Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.8733899_8733936dupCA2236277CAV3,SSUH2c.23_60dup (p.Glu21IlefsTer18)
c.64+8525_64+8562dup (p.=)
n.64_101dup
n.335+8525_335+8562dup
n.330+8525_330+8562dup
c.-283+8525_-283+8562dup (p.=)
dbSNP ExAC gnomAD
3g.8733913A=CA1344396575CAV3,SSUH2c.37A= (p.Ile13=)
c.64+8546T= (p.=)
n.78A=
n.335+8546T=
n.330+8546T=
c.-283+8546T= (p.=)
3g.8733913A>CCA351661298CAV3,SSUH2c.37A>C (p.Ile13Leu)
c.64+8546T>G (p.=)
n.78A>C
n.335+8546T>G
n.330+8546T>G
c.-283+8546T>G (p.=)
3g.8733913A>GCA351661300CAV3,SSUH2c.37A>G (p.Ile13Val)
c.64+8546T>C (p.=)
n.78A>G
n.335+8546T>C
n.330+8546T>C
c.-283+8546T>C (p.=)
3g.8733913A>TCA204138CAV3,SSUH2c.37A>T (p.Ile13Phe)
c.64+8546T>A (p.=)
n.78A>T
n.335+8546T>A
n.330+8546T>A
c.-283+8546T>A (p.=)
ClinVar dbSNP
3g.8733914T>ACA351661302CAV3,SSUH2c.38T>A (p.Ile13Asn)
c.64+8545A>T (p.=)
n.79T>A
n.335+8545A>T
n.330+8545A>T
c.-283+8545A>T (p.=)
3g.8733914T>CCA351661303CAV3,SSUH2c.38T>C (p.Ile13Thr)
c.64+8545A>G (p.=)
n.79T>C
n.335+8545A>G
n.330+8545A>G
c.-283+8545A>G (p.=)
3g.8733914T>GCA351661305CAV3,SSUH2c.38T>G (p.Ile13Ser)
c.64+8545A>C (p.=)
n.79T>G
n.335+8545A>C
n.330+8545A>C
c.-283+8545A>C (p.=)
3g.8733915C>ACA432356408CAV3,SSUH2c.39C>A (p.Ile13=)
c.64+8544G>T (p.=)
n.80C>A
n.335+8544G>T
n.330+8544G>T
c.-283+8544G>T (p.=)
3g.8733915C=CA1344396584CAV3,SSUH2c.39C= (p.Ile13=)
c.64+8544G= (p.=)
n.80C=
n.335+8544G=
n.330+8544G=
c.-283+8544G= (p.=)
3g.8733915C>GCA351661306CAV3,SSUH2c.39C>G (p.Ile13Met)
c.64+8544G>C (p.=)
n.80C>G
n.335+8544G>C
n.330+8544G>C
c.-283+8544G>C (p.=)
3g.8733915C>TCA183476CAV3,SSUH2c.39C>T (p.Ile13=)
c.64+8544G>A (p.=)
n.80C>T
n.335+8544G>A
n.330+8544G>A
c.-283+8544G>A (p.=)
ClinVar dbSNP ExAC gnomAD COSMIC
3g.8733916G>ACA175387CAV3,SSUH2c.40G>A (p.Val14Ile)
c.64+8543C>T (p.=)
n.81G>A
n.335+8543C>T
n.330+8543C>T
c.-283+8543C>T (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733916G>CCA215224CAV3,SSUH2c.40G>C (p.Val14Leu)
c.64+8543C>G (p.=)
n.81G>C
n.335+8543C>G
n.330+8543C>G
c.-283+8543C>G (p.=)
ClinVar dbSNP
3g.8733916G=CA1344396600CAV3,SSUH2c.40G= (p.Val14=)
c.64+8543C= (p.=)
n.81G=
n.335+8543C=
n.330+8543C=
c.-283+8543C= (p.=)
3g.8733916G>TCA351661311CAV3,SSUH2c.40G>T (p.Val14Phe)
c.64+8543C>A (p.=)
n.81G>T
n.335+8543C>A
