.Leu296=)
17g.74919639C>GCA502036597USH1Gc.1197G>C (p.Leu399=)
c.*796G>C (n.*796G>C)
c.888G>C (p.Leu296=)
17g.74919639C>TCA502036598USH1Gc.1197G>A (p.Leu399=)
c.*796G>A (n.*796G>A)
c.888G>A (p.Leu296=)
17g.74919639_74919641delinsCAGCA2275255189USH1Gc.1195_1197delinsCTG (p.Leu399=)
c.*794_*796delinsCTG (n.*794_*796delinsCTG)
c.886_888delinsCTG (p.Leu296=)
17g.74919640A>CCA400961477USH1Gc.1196T>G (p.Leu399Arg)
c.*795T>G (n.*795T>G)
c.887T>G (p.Leu296Arg)
17g.74919640A>GCA400961475USH1Gc.1196T>C (p.Leu399Pro)
c.*795T>C (n.*795T>C)
c.887T>C (p.Leu296Pro)
 dbSNP
17g.74919640A>TCA400961476USH1Gc.1196T>A (p.Leu399Gln)
c.*795T>A (n.*795T>A)
c.887T>A (p.Leu296Gln)
17g.74919644_74919645delCA986277536USH1Gc.1195_1196del (p.Leu399AlafsTer24)
c.*794_*795del (n.*794_*795del)
c.886_887del (p.Leu296AlafsTer24)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919641G>ACA502036600USH1Gc.1195C>T (p.Leu399=)
c.*794C>T (n.*794C>T)
c.886C>T (p.Leu296=)
 gnomAD v4
17g.74919641G>CCA400961478USH1Gc.1195C>G (p.Leu399Val)
c.*794C>G (n.*794C>G)
c.886C>G (p.Leu296Val)
17g.74919641G>TCA400961479USH1Gc.1195C>A (p.Leu399Met)
c.*794C>A (n.*794C>A)
c.886C>A (p.Leu296Met)
17g.74919642A>CCA502036601USH1Gc.1194T>G (p.Ser398=)
c.*793T>G (n.*793T>G)
c.885T>G (p.Ser295=)
17g.74919642A>GCA502036602USH1Gc.1194T>C (p.Ser398=)
c.*793T>C (n.*793T>C)
c.885T>C (p.Ser295=)
17g.74919642A>TCA502036604USH1Gc.1194T>A (p.Ser398=)
c.*793T>A (n.*793T>A)
c.885T>A (p.Ser295=)
17g.74919643G>ACA400961480USH1Gc.1193C>T (p.Ser398Phe)
c.*792C>T (n.*792C>T)
c.884C>T (p.Ser295Phe)
 gnomAD v4
17g.74919643G>CCA400961481USH1Gc.1193C>G (p.Ser398Cys)
c.*792C>G (n.*792C>G)
c.884C>G (p.Ser295Cys)
 gnomAD v4
17g.74919643G>TCA400961482USH1Gc.1193C>A (p.Ser398Tyr)
c.*792C>A (n.*792C>A)
c.884C>A (p.Ser295Tyr)
17g.74919644A>CCA400961483USH1Gc.1192T>G (p.Ser398Ala)
c.*791T>G (n.*791T>G)
c.883T>G (p.Ser295Ala)
17g.74919644A>GCA400961485USH1Gc.1192T>C (p.Ser398Pro)
c.*791T>C (n.*791T>C)
c.883T>C (p.Ser295Pro)
17g.74919644A>TCA400961484USH1Gc.1192T>A (p.Ser398Thr)
c.*791T>A (n.*791T>A)
c.883T>A (p.Ser295Thr)
17g.74919645G>ACA293983551USH1Gc.1191C>T (p.Ala397=)
c.*790C>T (n.*790C>T)
c.882C>T (p.Ala294=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919645G>CCA502036609USH1Gc.1191C>G (p.Ala397=)
c.*790C>G (n.*790C>G)
c.882C>G (p.Ala294=)
17g.74919645G=CA2275255190USH1Gc.1191C= (p.Ala397=)
c.*790C= (n.*790C=)
c.882C= (p.Ala294=)
17g.74919645G>TCA502036608USH1Gc.1191C>A (p.Ala397=)
c.*790C>A (n.*790C>A)
c.882C>A (p.Ala294=)
17g.74919646G>ACA400961486USH1Gc.1190C>T (p.Ala397Val)
c.*789C>T (n.*789C>T)
c.881C>T (p.Ala294Val)
 dbSNP
17g.74919646G>CCA400961487USH1Gc.1190C>G (p.Ala397Gly)
c.*789C>G (n.*789C>G)
c.881C>G (p.Ala294Gly)
17g.74919646G=CA2275255191USH1Gc.1190C= (p.Ala397=)
c.*789C= (n.*789C=)
c.881C= (p.Ala294=)
17g.74919646G>TCA400961488USH1Gc.1190C>A (p.Ala397Asp)
c.*789C>A (n.*789C>A)
c.881C>A (p.Ala294Asp)
17g.74919646_74919648delCA1139655064USH1Gc.1188_1190del (p.Ala397del)
c.*787_*789del (n.*787_*789del)
c.879_881del (p.Ala294del)
17g.74919647C>ACA400961489USH1Gc.1189G>T (p.Ala397Ser)
c.*788G>T (n.*788G>T)
c.880G>T (p.Ala294Ser)
17g.74919647C>GCA400961490USH1Gc.1189G>C (p.Ala397Pro)
c.*788G>C (n.*788G>C)
c.880G>C (p.Ala294Pro)
17g.74919647C>TCA400961491USH1Gc.1189G>A (p.Ala397Thr)
