Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.8733862C>ACA181177CAV3,SSUH2c.-15C>A (p.=)
c.64+8597G>T (p.=)
c.-283+8597G>T (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733862C>TCA540845446CAV3,SSUH2c.-15C>T (p.=)
c.64+8597G>A (p.=)
c.-283+8597G>A (p.=)
gnomAD
3g.8733867dupCA2236271CAV3,SSUH2c.-10dup (p.=)
c.64+8597dup (p.=)
c.-283+8597dup (p.=)
dbSNP ExAC gnomAD COSMIC
3g.8733862delCA647438092CAV3,SSUH2c.-15del (p.=)
c.64+8592del (p.=)
c.-283+8592del (p.=)
COSMIC
3g.8733863C>ACA2236272CAV3,SSUH2c.-14C>A (p.=)
c.64+8596G>T (p.=)
c.-283+8596G>T (p.=)
dbSNP ExAC gnomAD
3g.8733865C>TCA911554360CAV3,SSUH2c.-12C>T (p.=)
c.64+8594G>A (p.=)
c.-283+8594G>A (p.=)
3g.8733867C>ACA2236273CAV3,SSUH2c.-10C>A (p.=)
c.64+8592G>T (p.=)
c.-283+8592G>T (p.=)
dbSNP ExAC gnomAD
3g.8733870C>ACA2236275CAV3,SSUH2c.-7C>A (p.=)
c.64+8589G>T (p.=)
c.-283+8589G>T (p.=)
dbSNP ExAC
3g.8733870C>TCA2236274CAV3,SSUH2c.-7C>T (p.=)
c.64+8589G>A (p.=)
c.-283+8589G>A (p.=)
dbSNP ExAC gnomAD
3g.8733872C>GCA540845447CAV3,SSUH2c.-5C>G (p.=)
c.64+8587G>C (p.=)
c.-283+8587G>C (p.=)
gnomAD
3g.8733874G>ACA911554366CAV3,SSUH2c.-3G>A (p.=)
c.64+8585C>T (p.=)
c.-283+8585C>T (p.=)
3g.8733875C>ACA915941858CAV3,SSUH2c.-2C>A (p.=)
c.64+8584G>T (p.=)
c.-283+8584G>T (p.=)
ClinVar
3g.8733875C>TCA238997CAV3,SSUH2c.-2C>T (p.=)
c.64+8584G>A (p.=)
c.-283+8584G>A (p.=)
ClinVar dbSNP gnomAD
3g.8733876G>ACA138555CAV3,SSUH2c.-1G>A (p.=)
c.64+8583C>T (p.=)
c.-283+8583C>T (p.=)
ClinVar dbSNP ExAC gnomAD
3g.8733876_8733878delCA911554373CAV3,SSUH2c.-1_2del (p.Met2del)
c.64+8577_64+8579del (p.=)
c.-283+8577_-283+8579del (p.=)
dbSNP
3g.8733877A>CCA351661121SSUH2c.64+8582T>G (p.=)
c.-283+8582T>G (p.=)
3g.8733877A>GCA351661123SSUH2c.64+8582T>C (p.=)
c.-283+8582T>C (p.=)
3g.8733877A>TCA351661122SSUH2c.64+8582T>A (p.=)
c.-283+8582T>A (p.=)
3g.8733878T>ACA351661124SSUH2c.64+8581A>T (p.=)
c.-283+8581A>T (p.=)
3g.8733878T>CCA351661125SSUH2c.64+8581A>G (p.=)
c.-283+8581A>G (p.=)
gnomAD
3g.8733878T>GCA351661126SSUH2c.64+8581A>C (p.=)
c.-283+8581A>C (p.=)
3g.8733879G>ACA351661127SSUH2c.64+8580C>T (p.=)
c.-283+8580C>T (p.=)
3g.8733879G>CCA351661128SSUH2c.64+8580C>G (p.=)
c.-283+8580C>G (p.=)
3g.8733879G>TCA351661129SSUH2c.64+8580C>A (p.=)
c.-283+8580C>A (p.=)
3g.8733880A>CCA351661130CAV3,SSUH2c.4A>C (p.Met2Leu)
c.64+8579T>G (p.=)
c.-283+8579T>G (p.=)
3g.8733880A>GCA351661131CAV3,SSUH2c.4A>G (p.Met2Val)
c.64+8579T>C (p.=)
