Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.8733962C>ACA69861907CAV3,SSUH2c.86C>A (p.Pro29His)
c.64+8497G>T (p.=)
c.-283+8497G>T (p.=)
dbSNP
3g.8733962C>GCA351661512CAV3,SSUH2c.86C>G (p.Pro29Arg)
c.64+8497G>C (p.=)
c.-283+8497G>C (p.=)
3g.8733962C>TCA215147CAV3,SSUH2c.86C>T (p.Pro29Leu)
c.64+8497G>A (p.=)
c.-283+8497G>A (p.=)
ClinVar dbSNP
3g.8733963C>ACA432356436CAV3,SSUH2c.87C>A (p.Pro29=)
c.64+8496G>T (p.=)
c.-283+8496G>T (p.=)
3g.8733963C>GCA432356437CAV3,SSUH2c.87C>G (p.Pro29=)
c.64+8496G>C (p.=)
c.-283+8496G>C (p.=)
3g.8733963C>TCA432356438CAV3,SSUH2c.87C>T (p.Pro29=)
c.64+8496G>A (p.=)
c.-283+8496G>A (p.=)
gnomAD
3g.8733964A>CCA351661516CAV3,SSUH2c.88A>C (p.Lys30Gln)
c.64+8495T>G (p.=)
c.-283+8495T>G (p.=)
ClinVar
3g.8733964A>GCA351661517CAV3,SSUH2c.88A>G (p.Lys30Glu)
c.64+8495T>C (p.=)
c.-283+8495T>C (p.=)
3g.8733964A>TCA295962CAV3,SSUH2c.88A>T (p.Lys30Ter)
c.64+8495T>A (p.=)
c.-283+8495T>A (p.=)
ClinVar dbSNP gnomAD
3g.8733965A>CCA351661518CAV3,SSUH2c.89A>C (p.Lys30Thr)
c.64+8494T>G (p.=)
c.-283+8494T>G (p.=)
3g.8733965A>GCA2236283CAV3,SSUH2c.89A>G (p.Lys30Arg)
c.64+8494T>C (p.=)
c.-283+8494T>C (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733965A>TCA351661519CAV3,SSUH2c.89A>T (p.Lys30Met)
c.64+8494T>A (p.=)
c.-283+8494T>A (p.=)
3g.8733966G>ACA432356439CAV3,SSUH2c.90G>A (p.Lys30=)
c.64+8493C>T (p.=)
c.-283+8493C>T (p.=)
3g.8733966G>CCA351661521CAV3,SSUH2c.90G>C (p.Lys30Asn)
c.64+8493C>G (p.=)
c.-283+8493C>G (p.=)
3g.8733966G>TCA351661524CAV3,SSUH2c.90G>T (p.Lys30Asn)
c.64+8493C>A (p.=)
c.-283+8493C>A (p.=)
3g.8733967A>CCA351661527CAV3,SSUH2c.91A>C (p.Asn31His)
c.64+8492T>G (p.=)
c.-283+8492T>G (p.=)
3g.8733967A>GCA351661529CAV3,SSUH2c.91A>G (p.Asn31Asp)
c.64+8492T>C (p.=)
c.-283+8492T>C (p.=)
3g.8733967A>TCA351661530CAV3,SSUH2c.91A>T (p.Asn31Tyr)
c.64+8492T>A (p.=)
c.-283+8492T>A (p.=)
3g.8733968A>CCA351661532CAV3,SSUH2c.92A>C (p.Asn31Thr)
c.64+8491T>G (p.=)
c.-283+8491T>G (p.=)
3g.8733968A>GCA351661534CAV3,SSUH2c.92A>G (p.Asn31Ser)
c.64+8491T>C (p.=)
c.-283+8491T>C (p.=)
3g.8733968A>TCA10604545CAV3,SSUH2c.92A>T (p.Asn31Ile)
c.64+8491T>A (p.=)
c.-283+8491T>A (p.=)
ClinVar dbSNP
3g.8733969C>ACA351661538CAV3,SSUH2c.93C>A (p.Asn31Lys)
c.64+8490G>T (p.=)
c.-283+8490G>T (p.=)
3g.8733969C>GCA351661541CAV3,SSUH2c.93C>G (p.Asn31Lys)
c.64+8490G>C (p.=)
c.-283+8490G>C (p.=)
3g.8733969C>TCA432356440CAV3,SSUH2c.93C>T (p.Asn31=)
c.64+8490G>A (p.=)
c.-283+8490G>A (p.=)
3g.8733970A>CCA351661544CAV3,SSUH2c.94A>C (p.Ile32Leu)
c.64+8489T>G (p.=)
c.-283+8489T>G (p.=)