c.*788G>A (n.*788G>A)
c.880G>A (p.Ala294Thr)
17g.74919648C>ACA502036615USH1Gc.1188G>T (p.Leu396=)
c.*787G>T (n.*787G>T)
c.879G>T (p.Leu293=)
17g.74919648C>GCA502036616USH1Gc.1188G>C (p.Leu396=)
c.*787G>C (n.*787G>C)
c.879G>C (p.Leu293=)
17g.74919648C>TCA502036617USH1Gc.1188G>A (p.Leu396=)
c.*787G>A (n.*787G>A)
c.879G>A (p.Leu293=)
17g.74919649A=CA2275255192USH1Gc.1187T= (p.Leu396=)
c.*786T= (n.*786T=)
c.878T= (p.Leu293=)
17g.74919649A>CCA400961492USH1Gc.1187T>G (p.Leu396Arg)
c.*786T>G (n.*786T>G)
c.878T>G (p.Leu293Arg)
17g.74919649A>GCA400961493USH1Gc.1187T>C (p.Leu396Pro)
c.*786T>C (n.*786T>C)
c.878T>C (p.Leu293Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919649A>TCA400961494USH1Gc.1187T>A (p.Leu396Gln)
c.*786T>A (n.*786T>A)
c.878T>A (p.Leu293Gln)
 dbSNP
17g.74919650G>ACA502036620USH1Gc.1186C>T (p.Leu396=)
c.*785C>T (n.*785C>T)
c.877C>T (p.Leu293=)
17g.74919650G>CCA400961495USH1Gc.1186C>G (p.Leu396Val)
c.*785C>G (n.*785C>G)
c.877C>G (p.Leu293Val)
17g.74919650G>TCA400961496USH1Gc.1186C>A (p.Leu396Met)
c.*785C>A (n.*785C>A)
c.877C>A (p.Leu293Met)
17g.74919651delCA2639747140USH1Gc.1186del (p.Leu396TrpfsTer23)
c.*785del (n.*785del)
c.877del (p.Leu293TrpfsTer23)
 gnomAD v4
17g.74919651G>ACA502036621USH1Gc.1185C>T (p.Phe395=)
c.*784C>T (n.*784C>T)
c.876C>T (p.Phe292=)
17g.74919651G>CCA400961498USH1Gc.1185C>G (p.Phe395Leu)
c.*784C>G (n.*784C>G)
c.876C>G (p.Phe292Leu)
17g.74919651G>TCA400961497USH1Gc.1185C>A (p.Phe395Leu)
c.*784C>A (n.*784C>A)
c.876C>A (p.Phe292Leu)
17g.74919652A>CCA400961499USH1Gc.1184T>G (p.Phe395Cys)
c.*783T>G (n.*783T>G)
c.875T>G (p.Phe292Cys)
17g.74919652A>GCA400961501USH1Gc.1184T>C (p.Phe395Ser)
c.*783T>C (n.*783T>C)
c.875T>C (p.Phe292Ser)
17g.74919652A>TCA400961500USH1Gc.1184T>A (p.Phe395Tyr)
c.*783T>A (n.*783T>A)
c.875T>A (p.Phe292Tyr)
17g.74919653A>CCA400961502USH1Gc.1183T>G (p.Phe395Val)
c.*782T>G (n.*782T>G)
c.874T>G (p.Phe292Val)
17g.74919653A>GCA400961503USH1Gc.1183T>C (p.Phe395Leu)
c.*782T>C (n.*782T>C)
c.874T>C (p.Phe292Leu)
17g.74919653A>TCA400961504USH1Gc.1183T>A (p.Phe395Ile)
c.*782T>A (n.*782T>A)
c.874T>A (p.Phe292Ile)
17g.74919654G>ACA502036624USH1Gc.1182C>T (p.Thr394=)
c.*781C>T (n.*781C>T)
c.873C>T (p.Thr291=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919654G>CCA502036625USH1Gc.1182C>G (p.Thr394=)
c.*781C>G (n.*781C>G)
c.873C>G (p.Thr291=)
17g.74919654G=CA2275255193USH1Gc.1182C= (p.Thr394=)
c.*781C= (n.*781C=)
c.873C= (p.Thr291=)
17g.74919654G>TCA502036626USH1Gc.1182C>A (p.Thr394=)
c.*781C>A (n.*781C>A)
c.873C>A (p.Thr291=)
17g.74919655G>ACA400961505USH1Gc.1181C>T (p.Thr394Ile)
c.*780C>T (n.*780C>T)
c.872C>T (p.Thr291Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919655G>CCA400961506USH1Gc.1181C>G (p.Thr394Ser)
c.*780C>G (n.*780C>G)
c.872C>G (p.Thr291Ser)
17g.74919655G=CA2275255194USH1Gc.1181C= (p.Thr394=)
c.*780C= (n.*780C=)
c.872C= (p.Thr291=)
17g.74919655G>TCA400961507USH1Gc.1181C>A (p.Thr394Asn)
c.*780C>A (n.*780C>A)
c.872C>A (p.Thr291Asn)
17g.74919656T>ACA400961510USH1Gc.1180A>T (p.Thr394Ser)
c.*779A>T (n.*779A>T)
c.871A>T (p.Thr291Ser)
17g.74919656T>CCA400961508USH1Gc.1180A>G (p.Thr394Ala)
c.*779A>G (n.*779A>G)
c.871A>G (p.Thr291Ala)
 gnomAD v4
17g.74919656T>GCA400961509USH1Gc.1180A>C (p.Thr394Pro)
c.*779A>C (n.*779A>C)
