Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189868524G>ACA2669042471TP63c.993-56G>A (n.993-56G>A)
c.711-56G>A (n.711-56G>A)
c.456-56G>A (n.456-56G>A)
n.817-56G>A
c.942-56G>A (n.942-56G>A)
c.990-56G>A (n.990-56G>A)
c.987-56G>A (n.987-56G>A)
c.954-56G>A (n.954-56G>A)
gnomAD v4
3g.189868524G>TCA2759859363TP63c.993-56G>T (n.993-56G>T)
c.711-56G>T (n.711-56G>T)
c.456-56G>T (n.456-56G>T)
n.817-56G>T
c.942-56G>T (n.942-56G>T)
c.990-56G>T (n.990-56G>T)
c.987-56G>T (n.987-56G>T)
c.954-56G>T (n.954-56G>T)
3g.189868525G>ACA2577989890TP63c.993-55G>A (n.993-55G>A)
c.711-55G>A (n.711-55G>A)
c.456-55G>A (n.456-55G>A)
n.817-55G>A
c.942-55G>A (n.942-55G>A)
c.990-55G>A (n.990-55G>A)
c.987-55G>A (n.987-55G>A)
c.954-55G>A (n.954-55G>A)
3g.189868525G>CCA2759859364TP63c.993-55G>C (n.993-55G>C)
c.711-55G>C (n.711-55G>C)
c.456-55G>C (n.456-55G>C)
n.817-55G>C
c.942-55G>C (n.942-55G>C)
c.990-55G>C (n.990-55G>C)
c.987-55G>C (n.987-55G>C)
c.954-55G>C (n.954-55G>C)
3g.189868525G=CA1428495531TP63c.993-55G= (n.993-55G=)
c.711-55G= (n.711-55G=)
c.456-55G= (n.456-55G=)
n.817-55G=
c.942-55G= (n.942-55G=)
c.990-55G= (n.990-55G=)
c.987-55G= (n.987-55G=)
c.954-55G= (n.954-55G=)
3g.189868525G>TCA89746484TP63c.993-55G>T (n.993-55G>T)
c.711-55G>T (n.711-55G>T)
c.456-55G>T (n.456-55G>T)
n.817-55G>T
c.942-55G>T (n.942-55G>T)
c.990-55G>T (n.990-55G>T)
c.987-55G>T (n.987-55G>T)
c.954-55G>T (n.954-55G>T)
dbSNP gnomAD v3 gnomAD v4
3g.189868527C>ACA89746492TP63c.993-53C>A (n.993-53C>A)
c.711-53C>A (n.711-53C>A)
c.456-53C>A (n.456-53C>A)
n.817-53C>A
c.942-53C>A (n.942-53C>A)
c.990-53C>A (n.990-53C>A)
c.987-53C>A (n.987-53C>A)
c.954-53C>A (n.954-53C>A)
dbSNP
3g.189868527C=CA1428495537TP63c.993-53C= (n.993-53C=)
c.711-53C= (n.711-53C=)
c.456-53C= (n.456-53C=)
n.817-53C=
c.942-53C= (n.942-53C=)
c.990-53C= (n.990-53C=)
c.987-53C= (n.987-53C=)
c.954-53C= (n.954-53C=)
3g.189868527C>TCA1428495535TP63c.993-53C>T (n.993-53C>T)
c.711-53C>T (n.711-53C>T)
c.456-53C>T (n.456-53C>T)
n.817-53C>T
c.942-53C>T (n.942-53C>T)
c.990-53C>T (n.990-53C>T)
c.987-53C>T (n.987-53C>T)
c.954-53C>T (n.954-53C>T)
dbSNP
3g.189868530delCA2556467170TP63c.993-50del (n.993-50del)
c.711-50del (n.711-50del)
c.456-50del (n.456-50del)
n.817-50del
c.942-50del (n.942-50del)
c.990-50del (n.990-50del)
c.987-50del (n.987-50del)
c.954-50del (n.954-50del)
3g.189868531C>ACA904224300TP63c.993-49C>A (n.993-49C>A)
c.711-49C>A (n.711-49C>A)
c.456-49C>A (n.456-49C>A)
n.817-49C>A
c.942-49C>A (n.942-49C>A)
c.990-49C>A (n.990-49C>A)
c.987-49C>A (n.987-49C>A)
c.954-49C>A (n.954-49C>A)
dbSNP gnomAD v3 gnomAD v4
3g.189868531C=CA1428495540TP63c.993-49C= (n.993-49C=)
c.711-49C= (n.711-49C=)
c.456-49C= (n.456-49C=)
n.817-49C=
c.942-49C= (n.942-49C=)
c.990-49C= (n.990-49C=)
c.987-49C= (n.987-49C=)
c.954-49C= (n.954-49C=)
3g.189868531C>TCA548483584TP63c.993-49C>T (n.993-49C>T)
c.711-49C>T (n.711-49C>T)
c.456-49C>T (n.456-49C>T)
n.817-49C>T
c.942-49C>T (n.942-49C>T)
c.990-49C>T (n.990-49C>T)
c.987-49C>T (n.987-49C>T)
c.954-49C>T (n.954-49C>T)
dbSNP gnomAD v2 gnomAD v4
3g.189868532A=CA1428495542TP63c.993-48A= (n.993-48A=)
c.711-48A= (n.711-48A=)
c.456-48A= (n.456-48A=)
n.817-48A=
c.942-48A= (n.942-48A=)
c.990-48A= (n.990-48A=)
c.987-48A= (n.987-48A=)
c.954-48A= (n.954-48A=)
3g.189868532A>GCA2752313TP63c.993-48A>G (n.993-48A>G)
c.711-48A>G (n.711-48A>G)
c.456-48A>G (n.456-48A>G)
n.817-48A>G
c.942-48A>G (n.942-48A>G)
c.990-48A>G (n.990-48A>G)
c.987-48A>G (n.987-48A>G)
c.954-48A>G (n.954-48A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868533A=CA1428495547TP63c.993-47A= (n.993-47A=)
c.711-47A= (n.711-47A=)
c.456-47A= (n.456-47A=)
n.817-47A=
c.942-47A= (n.942-47A=)
c.990-47A= (n.990-47A=)
c.987-47A= (n.987-47A=)
c.954-47A= (n.954-47A=)
3g.189868533A>GCA548483585TP63c.993-47A>G (n.993-47A>G)
c.711-47A>G (n.711-47A>G)
c.456-47A>G (n.456-47A>G)
n.817-47A>G
c.942-47A>G (n.942-47A>G)
c.990-47A>G (n.990-47A>G)
c.987-47A>G (n.987-47A>G)
c.954-47A>G (n.954-47A>G)
dbSNP gnomAD v2 gnomAD v4
3g.189868535A>GCA2669042472TP63c.993-45A>G (n.993-45A>G)
c.711-45A>G (n.711-45A>G)
c.456-45A>G (n.456-45A>G)
n.817-45A>G
c.942-45A>G (n.942-45A>G)
c.990-45A>G (n.990-45A>G)
c.987-45A>G (n.987-45A>G)
c.954-45A>G (n.954-45A>G)
gnomAD v4
3g.189868537G>ACA2759859365TP63c.993-43G>A (n.993-43G>A)
c.711-43G>A (n.711-43G>A)
c.456-43G>A (n.456-43G>A)
n.817-43G>A
c.942-43G>A (n.942-43G>A)
c.990-43G>A (n.990-43G>A)
c.987-43G>A (n.987-43G>A)
c.954-43G>A (n.954-43G>A)
3g.189868537G>TCA2577989891TP63c.993-43G>T (n.993-43G>T)
c.711-43G>T (n.711-43G>T)
c.456-43G>T (n.456-43G>T)
n.817-43G>T
c.942-43G>T (n.942-43G>T)
c.990-43G>T (n.990-43G>T)
c.987-43G>T (n.987-43G>T)
c.954-43G>T (n.954-43G>T)
gnomAD v4
3g.189868538C=CA1428495553TP63c.993-42C= (n.993-42C=)
c.711-42C= (n.711-42C=)
c.456-42C= (n.456-42C=)
n.817-42C=
c.942-42C= (n.942-42C=)
c.990-42C= (n.990-42C=)
c.987-42C= (n.987-42C=)
c.954-42C= (n.954-42C=)
3g.189868538C>GCA1428495556TP63c.993-42C>G (n.993-42C>G)
c.711-42C>G (n.711-42C>G)
c.456-42C>G (n.456-42C>G)
n.817-42C>G
c.942-42C>G (n.942-42C>G)
c.990-42C>G (n.990-42C>G)
c.987-42C>G (n.987-42C>G)
c.954-42C>G (n.954-42C>G)
dbSNP gnomAD v4
3g.189868539T>CCA2704923953TP63c.993-41T>C (n.993-41T>C)
c.711-41T>C (n.711-41T>C)
c.456-41T>C (n.456-41T>C)
n.817-41T>C
c.942-41T>C (n.942-41T>C)
c.990-41T>C (n.990-41T>C)
c.987-41T>C (n.987-41T>C)
c.954-41T>C (n.954-41T>C)
dbSNP
3g.189868542_189868547delCA2669042473TP63c.993-38_993-33del (n.993-38_993-33del)
c.711-38_711-33del (n.711-38_711-33del)
c.456-38_456-33del (n.456-38_456-33del)
n.817-38_817-33del
c.942-38_942-33del (n.942-38_942-33del)
c.990-38_990-33del (n.990-38_990-33del)
c.987-38_987-33del (n.987-38_987-33del)
c.954-38_954-33del (n.954-38_954-33del)
gnomAD v4
3g.189868542G>ACA2577989892TP63c.993-38G>A (n.993-38G>A)
c.711-38G>A (n.711-38G>A)
c.456-38G>A (n.456-38G>A)
n.817-38G>A
c.942-38G>A (n.942-38G>A)
c.990-38G>A (n.990-38G>A)
c.987-38G>A (n.987-38G>A)
c.954-38G>A (n.954-38G>A)
gnomAD v4
3g.189868542G=CA1428495560TP63c.993-38G= (n.993-38G=)
c.711-38G= (n.711-38G=)
c.456-38G= (n.456-38G=)
n.817-38G=
c.942-38G= (n.942-38G=)
c.990-38G= (n.990-38G=)
c.987-38G= (n.987-38G=)
c.954-38G= (n.954-38G=)
3g.189868542G>TCA2669042474TP63c.993-38G>T (n.993-38G>T)
c.711-38G>T (n.711-38G>T)
c.456-38G>T (n.456-38G>T)
n.817-38G>T
c.942-38G>T (n.942-38G>T)
c.990-38G>T (n.990-38G>T)
c.987-38G>T (n.987-38G>T)
c.954-38G>T (n.954-38G>T)
gnomAD v4
3g.189868545_189868549dupCA2752314TP63c.993-35_993-31dup (n.993-35_993-31dup)
c.711-35_711-31dup (n.711-35_711-31dup)
c.456-35_456-31dup (n.456-35_456-31dup)
n.817-35_817-31dup
c.942-35_942-31dup (n.942-35_942-31dup)
c.990-35_990-31dup (n.990-35_990-31dup)
c.987-35_987-31dup (n.987-35_987-31dup)
c.954-35_954-31dup (n.954-35_954-31dup)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868544A>CCA2669042475TP63c.993-36A>C (n.993-36A>C)
