Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45804022_45804026dupCA996342882RSPH6Ac.1653+245_1653+249dup (n.1653+245_1653+249dup)
c.861+245_861+249dup (n.861+245_861+249dup)
dbSNP gnomAD v3 gnomAD v4
19g.45804022_45804026delCA633359350RSPH6Ac.1653+245_1653+249del (n.1653+245_1653+249del)
c.861+245_861+249del (n.861+245_861+249del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804017_45804026delCA633359349RSPH6Ac.1653+240_1653+249del (n.1653+240_1653+249del)
c.861+240_861+249del (n.861+240_861+249del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804012_45804023delinsGAAAAGAAAAGACA2338614819RSPH6Ac.1653+229_1653+240delinsTCTTTTCTTTTC (n.1653+229_1653+240delinsTCTTTTCTTTTC)
c.861+229_861+240delinsTCTTTTCTTTTC (n.861+229_861+240delinsTCTTTTCTTTTC)
19g.45804022_45804032delCA882762755RSPH6Ac.1653+229_1653+239del (n.1653+229_1653+239del)
c.861+229_861+239del (n.861+229_861+239del)
dbSNP gnomAD v3 gnomAD v4
19g.45804021_45804022insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACA2814566568RSPH6Ac.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
19g.45804021_45804022insAGAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAACA996342933RSPH6Ac.1653+234_1653+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+234_1653+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT)
c.861+234_861+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+234_861+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT)
gnomAD v3 gnomAD v4
19g.45804021_45804022insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA996342934RSPH6Ac.1653+234_1653+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+234_1653+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT)
c.861+234_861+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+234_861+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT)
gnomAD v3 gnomAD v4
19g.45804021dupCA308996907RSPH6Ac.1653+234dup (n.1653+234dup)
c.861+234dup (n.861+234dup)
dbSNP gnomAD v3 gnomAD v4
19g.45804021_45804022delinsAGCA2338614821RSPH6Ac.1653+230_1653+231delinsCT (n.1653+230_1653+231delinsCT)
c.861+230_861+231delinsCT (n.861+230_861+231delinsCT)
19g.45804022delCA308996908RSPH6Ac.1653+230del (n.1653+230del)
c.861+230del (n.861+230del)
dbSNP
19g.45804022G>ACA308996910RSPH6Ac.1653+230C>T (n.1653+230C>T)
c.861+230C>T (n.861+230C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804022G>CCA2814566569RSPH6Ac.1653+230C>G (n.1653+230C>G)
c.861+230C>G (n.861+230C>G)
19g.45804022G=CA2338614823RSPH6Ac.1653+230C= (n.1653+230C=)
c.861+230C= (n.861+230C=)
19g.45804022G>TCA882762761RSPH6Ac.1653+230C>A (n.1653+230C>A)
c.861+230C>A (n.861+230C>A)
dbSNP gnomAD v3 gnomAD v4