n.330+8543C>A
c.-283+8543C>A (p.=)
3g.8733917T>ACA351661312CAV3,SSUH2c.41T>A (p.Val14Asp)
c.64+8542A>T (p.=)
n.82T>A
n.335+8542A>T
n.330+8542A>T
c.-283+8542A>T (p.=)
3g.8733917T>CCA351661314CAV3,SSUH2c.41T>C (p.Val14Ala)
c.64+8542A>G (p.=)
n.82T>C
n.335+8542A>G
n.330+8542A>G
c.-283+8542A>G (p.=)
3g.8733917T>GCA351661315CAV3,SSUH2c.41T>G (p.Val14Gly)
c.64+8542A>C (p.=)
n.82T>G
n.335+8542A>C
n.330+8542A>C
c.-283+8542A>C (p.=)
3g.8733918C>ACA432356409CAV3,SSUH2c.42C>A (p.Val14=)
c.64+8541G>T (p.=)
n.83C>A
n.335+8541G>T
n.330+8541G>T
c.-283+8541G>T (p.=)
3g.8733918C>GCA432356411CAV3,SSUH2c.42C>G (p.Val14=)
c.64+8541G>C (p.=)
n.83C>G
n.335+8541G>C
n.330+8541G>C
c.-283+8541G>C (p.=)
3g.8733918C>TCA432356410CAV3,SSUH2c.42C>T (p.Val14=)
c.64+8541G>A (p.=)
n.83C>T
n.335+8541G>A
n.330+8541G>A
c.-283+8541G>A (p.=)
3g.8733919A>CCA351661316CAV3,SSUH2c.43A>C (p.Lys15Gln)
c.64+8540T>G (p.=)
n.84A>C
n.335+8540T>G
n.330+8540T>G
c.-283+8540T>G (p.=)
3g.8733919A>GCA351661317CAV3,SSUH2c.43A>G (p.Lys15Glu)
c.64+8540T>C (p.=)
n.84A>G
n.335+8540T>C
n.330+8540T>C
c.-283+8540T>C (p.=)
3g.8733919A>TCA351661318CAV3,SSUH2c.43A>T (p.Lys15Ter)
c.64+8540T>A (p.=)
n.84A>T
n.335+8540T>A
n.330+8540T>A
c.-283+8540T>A (p.=)
3g.8733920A>CCA351661319CAV3,SSUH2c.44A>C (p.Lys15Thr)
c.64+8539T>G (p.=)
n.85A>C
n.335+8539T>G
n.330+8539T>G
c.-283+8539T>G (p.=)
3g.8733920A>GCA351661320CAV3,SSUH2c.44A>G (p.Lys15Arg)
c.64+8539T>C (p.=)
n.85A>G
n.335+8539T>C
n.330+8539T>C
c.-283+8539T>C (p.=)
3g.8733920A>TCA351661321CAV3,SSUH2c.44A>T (p.Lys15Met)
c.64+8539T>A (p.=)
n.85A>T
n.335+8539T>A
n.330+8539T>A
c.-283+8539T>A (p.=)
3g.8733921G>ACA432356412CAV3,SSUH2c.45G>A (p.Lys15=)
c.64+8538C>T (p.=)
n.86G>A
n.335+8538C>T
n.330+8538C>T
c.-283+8538C>T (p.=)
3g.8733921G>CCA351661322CAV3,SSUH2c.45G>C (p.Lys15Asn)
c.64+8538C>G (p.=)
n.86G>C
n.335+8538C>G
n.330+8538C>G
c.-283+8538C>G (p.=)
3g.8733921G>TCA351661323CAV3,SSUH2c.45G>T (p.Lys15Asn)
c.64+8538C>A (p.=)
n.86G>T
n.335+8538C>A
n.330+8538C>A
c.-283+8538C>A (p.=)
3g.8733922G>ACA351661324CAV3,SSUH2c.46G>A (p.Asp16Asn)
c.64+8537C>T (p.=)
n.87G>A
n.335+8537C>T
n.330+8537C>T
c.-283+8537C>T (p.=)
3g.8733922G>CCA351661326CAV3,SSUH2c.46G>C (p.Asp16His)
c.64+8537C>G (p.=)
n.87G>C
n.335+8537C>G
n.330+8537C>G