c.711-36A>C (n.711-36A>C)
c.456-36A>C (n.456-36A>C)
n.817-36A>C
c.942-36A>C (n.942-36A>C)
c.990-36A>C (n.990-36A>C)
c.987-36A>C (n.987-36A>C)
c.954-36A>C (n.954-36A>C)
gnomAD v4
3g.189868545T>CCA1428495563TP63c.993-35T>C (n.993-35T>C)
c.711-35T>C (n.711-35T>C)
c.456-35T>C (n.456-35T>C)
n.817-35T>C
c.942-35T>C (n.942-35T>C)
c.990-35T>C (n.990-35T>C)
c.987-35T>C (n.987-35T>C)
c.954-35T>C (n.954-35T>C)
dbSNP
3g.189868545T=CA1428495565TP63c.993-35T= (n.993-35T=)
c.711-35T= (n.711-35T=)
c.456-35T= (n.456-35T=)
n.817-35T=
c.942-35T= (n.942-35T=)
c.990-35T= (n.990-35T=)
c.987-35T= (n.987-35T=)
c.954-35T= (n.954-35T=)
3g.189868548A=CA1428495568TP63c.993-32A= (n.993-32A=)
c.711-32A= (n.711-32A=)
c.456-32A= (n.456-32A=)
n.817-32A=
c.942-32A= (n.942-32A=)
c.990-32A= (n.990-32A=)
c.987-32A= (n.987-32A=)
c.954-32A= (n.954-32A=)
3g.189868548A>CCA2752315TP63c.993-32A>C (n.993-32A>C)
c.711-32A>C (n.711-32A>C)
c.456-32A>C (n.456-32A>C)
n.817-32A>C
c.942-32A>C (n.942-32A>C)
c.990-32A>C (n.990-32A>C)
c.987-32A>C (n.987-32A>C)
c.954-32A>C (n.954-32A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868548A>TCA2704724279TP63c.993-32A>T (n.993-32A>T)
c.711-32A>T (n.711-32A>T)
c.456-32A>T (n.456-32A>T)
n.817-32A>T
c.942-32A>T (n.942-32A>T)
c.990-32A>T (n.990-32A>T)
c.987-32A>T (n.987-32A>T)
c.954-32A>T (n.954-32A>T)
dbSNP
3g.189868549A=CA1428495571TP63c.993-31A= (n.993-31A=)
c.711-31A= (n.711-31A=)
c.456-31A= (n.456-31A=)
n.817-31A=
c.942-31A= (n.942-31A=)
c.990-31A= (n.990-31A=)
c.987-31A= (n.987-31A=)
c.954-31A= (n.954-31A=)
3g.189868549A>GCA548483586TP63c.993-31A>G (n.993-31A>G)
c.711-31A>G (n.711-31A>G)
c.456-31A>G (n.456-31A>G)
n.817-31A>G
c.942-31A>G (n.942-31A>G)
c.990-31A>G (n.990-31A>G)
c.987-31A>G (n.987-31A>G)
c.954-31A>G (n.954-31A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189868549A>TCA2669042476TP63c.993-31A>T (n.993-31A>T)
c.711-31A>T (n.711-31A>T)
c.456-31A>T (n.456-31A>T)
n.817-31A>T
c.942-31A>T (n.942-31A>T)
c.990-31A>T (n.990-31A>T)
c.987-31A>T (n.987-31A>T)
c.954-31A>T (n.954-31A>T)
dbSNP gnomAD v4
3g.189868549_189868551delinsACTCA1428495573TP63c.993-31_993-29delinsACT (n.993-31_993-29delinsACT)
c.711-31_711-29delinsACT (n.711-31_711-29delinsACT)
c.456-31_456-29delinsACT (n.456-31_456-29delinsACT)
n.817-31_817-29delinsACT
c.942-31_942-29delinsACT (n.942-31_942-29delinsACT)
c.990-31_990-29delinsACT (n.990-31_990-29delinsACT)
c.987-31_987-29delinsACT (n.987-31_987-29delinsACT)
c.954-31_954-29delinsACT (n.954-31_954-29delinsACT)
3g.189868550C=CA1428495583TP63c.993-30C= (n.993-30C=)
c.711-30C= (n.711-30C=)
c.456-30C= (n.456-30C=)
n.817-30C=
c.942-30C= (n.942-30C=)
c.990-30C= (n.990-30C=)
c.987-30C= (n.987-30C=)
c.954-30C= (n.954-30C=)
3g.189868550C>GCA2704725803TP63c.993-30C>G (n.993-30C>G)
c.711-30C>G (n.711-30C>G)
c.456-30C>G (n.456-30C>G)
n.817-30C>G
c.942-30C>G (n.942-30C>G)
c.990-30C>G (n.990-30C>G)
c.987-30C>G (n.987-30C>G)
c.954-30C>G (n.954-30C>G)
dbSNP
3g.189868550C>TCA2752316TP63c.993-30C>T (n.993-30C>T)
c.711-30C>T (n.711-30C>T)
c.456-30C>T (n.456-30C>T)
n.817-30C>T
c.942-30C>T (n.942-30C>T)
c.990-30C>T (n.990-30C>T)
c.987-30C>T (n.987-30C>T)
c.954-30C>T (n.954-30C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868552_189868553delCA548483587TP63c.993-28_993-27del (n.993-28_993-27del)
c.711-28_711-27del (n.711-28_711-27del)
c.456-28_456-27del (n.456-28_456-27del)
n.817-28_817-27del
c.942-28_942-27del (n.942-28_942-27del)
c.990-28_990-27del (n.990-28_990-27del)
c.987-28_987-27del (n.987-28_987-27del)
c.954-28_954-27del (n.954-28_954-27del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189868552C>ACA2669042477TP63c.993-28C>A (n.993-28C>A)
c.711-28C>A (n.711-28C>A)
c.456-28C>A (n.456-28C>A)
n.817-28C>A
c.942-28C>A (n.942-28C>A)
c.990-28C>A (n.990-28C>A)
c.987-28C>A (n.987-28C>A)
c.954-28C>A (n.954-28C>A)
gnomAD v4
3g.189868552C=CA1428495590TP63c.993-28C= (n.993-28C=)
c.711-28C= (n.711-28C=)
c.456-28C= (n.456-28C=)
n.817-28C=
c.942-28C= (n.942-28C=)
c.990-28C= (n.990-28C=)
c.987-28C= (n.987-28C=)
c.954-28C= (n.954-28C=)
3g.189868552C>TCA548483588TP63c.993-28C>T (n.993-28C>T)
c.711-28C>T (n.711-28C>T)
c.456-28C>T (n.456-28C>T)
n.817-28C>T
c.942-28C>T (n.942-28C>T)
c.990-28C>T (n.990-28C>T)
c.987-28C>T (n.987-28C>T)
c.954-28C>T (n.954-28C>T)
dbSNP gnomAD v2 gnomAD v4
3g.189868553T>CCA1428495592TP63c.993-27T>C (n.993-27T>C)
c.711-27T>C (n.711-27T>C)
c.456-27T>C (n.456-27T>C)
n.817-27T>C
c.942-27T>C (n.942-27T>C)
c.990-27T>C (n.990-27T>C)
c.987-27T>C (n.987-27T>C)
c.954-27T>C (n.954-27T>C)
dbSNP
3g.189868553T=CA1428495591TP63c.993-27T= (n.993-27T=)
c.711-27T= (n.711-27T=)
c.456-27T= (n.456-27T=)
n.817-27T=
c.942-27T= (n.942-27T=)
c.990-27T= (n.990-27T=)
c.987-27T= (n.987-27T=)
c.954-27T= (n.954-27T=)
3g.189868554T>CCA2704923955TP63c.993-26T>C (n.993-26T>C)
c.711-26T>C (n.711-26T>C)
c.456-26T>C (n.456-26T>C)
n.817-26T>C
c.942-26T>C (n.942-26T>C)
c.990-26T>C (n.990-26T>C)
c.987-26T>C (n.987-26T>C)
c.954-26T>C (n.954-26T>C)
dbSNP
3g.189868556C>TCA2669042478TP63c.993-24C>T (n.993-24C>T)
c.711-24C>T (n.711-24C>T)
c.456-24C>T (n.456-24C>T)
n.817-24C>T
c.942-24C>T (n.942-24C>T)
c.990-24C>T (n.990-24C>T)
c.987-24C>T (n.987-24C>T)
c.954-24C>T (n.954-24C>T)
dbSNP gnomAD v4
3g.189868557T>ACA904224313TP63c.993-23T>A (n.993-23T>A)
c.711-23T>A (n.711-23T>A)
c.456-23T>A (n.456-23T>A)
n.817-23T>A
c.942-23T>A (n.942-23T>A)
c.990-23T>A (n.990-23T>A)
c.987-23T>A (n.987-23T>A)
c.954-23T>A (n.954-23T>A)
dbSNP
3g.189868557T>CCA2704752185TP63c.993-23T>C (n.993-23T>C)
c.711-23T>C (n.711-23T>C)
c.456-23T>C (n.456-23T>C)
n.817-23T>C
c.942-23T>C (n.942-23T>C)
c.990-23T>C (n.990-23T>C)
c.987-23T>C (n.987-23T>C)
c.954-23T>C (n.954-23T>C)
dbSNP
3g.189868557T=CA1428495596TP63c.993-23T= (n.993-23T=)
c.711-23T= (n.711-23T=)
c.456-23T= (n.456-23T=)
n.817-23T=
c.942-23T= (n.942-23T=)
c.990-23T= (n.990-23T=)
c.987-23T= (n.987-23T=)
c.954-23T= (n.954-23T=)
3g.189868558T>CCA2752317TP63c.993-22T>C (n.993-22T>C)
c.711-22T>C (n.711-22T>C)
c.456-22T>C (n.456-22T>C)
n.817-22T>C
c.942-22T>C (n.942-22T>C)
c.990-22T>C (n.990-22T>C)
c.987-22T>C (n.987-22T>C)
c.954-22T>C (n.954-22T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868558T=CA1428495599TP63c.993-22T= (n.993-22T=)
c.711-22T= (n.711-22T=)
c.456-22T= (n.456-22T=)
n.817-22T=
c.942-22T= (n.942-22T=)
c.990-22T= (n.990-22T=)
c.987-22T= (n.987-22T=)
c.954-22T= (n.954-22T=)
3g.189868559C=CA1428495601TP63c.993-21C= (n.993-21C=)
c.711-21C= (n.711-21C=)
c.456-21C= (n.456-21C=)
n.817-21C=
c.942-21C= (n.942-21C=)
c.990-21C= (n.990-21C=)
c.987-21C= (n.987-21C=)
c.954-21C= (n.954-21C=)
3g.189868559C>GCA2752318TP63c.993-21C>G (n.993-21C>G)
c.711-21C>G (n.711-21C>G)
c.456-21C>G (n.456-21C>G)
n.817-21C>G
c.942-21C>G (n.942-21C>G)
c.990-21C>G (n.990-21C>G)
c.987-21C>G (n.987-21C>G)
