Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.8733875_8733878delinsCGATCA1344396433CAV3,SSUH2c.-2_2delinsCGAT
c.64+8581_64+8584delinsATCG (p.=)
n.40_43delinsCGAT
n.335+8581_335+8584delinsATCG
n.330+8581_330+8584delinsATCG
c.-283+8581_-283+8584delinsATCG (p.=)
3g.8733876G>ACA138555CAV3,SSUH2c.-1G>A (p.=)
c.64+8583C>T (p.=)
n.41G>A
n.335+8583C>T
n.330+8583C>T
c.-283+8583C>T (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733876G=CA1344396445CAV3,SSUH2c.-1G= (p.=)
c.64+8583C= (p.=)
n.41G=
n.335+8583C=
n.330+8583C=
c.-283+8583C= (p.=)
3g.8733880_8733882delCA911554373CAV3,SSUH2c.4_6del (p.Met2del)
c.64+8581_64+8583del (p.=)
n.45_47del
n.335+8581_335+8583del
n.330+8581_330+8583del
c.-283+8581_-283+8583del (p.=)
dbSNP
3g.8733877A>CCA351661121CAV3,SSUH2c.1A>C
c.64+8582T>G (p.=)
n.42A>C
n.335+8582T>G
n.330+8582T>G
c.-283+8582T>G (p.=)
3g.8733877A>GCA351661123CAV3,SSUH2c.1A>G
c.64+8582T>C (p.=)
n.42A>G
n.335+8582T>C
n.330+8582T>C
c.-283+8582T>C (p.=)
3g.8733877A>TCA351661122CAV3,SSUH2c.1A>T
c.64+8582T>A (p.=)
n.42A>T
n.335+8582T>A
n.330+8582T>A
c.-283+8582T>A (p.=)
3g.8733878T>ACA351661124CAV3,SSUH2c.2T>A
c.64+8581A>T (p.=)
n.43T>A
n.335+8581A>T
n.330+8581A>T
c.-283+8581A>T (p.=)
3g.8733878T>CCA351661125CAV3,SSUH2c.2T>C
c.64+8581A>G (p.=)
n.43T>C
n.335+8581A>G
n.330+8581A>G
c.-283+8581A>G (p.=)
gnomAD
3g.8733878T>GCA351661126CAV3,SSUH2c.2T>G
c.64+8581A>C (p.=)
n.43T>G
n.335+8581A>C
n.330+8581A>C
c.-283+8581A>C (p.=)
3g.8733878T=CA1344396449CAV3,SSUH2c.2T=
c.64+8581A= (p.=)
n.43T=
n.335+8581A=
n.330+8581A=
c.-283+8581A= (p.=)
3g.8733879G>ACA351661127CAV3,SSUH2c.3G>A
c.64+8580C>T (p.=)
n.44G>A
n.335+8580C>T
n.330+8580C>T
c.-283+8580C>T (p.=)
3g.8733879G>CCA351661128CAV3,SSUH2c.3G>C
c.64+8580C>G (p.=)
n.44G>C
n.335+8580C>G
n.330+8580C>G
c.-283+8580C>G (p.=)
3g.8733879G>TCA351661129CAV3,SSUH2c.3G>T
c.64+8580C>A (p.=)
n.44G>T
n.335+8580C>A
n.330+8580C>A
c.-283+8580C>A (p.=)
3g.8733880A=CA1344396453CAV3,SSUH2c.4A= (p.Met2=)
c.64+8579T= (p.=)
n.45A=
n.335+8579T=
n.330+8579T=
c.-283+8579T= (p.=)
3g.8733880A>CCA351661130CAV3,SSUH2c.4A>C (p.Met2Leu)
c.64+8579T>G (p.=)
n.45A>C
n.335+8579T>G
n.330+8579T>G
c.-283+8579T>G (p.=)
3g.8733880A>GCA351661131CAV3,SSUH2c.4A>G (p.Met2Val)
c.64+8579T>C (p.=)
n.45A>G
n.335+8579T>C
n.330+8579T>C
c.-283+8579T>C (p.=)
3g.8733880A>TCA351661132CAV3,SSUH2c.4A>T (p.Met2Leu)