c.-283+8537C>G (p.=)
3g.8733922G=CA1344396605CAV3,SSUH2c.46G= (p.Asp16=)
c.64+8537C= (p.=)
n.87G=
n.335+8537C=
n.330+8537C=
c.-283+8537C= (p.=)
3g.8733922G>TCA351661325CAV3,SSUH2c.46G>T (p.Asp16Tyr)
c.64+8537C>A (p.=)
n.87G>T
n.335+8537C>A
n.330+8537C>A
c.-283+8537C>A (p.=)
3g.8733923A>CCA351661328CAV3,SSUH2c.47A>C (p.Asp16Ala)
c.64+8536T>G (p.=)
n.88A>C
n.335+8536T>G
n.330+8536T>G
c.-283+8536T>G (p.=)
3g.8733923A>GCA351661329CAV3,SSUH2c.47A>G (p.Asp16Gly)
c.64+8536T>C (p.=)
n.88A>G
n.335+8536T>C
n.330+8536T>C
c.-283+8536T>C (p.=)
3g.8733923A>TCA351661335CAV3,SSUH2c.47A>T (p.Asp16Val)
c.64+8536T>A (p.=)
n.88A>T
n.335+8536T>A
n.330+8536T>A
c.-283+8536T>A (p.=)
3g.8733924T>ACA351661336CAV3,SSUH2c.48T>A (p.Asp16Glu)
c.64+8535A>T (p.=)
n.89T>A
n.335+8535A>T
n.330+8535A>T
c.-283+8535A>T (p.=)
3g.8733924T>CCA432356413CAV3,SSUH2c.48T>C (p.Asp16=)
c.64+8535A>G (p.=)
n.89T>C
n.335+8535A>G
n.330+8535A>G
c.-283+8535A>G (p.=)
3g.8733924T>GCA351661339CAV3,SSUH2c.48T>G (p.Asp16Glu)
c.64+8535A>C (p.=)
n.89T>G
n.335+8535A>C
n.330+8535A>C
c.-283+8535A>C (p.=)
3g.8733925A>CCA351661341CAV3,SSUH2c.49A>C (p.Ile17Leu)
c.64+8534T>G (p.=)
n.90A>C
n.335+8534T>G
n.330+8534T>G
c.-283+8534T>G (p.=)
3g.8733925A>GCA351661345CAV3,SSUH2c.49A>G (p.Ile17Val)
c.64+8534T>C (p.=)
n.90A>G
n.335+8534T>C
n.330+8534T>C
c.-283+8534T>C (p.=)
3g.8733925A>TCA351661346CAV3,SSUH2c.49A>T (p.Ile17Phe)
c.64+8534T>A (p.=)
n.90A>T
n.335+8534T>A
n.330+8534T>A
c.-283+8534T>A (p.=)
3g.8733926T>ACA351661348CAV3,SSUH2c.50T>A (p.Ile17Asn)
c.64+8533A>T (p.=)
n.91T>A
n.335+8533A>T
n.330+8533A>T
c.-283+8533A>T (p.=)
3g.8733926T>CCA351661350CAV3,SSUH2c.50T>C (p.Ile17Thr)
c.64+8533A>G (p.=)
n.91T>C
n.335+8533A>G
n.330+8533A>G
c.-283+8533A>G (p.=)
3g.8733926T>GCA351661351CAV3,SSUH2c.50T>G (p.Ile17Ser)
c.64+8533A>C (p.=)
n.91T>G
n.335+8533A>C
n.330+8533A>C
c.-283+8533A>C (p.=)
3g.8733927C>ACA432356414CAV3,SSUH2c.51C>A (p.Ile17=)
c.64+8532G>T (p.=)
n.92C>A
n.335+8532G>T
n.330+8532G>T
c.-283+8532G>T (p.=)
3g.8733927C=CA1344396611CAV3,SSUH2c.51C= (p.Ile17=)
c.64+8532G= (p.=)
n.92C=
n.335+8532G=
n.330+8532G=
c.-283+8532G= (p.=)
3g.8733927C>GCA351661355CAV3,SSUH2c.51C>G (p.Ile17Met)
c.64+8532G>C (p.=)
n.92C>G
n.335+8532G>C
n.330+8532G>C
c.-283+8532G>C (p.=)

Number of alleles fetched