c.954-21C>G (n.954-21C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868559C>TCA2704724280TP63c.993-21C>T (n.993-21C>T)
c.711-21C>T (n.711-21C>T)
c.456-21C>T (n.456-21C>T)
n.817-21C>T
c.942-21C>T (n.942-21C>T)
c.990-21C>T (n.990-21C>T)
c.987-21C>T (n.987-21C>T)
c.954-21C>T (n.954-21C>T)
dbSNP
3g.189868562delCA2704923999TP63c.993-18del (n.993-18del)
c.711-18del (n.711-18del)
c.456-18del (n.456-18del)
n.817-18del
c.942-18del (n.942-18del)
c.990-18del (n.990-18del)
c.987-18del (n.987-18del)
c.954-18del (n.954-18del)
dbSNP
3g.189868560C>TCA2704924000TP63c.993-20C>T (n.993-20C>T)
c.711-20C>T (n.711-20C>T)
c.456-20C>T (n.456-20C>T)
n.817-20C>T
c.942-20C>T (n.942-20C>T)
c.990-20C>T (n.990-20C>T)
c.987-20C>T (n.987-20C>T)
c.954-20C>T (n.954-20C>T)
dbSNP
3g.189868561C>ACA548483589TP63c.993-19C>A (n.993-19C>A)
c.711-19C>A (n.711-19C>A)
c.456-19C>A (n.456-19C>A)
n.817-19C>A
c.942-19C>A (n.942-19C>A)
c.990-19C>A (n.990-19C>A)
c.987-19C>A (n.987-19C>A)
c.954-19C>A (n.954-19C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189868561C=CA1428495605TP63c.993-19C= (n.993-19C=)
c.711-19C= (n.711-19C=)
c.456-19C= (n.456-19C=)
n.817-19C=
c.942-19C= (n.942-19C=)
c.990-19C= (n.990-19C=)
c.987-19C= (n.987-19C=)
c.954-19C= (n.954-19C=)
3g.189868561C>TCA904224324TP63c.993-19C>T (n.993-19C>T)
c.711-19C>T (n.711-19C>T)
c.456-19C>T (n.456-19C>T)
n.817-19C>T
c.942-19C>T (n.942-19C>T)
c.990-19C>T (n.990-19C>T)
c.987-19C>T (n.987-19C>T)
c.954-19C>T (n.954-19C>T)
dbSNP gnomAD v3 gnomAD v4
3g.189868562C>ACA2752319TP63c.993-18C>A (n.993-18C>A)
c.711-18C>A (n.711-18C>A)
c.456-18C>A (n.456-18C>A)
n.817-18C>A
c.942-18C>A (n.942-18C>A)
c.990-18C>A (n.990-18C>A)
c.987-18C>A (n.987-18C>A)
c.954-18C>A (n.954-18C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868562C=CA1428495609TP63c.993-18C= (n.993-18C=)
c.711-18C= (n.711-18C=)
c.456-18C= (n.456-18C=)
n.817-18C=
c.942-18C= (n.942-18C=)
c.990-18C= (n.990-18C=)
c.987-18C= (n.987-18C=)
c.954-18C= (n.954-18C=)
3g.189868562C>TCA548483590TP63c.993-18C>T (n.993-18C>T)
c.711-18C>T (n.711-18C>T)
c.456-18C>T (n.456-18C>T)
n.817-18C>T
c.942-18C>T (n.942-18C>T)
c.990-18C>T (n.990-18C>T)
c.987-18C>T (n.987-18C>T)
c.954-18C>T (n.954-18C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189868563T>ACA1428495613TP63c.993-17T>A (n.993-17T>A)
c.711-17T>A (n.711-17T>A)
c.456-17T>A (n.456-17T>A)
n.817-17T>A
c.942-17T>A (n.942-17T>A)
c.990-17T>A (n.990-17T>A)
c.987-17T>A (n.987-17T>A)
c.954-17T>A (n.954-17T>A)
dbSNP
3g.189868563T>CCA2704776402TP63c.993-17T>C (n.993-17T>C)
c.711-17T>C (n.711-17T>C)
c.456-17T>C (n.456-17T>C)
n.817-17T>C
c.942-17T>C (n.942-17T>C)
c.990-17T>C (n.990-17T>C)
c.987-17T>C (n.987-17T>C)
c.954-17T>C (n.954-17T>C)
dbSNP
3g.189868563T=CA1428495612TP63c.993-17T= (n.993-17T=)
c.711-17T= (n.711-17T=)
c.456-17T= (n.456-17T=)
n.817-17T=
c.942-17T= (n.942-17T=)
c.990-17T= (n.990-17T=)
c.987-17T= (n.987-17T=)
c.954-17T= (n.954-17T=)
3g.189868564T>CCA2752320TP63c.993-16T>C (n.993-16T>C)
c.711-16T>C (n.711-16T>C)
c.456-16T>C (n.456-16T>C)
n.817-16T>C
c.942-16T>C (n.942-16T>C)
c.990-16T>C (n.990-16T>C)
c.987-16T>C (n.987-16T>C)
c.954-16T>C (n.954-16T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868564T=CA1428495618TP63c.993-16T= (n.993-16T=)
c.711-16T= (n.711-16T=)
c.456-16T= (n.456-16T=)
n.817-16T=
c.942-16T= (n.942-16T=)
c.990-16T= (n.990-16T=)
c.987-16T= (n.987-16T=)
c.954-16T= (n.954-16T=)
3g.189868565T>CCA2752321TP63c.993-15T>C (n.993-15T>C)
c.711-15T>C (n.711-15T>C)
c.456-15T>C (n.456-15T>C)
n.817-15T>C
c.942-15T>C (n.942-15T>C)
c.990-15T>C (n.990-15T>C)
c.987-15T>C (n.987-15T>C)
c.954-15T>C (n.954-15T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868565T=CA1428495620TP63c.993-15T= (n.993-15T=)
c.711-15T= (n.711-15T=)
c.456-15T= (n.456-15T=)
n.817-15T=
c.942-15T= (n.942-15T=)
c.990-15T= (n.990-15T=)
c.987-15T= (n.987-15T=)
c.954-15T= (n.954-15T=)
3g.189868566A>TCA2704924002TP63c.993-14A>T (n.993-14A>T)
c.711-14A>T (n.711-14A>T)
c.456-14A>T (n.456-14A>T)
n.817-14A>T
c.942-14A>T (n.942-14A>T)
c.990-14A>T (n.990-14A>T)
c.987-14A>T (n.987-14A>T)
c.954-14A>T (n.954-14A>T)
dbSNP
3g.189868567T>CCA2704924008TP63c.993-13T>C (n.993-13T>C)
c.711-13T>C (n.711-13T>C)
c.456-13T>C (n.456-13T>C)
n.817-13T>C
c.942-13T>C (n.942-13T>C)
c.990-13T>C (n.990-13T>C)
c.987-13T>C (n.987-13T>C)
c.954-13T>C (n.954-13T>C)
dbSNP
3g.189868569C>ACA2704924186TP63c.993-11C>A (n.993-11C>A)
c.711-11C>A (n.711-11C>A)
c.456-11C>A (n.456-11C>A)
n.817-11C>A
c.942-11C>A (n.942-11C>A)
c.990-11C>A (n.990-11C>A)
c.987-11C>A (n.987-11C>A)
c.954-11C>A (n.954-11C>A)
dbSNP
3g.189868569C>GCA2704924011TP63c.993-11C>G (n.993-11C>G)
c.711-11C>G (n.711-11C>G)
c.456-11C>G (n.456-11C>G)
n.817-11C>G
c.942-11C>G (n.942-11C>G)
c.990-11C>G (n.990-11C>G)
c.987-11C>G (n.987-11C>G)
c.954-11C>G (n.954-11C>G)
dbSNP
3g.189868569C>TCA2704924075TP63c.993-11C>T (n.993-11C>T)
c.711-11C>T (n.711-11C>T)
c.456-11C>T (n.456-11C>T)
n.817-11C>T
c.942-11C>T (n.942-11C>T)
c.990-11C>T (n.990-11C>T)
c.987-11C>T (n.987-11C>T)
c.954-11C>T (n.954-11C>T)
dbSNP
3g.189868570T>CCA2669042479TP63c.993-10T>C (n.993-10T>C)
c.711-10T>C (n.711-10T>C)
c.456-10T>C (n.456-10T>C)
n.817-10T>C
c.942-10T>C (n.942-10T>C)
c.990-10T>C (n.990-10T>C)
c.987-10T>C (n.987-10T>C)
c.954-10T>C (n.954-10T>C)
gnomAD v4
3g.189868571A=CA1428495629TP63c.993-9A= (n.993-9A=)
c.711-9A= (n.711-9A=)
c.456-9A= (n.456-9A=)
n.817-9A=
c.942-9A= (n.942-9A=)
c.990-9A= (n.990-9A=)
c.987-9A= (n.987-9A=)
c.954-9A= (n.954-9A=)
3g.189868571A>CCA89746558TP63c.993-9A>C (n.993-9A>C)
c.711-9A>C (n.711-9A>C)
c.456-9A>C (n.456-9A>C)
n.817-9A>C
c.942-9A>C (n.942-9A>C)
c.990-9A>C (n.990-9A>C)
c.987-9A>C (n.987-9A>C)
c.954-9A>C (n.954-9A>C)
dbSNP
3g.189868571A>GCA2752322TP63c.993-9A>G (n.993-9A>G)
c.711-9A>G (n.711-9A>G)
c.456-9A>G (n.456-9A>G)
n.817-9A>G
c.942-9A>G (n.942-9A>G)
c.990-9A>G (n.990-9A>G)
c.987-9A>G (n.987-9A>G)
c.954-9A>G (n.954-9A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868572delCA2704924349TP63c.993-8del (n.993-8del)
c.711-8del (n.711-8del)
c.456-8del (n.456-8del)
n.817-8del
c.942-8del (n.942-8del)
c.990-8del (n.990-8del)
c.987-8del (n.987-8del)
c.954-8del (n.954-8del)
dbSNP
3g.189868572A>TCA2669042480TP63c.993-8A>T (n.993-8A>T)
c.711-8A>T (n.711-8A>T)
c.456-8A>T (n.456-8A>T)
n.817-8A>T
c.942-8A>T (n.942-8A>T)
c.990-8A>T (n.990-8A>T)
c.987-8A>T (n.987-8A>T)
c.954-8A>T (n.954-8A>T)
dbSNP gnomAD v4
3g.189868575C=CA1428495634TP63c.993-5C= (n.993-5C=)
c.711-5C= (n.711-5C=)
c.456-5C= (n.456-5C=)
n.817-5C=
c.942-5C= (n.942-5C=)
c.990-5C= (n.990-5C=)
c.987-5C= (n.987-5C=)
c.954-5C= (n.954-5C=)
3g.189868575C>GCA2669042481TP63c.993-5C>G (n.993-5C>G)
c.711-5C>G (n.711-5C>G)
c.456-5C>G (n.456-5C>G)
n.817-5C>G
c.942-5C>G (n.942-5C>G)
c.990-5C>G (n.990-5C>G)
c.987-5C>G (n.987-5C>G)
c.954-5C>G (n.954-5C>G)
gnomAD v4
3g.189868575C>TCA548483591TP63c.993-5C>T (n.993-5C>T)