c.871A>C (p.Thr291Pro)
17g.74919657C>ACA8753918USH1Gc.1179G>T (p.Glu393Asp)
c.*778G>T (n.*778G>T)
c.870G>T (p.Glu290Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919657C=CA2275255195USH1Gc.1179G= (p.Glu393=)
c.*778G= (n.*778G=)
c.870G= (p.Glu290=)
17g.74919657C>GCA400961511USH1Gc.1179G>C (p.Glu393Asp)
c.*778G>C (n.*778G>C)
c.870G>C (p.Glu290Asp)
17g.74919657C>TCA502036637USH1Gc.1179G>A (p.Glu393=)
c.*778G>A (n.*778G>A)
c.870G>A (p.Glu290=)
 dbSNP gnomAD v2
17g.74919658T>ACA400961512USH1Gc.1178A>T (p.Glu393Val)
c.*777A>T (n.*777A>T)
c.869A>T (p.Glu290Val)
17g.74919658T>CCA400961513USH1Gc.1178A>G (p.Glu393Gly)
c.*777A>G (n.*777A>G)
c.869A>G (p.Glu290Gly)
 gnomAD v4
17g.74919658T>GCA400961514USH1Gc.1178A>C (p.Glu393Ala)
c.*777A>C (n.*777A>C)
c.869A>C (p.Glu290Ala)
17g.74919659C>ACA400961517USH1Gc.1177G>T (p.Glu393Ter)
c.*776G>T (n.*776G>T)
c.868G>T (p.Glu290Ter)
17g.74919659C>GCA400961515USH1Gc.1177G>C (p.Glu393Gln)
c.*776G>C (n.*776G>C)
c.868G>C (p.Glu290Gln)
17g.74919659C>TCA400961516USH1Gc.1177G>A (p.Glu393Lys)
c.*776G>A (n.*776G>A)
c.868G>A (p.Glu290Lys)
17g.74919660C>ACA502036640USH1Gc.1176G>T (p.Leu392=)
c.*775G>T (n.*775G>T)
c.867G>T (p.Leu289=)
17g.74919660C>GCA502036641USH1Gc.1176G>C (p.Leu392=)
c.*775G>C (n.*775G>C)
c.867G>C (p.Leu289=)
17g.74919660C>TCA502036642USH1Gc.1176G>A (p.Leu392=)
c.*775G>A (n.*775G>A)
c.867G>A (p.Leu289=)
17g.74919660_74919661insTCA2576383326USH1Gc.1175_1176insA (p.Glu393GlyfsTer?)
c.*774_*775insA (n.*774_*775insA)
c.866_867insA (p.Glu290GlyfsTer?)
 gnomAD v4
17g.74919661A>CCA400961518USH1Gc.1175T>G (p.Leu392Arg)
c.*774T>G (n.*774T>G)
c.866T>G (p.Leu289Arg)
17g.74919661A>GCA400961519USH1Gc.1175T>C (p.Leu392Pro)
c.*774T>C (n.*774T>C)
c.866T>C (p.Leu289Pro)
17g.74919661A>TCA400961520USH1Gc.1175T>A (p.Leu392Gln)
c.*774T>A (n.*774T>A)
c.866T>A (p.Leu289Gln)
 gnomAD v4
17g.74919661_74919662delinsAGCA2275255196USH1Gc.1174_1175delinsCT (p.Leu392=)
c.*773_*774delinsCT (n.*773_*774delinsCT)
c.865_866delinsCT (p.Leu289=)
17g.74919662delCA2275255197USH1Gc.1174del (p.Leu392TrpfsTer27)
c.*773del (n.*773del)
c.865del (p.Leu289TrpfsTer27)
 dbSNP
17g.74919662G>ACA8753919USH1Gc.1174C>T (p.Leu392=)
c.*773C>T (n.*773C>T)
c.865C>T (p.Leu289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919662G>CCA400961521USH1Gc.1174C>G (p.Leu392Val)
c.*773C>G (n.*773C>G)
c.865C>G (p.Leu289Val)
17g.74919662G=CA2275255198USH1Gc.1174C= (p.Leu392=)
c.*773C= (n.*773C=)
c.865C= (p.Leu289=)
17g.74919662G>TCA400961522USH1Gc.1174C>A (p.Leu392Met)
c.*773C>A (n.*773C>A)
c.865C>A (p.Leu289Met)
17g.74919663_74919664delCA2576383327USH1Gc.1173_1174del (p.Leu392GlyfsTer?)
c.*772_*773del (n.*772_*773del)
c.864_865del (p.Leu289GlyfsTer?)
 gnomAD v4
17g.74919663C>ACA502036647USH1Gc.1173G>T (p.Pro391=)
c.*772G>T (n.*772G>T)
c.864G>T (p.Pro288=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919663C=CA2275255199USH1Gc.1173G= (p.Pro391=)
c.*772G= (n.*772G=)
c.864G= (p.Pro288=)
17g.74919663C>GCA502036648USH1Gc.1173G>C (p.Pro391=)
c.*772G>C (n.*772G>C)
c.864G>C (p.Pro288=)
 gnomAD v4
17g.74919663C>TCA502036649USH1Gc.1173G>A (p.Pro391=)
c.*772G>A (n.*772G>A)
c.864G>A (p.Pro288=)
 COSMIC
17g.74919669_74919679delCA2639747145USH1Gc.1163_1173del (p.Glu388AlafsTer?)
c.*762_*772del (n.*762_*772del)
c.854_864del (p.Glu285AlafsTer?)