c.64+8579T>A (p.=)
n.45A>T
n.335+8579T>A
n.330+8579T>A
c.-283+8579T>A (p.=)
3g.8733881T>ACA351661133CAV3,SSUH2c.5T>A (p.Met2Lys)
c.64+8578A>T (p.=)
n.46T>A
n.335+8578A>T
n.330+8578A>T
c.-283+8578A>T (p.=)
3g.8733881T>CCA69861834CAV3,SSUH2c.5T>C (p.Met2Thr)
c.64+8578A>G (p.=)
n.46T>C
n.335+8578A>G
n.330+8578A>G
c.-283+8578A>G (p.=)
ClinVar dbSNP
3g.8733881T>GCA351661134CAV3,SSUH2c.5T>G (p.Met2Arg)
c.64+8578A>C (p.=)
n.46T>G
n.335+8578A>C
n.330+8578A>C
c.-283+8578A>C (p.=)
3g.8733881T=CA1344396466CAV3,SSUH2c.5T= (p.Met2=)
c.64+8578A= (p.=)
n.46T=
n.335+8578A=
n.330+8578A=
c.-283+8578A= (p.=)
3g.8733881_8733883delinsTGGCA1344396465CAV3,SSUH2c.5_7delinsTGG (p.Met2=)
c.64+8576_64+8578delinsCCA (p.=)
n.46_48delinsTGG
n.335+8576_335+8578delinsCCA
n.330+8576_330+8578delinsCCA
c.-283+8576_-283+8578delinsCCA (p.=)
3g.8733882G>ACA351661135CAV3,SSUH2c.6G>A (p.Met2Ile)
c.64+8577C>T (p.=)
n.47G>A
n.335+8577C>T
n.330+8577C>T
c.-283+8577C>T (p.=)
3g.8733882G>CCA351661137CAV3,SSUH2c.6G>C (p.Met2Ile)
c.64+8577C>G (p.=)
n.47G>C
n.335+8577C>G
n.330+8577C>G
c.-283+8577C>G (p.=)
3g.8733882G>TCA351661136CAV3,SSUH2c.6G>T (p.Met2Ile)
c.64+8577C>A (p.=)
n.47G>T
n.335+8577C>A
n.330+8577C>A
c.-283+8577C>A (p.=)
3g.8733882_8733883delCA16611374CAV3,SSUH2c.6_7del (p.Met2IlefsTer21)
c.64+8576_64+8577del (p.=)
n.47_48del
n.335+8576_335+8577del
n.330+8576_330+8577del
c.-283+8576_-283+8577del (p.=)
ClinVar dbSNP
3g.8733882_8733890delinsGGCAGAAGACA1344396475CAV3,SSUH2c.6_14delinsGGCAGAAGA (p.Met2=)
c.64+8569_64+8577delinsTCTTCTGCC (p.=)
n.47_55delinsGGCAGAAGA
n.335+8569_335+8577delinsTCTTCTGCC
n.330+8569_330+8577delinsTCTTCTGCC
c.-283+8569_-283+8577delinsTCTTCTGCC (p.=)
3g.8733883G>ACA351661138CAV3,SSUH2c.7G>A (p.Ala3Thr)
c.64+8576C>T (p.=)
n.48G>A
n.335+8576C>T
n.330+8576C>T
c.-283+8576C>T (p.=)
gnomAD
3g.8733883G>CCA351661140CAV3,SSUH2c.7G>C (p.Ala3Pro)
c.64+8576C>G (p.=)
n.48G>C
n.335+8576C>G
n.330+8576C>G
c.-283+8576C>G (p.=)
3g.8733883G=CA1344396484CAV3,SSUH2c.7G= (p.Ala3=)
c.64+8576C= (p.=)
n.48G=
n.335+8576C=
n.330+8576C=
c.-283+8576C= (p.=)
3g.8733883G>TCA351661142CAV3,SSUH2c.7G>T (p.Ala3Ser)
c.64+8576C>A (p.=)
n.48G>T
n.335+8576C>A
n.330+8576C>A
c.-283+8576C>A (p.=)
3g.8733886_8733893delCA2236276CAV3,SSUH2c.10_17del (p.Glu4HisfsTer17)
c.64+8569_64+8576del (p.=)
n.51_58del