c.711-5C>T (n.711-5C>T)
c.456-5C>T (n.456-5C>T)
n.817-5C>T
c.942-5C>T (n.942-5C>T)
c.990-5C>T (n.990-5C>T)
c.987-5C>T (n.987-5C>T)
c.954-5C>T (n.954-5C>T)
dbSNP gnomAD v2 gnomAD v4
3g.189868576C>ACA2704761417TP63c.993-4C>A (n.993-4C>A)
c.711-4C>A (n.711-4C>A)
c.456-4C>A (n.456-4C>A)
n.817-4C>A
c.942-4C>A (n.942-4C>A)
c.990-4C>A (n.990-4C>A)
c.987-4C>A (n.987-4C>A)
c.954-4C>A (n.954-4C>A)
dbSNP
3g.189868576C=CA1428495641TP63c.993-4C= (n.993-4C=)
c.711-4C= (n.711-4C=)
c.456-4C= (n.456-4C=)
n.817-4C=
c.942-4C= (n.942-4C=)
c.990-4C= (n.990-4C=)
c.987-4C= (n.987-4C=)
c.954-4C= (n.954-4C=)
3g.189868576C>TCA1428495643TP63c.993-4C>T (n.993-4C>T)
c.711-4C>T (n.711-4C>T)
c.456-4C>T (n.456-4C>T)
n.817-4C>T
c.942-4C>T (n.942-4C>T)
c.990-4C>T (n.990-4C>T)
c.987-4C>T (n.987-4C>T)
c.954-4C>T (n.954-4C>T)
dbSNP gnomAD v4
3g.189868578A>CCA355755086TP63c.993-2A>C (n.993-2A>C)
c.711-2A>C (n.711-2A>C)
c.456-2A>C (n.456-2A>C)
n.817-2A>C
c.942-2A>C (n.942-2A>C)
c.990-2A>C (n.990-2A>C)
c.987-2A>C (n.987-2A>C)
c.954-2A>C (n.954-2A>C)
3g.189868578A>GCA355755088TP63c.993-2A>G (n.993-2A>G)
c.711-2A>G (n.711-2A>G)
c.456-2A>G (n.456-2A>G)
n.817-2A>G
c.942-2A>G (n.942-2A>G)
c.990-2A>G (n.990-2A>G)
c.987-2A>G (n.987-2A>G)
c.954-2A>G (n.954-2A>G)
3g.189868578A>TCA355755087TP63c.993-2A>T (n.993-2A>T)
c.711-2A>T (n.711-2A>T)
c.456-2A>T (n.456-2A>T)
n.817-2A>T
c.942-2A>T (n.942-2A>T)
c.990-2A>T (n.990-2A>T)
c.987-2A>T (n.987-2A>T)
c.954-2A>T (n.954-2A>T)
dbSNP
3g.189868579G>ACA355755089TP63c.993-1G>A (n.993-1G>A)
c.711-1G>A (n.711-1G>A)
c.456-1G>A (n.456-1G>A)
n.817-1G>A
c.942-1G>A (n.942-1G>A)
c.990-1G>A (n.990-1G>A)
c.987-1G>A (n.987-1G>A)
c.954-1G>A (n.954-1G>A)
3g.189868579G>CCA355755090TP63c.993-1G>C (n.993-1G>C)
c.711-1G>C (n.711-1G>C)
c.456-1G>C (n.456-1G>C)
n.817-1G>C
c.942-1G>C (n.942-1G>C)
c.990-1G>C (n.990-1G>C)
c.987-1G>C (n.987-1G>C)
c.954-1G>C (n.954-1G>C)
dbSNP
3g.189868579G>TCA355755091TP63c.993-1G>T (n.993-1G>T)
c.711-1G>T (n.711-1G>T)
c.456-1G>T (n.456-1G>T)
n.817-1G>T
c.942-1G>T (n.942-1G>T)
c.990-1G>T (n.990-1G>T)
c.987-1G>T (n.987-1G>T)
c.954-1G>T (n.954-1G>T)
3g.189868580T>ACA355755092TP63c.993T>A (p.Asp331Glu)
c.711T>A (p.Asp237Glu)
c.456T>A (p.Asp152Glu)
n.817T>A
c.942T>A (p.Asp314Glu)
c.990T>A (p.Asp330Glu)
c.987T>A (p.Asp329Glu)
c.954T>A (p.Asp318Glu)
3g.189868580T>CCA437413301TP63c.993T>C (p.Asp331=)
c.711T>C (p.Asp237=)
c.456T>C (p.Asp152=)
n.817T>C
c.942T>C (p.Asp314=)
c.990T>C (p.Asp330=)
c.987T>C (p.Asp329=)
c.954T>C (p.Asp318=)
3g.189868580T>GCA355755093TP63c.993T>G (p.Asp331Glu)
c.711T>G (p.Asp237Glu)
c.456T>G (p.Asp152Glu)
n.817T>G
c.942T>G (p.Asp314Glu)
c.990T>G (p.Asp330Glu)
c.987T>G (p.Asp329Glu)
c.954T>G (p.Asp318Glu)
3g.189868581G>ACA89746580TP63c.994G>A (p.Gly332Arg)
c.712G>A (p.Gly238Arg)
c.457G>A (p.Gly153Arg)
n.818G>A
c.943G>A (p.Gly315Arg)
c.991G>A (p.Gly331Arg)
c.988G>A (p.Gly330Arg)
c.955G>A (p.Gly319Arg)
dbSNP
3g.189868581G>CCA355755094TP63c.994G>C (p.Gly332Arg)
c.712G>C (p.Gly238Arg)
c.457G>C (p.Gly153Arg)
n.818G>C
c.943G>C (p.Gly315Arg)
c.991G>C (p.Gly331Arg)
c.988G>C (p.Gly330Arg)
c.955G>C (p.Gly319Arg)
dbSNP
3g.189868581G=CA1428495646TP63c.994G= (p.Gly332=)
c.712G= (p.Gly238=)
c.457G= (p.Gly153=)
n.818G=
c.943G= (p.Gly315=)
c.991G= (p.Gly331=)
c.988G= (p.Gly330=)
c.955G= (p.Gly319=)
3g.189868581G>TCA355755095TP63c.994G>T (p.Gly332Trp)
c.712G>T (p.Gly238Trp)
c.457G>T (p.Gly153Trp)
n.818G>T
c.943G>T (p.Gly315Trp)
c.991G>T (p.Gly331Trp)
c.988G>T (p.Gly330Trp)
c.955G>T (p.Gly319Trp)
3g.189868582G>ACA355755096TP63c.995G>A (p.Gly332Glu)
c.713G>A (p.Gly238Glu)
c.458G>A (p.Gly153Glu)
n.819G>A
c.944G>A (p.Gly315Glu)
c.992G>A (p.Gly331Glu)
c.989G>A (p.Gly330Glu)
c.956G>A (p.Gly319Glu)
3g.189868582G>CCA355755097TP63c.995G>C (p.Gly332Ala)
c.713G>C (p.Gly238Ala)
c.458G>C (p.Gly153Ala)
n.819G>C
c.944G>C (p.Gly315Ala)
c.992G>C (p.Gly331Ala)
c.989G>C (p.Gly330Ala)
c.956G>C (p.Gly319Ala)
dbSNP
3g.189868582G>TCA355755098TP63c.995G>T (p.Gly332Val)
c.713G>T (p.Gly238Val)
c.458G>T (p.Gly153Val)
n.819G>T
c.944G>T (p.Gly315Val)
c.992G>T (p.Gly331Val)
c.989G>T (p.Gly330Val)
c.956G>T (p.Gly319Val)
dbSNP
3g.189868583G>ACA2752324TP63c.996G>A (p.Gly332=)
c.714G>A (p.Gly238=)
c.459G>A (p.Gly153=)
n.820G>A
c.945G>A (p.Gly315=)
c.993G>A (p.Gly331=)
c.990G>A (p.Gly330=)
c.957G>A (p.Gly319=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868583G>CCA2752323TP63c.996G>C (p.Gly332=)
c.714G>C (p.Gly238=)
c.459G>C (p.Gly153=)
n.820G>C
c.945G>C (p.Gly315=)
c.993G>C (p.Gly331=)
c.990G>C (p.Gly330=)
c.957G>C (p.Gly319=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868583G=CA1428495651TP63c.996G= (p.Gly332=)
c.714G= (p.Gly238=)
c.459G= (p.Gly153=)
n.820G=
c.945G= (p.Gly315=)
c.993G= (p.Gly331=)
c.990G= (p.Gly330=)
c.957G= (p.Gly319=)
3g.189868583G>TCA437413312TP63c.996G>T (p.Gly332=)
c.714G>T (p.Gly238=)
c.459G>T (p.Gly153=)
n.820G>T
c.945G>T (p.Gly315=)
c.993G>T (p.Gly331=)
c.990G>T (p.Gly330=)
c.957G>T (p.Gly319=)
dbSNP gnomAD v4
3g.189868584C>ACA355755099TP63c.997C>A (p.Gln333Lys)
c.715C>A (p.Gln239Lys)
c.460C>A (p.Gln154Lys)
n.821C>A
c.946C>A (p.Gln316Lys)
c.994C>A (p.Gln332Lys)
c.991C>A (p.Gln331Lys)
c.958C>A (p.Gln320Lys)
dbSNP gnomAD v4
3g.189868584C>GCA355755101TP63c.997C>G (p.Gln333Glu)
c.715C>G (p.Gln239Glu)
c.460C>G (p.Gln154Glu)
n.821C>G
c.946C>G (p.Gln316Glu)
c.994C>G (p.Gln332Glu)
c.991C>G (p.Gln331Glu)
c.958C>G (p.Gln320Glu)
dbSNP gnomAD v4
3g.189868584C>TCA355755100TP63c.997C>T (p.Gln333Ter)
c.715C>T (p.Gln239Ter)
c.460C>T (p.Gln154Ter)
n.821C>T
c.946C>T (p.Gln316Ter)
c.994C>T (p.Gln332Ter)
c.991C>T (p.Gln331Ter)
c.958C>T (p.Gln320Ter)
dbSNP
3g.189868585A>CCA355755102TP63c.998A>C (p.Gln333Pro)
c.716A>C (p.Gln239Pro)
c.461A>C (p.Gln154Pro)
n.822A>C
c.947A>C (p.Gln316Pro)
c.995A>C (p.Gln332Pro)
c.992A>C (p.Gln331Pro)
c.959A>C (p.Gln320Pro)
3g.189868585A>GCA355755103TP63c.998A>G (p.Gln333Arg)
c.716A>G (p.Gln239Arg)
c.461A>G (p.Gln154Arg)
n.822A>G
c.947A>G (p.Gln316Arg)
c.995A>G (p.Gln332Arg)
c.992A>G (p.Gln331Arg)
c.959A>G (p.Gln320Arg)
3g.189868585A>TCA355755104TP63c.998A>T (p.Gln333Leu)
c.716A>T (p.Gln239Leu)
c.461A>T (p.Gln154Leu)
n.822A>T
c.947A>T (p.Gln316Leu)
c.995A>T (p.Gln332Leu)
c.992A>T (p.Gln331Leu)
c.959A>T (p.Gln320Leu)
3g.189868586A>CCA355755105TP63c.999A>C (p.Gln333His)
c.717A>C (p.Gln239His)
c.462A>C (p.Gln154His)
n.823A>C
c.948A>C (p.Gln316His)
c.996A>C (p.Gln332His)
c.993A>C (p.Gln331His)
c.960A>C (p.Gln320His)
3g.189868586A>GCA437413322TP63c.999A>G (p.Gln333=)
c.717A>G (p.Gln239=)
c.462A>G (p.Gln154=)
n.823A>G
c.948A>G (p.Gln316=)
c.996A>G (p.Gln332=)
c.993A>G (p.Gln331=)
c.960A>G (p.Gln320=)
3g.189868586A>TCA355755106TP63c.999A>T (p.Gln333His)
c.717A>T (p.Gln239His)
c.462A>T (p.Gln154His)
n.823A>T
c.948A>T (p.Gln316His)
c.996A>T (p.Gln332His)
c.993A>T (p.Gln331His)
c.960A>T (p.Gln320His)