 gnomAD v4
17g.74919664G>ACA400961523USH1Gc.1172C>T (p.Pro391Leu)
c.*771C>T (n.*771C>T)
c.863C>T (p.Pro288Leu)
17g.74919664G>CCA400961524USH1Gc.1172C>G (p.Pro391Arg)
c.*771C>G (n.*771C>G)
c.863C>G (p.Pro288Arg)
17g.74919664G>TCA400961525USH1Gc.1172C>A (p.Pro391Gln)
c.*771C>A (n.*771C>A)
c.863C>A (p.Pro288Gln)
17g.74919665G>ACA400961526USH1Gc.1171C>T (p.Pro391Ser)
c.*770C>T (n.*770C>T)
c.862C>T (p.Pro288Ser)
 gnomAD v4
17g.74919665G>CCA400961527USH1Gc.1171C>G (p.Pro391Ala)
c.*770C>G (n.*770C>G)
c.862C>G (p.Pro288Ala)
17g.74919665G>TCA400961528USH1Gc.1171C>A (p.Pro391Thr)
c.*770C>A (n.*770C>A)
c.862C>A (p.Pro288Thr)
17g.74919665_74919667delCA645598975USH1Gc.1169_1171del (p.Ser390_Pro391delinsThr)
c.*768_*770del (n.*768_*770del)
c.860_862del (p.Ser287_Pro288delinsThr)
 COSMIC
17g.74919666G>ACA8753920USH1Gc.1170C>T (p.Ser390=)
c.*769C>T (n.*769C>T)
c.861C>T (p.Ser287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919666G>CCA400961530USH1Gc.1170C>G (p.Ser390Arg)
c.*769C>G (n.*769C>G)
c.861C>G (p.Ser287Arg)
 gnomAD v4
17g.74919666G=CA2275255200USH1Gc.1170C= (p.Ser390=)
c.*769C= (n.*769C=)
c.861C= (p.Ser287=)
17g.74919666G>TCA400961529USH1Gc.1170C>A (p.Ser390Arg)
c.*769C>A (n.*769C>A)
c.861C>A (p.Ser287Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.74919667C>ACA400961531USH1Gc.1169G>T (p.Ser390Ile)
c.*768G>T (n.*768G>T)
c.860G>T (p.Ser287Ile)
 dbSNP gnomAD v4
17g.74919667C=CA2275255201USH1Gc.1169G= (p.Ser390=)
c.*768G= (n.*768G=)
c.860G= (p.Ser287=)
17g.74919667C>GCA400961532USH1Gc.1169G>C (p.Ser390Thr)
c.*768G>C (n.*768G>C)
c.860G>C (p.Ser287Thr)
17g.74919667C>TCA400961533USH1Gc.1169G>A (p.Ser390Asn)
c.*768G>A (n.*768G>A)
c.860G>A (p.Ser287Asn)
 gnomAD v4
17g.74919668T>ACA400961534USH1Gc.1168A>T (p.Ser390Cys)
c.*767A>T (n.*767A>T)
c.859A>T (p.Ser287Cys)
17g.74919668T>CCA400961535USH1Gc.1168A>G (p.Ser390Gly)
c.*767A>G (n.*767A>G)
c.859A>G (p.Ser287Gly)
17g.74919668T>GCA400961536USH1Gc.1168A>C (p.Ser390Arg)
c.*767A>C (n.*767A>C)
c.859A>C (p.Ser287Arg)
17g.74919669A=CA2275255202USH1Gc.1167T= (p.Thr389=)
c.*766T= (n.*766T=)
c.858T= (p.Thr286=)
17g.74919669A>CCA502036660USH1Gc.1167T>G (p.Thr389=)
c.*766T>G (n.*766T>G)
c.858T>G (p.Thr286=)
17g.74919669A>GCA502036659USH1Gc.1167T>C (p.Thr389=)
c.*766T>C (n.*766T>C)
c.858T>C (p.Thr286=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919669A>TCA502036658USH1Gc.1167T>A (p.Thr389=)
c.*766T>A (n.*766T>A)
c.858T>A (p.Thr286=)
17g.74919670G>ACA400961537USH1Gc.1166C>T (p.Thr389Ile)
c.*765C>T (n.*765C>T)
c.857C>T (p.Thr286Ile)
17g.74919670G>CCA400961538USH1Gc.1166C>G (p.Thr389Ser)
c.*765C>G (n.*765C>G)
c.857C>G (p.Thr286Ser)
17g.74919670G>TCA400961539USH1Gc.1166C>A (p.Thr389Asn)
c.*765C>A (n.*765C>A)
c.857C>A (p.Thr286Asn)
17g.74919671T>ACA400961540USH1Gc.1165A>T (p.Thr389Ser)
c.*764A>T (n.*764A>T)
c.856A>T (p.Thr286Ser)
17g.74919671T>CCA400961541USH1Gc.1165A>G (p.Thr389Ala)
c.*764A>G (n.*764A>G)
c.856A>G (p.Thr286Ala)
17g.74919671T>GCA400961542USH1Gc.1165A>C (p.Thr389Pro)
c.*764A>C (n.*764A>C)
c.856A>C (p.Thr286Pro)
17g.74919672C>ACA400961543USH1Gc.1164G>T (p.Glu388Asp)
c.*763G>T (n.*763G>T)
c.855G>T (p.Glu285Asp)
17g.74919672C=CA2275255203USH1Gc.1164G= (p.Glu388=)
c.*763G= (n.*763G=)
c.855G= (p.Glu285=)
17g.74919672C>GCA8753921USH1Gc.1164G>C (p.Glu388Asp)
c.*763G>C (n.*763G>C)
c.855G>C (p.Glu285Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919672C>TCA502036665USH1Gc.1164G>A (p.Glu388=)
c.*763G>A (n.*763G>A)
c.855G>A (p.Glu285=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919673delCA2639747147USH1Gc.1163del (p.Glu388GlyfsTer?)
c.*762del (n.*762del)
c.854del (p.Glu285GlyfsTer?)