n.335+8569_335+8576del
n.330+8569_330+8576del
c.-283+8569_-283+8576del (p.=)
ClinVar dbSNP dbSNP ExAC gnomAD
3g.8733884C>ACA351661144CAV3,SSUH2c.8C>A (p.Ala3Glu)
c.64+8575G>T (p.=)
n.49C>A
n.335+8575G>T
n.330+8575G>T
c.-283+8575G>T (p.=)
3g.8733884C>GCA351661146CAV3,SSUH2c.8C>G (p.Ala3Gly)
c.64+8575G>C (p.=)
n.49C>G
n.335+8575G>C
n.330+8575G>C
c.-283+8575G>C (p.=)
3g.8733884C>TCA351661148CAV3,SSUH2c.8C>T (p.Ala3Val)
c.64+8575G>A (p.=)
n.49C>T
n.335+8575G>A
n.330+8575G>A
c.-283+8575G>A (p.=)
3g.8733885A>CCA432356389CAV3,SSUH2c.9A>C (p.Ala3=)
c.64+8574T>G (p.=)
n.50A>C
n.335+8574T>G
n.330+8574T>G
c.-283+8574T>G (p.=)
3g.8733885A>GCA432356391CAV3,SSUH2c.9A>G (p.Ala3=)
c.64+8574T>C (p.=)
n.50A>G
n.335+8574T>C
n.330+8574T>C
c.-283+8574T>C (p.=)
3g.8733885A>TCA432356390CAV3,SSUH2c.9A>T (p.Ala3=)
c.64+8574T>A (p.=)
n.50A>T
n.335+8574T>A
n.330+8574T>A
c.-283+8574T>A (p.=)
3g.8733886G>ACA351661149CAV3,SSUH2c.10G>A (p.Glu4Lys)
c.64+8573C>T (p.=)
n.51G>A
n.335+8573C>T
n.330+8573C>T
c.-283+8573C>T (p.=)
gnomAD
3g.8733886G>CCA351661150CAV3,SSUH2c.10G>C (p.Glu4Gln)
c.64+8573C>G (p.=)
n.51G>C
n.335+8573C>G
n.330+8573C>G
c.-283+8573C>G (p.=)
3g.8733886G=CA1344396486CAV3,SSUH2c.10G= (p.Glu4=)
c.64+8573C= (p.=)
n.51G=
n.335+8573C=
n.330+8573C=
c.-283+8573C= (p.=)
3g.8733886G>TCA351661151CAV3,SSUH2c.10G>T (p.Glu4Ter)
c.64+8573C>A (p.=)
n.51G>T
n.335+8573C>A
n.330+8573C>A
c.-283+8573C>A (p.=)
3g.8733887A>CCA351661156CAV3,SSUH2c.11A>C (p.Glu4Ala)
c.64+8572T>G (p.=)
n.52A>C
n.335+8572T>G
n.330+8572T>G
c.-283+8572T>G (p.=)
3g.8733887A>GCA351661155CAV3,SSUH2c.11A>G (p.Glu4Gly)
c.64+8572T>C (p.=)
n.52A>G
n.335+8572T>C
n.330+8572T>C
c.-283+8572T>C (p.=)
3g.8733887A>TCA351661154CAV3,SSUH2c.11A>T (p.Glu4Val)
c.64+8572T>A (p.=)
n.52A>T
n.335+8572T>A
n.330+8572T>A
c.-283+8572T>A (p.=)
3g.8733888A=CA1344396490CAV3,SSUH2c.12A= (p.Glu4=)
c.64+8571T= (p.=)
n.53A=
n.335+8571T=
n.330+8571T=
c.-283+8571T= (p.=)
3g.8733888A>CCA351661157CAV3,SSUH2c.12A>C (p.Glu4Asp)
c.64+8571T>G (p.=)
n.53A>C
n.335+8571T>G
n.330+8571T>G
c.-283+8571T>G (p.=)
3g.8733888A>GCA432356392CAV3,SSUH2c.12A>G (p.Glu4=)
c.64+8571T>C (p.=)
n.53A>G
n.335+8571T>C
n.330+8571T>C
c.-283+8571T>C (p.=)
3g.8733888A>TCA351661158CAV3,SSUH2c.12A>T (p.Glu4Asp)
c.64+8571T>A (p.=)
n.53A>T
n.335+8571T>A
n.330+8571T>A
c.-283+8571T>A (p.=)

Number of alleles fetched