19g.45804022_45804031delinsGAAAAAGAAACA2338614822RSPH6Ac.1653+221_1653+230delinsTTTCTTTTTC (n.1653+221_1653+230delinsTTTCTTTTTC)
c.861+221_861+230delinsTTTCTTTTTC (n.861+221_861+230delinsTTTCTTTTTC)
19g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAAAAAACA996342938RSPH6Ac.1653+229_1653+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+229_1653+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT)
c.861+229_861+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+229_861+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT)
gnomAD v3 gnomAD v4
19g.45804031_45804039delCA2338614824RSPH6Ac.1653+221_1653+229del (n.1653+221_1653+229del)
c.861+221_861+229del (n.861+221_861+229del)
dbSNP
19g.45804024A=CA2338614825RSPH6Ac.1653+228T= (n.1653+228T=)
c.861+228T= (n.861+228T=)
19g.45804024A>GCA308996912RSPH6Ac.1653+228T>C (n.1653+228T>C)
c.861+228T>C (n.861+228T>C)
dbSNP
19g.45804024_45804028delinsAAAAGCA2338614826RSPH6Ac.1653+224_1653+228delinsCTTTT (n.1653+224_1653+228delinsCTTTT)
c.861+224_861+228delinsCTTTT (n.861+224_861+228delinsCTTTT)
19g.45804025A=CA2338614827RSPH6Ac.1653+227T= (n.1653+227T=)
c.861+227T= (n.861+227T=)
19g.45804025A>GCA308996915RSPH6Ac.1653+227T>C (n.1653+227T>C)
c.861+227T>C (n.861+227T>C)
dbSNP
19g.45804028_45804031delCA882762772RSPH6Ac.1653+224_1653+227del (n.1653+224_1653+227del)
c.861+224_861+227del (n.861+224_861+227del)
dbSNP
19g.45804028G>ACA633359355RSPH6Ac.1653+224C>T (n.1653+224C>T)
c.861+224C>T (n.861+224C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804028G=CA2338614828RSPH6Ac.1653+224C= (n.1653+224C=)
c.861+224C= (n.861+224C=)
19g.45804028G>TCA2741634619RSPH6Ac.1653+224C>A (n.1653+224C>A)
c.861+224C>A (n.861+224C>A)
19g.45804028_45804031delinsGAAACA2338614829RSPH6Ac.1653+221_1653+224delinsTTTC (n.1653+221_1653+224delinsTTTC)
c.861+221_861+224delinsTTTC (n.861+221_861+224delinsTTTC)
19g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAACA996342940RSPH6Ac.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT (n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT)
c.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT (n.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT)
gnomAD v3 gnomAD v4
19g.45804036dupCA633359356RSPH6Ac.1653+223dup (n.1653+223dup)
c.861+223dup (n.861+223dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804034_45804036delCA996342942RSPH6Ac.1653+221_1653+223del (n.1653+221_1653+223del)
c.861+221_861+223del (n.861+221_861+223del)
dbSNP gnomAD v3 gnomAD v4
19g.45804032_45804037delinsAAAAAGCA2338614830RSPH6Ac.1653+215_1653+220delinsCTTTTT (n.1653+215_1653+220delinsCTTTTT)
c.861+215_861+220delinsCTTTTT (n.861+215_861+220delinsCTTTTT)
19g.45804035_45804039delCA2338614831RSPH6Ac.1653+215_1653+219del (n.1653+215_1653+219del)