 gnomAD v4
17g.74919673T>ACA400961544USH1Gc.1163A>T (p.Glu388Val)
c.*762A>T (n.*762A>T)
c.854A>T (p.Glu285Val)
17g.74919673T>CCA400961545USH1Gc.1163A>G (p.Glu388Gly)
c.*762A>G (n.*762A>G)
c.854A>G (p.Glu285Gly)
 gnomAD v4
17g.74919673T>GCA400961546USH1Gc.1163A>C (p.Glu388Ala)
c.*762A>C (n.*762A>C)
c.854A>C (p.Glu285Ala)
17g.74919674C>ACA8753923USH1Gc.1162G>T (p.Glu388Ter)
c.*761G>T (n.*761G>T)
c.853G>T (p.Glu285Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919674C=CA2275255204USH1Gc.1162G= (p.Glu388=)
c.*761G= (n.*761G=)
c.853G= (p.Glu285=)
17g.74919674C>GCA400961547USH1Gc.1162G>C (p.Glu388Gln)
c.*761G>C (n.*761G>C)
c.853G>C (p.Glu285Gln)
17g.74919674C>TCA8753922USH1Gc.1162G>A (p.Glu388Lys)
c.*761G>A (n.*761G>A)
c.853G>A (p.Glu285Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919674_74919675insAACA2639747148USH1Gc.1161_1162insTT (p.Glu388LeufsTer?)
c.*760_*761insTT (n.*760_*761insTT)
c.852_853insTT (p.Glu285LeufsTer?)
 gnomAD v4
17g.74919675G>ACA502036673USH1Gc.1161C>T (p.Pro387=)
c.*760C>T (n.*760C>T)
c.852C>T (p.Pro284=)
17g.74919675G>CCA502036674USH1Gc.1161C>G (p.Pro387=)
c.*760C>G (n.*760C>G)
c.852C>G (p.Pro284=)
 dbSNP gnomAD v4
17g.74919675G=CA2275255205USH1Gc.1161C= (p.Pro387=)
c.*760C= (n.*760C=)
c.852C= (p.Pro284=)
17g.74919675G>TCA502036675USH1Gc.1161C>A (p.Pro387=)
c.*760C>A (n.*760C>A)
c.852C>A (p.Pro284=)
17g.74919676G>ACA400961548USH1Gc.1160C>T (p.Pro387Leu)
c.*759C>T (n.*759C>T)
c.851C>T (p.Pro284Leu)
17g.74919676G>CCA400961549USH1Gc.1160C>G (p.Pro387Arg)
c.*759C>G (n.*759C>G)
c.851C>G (p.Pro284Arg)
17g.74919676G>TCA400961550USH1Gc.1160C>A (p.Pro387His)
c.*759C>A (n.*759C>A)
c.851C>A (p.Pro284His)
17g.74919677G>ACA400961551USH1Gc.1159C>T (p.Pro387Ser)
c.*758C>T (n.*758C>T)
c.850C>T (p.Pro284Ser)
 COSMIC
17g.74919677G>CCA400961552USH1Gc.1159C>G (p.Pro387Ala)
c.*758C>G (n.*758C>G)
c.850C>G (p.Pro284Ala)
 gnomAD v4
17g.74919677G>TCA400961553USH1Gc.1159C>A (p.Pro387Thr)
c.*758C>A (n.*758C>A)
c.850C>A (p.Pro284Thr)
17g.74919678C>ACA293983566USH1Gc.1158G>T (p.Glu386Asp)
c.*757G>T (n.*757G>T)
c.849G>T (p.Glu283Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919678C=CA2275255206USH1Gc.1158G= (p.Glu386=)
c.*757G= (n.*757G=)
c.849G= (p.Glu283=)
17g.74919678C>GCA400961554USH1Gc.1158G>C (p.Glu386Asp)
c.*757G>C (n.*757G>C)
c.849G>C (p.Glu283Asp)
17g.74919678C>TCA502036681USH1Gc.1158G>A (p.Glu386=)
c.*757G>A (n.*757G>A)
c.849G>A (p.Glu283=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919679T>ACA400961555USH1Gc.1157A>T (p.Glu386Val)
c.*756A>T (n.*756A>T)
c.848A>T (p.Glu283Val)
17g.74919679T>CCA400961557USH1Gc.1157A>G (p.Glu386Gly)
c.*756A>G (n.*756A>G)
c.848A>G (p.Glu283Gly)
 gnomAD v4
17g.74919679T>GCA400961556USH1Gc.1157A>C (p.Glu386Ala)
c.*756A>C (n.*756A>C)
c.848A>C (p.Glu283Ala)
17g.74919680C>ACA400961558USH1Gc.1156G>T (p.Glu386Ter)
c.*755G>T (n.*755G>T)
c.847G>T (p.Glu283Ter)
17g.74919680C>GCA400961559USH1Gc.1156G>C (p.Glu386Gln)
c.*755G>C (n.*755G>C)
c.847G>C (p.Glu283Gln)
 gnomAD v4
17g.74919680C>TCA400961560USH1Gc.1156G>A (p.Glu386Lys)
c.*755G>A (n.*755G>A)
c.847G>A (p.Glu283Lys)
17g.74919681C>ACA502036687USH1Gc.1155G>T (p.Leu385=)
c.*754G>T (n.*754G>T)
c.846G>T (p.Leu282=)
17g.74919681C>GCA502036688USH1Gc.1155G>C (p.Leu385=)
c.*754G>C (n.*754G>C)
c.846G>C (p.Leu282=)
17g.74919681C>TCA502036689USH1Gc.1155G>A (p.Leu385=)
