OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115738176del | CA525428097 | CASQ2 | c.256+50del (n.256+50del) c.532+50del (n.532+50del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738176T>G | CA1023883 | CASQ2 | c.256+48A>C (n.256+48A>C) c.532+48A>C (n.532+48A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738176T= | CA1146064490 | CASQ2 | c.256+48A= (n.256+48A=) c.532+48A= (n.532+48A=) | |
| 1 | g.115738177G>A | CA885950361 | CASQ2 | c.256+47C>T (n.256+47C>T) c.532+47C>T (n.532+47C>T) | dbSNP |
| 1 | g.115738177G>C | CA1190729238 | CASQ2 | c.256+47C>G (n.256+47C>G) c.532+47C>G (n.532+47C>G) | dbSNP gnomAD v4 |
| 1 | g.115738177G= | CA1190729237 | CASQ2 | c.256+47C= (n.256+47C=) c.532+47C= (n.532+47C=) | |
| 1 | g.115738177G>T | CA2647280056 | CASQ2 | c.256+47C>A (n.256+47C>A) c.532+47C>A (n.532+47C>A) | gnomAD v4 |
| 1 | g.115738178G>T | CA2647280057 | CASQ2 | c.256+46C>A (n.256+46C>A) c.532+46C>A (n.532+46C>A) | gnomAD v4 |
| 1 | g.115738179A>C | CA2647280058 | CASQ2 | c.256+45T>G (n.256+45T>G) c.532+45T>G (n.532+45T>G) | gnomAD v4 |
| 1 | g.115738180A= | CA1190729239 | CASQ2 | c.256+44T= (n.256+44T=) c.532+44T= (n.532+44T=) | |
| 1 | g.115738180A>G | CA1006061620 | CASQ2 | c.256+44T>C (n.256+44T>C) c.532+44T>C (n.532+44T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738180A>T | CA525428100 | CASQ2 | c.256+44T>A (n.256+44T>A) c.532+44T>A (n.532+44T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738181T>A | CA2574037223 | CASQ2 | c.256+43A>T (n.256+43A>T) c.532+43A>T (n.532+43A>T) | |
| 1 | g.115738182C= | CA1141849014 | CASQ2 | c.256+42G= (n.256+42G=) c.532+42G= (n.532+42G=) | |
| 1 | g.115738182C>G | CA1023884 | CASQ2 | c.256+42G>C (n.256+42G>C) c.532+42G>C (n.532+42G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738186C= | CA1148283233 | CASQ2 | c.256+38G= (n.256+38G=) c.532+38G= (n.532+38G=) | |
| 1 | g.115738186C>T | CA1023885 | CASQ2 | c.256+38G>A (n.256+38G>A) c.532+38G>A (n.532+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738189T>C | CA2574037224 | CASQ2 | c.256+35A>G (n.256+35A>G) c.532+35A>G (n.532+35A>G) | |
| 1 | g.115738191del | CA2647280059 | CASQ2 | c.256+33del (n.256+33del) c.532+33del (n.532+33del) | gnomAD v4 |
| 1 | g.115738191A>T | CA2647280060 | CASQ2 | c.256+33T>A (n.256+33T>A) c.532+33T>A (n.532+33T>A) | gnomAD v4 |
| 1 | g.115738192G>C | CA2647280061 | CASQ2 | c.256+32C>G (n.256+32C>G) c.532+32C>G (n.532+32C>G) | gnomAD v4 |
| 1 | g.115738192G= | CA1190729240 | CASQ2 | c.256+32C= (n.256+32C=) c.532+32C= (n.532+32C=) | |
| 1 | g.115738192G>T | CA1023886 | CASQ2 | c.256+32C>A (n.256+32C>A) c.532+32C>A (n.532+32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738196G>T | CA2647280062 | CASQ2 | c.256+28C>A (n.256+28C>A) c.532+28C>A (n.532+28C>A) | gnomAD v4 |
| 1 | g.115738197A= | CA1190729241 | CASQ2 | c.256+27T= (n.256+27T=) c.532+27T= (n.532+27T=) | |