c.861+215_861+219del (n.861+215_861+219del)
dbSNP
19g.45804034A>TCA2741634620RSPH6Ac.1653+218T>A (n.1653+218T>A)
c.861+218T>A (n.861+218T>A)
19g.45804035A=CA2338614832RSPH6Ac.1653+217T= (n.1653+217T=)
c.861+217T= (n.861+217T=)
19g.45804035A>GCA308996917RSPH6Ac.1653+217T>C (n.1653+217T>C)
c.861+217T>C (n.861+217T>C)
dbSNP gnomAD v3 gnomAD v4
19g.45804036A=CA2338614833RSPH6Ac.1653+216T= (n.1653+216T=)
c.861+216T= (n.861+216T=)
19g.45804036_45804040delinsAGAAGCA2338614834RSPH6Ac.1653+212_1653+216delinsCTTCT (n.1653+212_1653+216delinsCTTCT)
c.861+212_861+216delinsCTTCT (n.861+212_861+216delinsCTTCT)
19g.45804037G>ACA882762785RSPH6Ac.1653+215C>T (n.1653+215C>T)
c.861+215C>T (n.861+215C>T)
dbSNP gnomAD v3 gnomAD v4
19g.45804037G=CA2338614835RSPH6Ac.1653+215C= (n.1653+215C=)
c.861+215C= (n.861+215C=)
19g.45804037dupCA882762780RSPH6Ac.1653+215dup (n.1653+215dup)
c.861+215dup (n.861+215dup)
dbSNP gnomAD v3 gnomAD v4
19g.45804037_45804040delCA996342946RSPH6Ac.1653+212_1653+215del (n.1653+212_1653+215del)
c.861+212_861+215del (n.861+212_861+215del)
dbSNP gnomAD v3 gnomAD v4
19g.45804037_45804041delinsGAAGACA2338614836RSPH6Ac.1653+211_1653+215delinsTCTTC (n.1653+211_1653+215delinsTCTTC)
c.861+211_861+215delinsTCTTC (n.861+211_861+215delinsTCTTC)
19g.45804048_45804051delCA633359357RSPH6Ac.1653+211_1653+214del (n.1653+211_1653+214del)
c.861+211_861+214del (n.861+211_861+214del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804040G>ACA996342955RSPH6Ac.1653+212C>T (n.1653+212C>T)
c.861+212C>T (n.861+212C>T)
gnomAD v3 gnomAD v4
19g.45804042A=CA2338614837RSPH6Ac.1653+210T= (n.1653+210T=)
c.861+210T= (n.861+210T=)
19g.45804042A>CCA996342956RSPH6Ac.1653+210T>G (n.1653+210T>G)
c.861+210T>G (n.861+210T>G)
dbSNP gnomAD v3 gnomAD v4
19g.45804044G>ACA996342960RSPH6Ac.1653+208C>T (n.1653+208C>T)
c.861+208C>T (n.861+208C>T)
dbSNP gnomAD v3 gnomAD v4
19g.45804044G=CA2338614838RSPH6Ac.1653+208C= (n.1653+208C=)
c.861+208C= (n.861+208C=)
19g.45804045A=CA2338614839RSPH6Ac.1653+207T= (n.1653+207T=)
c.861+207T= (n.861+207T=)
19g.45804045A>GCA308996920RSPH6Ac.1653+207T>C (n.1653+207T>C)
c.861+207T>C (n.861+207T>C)
dbSNP gnomAD v3 gnomAD v4
19g.45804053_45804057dupCA308996919RSPH6Ac.1653+203_1653+207dup (n.1653+203_1653+207dup)
c.861+203_861+207dup (n.861+203_861+207dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804047A=CA2338614840RSPH6Ac.1653+205T= (n.1653+205T=)
c.861+205T= (n.861+205T=)
19g.45804047A>GCA996342967RSPH6Ac.1653+205T>C (n.1653+205T>C)
c.861+205T>C (n.861+205T>C)
dbSNP gnomAD v3 gnomAD v4
19g.45804048G>ACA308996922RSPH6Ac.1653+204C>T (n.1653+204C>T)