3g.189868587G>ACA355755107TP63c.1000G>A (p.Val334Ile)
c.718G>A (p.Val240Ile)
c.463G>A (p.Val155Ile)
n.824G>A
c.949G>A (p.Val317Ile)
c.997G>A (p.Val333Ile)
c.994G>A (p.Val332Ile)
c.961G>A (p.Val321Ile)
3g.189868587G>CCA355755108TP63c.1000G>C (p.Val334Leu)
c.718G>C (p.Val240Leu)
c.463G>C (p.Val155Leu)
n.824G>C
c.949G>C (p.Val317Leu)
c.997G>C (p.Val333Leu)
c.994G>C (p.Val332Leu)
c.961G>C (p.Val321Leu)
3g.189868587G>TCA355755109TP63c.1000G>T (p.Val334Phe)
c.718G>T (p.Val240Phe)
c.463G>T (p.Val155Phe)
n.824G>T
c.949G>T (p.Val317Phe)
c.997G>T (p.Val333Phe)
c.994G>T (p.Val332Phe)
c.961G>T (p.Val321Phe)
3g.189868588T>ACA355755110TP63c.1001T>A (p.Val334Asp)
c.719T>A (p.Val240Asp)
c.464T>A (p.Val155Asp)
n.825T>A
c.950T>A (p.Val317Asp)
c.998T>A (p.Val333Asp)
c.995T>A (p.Val332Asp)
c.962T>A (p.Val321Asp)
dbSNP
3g.189868588T>CCA355755111TP63c.1001T>C (p.Val334Ala)
c.719T>C (p.Val240Ala)
c.464T>C (p.Val155Ala)
n.825T>C
c.950T>C (p.Val317Ala)
c.998T>C (p.Val333Ala)
c.995T>C (p.Val332Ala)
c.962T>C (p.Val321Ala)
3g.189868588T>GCA355755112TP63c.1001T>G (p.Val334Gly)
c.719T>G (p.Val240Gly)
c.464T>G (p.Val155Gly)
n.825T>G
c.950T>G (p.Val317Gly)
c.998T>G (p.Val333Gly)
c.995T>G (p.Val332Gly)
c.962T>G (p.Val321Gly)
3g.189868589C>ACA2752325TP63c.1002C>A (p.Val334=)
c.720C>A (p.Val240=)
c.465C>A (p.Val155=)
n.826C>A
c.951C>A (p.Val317=)
c.999C>A (p.Val333=)
c.996C>A (p.Val332=)
c.963C>A (p.Val321=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868589C=CA1428495657TP63c.1002C= (p.Val334=)
c.720C= (p.Val240=)
c.465C= (p.Val155=)
n.826C=
c.951C= (p.Val317=)
c.999C= (p.Val333=)
c.996C= (p.Val332=)
c.963C= (p.Val321=)
3g.189868589C>GCA437413333TP63c.1002C>G (p.Val334=)
c.720C>G (p.Val240=)
c.465C>G (p.Val155=)
n.826C>G
c.951C>G (p.Val317=)
c.999C>G (p.Val333=)
c.996C>G (p.Val332=)
c.963C>G (p.Val321=)
dbSNP
3g.189868589C>TCA437413335TP63c.1002C>T (p.Val334=)
c.720C>T (p.Val240=)
c.465C>T (p.Val155=)
n.826C>T
c.951C>T (p.Val317=)
c.999C>T (p.Val333=)
c.996C>T (p.Val332=)
c.963C>T (p.Val321=)
dbSNP COSMIC COSMIC COSMIC
3g.189868590C>ACA355755114TP63c.1003C>A (p.Leu335Met)
c.721C>A (p.Leu241Met)
c.466C>A (p.Leu156Met)
n.827C>A
c.952C>A (p.Leu318Met)
c.1000C>A (p.Leu334Met)
c.997C>A (p.Leu333Met)
c.964C>A (p.Leu322Met)
3g.189868590C=CA1428495661TP63c.1003C= (p.Leu335=)
c.721C= (p.Leu241=)
c.466C= (p.Leu156=)
n.827C=
c.952C= (p.Leu318=)
c.1000C= (p.Leu334=)
c.997C= (p.Leu333=)
c.964C= (p.Leu322=)
3g.189868590C>GCA355755113TP63c.1003C>G (p.Leu335Val)
c.721C>G (p.Leu241Val)
c.466C>G (p.Leu156Val)
n.827C>G
c.952C>G (p.Leu318Val)
c.1000C>G (p.Leu334Val)
c.997C>G (p.Leu333Val)
c.964C>G (p.Leu322Val)
3g.189868590C>TCA437413339TP63c.1003C>T (p.Leu335=)
c.721C>T (p.Leu241=)
c.466C>T (p.Leu156=)
n.827C>T
c.952C>T (p.Leu318=)
c.1000C>T (p.Leu334=)
c.997C>T (p.Leu333=)
c.964C>T (p.Leu322=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868591T>ACA355755115TP63c.1004T>A (p.Leu335Gln)
c.722T>A (p.Leu241Gln)
c.467T>A (p.Leu156Gln)
n.828T>A
c.953T>A (p.Leu318Gln)
c.1001T>A (p.Leu334Gln)
c.998T>A (p.Leu333Gln)
c.965T>A (p.Leu322Gln)
3g.189868591T>CCA355755116TP63c.1004T>C (p.Leu335Pro)
c.722T>C (p.Leu241Pro)
c.467T>C (p.Leu156Pro)
n.828T>C
c.953T>C (p.Leu318Pro)
c.1001T>C (p.Leu334Pro)
c.998T>C (p.Leu333Pro)
c.965T>C (p.Leu322Pro)
3g.189868591T>GCA355755117TP63c.1004T>G (p.Leu335Arg)
c.722T>G (p.Leu241Arg)
c.467T>G (p.Leu156Arg)
n.828T>G
c.953T>G (p.Leu318Arg)
c.1001T>G (p.Leu334Arg)
c.998T>G (p.Leu333Arg)
c.965T>G (p.Leu322Arg)
3g.189868592G>ACA89746598TP63c.1005G>A (p.Leu335=)
c.723G>A (p.Leu241=)
c.468G>A (p.Leu156=)
n.829G>A
c.954G>A (p.Leu318=)
c.1002G>A (p.Leu334=)
c.999G>A (p.Leu333=)
c.966G>A (p.Leu322=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189868592G>CCA437413346TP63c.1005G>C (p.Leu335=)
c.723G>C (p.Leu241=)
c.468G>C (p.Leu156=)
n.829G>C
c.954G>C (p.Leu318=)
c.1002G>C (p.Leu334=)
c.999G>C (p.Leu333=)
c.966G>C (p.Leu322=)
3g.189868592G=CA1428495666TP63c.1005G= (p.Leu335=)
c.723G= (p.Leu241=)
c.468G= (p.Leu156=)
n.829G=
c.954G= (p.Leu318=)
c.1002G= (p.Leu334=)
c.999G= (p.Leu333=)
c.966G= (p.Leu322=)
3g.189868592G>TCA437413349TP63c.1005G>T (p.Leu335=)
c.723G>T (p.Leu241=)
c.468G>T (p.Leu156=)
n.829G>T
c.954G>T (p.Leu318=)
c.1002G>T (p.Leu334=)
c.999G>T (p.Leu333=)
c.966G>T (p.Leu322=)
3g.189868593G>ACA89746609TP63c.1006G>A (p.Gly336Ser)
c.724G>A (p.Gly242Ser)
c.469G>A (p.Gly157Ser)
n.830G>A
c.955G>A (p.Gly319Ser)
c.1003G>A (p.Gly335Ser)
c.1000G>A (p.Gly334Ser)
c.967G>A (p.Gly323Ser)
dbSNP
3g.189868593G>CCA355755118TP63c.1006G>C (p.Gly336Arg)
c.724G>C (p.Gly242Arg)
c.469G>C (p.Gly157Arg)
n.830G>C
c.955G>C (p.Gly319Arg)
c.1003G>C (p.Gly335Arg)
c.1000G>C (p.Gly334Arg)
c.967G>C (p.Gly323Arg)
3g.189868593G=CA1428495669TP63c.1006G= (p.Gly336=)
c.724G= (p.Gly242=)
c.469G= (p.Gly157=)
n.830G=
c.955G= (p.Gly319=)
c.1003G= (p.Gly335=)
c.1000G= (p.Gly334=)
c.967G= (p.Gly323=)
3g.189868593G>TCA355755119TP63c.1006G>T (p.Gly336Cys)
c.724G>T (p.Gly242Cys)
c.469G>T (p.Gly157Cys)
n.830G>T
c.955G>T (p.Gly319Cys)
c.1003G>T (p.Gly335Cys)
c.1000G>T (p.Gly334Cys)
c.967G>T (p.Gly323Cys)
3g.189868594G>ACA355755120TP63c.1007G>A (p.Gly336Asp)
c.725G>A (p.Gly242Asp)
c.470G>A (p.Gly157Asp)
n.831G>A
c.956G>A (p.Gly319Asp)
c.1004G>A (p.Gly335Asp)
c.1001G>A (p.Gly334Asp)
c.968G>A (p.Gly323Asp)
ClinVar dbSNP
3g.189868594G>CCA355755121TP63c.1007G>C (p.Gly336Ala)
c.725G>C (p.Gly242Ala)
c.470G>C (p.Gly157Ala)
n.831G>C
c.956G>C (p.Gly319Ala)
c.1004G>C (p.Gly335Ala)
c.1001G>C (p.Gly334Ala)
c.968G>C (p.Gly323Ala)
dbSNP
3g.189868594G>TCA355755122TP63c.1007G>T (p.Gly336Val)
c.725G>T (p.Gly242Val)
c.470G>T (p.Gly157Val)
n.831G>T
c.956G>T (p.Gly319Val)
c.1004G>T (p.Gly335Val)
c.1001G>T (p.Gly334Val)
c.968G>T (p.Gly323Val)
3g.189868595C>ACA437413358TP63c.1008C>A (p.Gly336=)
c.726C>A (p.Gly242=)
c.471C>A (p.Gly157=)
n.832C>A
c.957C>A (p.Gly319=)
c.1005C>A (p.Gly335=)
c.1002C>A (p.Gly334=)
c.969C>A (p.Gly323=)
dbSNP
3g.189868595C>GCA437413360TP63c.1008C>G (p.Gly336=)
c.726C>G (p.Gly242=)
c.471C>G (p.Gly157=)
n.832C>G
c.957C>G (p.Gly319=)
c.1005C>G (p.Gly335=)
c.1002C>G (p.Gly334=)
c.969C>G (p.Gly323=)
dbSNP
3g.189868595C>TCA437413362TP63c.1008C>T (p.Gly336=)
c.726C>T (p.Gly242=)
c.471C>T (p.Gly157=)
n.832C>T
c.957C>T (p.Gly319=)
c.1005C>T (p.Gly335=)
c.1002C>T (p.Gly334=)
c.969C>T (p.Gly323=)
dbSNP gnomAD v4
3g.189868596C>ACA437413365TP63c.1009C>A (p.Arg337=)
c.727C>A (p.Arg243=)
c.472C>A (p.Arg158=)
n.833C>A
c.958C>A (p.Arg320=)
c.1006C>A (p.Arg336=)
c.1003C>A (p.Arg335=)
c.970C>A (p.Arg324=)
dbSNP
3g.189868596C=CA1428495674TP63c.1009C= (p.Arg337=)
c.727C= (p.Arg243=)
c.472C= (p.Arg158=)
n.833C=
c.958C= (p.Arg320=)
c.1006C= (p.Arg336=)
c.1003C= (p.Arg335=)
c.970C= (p.Arg324=)
3g.189868596C>GCA340600TP63c.1009C>G (p.Arg337Gly)
c.727C>G (p.Arg243Gly)
c.472C>G (p.Arg158Gly)
n.833C>G
c.958C>G (p.Arg320Gly)
c.1006C>G (p.Arg336Gly)