3g.8733970A>GCA351661547CAV3,SSUH2c.94A>G (p.Ile32Val)
c.64+8489T>C (p.=)
c.-283+8489T>C (p.=)
3g.8733970A>TCA351661548CAV3,SSUH2c.94A>T (p.Ile32Phe)
c.64+8489T>A (p.=)
c.-283+8489T>A (p.=)
3g.8733971T>ACA351661551CAV3,SSUH2c.95T>A (p.Ile32Asn)
c.64+8488A>T (p.=)
c.-283+8488A>T (p.=)
3g.8733971T>CCA351661555CAV3,SSUH2c.95T>C (p.Ile32Thr)
c.64+8488A>G (p.=)
c.-283+8488A>G (p.=)
3g.8733971T>GCA351661557CAV3,SSUH2c.95T>G (p.Ile32Ser)
c.64+8488A>C (p.=)
c.-283+8488A>C (p.=)
3g.8733972T>ACA432356441CAV3,SSUH2c.96T>A (p.Ile32=)
c.64+8487A>T (p.=)
c.-283+8487A>T (p.=)
3g.8733972T>CCA432356442CAV3,SSUH2c.96T>C (p.Ile32=)
c.64+8487A>G (p.=)
c.-283+8487A>G (p.=)
3g.8733972T>GCA351661558CAV3,SSUH2c.96T>G (p.Ile32Met)
c.64+8487A>C (p.=)
c.-283+8487A>C (p.=)
3g.8733973A>CCA351661564CAV3,SSUH2c.97A>C (p.Asn33His)
c.64+8486T>G (p.=)
c.-283+8486T>G (p.=)
3g.8733973A>GCA351661561CAV3,SSUH2c.97A>G (p.Asn33Asp)
c.64+8486T>C (p.=)
c.-283+8486T>C (p.=)
3g.8733973A>TCA351661565CAV3,SSUH2c.97A>T (p.Asn33Tyr)
c.64+8486T>A (p.=)
c.-283+8486T>A (p.=)
3g.8733974A>CCA351661568CAV3,SSUH2c.98A>C (p.Asn33Thr)
c.64+8485T>G (p.=)
c.-283+8485T>G (p.=)
3g.8733974A>GCA351661569CAV3,SSUH2c.98A>G (p.Asn33Ser)
c.64+8485T>C (p.=)
c.-283+8485T>C (p.=)
3g.8733974A>TCA351661571CAV3,SSUH2c.98A>T (p.Asn33Ile)
c.64+8485T>A (p.=)
c.-283+8485T>A (p.=)
3g.8733975C>ACA351661574CAV3,SSUH2c.99C>A (p.Asn33Lys)
c.64+8484G>T (p.=)
c.-283+8484G>T (p.=)
ClinVar
3g.8733975C>GCA119446CAV3,SSUH2c.99C>G (p.Asn33Lys)
c.64+8484G>C (p.=)
c.-283+8484G>C (p.=)
ClinVar dbSNP
3g.8733975C>TCA138581CAV3,SSUH2c.99C>T (p.Asn33=)
c.64+8484G>A (p.=)
c.-283+8484G>A (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733975_8733978delinsTCA891842703CAV3,SSUH2c.99_102delinsT (p.Glu34del)
c.64+8481_64+8484delinsA (p.=)
c.-283+8481_-283+8484delinsA (p.=)
ClinVar dbSNP
3g.8733976G>ACA215184CAV3,SSUH2c.100G>A (p.Glu34Lys)
c.64+8483C>T (p.=)
c.-283+8483C>T (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733976G>CCA351661579CAV3,SSUH2c.100G>C (p.Glu34Gln)
c.64+8483C>G (p.=)
c.-283+8483C>G (p.=)
3g.8733976G>TCA351661584CAV3,SSUH2c.100G>T (p.Glu34Ter)
c.64+8483C>A (p.=)
c.-283+8483C>A (p.=)
3g.8733977A>CCA351661588CAV3,SSUH2c.101A>C (p.Glu34Ala)
c.64+8482T>G (p.=)
c.-283+8482T>G (p.=)
3g.8733977A>GCA351661590CAV3,SSUH2c.101A>G (p.Glu34Gly)
c.64+8482T>C (p.=)
c.-283+8482T>C (p.=)
3g.8733977A>TCA351661592CAV3,SSUH2c.101A>T (p.Glu34Val)
c.64+8482T>A (p.=)
c.-283+8482T>A (p.=)
3g.8733978G>ACA432356443CAV3,SSUH2c.102G>A (p.Glu34=)
c.64+8481C>T (p.=)
c.-283+8481C>T (p.=)

Number of alleles fetched