| 1 | g.115738197A>G | CA885950364 | CASQ2 | c.256+27T>C (n.256+27T>C) c.532+27T>C (n.532+27T>C) | dbSNP gnomAD v4 |
| 1 | g.115738198T>A | CA2647280063 | CASQ2 | c.256+26A>T (n.256+26A>T) c.532+26A>T (n.532+26A>T) | gnomAD v4 |
| 1 | g.115738199C= | CA1144283043 | CASQ2 | c.256+25G= (n.256+25G=) c.532+25G= (n.532+25G=) | |
| 1 | g.115738199C>G | CA2574037225 | CASQ2 | c.256+25G>C (n.256+25G>C) c.532+25G>C (n.532+25G>C) | gnomAD v4 |
| 1 | g.115738199C>T | CA1023887 | CASQ2 | c.256+25G>A (n.256+25G>A) c.532+25G>A (n.532+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738200G>A | CA29603477 | CASQ2 | c.256+24C>T (n.256+24C>T) c.532+24C>T (n.532+24C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738200G= | CA1190729242 | CASQ2 | c.256+24C= (n.256+24C=) c.532+24C= (n.532+24C=) | |
| 1 | g.115738200G>T | CA2574037228 | CASQ2 | c.256+24C>A (n.256+24C>A) c.532+24C>A (n.532+24C>A) | gnomAD v4 |
| 1 | g.115738201G>T | CA646003724 | CASQ2 | c.256+23C>A (n.256+23C>A) c.532+23C>A (n.532+23C>A) | gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.115738202C= | CA1190729243 | CASQ2 | c.256+22G= (n.256+22G=) c.532+22G= (n.532+22G=) | |
| 1 | g.115738202C>T | CA525428101 | CASQ2 | c.256+22G>A (n.256+22G>A) c.532+22G>A (n.532+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738203T>C | CA1023888 | CASQ2 | c.256+21A>G (n.256+21A>G) c.532+21A>G (n.532+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738203T>G | CA2647280064 | CASQ2 | c.256+21A>C (n.256+21A>C) c.532+21A>C (n.532+21A>C) | gnomAD v4 |
| 1 | g.115738203T= | CA1149073654 | CASQ2 | c.256+21A= (n.256+21A=) c.532+21A= (n.532+21A=) | |
| 1 | g.115738204G>A | CA2647280065 | CASQ2 | c.256+20C>T (n.256+20C>T) c.532+20C>T (n.532+20C>T) | gnomAD v4 |
| 1 | g.115738204G>T | CA2647280066 | CASQ2 | c.256+20C>A (n.256+20C>A) c.532+20C>A (n.532+20C>A) | gnomAD v4 |
| 1 | g.115738207del | CA2574037231 | CASQ2 | c.256+20del (n.256+20del) c.532+20del (n.532+20del) | |
| 1 | g.115738205G>T | CA2647280067 | CASQ2 | c.256+19C>A (n.256+19C>A) c.532+19C>A (n.532+19C>A) | gnomAD v4 |
| 1 | g.115738206G>A | CA1190729245 | CASQ2 | c.256+18C>T (n.256+18C>T) c.532+18C>T (n.532+18C>T) | dbSNP |
| 1 | g.115738206G= | CA1190729244 | CASQ2 | c.256+18C= (n.256+18C=) c.532+18C= (n.532+18C=) | |
| 1 | g.115738206G>T | CA2647280068 | CASQ2 | c.256+18C>A (n.256+18C>A) c.532+18C>A (n.532+18C>A) | gnomAD v4 |
| 1 | g.115738207G>A | CA1023889 | CASQ2 | c.256+17C>T (n.256+17C>T) c.532+17C>T (n.532+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738207G= | CA1190729246 | CASQ2 | c.256+17C= (n.256+17C=) c.532+17C= (n.532+17C=) | |
| 1 | g.115738207G>T | CA1023890 | CASQ2 | c.256+17C>A (n.256+17C>A) c.532+17C>A (n.532+17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115738208T>A | CA2647280069 | CASQ2 | c.256+16A>T (n.256+16A>T) c.532+16A>T (n.532+16A>T) | gnomAD v4 |