c.1003C>G (p.Arg335Gly)
c.970C>G (p.Arg324Gly)
ClinVar dbSNP
3g.189868596C>TCA355755123TP63c.1009C>T (p.Arg337Ter)
c.727C>T (p.Arg243Ter)
c.472C>T (p.Arg158Ter)
n.833C>T
c.958C>T (p.Arg320Ter)
c.1006C>T (p.Arg336Ter)
c.1003C>T (p.Arg335Ter)
c.970C>T (p.Arg324Ter)
ClinVar dbSNP COSMIC COSMIC COSMIC
3g.189868597G>ACA340599TP63c.1010G>A (p.Arg337Gln)
c.728G>A (p.Arg243Gln)
c.473G>A (p.Arg158Gln)
n.834G>A
c.959G>A (p.Arg320Gln)
c.1007G>A (p.Arg336Gln)
c.1004G>A (p.Arg335Gln)
c.971G>A (p.Arg324Gln)
ClinVar dbSNP COSMIC
3g.189868597G>CCA355755125TP63c.1010G>C (p.Arg337Pro)
c.728G>C (p.Arg243Pro)
c.473G>C (p.Arg158Pro)
n.834G>C
c.959G>C (p.Arg320Pro)
c.1007G>C (p.Arg336Pro)
c.1004G>C (p.Arg335Pro)
c.971G>C (p.Arg324Pro)
dbSNP
3g.189868597G=CA1428495687TP63c.1010G= (p.Arg337=)
c.728G= (p.Arg243=)
c.473G= (p.Arg158=)
n.834G=
c.959G= (p.Arg320=)
c.1007G= (p.Arg336=)
c.1004G= (p.Arg335=)
c.971G= (p.Arg324=)
3g.189868597G>TCA355755124TP63c.1010G>T (p.Arg337Leu)
c.728G>T (p.Arg243Leu)
c.473G>T (p.Arg158Leu)
n.834G>T
c.959G>T (p.Arg320Leu)
c.1007G>T (p.Arg336Leu)
c.1004G>T (p.Arg335Leu)
c.971G>T (p.Arg324Leu)
COSMIC COSMIC
3g.189868598A=CA1428495698TP63c.1011A= (p.Arg337=)
c.729A= (p.Arg243=)
c.474A= (p.Arg158=)
n.835A=
c.960A= (p.Arg320=)
c.1008A= (p.Arg336=)
c.1005A= (p.Arg335=)
c.972A= (p.Arg324=)
3g.189868598A>CCA437413374TP63c.1011A>C (p.Arg337=)
c.729A>C (p.Arg243=)
c.474A>C (p.Arg158=)
n.835A>C
c.960A>C (p.Arg320=)
c.1008A>C (p.Arg336=)
c.1005A>C (p.Arg335=)
c.972A>C (p.Arg324=)
3g.189868598A>GCA2752326TP63c.1011A>G (p.Arg337=)
c.729A>G (p.Arg243=)
c.474A>G (p.Arg158=)
n.835A>G
c.960A>G (p.Arg320=)
c.1008A>G (p.Arg336=)
c.1005A>G (p.Arg335=)
c.972A>G (p.Arg324=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868598A>TCA437413377TP63c.1011A>T (p.Arg337=)
c.729A>T (p.Arg243=)
c.474A>T (p.Arg158=)
n.835A>T
c.960A>T (p.Arg320=)
c.1008A>T (p.Arg336=)
c.1005A>T (p.Arg335=)
c.972A>T (p.Arg324=)
dbSNP
3g.189868599C>ACA355755126TP63c.1012C>A (p.Arg338Ser)
c.730C>A (p.Arg244Ser)
c.475C>A (p.Arg159Ser)
n.836C>A
c.961C>A (p.Arg321Ser)
c.1009C>A (p.Arg337Ser)
c.1006C>A (p.Arg336Ser)
c.973C>A (p.Arg325Ser)
3g.189868599C=CA1428495705TP63c.1012C= (p.Arg338=)
c.730C= (p.Arg244=)
c.475C= (p.Arg159=)
n.836C=
c.961C= (p.Arg321=)
c.1009C= (p.Arg337=)
c.1006C= (p.Arg336=)
c.973C= (p.Arg325=)
3g.189868599C>GCA355755127TP63c.1012C>G (p.Arg338Gly)
c.730C>G (p.Arg244Gly)
c.475C>G (p.Arg159Gly)
n.836C>G
c.961C>G (p.Arg321Gly)
c.1009C>G (p.Arg337Gly)
c.1006C>G (p.Arg336Gly)
c.973C>G (p.Arg325Gly)
dbSNP
3g.189868599C>TCA355755128TP63c.1012C>T (p.Arg338Cys)
c.730C>T (p.Arg244Cys)
c.475C>T (p.Arg159Cys)
n.836C>T
c.961C>T (p.Arg321Cys)
c.1009C>T (p.Arg337Cys)
c.1006C>T (p.Arg336Cys)
c.973C>T (p.Arg325Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.189868600G>ACA89746661TP63c.1013G>A (p.Arg338His)
c.731G>A (p.Arg244His)
c.476G>A (p.Arg159His)
n.837G>A
c.962G>A (p.Arg321His)
c.1010G>A (p.Arg337His)
c.1007G>A (p.Arg336His)
c.974G>A (p.Arg325His)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.189868600G>CCA355755129TP63c.1013G>C (p.Arg338Pro)
c.731G>C (p.Arg244Pro)
c.476G>C (p.Arg159Pro)
n.837G>C
c.962G>C (p.Arg321Pro)
c.1010G>C (p.Arg337Pro)
c.1007G>C (p.Arg336Pro)
c.974G>C (p.Arg325Pro)
dbSNP
3g.189868600G=CA1428495715TP63c.1013G= (p.Arg338=)
c.731G= (p.Arg244=)
c.476G= (p.Arg159=)
n.837G=
c.962G= (p.Arg321=)
c.1010G= (p.Arg337=)
c.1007G= (p.Arg336=)
c.974G= (p.Arg325=)
3g.189868600G>TCA355755130TP63c.1013G>T (p.Arg338Leu)
c.731G>T (p.Arg244Leu)
c.476G>T (p.Arg159Leu)
n.837G>T
c.962G>T (p.Arg321Leu)
c.1010G>T (p.Arg337Leu)
c.1007G>T (p.Arg336Leu)
c.974G>T (p.Arg325Leu)
3g.189868601C>ACA437413386TP63c.1014C>A (p.Arg338=)
c.732C>A (p.Arg244=)
c.477C>A (p.Arg159=)
n.838C>A
c.963C>A (p.Arg321=)
c.1011C>A (p.Arg337=)
c.1008C>A (p.Arg336=)
c.975C>A (p.Arg325=)
3g.189868601C=CA1428495724TP63c.1014C= (p.Arg338=)
c.732C= (p.Arg244=)
c.477C= (p.Arg159=)
n.838C=
c.963C= (p.Arg321=)
c.1011C= (p.Arg337=)
c.1008C= (p.Arg336=)
c.975C= (p.Arg325=)
3g.189868601C>GCA437413388TP63c.1014C>G (p.Arg338=)
c.732C>G (p.Arg244=)
c.477C>G (p.Arg159=)
n.838C>G
c.963C>G (p.Arg321=)
c.1011C>G (p.Arg337=)
c.1008C>G (p.Arg336=)
c.975C>G (p.Arg325=)
dbSNP
3g.189868601C>TCA437413391TP63c.1014C>T (p.Arg338=)
c.732C>T (p.Arg244=)
c.477C>T (p.Arg159=)
n.838C>T
c.963C>T (p.Arg321=)
c.1011C>T (p.Arg337=)
c.1008C>T (p.Arg336=)
c.975C>T (p.Arg325=)
dbSNP
3g.189868602T>ACA355755131TP63c.1015T>A (p.Cys339Ser)
c.733T>A (p.Cys245Ser)
c.478T>A (p.Cys160Ser)
n.839T>A
c.964T>A (p.Cys322Ser)
c.1012T>A (p.Cys338Ser)
c.1009T>A (p.Cys337Ser)
c.976T>A (p.Cys326Ser)
gnomAD v4
3g.189868602T>CCA355755132TP63c.1015T>C (p.Cys339Arg)
c.733T>C (p.Cys245Arg)
c.478T>C (p.Cys160Arg)
n.839T>C
c.964T>C (p.Cys322Arg)
c.1012T>C (p.Cys338Arg)
c.1009T>C (p.Cys337Arg)
c.976T>C (p.Cys326Arg)
COSMIC COSMIC COSMIC
3g.189868602T>GCA355755133TP63c.1015T>G (p.Cys339Gly)
c.733T>G (p.Cys245Gly)
c.478T>G (p.Cys160Gly)
n.839T>G
c.964T>G (p.Cys322Gly)
c.1012T>G (p.Cys338Gly)
c.1009T>G (p.Cys337Gly)
c.976T>G (p.Cys326Gly)
3g.189868603G>ACA355755134TP63c.1016G>A (p.Cys339Tyr)
c.734G>A (p.Cys245Tyr)
c.479G>A (p.Cys160Tyr)
n.840G>A
c.965G>A (p.Cys322Tyr)
c.1013G>A (p.Cys338Tyr)
c.1010G>A (p.Cys337Tyr)
c.977G>A (p.Cys326Tyr)
dbSNP
3g.189868603G>CCA355755135TP63c.1016G>C (p.Cys339Ser)
c.734G>C (p.Cys245Ser)
c.479G>C (p.Cys160Ser)
n.840G>C
c.965G>C (p.Cys322Ser)
c.1013G>C (p.Cys338Ser)
c.1010G>C (p.Cys337Ser)
c.977G>C (p.Cys326Ser)
3g.189868603G=CA1428495726TP63c.1016G= (p.Cys339=)
c.734G= (p.Cys245=)
c.479G= (p.Cys160=)
n.840G=
c.965G= (p.Cys322=)
c.1013G= (p.Cys338=)
c.1010G= (p.Cys337=)
c.977G= (p.Cys326=)
3g.189868603G>TCA355755136TP63c.1016G>T (p.Cys339Phe)
c.734G>T (p.Cys245Phe)
c.479G>T (p.Cys160Phe)
n.840G>T
c.965G>T (p.Cys322Phe)
c.1013G>T (p.Cys338Phe)
c.1010G>T (p.Cys337Phe)
c.977G>T (p.Cys326Phe)
COSMIC
3g.189868604C>ACA355755137TP63c.1017C>A (p.Cys339Ter)
c.735C>A (p.Cys245Ter)
c.480C>A (p.Cys160Ter)
n.841C>A
c.966C>A (p.Cys322Ter)
c.1014C>A (p.Cys338Ter)
c.1011C>A (p.Cys337Ter)
c.978C>A (p.Cys326Ter)
3g.189868604C=CA1428495731TP63c.1017C= (p.Cys339=)
c.735C= (p.Cys245=)
c.480C= (p.Cys160=)
n.841C=
c.966C= (p.Cys322=)
c.1014C= (p.Cys338=)
c.1011C= (p.Cys337=)
c.978C= (p.Cys326=)
3g.189868604C>GCA355755138TP63c.1017C>G (p.Cys339Trp)
c.735C>G (p.Cys245Trp)
c.480C>G (p.Cys160Trp)
n.841C>G
c.966C>G (p.Cys322Trp)
c.1014C>G (p.Cys338Trp)
c.1011C>G (p.Cys337Trp)
c.978C>G (p.Cys326Trp)
3g.189868604C>TCA437413398TP63c.1017C>T (p.Cys339=)
c.735C>T (p.Cys245=)
c.480C>T (p.Cys160=)
n.841C>T
c.966C>T (p.Cys322=)
c.1014C>T (p.Cys338=)
c.1011C>T (p.Cys337=)
c.978C>T (p.Cys326=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189868605T>ACA355755139TP63c.1018T>A (p.Phe340Ile)
c.736T>A (p.Phe246Ile)
c.481T>A (p.Phe161Ile)
n.842T>A
c.967T>A (p.Phe323Ile)