c.*754G>A (n.*754G>A)
c.846G>A (p.Leu282=)
 gnomAD v4
17g.74919682A>CCA400961561USH1Gc.1154T>G (p.Leu385Arg)
c.*753T>G (n.*753T>G)
c.845T>G (p.Leu282Arg)
17g.74919682A>GCA400961562USH1Gc.1154T>C (p.Leu385Pro)
c.*753T>C (n.*753T>C)
c.845T>C (p.Leu282Pro)
 gnomAD v4
17g.74919682A>TCA400961563USH1Gc.1154T>A (p.Leu385Gln)
c.*753T>A (n.*753T>A)
c.845T>A (p.Leu282Gln)
17g.74919683G>ACA502036693USH1Gc.1153C>T (p.Leu385=)
c.*752C>T (n.*752C>T)
c.844C>T (p.Leu282=)
 gnomAD v4
17g.74919683G>CCA400961564USH1Gc.1153C>G (p.Leu385Val)
c.*752C>G (n.*752C>G)
c.844C>G (p.Leu282Val)
 dbSNP gnomAD v2 gnomAD v4
17g.74919683G=CA2275255207USH1Gc.1153C= (p.Leu385=)
c.*752C= (n.*752C=)
c.844C= (p.Leu282=)
17g.74919683G>TCA293983567USH1Gc.1153C>A (p.Leu385Met)
c.*752C>A (n.*752C>A)
c.844C>A (p.Leu282Met)
 dbSNP
17g.74919684G>ACA183405USH1Gc.1152C>T (p.Asp384=)
c.*751C>T (n.*751C>T)
c.843C>T (p.Asp281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919684G>CCA400961565USH1Gc.1152C>G (p.Asp384Glu)
c.*751C>G (n.*751C>G)
c.843C>G (p.Asp281Glu)
17g.74919684G=CA2275255208USH1Gc.1152C= (p.Asp384=)
c.*751C= (n.*751C=)
c.843C= (p.Asp281=)
17g.74919684G>TCA400961566USH1Gc.1152C>A (p.Asp384Glu)
c.*751C>A (n.*751C>A)
c.843C>A (p.Asp281Glu)
17g.74919685T>ACA400961569USH1Gc.1151A>T (p.Asp384Val)
c.*750A>T (n.*750A>T)
c.842A>T (p.Asp281Val)
17g.74919685T>CCA400961568USH1Gc.1151A>G (p.Asp384Gly)
c.*750A>G (n.*750A>G)
c.842A>G (p.Asp281Gly)
17g.74919685T>GCA400961567USH1Gc.1151A>C (p.Asp384Ala)
c.*750A>C (n.*750A>C)
c.842A>C (p.Asp281Ala)
17g.74919686C>ACA400961570USH1Gc.1150G>T (p.Asp384Tyr)
c.*749G>T (n.*749G>T)
c.841G>T (p.Asp281Tyr)
 dbSNP
17g.74919686C=CA2275255209USH1Gc.1150G= (p.Asp384=)
c.*749G= (n.*749G=)
c.841G= (p.Asp281=)
17g.74919686C>GCA400961571USH1Gc.1150G>C (p.Asp384His)
c.*749G>C (n.*749G>C)
c.841G>C (p.Asp281His)
17g.74919686C>TCA400961572USH1Gc.1150G>A (p.Asp384Asn)
c.*749G>A (n.*749G>A)
c.841G>A (p.Asp281Asn)
 gnomAD v4
17g.74919687C>ACA400961573USH1Gc.1149G>T (p.Glu383Asp)
c.*748G>T (n.*748G>T)
c.840G>T (p.Glu280Asp)
17g.74919687C=CA2275255210USH1Gc.1149G= (p.Glu383=)
c.*748G= (n.*748G=)
c.840G= (p.Glu280=)
17g.74919687C>GCA8753924USH1Gc.1149G>C (p.Glu383Asp)
c.*748G>C (n.*748G>C)
c.840G>C (p.Glu280Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919687C>TCA8753925USH1Gc.1149G>A (p.Glu383=)
c.*748G>A (n.*748G>A)
c.840G>A (p.Glu280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919688T>ACA8753926USH1Gc.1148A>T (p.Glu383Val)
c.*747A>T (n.*747A>T)
c.839A>T (p.Glu280Val)
 dbSNP ExAC gnomAD v4
17g.74919688T>CCA400961574USH1Gc.1148A>G (p.Glu383Gly)
c.*747A>G (n.*747A>G)
c.839A>G (p.Glu280Gly)
17g.74919688T>GCA400961575USH1Gc.1148A>C (p.Glu383Ala)
c.*747A>C (n.*747A>C)
c.839A>C (p.Glu280Ala)
17g.74919688T=CA2275255211USH1Gc.1148A= (p.Glu383=)
c.*747A= (n.*747A=)
c.839A= (p.Glu280=)
17g.74919689C>ACA400961576USH1Gc.1147G>T (p.Glu383Ter)
c.*746G>T (n.*746G>T)
c.838G>T (p.Glu280Ter)
 dbSNP
17g.74919689C=CA2275255212USH1Gc.1147G= (p.Glu383=)
c.*746G= (n.*746G=)
c.838G= (p.Glu280=)
17g.74919689C>GCA400961577USH1Gc.1147G>C (p.Glu383Gln)
c.*746G>C (n.*746G>C)
c.838G>C (p.Glu280Gln)
17g.74919689C>TCA400961578USH1Gc.1147G>A (p.Glu383Lys)
c.*746G>A (n.*746G>A)
c.838G>A (p.Glu280Lys)
 gnomAD v4
17g.74919690G>ACA8753927USH1Gc.1146C>T (p.Asp382=)
c.*745C>T (n.*745C>T)