c.861+204C>T (n.861+204C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804048G=CA2338614841RSPH6Ac.1653+204C= (n.1653+204C=)
c.861+204C= (n.861+204C=)
19g.45804048G>TCA657534327RSPH6Ac.1653+204C>A (n.1653+204C>A)
c.861+204C>A (n.861+204C>A)
COSMIC
19g.45804053G>ACA996342974RSPH6Ac.1653+199C>T (n.1653+199C>T)
c.861+199C>T (n.861+199C>T)
gnomAD v3 gnomAD v4
19g.45804053_45804054delinsGACA2338614842RSPH6Ac.1653+198_1653+199delinsTC (n.1653+198_1653+199delinsTC)
c.861+198_861+199delinsTC (n.861+198_861+199delinsTC)
19g.45804054A=CA2338614843RSPH6Ac.1653+198T= (n.1653+198T=)
c.861+198T= (n.861+198T=)
19g.45804054A>GCA2338614844RSPH6Ac.1653+198T>C (n.1653+198T>C)
c.861+198T>C (n.861+198T>C)
dbSNP
19g.45804062dupCA308996925RSPH6Ac.1653+198dup (n.1653+198dup)
c.861+198dup (n.861+198dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804062delCA308996926RSPH6Ac.1653+198del (n.1653+198del)
c.861+198del (n.861+198del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804055A=CA2338614845RSPH6Ac.1653+197T= (n.1653+197T=)
c.861+197T= (n.861+197T=)
19g.45804055_45804056insGTCA2338614846RSPH6Ac.1653+196_1653+197insAC (n.1653+196_1653+197insAC)
c.861+196_861+197insAC (n.861+196_861+197insAC)
dbSNP
19g.45804058A=CA2338614847RSPH6Ac.1653+194T= (n.1653+194T=)
c.861+194T= (n.861+194T=)
19g.45804058A>GCA308996929RSPH6Ac.1653+194T>C (n.1653+194T>C)
c.861+194T>C (n.861+194T>C)
dbSNP gnomAD v3 gnomAD v4
19g.45804059A=CA2338614848RSPH6Ac.1653+193T= (n.1653+193T=)
c.861+193T= (n.861+193T=)
19g.45804059_45804060insCTGGCA2338614849RSPH6Ac.1653+192_1653+193insCCAG (n.1653+192_1653+193insCCAG)
c.861+192_861+193insCCAG (n.861+192_861+193insCCAG)
dbSNP
19g.45804060A=CA2338614850RSPH6Ac.1653+192T= (n.1653+192T=)
c.861+192T= (n.861+192T=)
19g.45804060A>CCA882762796RSPH6Ac.1653+192T>G (n.1653+192T>G)
c.861+192T>G (n.861+192T>G)
dbSNP
19g.45804060A>TCA308996932RSPH6Ac.1653+192T>A (n.1653+192T>A)
c.861+192T>A (n.861+192T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804062_45804063insATTCCCAAGTTTGTGGAAATTAAACAACA2338614851RSPH6Ac.1653+191_1653+192insGTTTAATTTCCACAAACTTGGGAATTT (n.1653+191_1653+192insGTTTAATTTCCACAAACTTGGGAATTT)
c.861+191_861+192insGTTTAATTTCCACAAACTTGGGAATTT (n.861+191_861+192insGTTTAATTTCCACAAACTTGGGAATTT)
dbSNP
19g.45804061_45804062insTCA2582198549RSPH6Ac.1653+190_1653+191insA (n.1653+190_1653+191insA)
c.861+190_861+191insA (n.861+190_861+191insA)
gnomAD v3 gnomAD v4
19g.45804062A=CA2338614852RSPH6Ac.1653+190T= (n.1653+190T=)
c.861+190T= (n.861+190T=)
19g.45804062A>TCA2338614853RSPH6Ac.1653+190T>A (n.1653+190T>A)
c.861+190T>A (n.861+190T>A)
dbSNP
19g.45804063T>ACA2582198550RSPH6Ac.1653+189A>T (n.1653+189A>T)
c.861+189A>T (n.861+189A>T)
gnomAD v3 gnomAD v4