c.1015T>A (p.Phe339Ile)
c.1012T>A (p.Phe338Ile)
c.979T>A (p.Phe327Ile)
3g.189868605T>CCA2752327TP63c.1018T>C (p.Phe340Leu)
c.736T>C (p.Phe246Leu)
c.481T>C (p.Phe161Leu)
n.842T>C
c.967T>C (p.Phe323Leu)
c.1015T>C (p.Phe339Leu)
c.1012T>C (p.Phe338Leu)
c.979T>C (p.Phe327Leu)
dbSNP ExAC gnomAD v2
3g.189868605T>GCA355755140TP63c.1018T>G (p.Phe340Val)
c.736T>G (p.Phe246Val)
c.481T>G (p.Phe161Val)
n.842T>G
c.967T>G (p.Phe323Val)
c.1015T>G (p.Phe339Val)
c.1012T>G (p.Phe338Val)
c.979T>G (p.Phe327Val)
3g.189868605T=CA1428495734TP63c.1018T= (p.Phe340=)
c.736T= (p.Phe246=)
c.481T= (p.Phe161=)
n.842T=
c.967T= (p.Phe323=)
c.1015T= (p.Phe339=)
c.1012T= (p.Phe338=)
c.979T= (p.Phe327=)
3g.189868606T>ACA355755141TP63c.1019T>A (p.Phe340Tyr)
c.737T>A (p.Phe246Tyr)
c.482T>A (p.Phe161Tyr)
n.843T>A
c.968T>A (p.Phe323Tyr)
c.1016T>A (p.Phe339Tyr)
c.1013T>A (p.Phe338Tyr)
c.980T>A (p.Phe327Tyr)
3g.189868606T>CCA355755142TP63c.1019T>C (p.Phe340Ser)
c.737T>C (p.Phe246Ser)
c.482T>C (p.Phe161Ser)
n.843T>C
c.968T>C (p.Phe323Ser)
c.1016T>C (p.Phe339Ser)
c.1013T>C (p.Phe338Ser)
c.980T>C (p.Phe327Ser)
3g.189868606T>GCA355755143TP63c.1019T>G (p.Phe340Cys)
c.737T>G (p.Phe246Cys)
c.482T>G (p.Phe161Cys)
n.843T>G
c.968T>G (p.Phe323Cys)
c.1016T>G (p.Phe339Cys)
c.1013T>G (p.Phe338Cys)
c.980T>G (p.Phe327Cys)
3g.189868607T>ACA355755144TP63c.1020T>A (p.Phe340Leu)
c.738T>A (p.Phe246Leu)
c.483T>A (p.Phe161Leu)
n.844T>A
c.969T>A (p.Phe323Leu)
c.1017T>A (p.Phe339Leu)
c.1014T>A (p.Phe338Leu)
c.981T>A (p.Phe327Leu)
3g.189868607T>CCA437413410TP63c.1020T>C (p.Phe340=)
c.738T>C (p.Phe246=)
c.483T>C (p.Phe161=)
n.844T>C
c.969T>C (p.Phe323=)
c.1017T>C (p.Phe339=)
c.1014T>C (p.Phe338=)
c.981T>C (p.Phe327=)
3g.189868607T>GCA355755145TP63c.1020T>G (p.Phe340Leu)
c.738T>G (p.Phe246Leu)
c.483T>G (p.Phe161Leu)
n.844T>G
c.969T>G (p.Phe323Leu)
c.1017T>G (p.Phe339Leu)
c.1014T>G (p.Phe338Leu)
c.981T>G (p.Phe327Leu)
3g.189868608G>ACA355755146TP63c.1021G>A (p.Glu341Lys)
c.739G>A (p.Glu247Lys)
c.484G>A (p.Glu162Lys)
n.845G>A
c.970G>A (p.Glu324Lys)
c.1018G>A (p.Glu340Lys)
c.1015G>A (p.Glu339Lys)
c.982G>A (p.Glu328Lys)
3g.189868608G>CCA355755147TP63c.1021G>C (p.Glu341Gln)
c.739G>C (p.Glu247Gln)
c.484G>C (p.Glu162Gln)
n.845G>C
c.970G>C (p.Glu324Gln)
c.1018G>C (p.Glu340Gln)
c.1015G>C (p.Glu339Gln)
c.982G>C (p.Glu328Gln)
dbSNP
3g.189868608G>TCA355755148TP63c.1021G>T (p.Glu341Ter)
c.739G>T (p.Glu247Ter)
c.484G>T (p.Glu162Ter)
n.845G>T
c.970G>T (p.Glu324Ter)
c.1018G>T (p.Glu340Ter)
c.1015G>T (p.Glu339Ter)
c.982G>T (p.Glu328Ter)
3g.189868609A>CCA355755149TP63c.1022A>C (p.Glu341Ala)
c.740A>C (p.Glu247Ala)
c.485A>C (p.Glu162Ala)
n.846A>C
c.971A>C (p.Glu324Ala)
c.1019A>C (p.Glu340Ala)
c.1016A>C (p.Glu339Ala)
c.983A>C (p.Glu328Ala)
3g.189868609A>GCA355755150TP63c.1022A>G (p.Glu341Gly)
c.740A>G (p.Glu247Gly)
c.485A>G (p.Glu162Gly)
n.846A>G
c.971A>G (p.Glu324Gly)
c.1019A>G (p.Glu340Gly)
c.1016A>G (p.Glu339Gly)
c.983A>G (p.Glu328Gly)
3g.189868609A>TCA355755151TP63c.1022A>T (p.Glu341Val)
c.740A>T (p.Glu247Val)
c.485A>T (p.Glu162Val)
n.846A>T
c.971A>T (p.Glu324Val)
c.1019A>T (p.Glu340Val)
c.1016A>T (p.Glu339Val)
c.983A>T (p.Glu328Val)
3g.189868610G>ACA437413417TP63c.1023G>A (p.Glu341=)
c.741G>A (p.Glu247=)
c.486G>A (p.Glu162=)
n.847G>A
c.972G>A (p.Glu324=)
c.1020G>A (p.Glu340=)
c.1017G>A (p.Glu339=)
c.984G>A (p.Glu328=)
dbSNP
3g.189868610G>CCA355755153TP63c.1023G>C (p.Glu341Asp)
c.741G>C (p.Glu247Asp)
c.486G>C (p.Glu162Asp)
n.847G>C
c.972G>C (p.Glu324Asp)
c.1020G>C (p.Glu340Asp)
c.1017G>C (p.Glu339Asp)
c.984G>C (p.Glu328Asp)
3g.189868610G>TCA355755152TP63c.1023G>T (p.Glu341Asp)
c.741G>T (p.Glu247Asp)
c.486G>T (p.Glu162Asp)
n.847G>T
c.972G>T (p.Glu324Asp)
c.1020G>T (p.Glu340Asp)
c.1017G>T (p.Glu339Asp)
c.984G>T (p.Glu328Asp)
3g.189868611G>ACA355755154TP63c.1024G>A (p.Ala342Thr)
c.742G>A (p.Ala248Thr)
c.487G>A (p.Ala163Thr)
n.848G>A
c.973G>A (p.Ala325Thr)
c.1021G>A (p.Ala341Thr)
c.1018G>A (p.Ala340Thr)
c.985G>A (p.Ala329Thr)
3g.189868611G>CCA355755155TP63c.1024G>C (p.Ala342Pro)
c.742G>C (p.Ala248Pro)
c.487G>C (p.Ala163Pro)
n.848G>C
c.973G>C (p.Ala325Pro)
c.1021G>C (p.Ala341Pro)
c.1018G>C (p.Ala340Pro)
c.985G>C (p.Ala329Pro)
dbSNP
3g.189868611G>TCA355755156TP63c.1024G>T (p.Ala342Ser)
c.742G>T (p.Ala248Ser)
c.487G>T (p.Ala163Ser)
n.848G>T
c.973G>T (p.Ala325Ser)
c.1021G>T (p.Ala341Ser)
c.1018G>T (p.Ala340Ser)
c.985G>T (p.Ala329Ser)
3g.189868612C>ACA355755157TP63c.1025C>A (p.Ala342Asp)
c.743C>A (p.Ala248Asp)
c.488C>A (p.Ala163Asp)
n.849C>A
c.974C>A (p.Ala325Asp)
c.1022C>A (p.Ala341Asp)
c.1019C>A (p.Ala340Asp)
c.986C>A (p.Ala329Asp)
3g.189868612C>GCA355755158TP63c.1025C>G (p.Ala342Gly)
c.743C>G (p.Ala248Gly)
c.488C>G (p.Ala163Gly)
n.849C>G
c.974C>G (p.Ala325Gly)
c.1022C>G (p.Ala341Gly)
c.1019C>G (p.Ala340Gly)
c.986C>G (p.Ala329Gly)
dbSNP gnomAD v4
3g.189868612C>TCA355755159TP63c.1025C>T (p.Ala342Val)
c.743C>T (p.Ala248Val)
c.488C>T (p.Ala163Val)
n.849C>T
c.974C>T (p.Ala325Val)
c.1022C>T (p.Ala341Val)
c.1019C>T (p.Ala340Val)
c.986C>T (p.Ala329Val)
dbSNP
3g.189868613C>ACA437413427TP63c.1026C>A (p.Ala342=)
c.744C>A (p.Ala248=)
c.489C>A (p.Ala163=)
n.850C>A
c.975C>A (p.Ala325=)
c.1023C>A (p.Ala341=)
c.1020C>A (p.Ala340=)
c.987C>A (p.Ala329=)
3g.189868613C>GCA437413428TP63c.1026C>G (p.Ala342=)
c.744C>G (p.Ala248=)
c.489C>G (p.Ala163=)
n.850C>G
c.975C>G (p.Ala325=)
c.1023C>G (p.Ala341=)
c.1020C>G (p.Ala340=)
c.987C>G (p.Ala329=)
dbSNP
3g.189868613C>TCA437413431TP63c.1026C>T (p.Ala342=)
c.744C>T (p.Ala248=)
c.489C>T (p.Ala163=)
n.850C>T
c.975C>T (p.Ala325=)
c.1023C>T (p.Ala341=)
c.1020C>T (p.Ala340=)
c.987C>T (p.Ala329=)
dbSNP gnomAD v4
3g.189868614C>ACA437413433TP63c.1027C>A (p.Arg343=)
c.745C>A (p.Arg249=)
c.490C>A (p.Arg164=)
n.851C>A
c.976C>A (p.Arg326=)
c.1024C>A (p.Arg342=)
c.1021C>A (p.Arg341=)
c.988C>A (p.Arg330=)
3g.189868614C=CA1428495741TP63c.1027C= (p.Arg343=)
c.745C= (p.Arg249=)
c.490C= (p.Arg164=)
n.851C=
c.976C= (p.Arg326=)
c.1024C= (p.Arg342=)
c.1021C= (p.Arg341=)
c.988C= (p.Arg330=)
3g.189868614C>GCA355755160TP63c.1027C>G (p.Arg343Gly)
c.745C>G (p.Arg249Gly)
c.490C>G (p.Arg164Gly)
n.851C>G
c.976C>G (p.Arg326Gly)
c.1024C>G (p.Arg342Gly)
c.1021C>G (p.Arg341Gly)
c.988C>G (p.Arg330Gly)
ClinVar dbSNP
3g.189868614C>TCA10602901TP63c.1027C>T (p.Arg343Trp)
c.745C>T (p.Arg249Trp)
c.490C>T (p.Arg164Trp)
n.851C>T
c.976C>T (p.Arg326Trp)
c.1024C>T (p.Arg342Trp)
c.1021C>T (p.Arg341Trp)
c.988C>T (p.Arg330Trp)
ClinVar dbSNP
3g.189868615G>ACA118340TP63c.1028G>A (p.Arg343Gln)
c.746G>A (p.Arg249Gln)
c.491G>A (p.Arg164Gln)
n.852G>A
c.977G>A (p.Arg326Gln)
c.1025G>A (p.Arg342Gln)
c.1022G>A (p.Arg341Gln)
c.989G>A (p.Arg330Gln)
ClinVar dbSNP gnomAD v4 COSMIC
3g.189868615G>CCA355755161TP63c.1028G>C (p.Arg343Pro)
c.746G>C (p.Arg249Pro)
c.491G>C (p.Arg164Pro)
n.852G>C
c.977G>C (p.Arg326Pro)
c.1025G>C (p.Arg342Pro)
c.1022G>C (p.Arg341Pro)