c.-283+8579T>C (p.=)
3g.8733880A>TCA351661132CAV3,SSUH2c.4A>T (p.Met2Leu)
c.64+8579T>A (p.=)
c.-283+8579T>A (p.=)
3g.8733881T>ACA351661133CAV3,SSUH2c.5T>A (p.Met2Lys)
c.64+8578A>T (p.=)
c.-283+8578A>T (p.=)
3g.8733881T>CCA69861834CAV3,SSUH2c.5T>C (p.Met2Thr)
c.64+8578A>G (p.=)
c.-283+8578A>G (p.=)
ClinVar dbSNP
3g.8733881T>GCA351661134CAV3,SSUH2c.5T>G (p.Met2Arg)
c.64+8578A>C (p.=)
c.-283+8578A>C (p.=)
3g.8733882G>ACA351661135CAV3,SSUH2c.6G>A (p.Met2Ile)
c.64+8577C>T (p.=)
c.-283+8577C>T (p.=)
3g.8733882G>CCA351661137CAV3,SSUH2c.6G>C (p.Met2Ile)
c.64+8577C>G (p.=)
c.-283+8577C>G (p.=)
3g.8733882G>TCA351661136CAV3,SSUH2c.6G>T (p.Met2Ile)
c.64+8577C>A (p.=)
c.-283+8577C>A (p.=)
3g.8733882_8733883delCA16611374CAV3,SSUH2c.6_7del (p.Met2IlefsTer21)
c.64+8576_64+8577del (p.=)
c.-283+8576_-283+8577del (p.=)
ClinVar dbSNP
3g.8733883G>ACA351661138CAV3,SSUH2c.7G>A (p.Ala3Thr)
c.64+8576C>T (p.=)
c.-283+8576C>T (p.=)
gnomAD
3g.8733883G>CCA351661140CAV3,SSUH2c.7G>C (p.Ala3Pro)
c.64+8576C>G (p.=)
c.-283+8576C>G (p.=)
3g.8733883G>TCA351661142CAV3,SSUH2c.7G>T (p.Ala3Ser)
c.64+8576C>A (p.=)
c.-283+8576C>A (p.=)
3g.8733883_8733890delCA2236276CAV3,SSUH2c.7_14del (p.Glu4HisfsTer17)
c.64+8566_64+8573del (p.=)
c.-283+8566_-283+8573del (p.=)
ClinVar dbSNP dbSNP ExAC gnomAD
3g.8733884C>ACA351661144CAV3,SSUH2c.8C>A (p.Ala3Glu)
c.64+8575G>T (p.=)
c.-283+8575G>T (p.=)
3g.8733884C>GCA351661146CAV3,SSUH2c.8C>G (p.Ala3Gly)
c.64+8575G>C (p.=)
c.-283+8575G>C (p.=)
3g.8733884C>TCA351661148CAV3,SSUH2c.8C>T (p.Ala3Val)
c.64+8575G>A (p.=)
c.-283+8575G>A (p.=)
3g.8733885A>CCA432356389CAV3,SSUH2c.9A>C (p.Ala3=)
c.64+8574T>G (p.=)
c.-283+8574T>G (p.=)
3g.8733885A>GCA432356391CAV3,SSUH2c.9A>G (p.Ala3=)
c.64+8574T>C (p.=)
c.-283+8574T>C (p.=)
3g.8733885A>TCA432356390CAV3,SSUH2c.9A>T (p.Ala3=)
c.64+8574T>A (p.=)
c.-283+8574T>A (p.=)
3g.8733886G>ACA351661149CAV3,SSUH2c.10G>A (p.Glu4Lys)
c.64+8573C>T (p.=)
c.-283+8573C>T (p.=)
gnomAD
3g.8733886G>CCA351661150CAV3,SSUH2c.10G>C (p.Glu4Gln)
c.64+8573C>G (p.=)
c.-283+8573C>G (p.=)
3g.8733886G>TCA351661151CAV3,SSUH2c.10G>T (p.Glu4Ter)
c.64+8573C>A (p.=)
c.-283+8573C>A (p.=)
3g.8733887A>CCA351661156CAV3,SSUH2c.11A>C (p.Glu4Ala)
c.64+8572T>G (p.=)
c.-283+8572T>G (p.=)
3g.8733887A>GCA351661155CAV3,SSUH2c.11A>G (p.Glu4Gly)
c.64+8572T>C (p.=)
c.-283+8572T>C (p.=)
3g.8733887A>TCA351661154CAV3,SSUH2c.11A>T (p.Glu4Val)
c.64+8572T>A (p.=)
c.-283+8572T>A (p.=)

Number of alleles fetched