19g.45804065C=CA2338614854RSPH6Ac.1653+187G= (n.1653+187G=)
c.861+187G= (n.861+187G=)
19g.45804065C>TCA633359358RSPH6Ac.1653+187G>A (n.1653+187G>A)
c.861+187G>A (n.861+187G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804066C>ACA2338614856RSPH6Ac.1653+186G>T (n.1653+186G>T)
c.861+186G>T (n.861+186G>T)
dbSNP
19g.45804066C=CA2338614855RSPH6Ac.1653+186G= (n.1653+186G=)
c.861+186G= (n.861+186G=)
19g.45804066C>TCA2338614857RSPH6Ac.1653+186G>A (n.1653+186G>A)
c.861+186G>A (n.861+186G>A)
dbSNP
19g.45804068C=CA2338614858RSPH6Ac.1653+184G= (n.1653+184G=)
c.861+184G= (n.861+184G=)
19g.45804068C>TCA882762806RSPH6Ac.1653+184G>A (n.1653+184G>A)
c.861+184G>A (n.861+184G>A)
dbSNP gnomAD v3 gnomAD v4
19g.45804073C=CA2338614859RSPH6Ac.1653+179G= (n.1653+179G=)
c.861+179G= (n.861+179G=)
19g.45804073C>TCA308996934RSPH6Ac.1653+179G>A (n.1653+179G>A)
c.861+179G>A (n.861+179G>A)
dbSNP
19g.45804076A=CA2338614860RSPH6Ac.1653+176T= (n.1653+176T=)
c.861+176T= (n.861+176T=)
19g.45804076A>TCA996343006RSPH6Ac.1653+176T>A (n.1653+176T>A)
c.861+176T>A (n.861+176T>A)
dbSNP gnomAD v3 gnomAD v4
19g.45804077A=CA2338614861RSPH6Ac.1653+175T= (n.1653+175T=)
c.861+175T= (n.861+175T=)
19g.45804077A>GCA882762810RSPH6Ac.1653+175T>C (n.1653+175T>C)
c.861+175T>C (n.861+175T>C)
dbSNP gnomAD v3 gnomAD v4
19g.45804089G>ACA2338614863RSPH6Ac.1653+163C>T (n.1653+163C>T)
c.861+163C>T (n.861+163C>T)
dbSNP
19g.45804089G=CA2338614862RSPH6Ac.1653+163C= (n.1653+163C=)
c.861+163C= (n.861+163C=)
19g.45804091G>ACA2582198551RSPH6Ac.1653+161C>T (n.1653+161C>T)
c.861+161C>T (n.861+161C>T)
dbSNP gnomAD v3 gnomAD v4
19g.45804091G>CCA882762813RSPH6Ac.1653+161C>G (n.1653+161C>G)
c.861+161C>G (n.861+161C>G)
dbSNP
19g.45804091G=CA2338614864RSPH6Ac.1653+161C= (n.1653+161C=)
c.861+161C= (n.861+161C=)
19g.45804098C>ACA308996937RSPH6Ac.1653+154G>T (n.1653+154G>T)
c.861+154G>T (n.861+154G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804098C=CA2338614865RSPH6Ac.1653+154G= (n.1653+154G=)
c.861+154G= (n.861+154G=)
19g.45804098C>TCA308996938RSPH6Ac.1653+154G>A (n.1653+154G>A)
c.861+154G>A (n.861+154G>A)
dbSNP gnomAD v3 gnomAD v4
19g.45804099G>ACA308996941RSPH6Ac.1653+153C>T (n.1653+153C>T)
c.861+153C>T (n.861+153C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804099G=CA2338614866RSPH6Ac.1653+153C= (n.1653+153C=)
c.861+153C= (n.861+153C=)
19g.45804101T>CCA2585868875RSPH6Ac.1653+151A>G (n.1653+151A>G)
c.861+151A>G (n.861+151A>G)
gnomAD v4
19g.45804102A>GCA2585868876RSPH6Ac.1653+150T>C (n.1653+150T>C)
c.861+150T>C (n.861+150T>C)
gnomAD v4
19g.45804103A=CA2338614867RSPH6Ac.1653+149T= (n.1653+149T=)
c.861+149T= (n.861+149T=)
19g.45804103A>GCA996343017RSPH6Ac.1653+149T>C (n.1653+149T>C)
c.861+149T>C (n.861+149T>C)