| 1 | g.115738208T>G | CA525428109 | CASQ2 | c.256+16A>C (n.256+16A>C) c.532+16A>C (n.532+16A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738208T= | CA1190729247 | CASQ2 | c.256+16A= (n.256+16A=) c.532+16A= (n.532+16A=) | |
| 1 | g.115738210G>A | CA1006061631 | CASQ2 | c.256+14C>T (n.256+14C>T) c.532+14C>T (n.532+14C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738210G= | CA1190729248 | CASQ2 | c.256+14C= (n.256+14C=) c.532+14C= (n.532+14C=) | |
| 1 | g.115738210G>T | CA2574037235 | CASQ2 | c.256+14C>A (n.256+14C>A) c.532+14C>A (n.532+14C>A) | ClinVar gnomAD v4 |
| 1 | g.115738211G>A | CA885950374 | CASQ2 | c.256+13C>T (n.256+13C>T) c.532+13C>T (n.532+13C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115738211G= | CA1190729249 | CASQ2 | c.256+13C= (n.256+13C=) c.532+13C= (n.532+13C=) | |
| 1 | g.115738211G>T | CA2647280070 | CASQ2 | c.256+13C>A (n.256+13C>A) c.532+13C>A (n.532+13C>A) | gnomAD v4 |
| 1 | g.115738212C>T | CA2647280071 | CASQ2 | c.256+12G>A (n.256+12G>A) c.532+12G>A (n.532+12G>A) | gnomAD v4 |
| 1 | g.115738213A>G | CA2647280072 | CASQ2 | c.256+11T>C (n.256+11T>C) c.532+11T>C (n.532+11T>C) | gnomAD v4 |
| 1 | g.115738213A>T | CA2574037236 | CASQ2 | c.256+11T>A (n.256+11T>A) c.532+11T>A (n.532+11T>A) | |
| 1 | g.115738214G>A | CA2647280073 | CASQ2 | c.256+10C>T (n.256+10C>T) c.532+10C>T (n.532+10C>T) | gnomAD v4 |
| 1 | g.115738214G>T | CA2647280074 | CASQ2 | c.256+10C>A (n.256+10C>A) c.532+10C>A (n.532+10C>A) | gnomAD v4 |
| 1 | g.115738215A= | CA1190729250 | CASQ2 | c.256+9T= (n.256+9T=) c.532+9T= (n.532+9T=) | |
| 1 | g.115738215A>C | CA915941391 | CASQ2 | c.256+9T>G (n.256+9T>G) c.532+9T>G (n.532+9T>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115738215A>G | CA885950375 | CASQ2 | c.256+9T>C (n.256+9T>C) c.532+9T>C (n.532+9T>C) | dbSNP gnomAD v4 |
| 1 | g.115738216C>A | CA2739275189 | CASQ2 | c.256+8G>T (n.256+8G>T) c.532+8G>T (n.532+8G>T) | ClinVar |
| 1 | g.115738216C= | CA1190729251 | CASQ2 | c.256+8G= (n.256+8G=) c.532+8G= (n.532+8G=) | |
| 1 | g.115738217A= | CA1190729252 | CASQ2 | c.256+7T= (n.256+7T=) c.532+7T= (n.532+7T=) | |
| 1 | g.115738217A>C | CA1006061633 | CASQ2 | c.256+7T>G (n.256+7T>G) c.532+7T>G (n.532+7T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738217_115738218dup | CA1190729253 | CASQ2 | c.256+6_256+7dup (n.256+6_256+7dup) c.532+6_532+7dup (n.532+6_532+7dup) | dbSNP |
| 1 | g.115738218A>G | CA2574037237 | CASQ2 | c.256+6T>C (n.256+6T>C) c.532+6T>C (n.532+6T>C) | gnomAD v4 |
| 1 | g.115738218A>T | CA2647280075 | CASQ2 | c.256+6T>A (n.256+6T>A) c.532+6T>A (n.532+6T>A) | gnomAD v4 |
| 1 | g.115738220T>C | CA2647280076 | CASQ2 | c.256+4A>G (n.256+4A>G) c.532+4A>G (n.532+4A>G) | gnomAD v4 |
| 1 | g.115738222A= | CA1190729254 | CASQ2 | c.256+2T= (n.256+2T=) c.532+2T= (n.532+2T=) | |
| 1 | g.115738222A>C | CA341763770 | CASQ2 | c.256+2T>G (n.256+2T>G) c.532+2T>G (n.532+2T>G) | |