c.837C>T (p.Asp279=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919690G>CCA400961580USH1Gc.1146C>G (p.Asp382Glu)
c.*745C>G (n.*745C>G)
c.837C>G (p.Asp279Glu)
 gnomAD v4
17g.74919690G=CA2275255213USH1Gc.1146C= (p.Asp382=)
c.*745C= (n.*745C=)
c.837C= (p.Asp279=)
17g.74919690G>TCA400961579USH1Gc.1146C>A (p.Asp382Glu)
c.*745C>A (n.*745C>A)
c.837C>A (p.Asp279Glu)
 gnomAD v4
17g.74919691T>ACA400961581USH1Gc.1145A>T (p.Asp382Val)
c.*744A>T (n.*744A>T)
c.836A>T (p.Asp279Val)
 COSMIC
17g.74919691T>CCA400961582USH1Gc.1145A>G (p.Asp382Gly)
c.*744A>G (n.*744A>G)
c.836A>G (p.Asp279Gly)
17g.74919691T>GCA400961583USH1Gc.1145A>C (p.Asp382Ala)
c.*744A>C (n.*744A>C)
c.836A>C (p.Asp279Ala)
 gnomAD v4
17g.74919692C>ACA400961584USH1Gc.1144G>T (p.Asp382Tyr)
c.*743G>T (n.*743G>T)
c.835G>T (p.Asp279Tyr)
17g.74919692C>GCA400961585USH1Gc.1144G>C (p.Asp382His)
c.*743G>C (n.*743G>C)
c.835G>C (p.Asp279His)
17g.74919692C>TCA400961586USH1Gc.1144G>A (p.Asp382Asn)
c.*743G>A (n.*743G>A)
c.835G>A (p.Asp279Asn)
17g.74919693C>ACA400961588USH1Gc.1143G>T (p.Leu381Phe)
c.*742G>T (n.*742G>T)
c.834G>T (p.Leu278Phe)
17g.74919693C=CA2275255214USH1Gc.1143G= (p.Leu381=)
c.*742G= (n.*742G=)
c.834G= (p.Leu278=)
17g.74919693C>GCA400961587USH1Gc.1143G>C (p.Leu381Phe)
c.*742G>C (n.*742G>C)
c.834G>C (p.Leu278Phe)
17g.74919693C>TCA502036710USH1Gc.1143G>A (p.Leu381=)
c.*742G>A (n.*742G>A)
c.834G>A (p.Leu278=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919694A=CA2275255215USH1Gc.1142T= (p.Leu381=)
c.*741T= (n.*741T=)
c.833T= (p.Leu278=)
17g.74919694A>CCA400961589USH1Gc.1142T>G (p.Leu381Trp)
c.*741T>G (n.*741T>G)
c.833T>G (p.Leu278Trp)
17g.74919694A>GCA400961590USH1Gc.1142T>C (p.Leu381Ser)
c.*741T>C (n.*741T>C)
c.833T>C (p.Leu278Ser)
 ClinVar dbSNP gnomAD v4
17g.74919694A>TCA400961591USH1Gc.1142T>A (p.Leu381Ter)
c.*741T>A (n.*741T>A)
c.833T>A (p.Leu278Ter)
17g.74919695A=CA2275255216USH1Gc.1141T= (p.Leu381=)
c.*740T= (n.*740T=)
c.832T= (p.Leu278=)
17g.74919695A>CCA400961592USH1Gc.1141T>G (p.Leu381Val)
c.*740T>G (n.*740T>G)
c.832T>G (p.Leu278Val)
17g.74919695A>GCA8753928USH1Gc.1141T>C (p.Leu381=)
c.*740T>C (n.*740T>C)
c.832T>C (p.Leu278=)
 dbSNP ExAC gnomAD v2
17g.74919695A>TCA400961593USH1Gc.1141T>A (p.Leu381Met)
c.*740T>A (n.*740T>A)
c.832T>A (p.Leu278Met)
17g.74919696G>ACA293983599USH1Gc.1140C>T (p.Gly380=)
c.*739C>T (n.*739C>T)
c.831C>T (p.Gly277=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919696G>CCA502036713USH1Gc.1140C>G (p.Gly380=)
c.*739C>G (n.*739C>G)
c.831C>G (p.Gly277=)
17g.74919696G=CA2275255217USH1Gc.1140C= (p.Gly380=)
c.*739C= (n.*739C=)
c.831C= (p.Gly277=)
17g.74919696G>TCA502036715USH1Gc.1140C>A (p.Gly380=)
c.*739C>A (n.*739C>A)
c.831C>A (p.Gly277=)
17g.74919697C>ACA400961594USH1Gc.1139G>T (p.Gly380Val)
c.*738G>T (n.*738G>T)
c.830G>T (p.Gly277Val)
17g.74919697C=CA2275255218USH1Gc.1139G= (p.Gly380=)
c.*738G= (n.*738G=)
c.830G= (p.Gly277=)
17g.74919697C>GCA293983603USH1Gc.1139G>C (p.Gly380Ala)
c.*738G>C (n.*738G>C)
c.830G>C (p.Gly277Ala)
 dbSNP
17g.74919697C>TCA8753929USH1Gc.1139G>A (p.Gly380Asp)
c.*738G>A (n.*738G>A)
c.830G>A (p.Gly277Asp)
 dbSNP ExAC gnomAD v2
17g.74919697_74919704delCA2639747151USH1Gc.1132_1139del (p.Asp378LeufsTer10)
c.*731_*738del (n.*731_*738del)
c.823_830del (p.Asp275LeufsTer10)
 gnomAD v4
17g.74919698C>ACA400961595USH1Gc.1138G>T (p.Gly380Cys)
c.*737G>T (n.*737G>T)