dbSNP gnomAD v3 gnomAD v4
19g.45804104T>CCA308996943RSPH6Ac.1653+148A>G (n.1653+148A>G)
c.861+148A>G (n.861+148A>G)
dbSNP gnomAD v4
19g.45804104T=CA2338614868RSPH6Ac.1653+148A= (n.1653+148A=)
c.861+148A= (n.861+148A=)
19g.45804106T>ACA2585868877RSPH6Ac.1653+146A>T (n.1653+146A>T)
c.861+146A>T (n.861+146A>T)
gnomAD v4
19g.45804106T>CCA882762819RSPH6Ac.1653+146A>G (n.1653+146A>G)
c.861+146A>G (n.861+146A>G)
dbSNP gnomAD v3 gnomAD v4
19g.45804106T=CA2338614869RSPH6Ac.1653+146A= (n.1653+146A=)
c.861+146A= (n.861+146A=)
19g.45804107C>ACA2585868878RSPH6Ac.1653+145G>T (n.1653+145G>T)
c.861+145G>T (n.861+145G>T)
gnomAD v4
19g.45804107C=CA2338614870RSPH6Ac.1653+145G= (n.1653+145G=)
c.861+145G= (n.861+145G=)
19g.45804107C>TCA308996944RSPH6Ac.1653+145G>A (n.1653+145G>A)
c.861+145G>A (n.861+145G>A)
dbSNP gnomAD v3 gnomAD v4
19g.45804109G>ACA882762820RSPH6Ac.1653+143C>T (n.1653+143C>T)
c.861+143C>T (n.861+143C>T)
dbSNP gnomAD v4
19g.45804109G=CA2338614871RSPH6Ac.1653+143C= (n.1653+143C=)
c.861+143C= (n.861+143C=)
19g.45804109G>TCA2585868879RSPH6Ac.1653+143C>A (n.1653+143C>A)
c.861+143C>A (n.861+143C>A)
gnomAD v4
19g.45804110T>CCA2585868880RSPH6Ac.1653+142A>G (n.1653+142A>G)
c.861+142A>G (n.861+142A>G)
gnomAD v4
19g.45804111T>CCA308996946RSPH6Ac.1653+141A>G (n.1653+141A>G)
c.861+141A>G (n.861+141A>G)
dbSNP gnomAD v3 gnomAD v4
19g.45804111T=CA2338614872RSPH6Ac.1653+141A= (n.1653+141A=)
c.861+141A= (n.861+141A=)
19g.45804112G>ACA2585868881RSPH6Ac.1653+140C>T (n.1653+140C>T)
c.861+140C>T (n.861+140C>T)
gnomAD v4
19g.45804112G>TCA2585868882RSPH6Ac.1653+140C>A (n.1653+140C>A)
c.861+140C>A (n.861+140C>A)
gnomAD v4
19g.45804113A>CCA2814566570RSPH6Ac.1653+139T>G (n.1653+139T>G)
c.861+139T>G (n.861+139T>G)
19g.45804115C>TCA2585868883RSPH6Ac.1653+137G>A (n.1653+137G>A)
c.861+137G>A (n.861+137G>A)
gnomAD v4
19g.45804116C>ACA2585868884RSPH6Ac.1653+136G>T (n.1653+136G>T)
c.861+136G>T (n.861+136G>T)
gnomAD v4
19g.45804117A=CA2338614873RSPH6Ac.1653+135T= (n.1653+135T=)
c.861+135T= (n.861+135T=)
19g.45804117A>CCA882762825RSPH6Ac.1653+135T>G (n.1653+135T>G)
c.861+135T>G (n.861+135T>G)
dbSNP gnomAD v3 gnomAD v4
19g.45804121_45804124delCA2814566571RSPH6Ac.1653+132_1653+135del (n.1653+132_1653+135del)
c.861+132_861+135del (n.861+132_861+135del)
19g.45804118A>GCA2585868885RSPH6Ac.1653+134T>C (n.1653+134T>C)
c.861+134T>C (n.861+134T>C)
gnomAD v4
19g.45804119T>ACA2585868886RSPH6Ac.1653+133A>T (n.1653+133A>T)
c.861+133A>T (n.861+133A>T)
gnomAD v4
19g.45804119T>CCA2585868887RSPH6Ac.1653+133A>G (n.1653+133A>G)
c.861+133A>G (n.861+133A>G)
gnomAD v4
19g.45804119T>GCA2585868888RSPH6Ac.1653+133A>C (n.1653+133A>C)
c.861+133A>C (n.861+133A>C)
gnomAD v4

Number of alleles fetched