c.989G>C (p.Arg330Pro)
dbSNP
3g.189868615G=CA1428495751TP63c.1028G= (p.Arg343=)
c.746G= (p.Arg249=)
c.491G= (p.Arg164=)
n.852G=
c.977G= (p.Arg326=)
c.1025G= (p.Arg342=)
c.1022G= (p.Arg341=)
c.989G= (p.Arg330=)
3g.189868615G>TCA355755162TP63c.1028G>T (p.Arg343Leu)
c.746G>T (p.Arg249Leu)
c.491G>T (p.Arg164Leu)
n.852G>T
c.977G>T (p.Arg326Leu)
c.1025G>T (p.Arg342Leu)
c.1022G>T (p.Arg341Leu)
c.989G>T (p.Arg330Leu)
dbSNP COSMIC COSMIC COSMIC
3g.189868616G>ACA437413441TP63c.1029G>A (p.Arg343=)
c.747G>A (p.Arg249=)
c.492G>A (p.Arg164=)
n.853G>A
c.978G>A (p.Arg326=)
c.1026G>A (p.Arg342=)
c.1023G>A (p.Arg341=)
c.990G>A (p.Arg330=)
dbSNP gnomAD v4
3g.189868616G>CCA437413443TP63c.1029G>C (p.Arg343=)
c.747G>C (p.Arg249=)
c.492G>C (p.Arg164=)
n.853G>C
c.978G>C (p.Arg326=)
c.1026G>C (p.Arg342=)
c.1023G>C (p.Arg341=)
c.990G>C (p.Arg330=)
dbSNP
3g.189868616G>TCA437413445TP63c.1029G>T (p.Arg343=)
c.747G>T (p.Arg249=)
c.492G>T (p.Arg164=)
n.853G>T
c.978G>T (p.Arg326=)
c.1026G>T (p.Arg342=)
c.1023G>T (p.Arg341=)
c.990G>T (p.Arg330=)
3g.189868617A>CCA355755163TP63c.1030A>C (p.Ile344Leu)
c.748A>C (p.Ile250Leu)
c.493A>C (p.Ile165Leu)
n.854A>C
c.979A>C (p.Ile327Leu)
c.1027A>C (p.Ile343Leu)
c.1024A>C (p.Ile342Leu)
c.991A>C (p.Ile331Leu)
3g.189868617A>GCA355755164TP63c.1030A>G (p.Ile344Val)
c.748A>G (p.Ile250Val)
c.493A>G (p.Ile165Val)
n.854A>G
c.979A>G (p.Ile327Val)
c.1027A>G (p.Ile343Val)
c.1024A>G (p.Ile342Val)
c.991A>G (p.Ile331Val)
3g.189868617A>TCA355755165TP63c.1030A>T (p.Ile344Phe)
c.748A>T (p.Ile250Phe)
c.493A>T (p.Ile165Phe)
n.854A>T
c.979A>T (p.Ile327Phe)
c.1027A>T (p.Ile343Phe)
c.1024A>T (p.Ile342Phe)
c.991A>T (p.Ile331Phe)
3g.189868618T>ACA355755166TP63c.1031T>A (p.Ile344Asn)
c.749T>A (p.Ile250Asn)
c.494T>A (p.Ile165Asn)
n.855T>A
c.980T>A (p.Ile327Asn)
c.1028T>A (p.Ile343Asn)
c.1025T>A (p.Ile342Asn)
c.992T>A (p.Ile331Asn)
3g.189868618T>CCA355755168TP63c.1031T>C (p.Ile344Thr)
c.749T>C (p.Ile250Thr)
c.494T>C (p.Ile165Thr)
n.855T>C
c.980T>C (p.Ile327Thr)
c.1028T>C (p.Ile343Thr)
c.1025T>C (p.Ile342Thr)
c.992T>C (p.Ile331Thr)
3g.189868618T>GCA355755167TP63c.1031T>G (p.Ile344Ser)
c.749T>G (p.Ile250Ser)
c.494T>G (p.Ile165Ser)
n.855T>G
c.980T>G (p.Ile327Ser)
c.1028T>G (p.Ile343Ser)
c.1025T>G (p.Ile342Ser)
c.992T>G (p.Ile331Ser)
3g.189868619C>ACA437413454TP63c.1032C>A (p.Ile344=)
c.750C>A (p.Ile250=)
c.495C>A (p.Ile165=)
n.856C>A
c.981C>A (p.Ile327=)
c.1029C>A (p.Ile343=)
c.1026C>A (p.Ile342=)
c.993C>A (p.Ile331=)
COSMIC COSMIC COSMIC
3g.189868619C=CA1428495756TP63c.1032C= (p.Ile344=)
c.750C= (p.Ile250=)
c.495C= (p.Ile165=)
n.856C=
c.981C= (p.Ile327=)
c.1029C= (p.Ile343=)
c.1026C= (p.Ile342=)
c.993C= (p.Ile331=)
3g.189868619C>GCA355755169TP63c.1032C>G (p.Ile344Met)
c.750C>G (p.Ile250Met)
c.495C>G (p.Ile165Met)
n.856C>G
c.981C>G (p.Ile327Met)
c.1029C>G (p.Ile343Met)
c.1026C>G (p.Ile342Met)
c.993C>G (p.Ile331Met)
dbSNP
3g.189868619C>TCA2752328TP63c.1032C>T (p.Ile344=)
c.750C>T (p.Ile250=)
c.495C>T (p.Ile165=)
n.856C>T
c.981C>T (p.Ile327=)
c.1029C>T (p.Ile343=)
c.1026C>T (p.Ile342=)
c.993C>T (p.Ile331=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868620T>ACA355755170TP63c.1033T>A (p.Cys345Ser)
c.751T>A (p.Cys251Ser)
c.496T>A (p.Cys166Ser)
n.857T>A
c.982T>A (p.Cys328Ser)
c.1030T>A (p.Cys344Ser)
c.1027T>A (p.Cys343Ser)
c.994T>A (p.Cys332Ser)
3g.189868620T>CCA118336TP63c.1033T>C (p.Cys345Arg)
c.751T>C (p.Cys251Arg)
c.496T>C (p.Cys166Arg)
n.857T>C
c.982T>C (p.Cys328Arg)
c.1030T>C (p.Cys344Arg)
c.1027T>C (p.Cys343Arg)
c.994T>C (p.Cys332Arg)
ClinVar dbSNP
3g.189868620T>GCA355755171TP63c.1033T>G (p.Cys345Gly)
c.751T>G (p.Cys251Gly)
c.496T>G (p.Cys166Gly)
n.857T>G
c.982T>G (p.Cys328Gly)
c.1030T>G (p.Cys344Gly)
c.1027T>G (p.Cys343Gly)
c.994T>G (p.Cys332Gly)
3g.189868620T=CA1428495762TP63c.1033T= (p.Cys345=)
c.751T= (p.Cys251=)
c.496T= (p.Cys166=)
n.857T=
c.982T= (p.Cys328=)
c.1030T= (p.Cys344=)
c.1027T= (p.Cys343=)
c.994T= (p.Cys332=)
3g.189868621G>ACA355755172TP63c.1034G>A (p.Cys345Tyr)
c.752G>A (p.Cys251Tyr)
c.497G>A (p.Cys166Tyr)
n.858G>A
c.983G>A (p.Cys328Tyr)
c.1031G>A (p.Cys344Tyr)
c.1028G>A (p.Cys343Tyr)
c.995G>A (p.Cys332Tyr)
3g.189868621G>CCA355755173TP63c.1034G>C (p.Cys345Ser)
c.752G>C (p.Cys251Ser)
c.497G>C (p.Cys166Ser)
n.858G>C
c.983G>C (p.Cys328Ser)
c.1031G>C (p.Cys344Ser)
c.1028G>C (p.Cys343Ser)
c.995G>C (p.Cys332Ser)
dbSNP
3g.189868621G>TCA355755174TP63c.1034G>T (p.Cys345Phe)
c.752G>T (p.Cys251Phe)
c.497G>T (p.Cys166Phe)
n.858G>T
c.983G>T (p.Cys328Phe)
c.1031G>T (p.Cys344Phe)
c.1028G>T (p.Cys343Phe)
c.995G>T (p.Cys332Phe)
ClinVar
3g.189868622T>ACA355755175TP63c.1035T>A (p.Cys345Ter)
c.753T>A (p.Cys251Ter)
c.498T>A (p.Cys166Ter)
n.859T>A
c.984T>A (p.Cys328Ter)
c.1032T>A (p.Cys344Ter)
c.1029T>A (p.Cys343Ter)
c.996T>A (p.Cys332Ter)
dbSNP
3g.189868622T>CCA437413464TP63c.1035T>C (p.Cys345=)
c.753T>C (p.Cys251=)
c.498T>C (p.Cys166=)
n.859T>C
c.984T>C (p.Cys328=)
c.1032T>C (p.Cys344=)
c.1029T>C (p.Cys343=)
c.996T>C (p.Cys332=)
3g.189868622T>GCA355755176TP63c.1035T>G (p.Cys345Trp)
c.753T>G (p.Cys251Trp)
c.498T>G (p.Cys166Trp)
n.859T>G
c.984T>G (p.Cys328Trp)
c.1032T>G (p.Cys344Trp)
c.1029T>G (p.Cys343Trp)
c.996T>G (p.Cys332Trp)
dbSNP
3g.189868623G>ACA355755177TP63c.1036G>A (p.Ala346Thr)
c.754G>A (p.Ala252Thr)
c.499G>A (p.Ala167Thr)
n.860G>A
c.985G>A (p.Ala329Thr)
c.1033G>A (p.Ala345Thr)
c.1030G>A (p.Ala344Thr)
c.997G>A (p.Ala333Thr)
dbSNP
3g.189868623G>CCA355755178TP63c.1036G>C (p.Ala346Pro)
c.754G>C (p.Ala252Pro)
c.499G>C (p.Ala167Pro)
n.860G>C
c.985G>C (p.Ala329Pro)
c.1033G>C (p.Ala345Pro)
c.1030G>C (p.Ala344Pro)
c.997G>C (p.Ala333Pro)
3g.189868623G=CA1428495771TP63c.1036G= (p.Ala346=)
c.754G= (p.Ala252=)
c.499G= (p.Ala167=)
n.860G=
c.985G= (p.Ala329=)
c.1033G= (p.Ala345=)
c.1030G= (p.Ala344=)
c.997G= (p.Ala333=)
3g.189868623G>TCA2752329TP63c.1036G>T (p.Ala346Ser)
c.754G>T (p.Ala252Ser)
c.499G>T (p.Ala167Ser)
n.860G>T
c.985G>T (p.Ala329Ser)
c.1033G>T (p.Ala345Ser)
c.1030G>T (p.Ala344Ser)
c.997G>T (p.Ala333Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868624C>ACA355755179TP63c.1037C>A (p.Ala346Asp)
c.755C>A (p.Ala252Asp)
c.500C>A (p.Ala167Asp)
n.861C>A
c.986C>A (p.Ala329Asp)
c.1034C>A (p.Ala345Asp)
c.1031C>A (p.Ala344Asp)
c.998C>A (p.Ala333Asp)
3g.189868624C=CA1428495781TP63c.1037C= (p.Ala346=)
c.755C= (p.Ala252=)
c.500C= (p.Ala167=)
n.861C=
c.986C= (p.Ala329=)
c.1034C= (p.Ala345=)
c.1031C= (p.Ala344=)
c.998C= (p.Ala333=)
3g.189868624C>GCA204448TP63c.1037C>G (p.Ala346Gly)
c.755C>G (p.Ala252Gly)
c.500C>G (p.Ala167Gly)
n.861C>G
c.986C>G (p.Ala329Gly)
c.1034C>G (p.Ala345Gly)
c.1031C>G (p.Ala344Gly)
c.998C>G (p.Ala333Gly)
ClinVar dbSNP
3g.189868624C>TCA355755180TP63c.1037C>T (p.Ala346Val)
c.755C>T (p.Ala252Val)
c.500C>T (p.Ala167Val)
n.861C>T
c.986C>T (p.Ala329Val)
c.1034C>T (p.Ala345Val)
c.1031C>T (p.Ala344Val)
c.998C>T (p.Ala333Val)
dbSNP

Number of alleles fetched