c.829G>T (p.Gly277Cys)
17g.74919698C>GCA400961596USH1Gc.1138G>C (p.Gly380Arg)
c.*737G>C (n.*737G>C)
c.829G>C (p.Gly277Arg)
17g.74919698C>TCA400961597USH1Gc.1138G>A (p.Gly380Ser)
c.*737G>A (n.*737G>A)
c.829G>A (p.Gly277Ser)
17g.74919699T>ACA400961598USH1Gc.1137A>T (p.Leu379Phe)
c.*736A>T (n.*736A>T)
c.828A>T (p.Leu276Phe)
 gnomAD v4
17g.74919699T>CCA502036724USH1Gc.1137A>G (p.Leu379=)
c.*736A>G (n.*736A>G)
c.828A>G (p.Leu276=)
17g.74919699T>GCA400961599USH1Gc.1137A>C (p.Leu379Phe)
c.*736A>C (n.*736A>C)
c.828A>C (p.Leu276Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919699T=CA2275255219USH1Gc.1137A= (p.Leu379=)
c.*736A= (n.*736A=)
c.828A= (p.Leu276=)
17g.74919700A=CA2275255220USH1Gc.1136T= (p.Leu379=)
c.*735T= (n.*735T=)
c.827T= (p.Leu276=)
17g.74919700A>CCA400961600USH1Gc.1136T>G (p.Leu379Ter)
c.*735T>G (n.*735T>G)
c.827T>G (p.Leu276Ter)
17g.74919700A>GCA293983614USH1Gc.1136T>C (p.Leu379Ser)
c.*735T>C (n.*735T>C)
c.827T>C (p.Leu276Ser)
 dbSNP gnomAD v4 COSMIC
17g.74919700A>TCA400961601USH1Gc.1136T>A (p.Leu379Ter)
c.*735T>A (n.*735T>A)
c.827T>A (p.Leu276Ter)
17g.74919701A>CCA400961602USH1Gc.1135T>G (p.Leu379Val)
c.*734T>G (n.*734T>G)
c.826T>G (p.Leu276Val)
17g.74919701A>GCA502036731USH1Gc.1135T>C (p.Leu379=)
c.*734T>C (n.*734T>C)
c.826T>C (p.Leu276=)
17g.74919701A>TCA400961603USH1Gc.1135T>A (p.Leu379Ile)
c.*734T>A (n.*734T>A)
c.826T>A (p.Leu276Ile)
17g.74919702A>CCA400961604USH1Gc.1134T>G (p.Asp378Glu)
c.*733T>G (n.*733T>G)
c.825T>G (p.Asp275Glu)
17g.74919702A>GCA502036734USH1Gc.1134T>C (p.Asp378=)
c.*733T>C (n.*733T>C)
c.825T>C (p.Asp275=)
 dbSNP
17g.74919702A>TCA400961605USH1Gc.1134T>A (p.Asp378Glu)
c.*733T>A (n.*733T>A)
c.825T>A (p.Asp275Glu)
17g.74919703T>ACA400961608USH1Gc.1133A>T (p.Asp378Val)
c.*732A>T (n.*732A>T)
c.824A>T (p.Asp275Val)
17g.74919703T>CCA400961607USH1Gc.1133A>G (p.Asp378Gly)
c.*732A>G (n.*732A>G)
c.824A>G (p.Asp275Gly)
17g.74919703T>GCA400961606USH1Gc.1133A>C (p.Asp378Ala)
c.*732A>C (n.*732A>C)
c.824A>C (p.Asp275Ala)
17g.74919704C>ACA400961609USH1Gc.1132G>T (p.Asp378Tyr)
c.*731G>T (n.*731G>T)
c.823G>T (p.Asp275Tyr)
17g.74919704C=CA2275255221USH1Gc.1132G= (p.Asp378=)
c.*731G= (n.*731G=)
c.823G= (p.Asp275=)
17g.74919704C>GCA8753930USH1Gc.1132G>C (p.Asp378His)
c.*731G>C (n.*731G>C)
c.823G>C (p.Asp275His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919704C>TCA400961610USH1Gc.1132G>A (p.Asp378Asn)
c.*731G>A (n.*731G>A)
c.823G>A (p.Asp275Asn)
 ClinVar dbSNP COSMIC
17g.74919705G>ACA502036739USH1Gc.1131C>T (p.Leu377=)
c.*730C>T (n.*730C>T)
c.822C>T (p.Leu274=)
17g.74919705G>CCA502036741USH1Gc.1131C>G (p.Leu377=)
c.*730C>G (n.*730C>G)
c.822C>G (p.Leu274=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919705G=CA2275255222USH1Gc.1131C= (p.Leu377=)
c.*730C= (n.*730C=)
c.822C= (p.Leu274=)
17g.74919705G>TCA502036740USH1Gc.1131C>A (p.Leu377=)
c.*730C>A (n.*730C>A)
c.822C>A (p.Leu274=)
 gnomAD v4
17g.74919706delCA2639747154USH1Gc.1130del (p.Leu377ProfsTer3)
c.*729del (n.*729del)
c.821del (p.Leu274ProfsTer3)
 gnomAD v4
17g.74919706A>CCA400961611USH1Gc.1130T>G (p.Leu377Arg)
c.*729T>G (n.*729T>G)
c.821T>G (p.Leu274Arg)
17g.74919706A>GCA400961613USH1Gc.1130T>C (p.Leu377Pro)
c.*729T>C (n.*729T>C)
c.821T>C (p.Leu274Pro)
17g.74919706A>TCA400961612USH1Gc.1130T>A (p.Leu377His)
c.*729T>A (n.*729T>A)
c.821T>A (p.Leu274His)

Number of alleles fetched