| 1 | g.115738222A>G | CA1023891 | CASQ2 | c.256+2T>C (n.256+2T>C) c.532+2T>C (n.532+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738222A>T | CA341763771 | CASQ2 | c.256+2T>A (n.256+2T>A) c.532+2T>A (n.532+2T>A) | |
| 1 | g.115738223C>A | CA341763772 | CASQ2 | c.256+1G>T (n.256+1G>T) c.532+1G>T (n.532+1G>T) | |
| 1 | g.115738223C= | CA1190729255 | CASQ2 | c.256+1G= (n.256+1G=) c.532+1G= (n.532+1G=) | |
| 1 | g.115738223C>G | CA341763773 | CASQ2 | c.256+1G>C (n.256+1G>C) c.532+1G>C (n.532+1G>C) | |
| 1 | g.115738223C>T | CA341763774 | CASQ2 | c.256+1G>A (n.256+1G>A) c.532+1G>A (n.532+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738224A= | CA1190729256 | CASQ2 | c.256T= (p.Tyr86=) c.532T= (p.Tyr178=) | |
| 1 | g.115738224A>C | CA341763775 | CASQ2 | c.256T>G (p.Tyr86Asp) c.532T>G (p.Tyr178Asp) | |
| 1 | g.115738224A>G | CA341763776 | CASQ2 | c.256T>C (p.Tyr86His) c.532T>C (p.Tyr178His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115738224A>T | CA341763777 | CASQ2 | c.256T>A (p.Tyr86Asn) c.532T>A (p.Tyr178Asn) | |
| 1 | g.115738225T>A | CA341763778 | CASQ2 | c.255A>T (p.Glu85Asp) c.531A>T (p.Glu177Asp) | dbSNP |
| 1 | g.115738225T>C | CA419895461 | CASQ2 | c.255A>G (p.Glu85=) c.531A>G (p.Glu177=) | gnomAD v4 |
| 1 | g.115738225T>G | CA341763779 | CASQ2 | c.255A>C (p.Glu85Asp) c.531A>C (p.Glu177Asp) | |
| 1 | g.115738225T= | CA1190729257 | CASQ2 | c.255A= (p.Glu85=) c.531A= (p.Glu177=) | |
| 1 | g.115738226T>A | CA341763780 | CASQ2 | c.254A>T (p.Glu85Val) c.530A>T (p.Glu177Val) | gnomAD v4 |
| 1 | g.115738226T>C | CA341763781 | CASQ2 | c.254A>G (p.Glu85Gly) c.530A>G (p.Glu177Gly) | |
| 1 | g.115738226T>G | CA341763782 | CASQ2 | c.254A>C (p.Glu85Ala) c.530A>C (p.Glu177Ala) | |
| 1 | g.115738227C>A | CA341763785 | CASQ2 | c.253G>T (p.Glu85Ter) c.529G>T (p.Glu177Ter) | |
| 1 | g.115738227C>G | CA341763783 | CASQ2 | c.253G>C (p.Glu85Gln) c.529G>C (p.Glu177Gln) | |
| 1 | g.115738227C>T | CA341763784 | CASQ2 | c.253G>A (p.Glu85Lys) c.529G>A (p.Glu177Lys) | |
| 1 | g.115738228T>A | CA419895471 | CASQ2 | c.252A>T (p.Ser84=) c.528A>T (p.Ser176=) | |
| 1 | g.115738228T>C | CA419895467 | CASQ2 | c.252A>G (p.Ser84=) c.528A>G (p.Ser176=) | gnomAD v4 |
| 1 | g.115738228T>G | CA419895466 | CASQ2 | c.252A>C (p.Ser84=) c.528A>C (p.Ser176=) | |
| 1 | g.115738229G>A | CA341763786 | CASQ2 | c.251C>T (p.Ser84Leu) c.527C>T (p.Ser176Leu) | |
| 1 | g.115738229G>C | CA341763787 | CASQ2 | c.251C>G (p.Ser84Ter) c.527C>G (p.Ser176Ter) | |
| 1 | g.115738229G>T | CA341763788 | CASQ2 | c.251C>A (p.Ser84Ter) c.527C>A (p.Ser176Ter) | gnomAD v4 |
| 1 | g.115738230A= | CA1190729258 | CASQ2 | c.250T= (p.Ser84=) c.526T= (p.Ser176=) | |
| 1 | g.115738230A>C | CA341763789 | CASQ2 | c.250T>G (p.Ser84Ala) c.526T>G (p.Ser176Ala) | |
| 1 | g.115738230A>G | CA341763790 | CASQ2 | c.250T>C (p.Ser84Pro) c.526T>C (p.Ser176Pro) | dbSNP gnomAD v4 |
| 1 | g.115738230A>T | CA341763791 | CASQ2 | c.250T>A (p.Ser84Thr) c.526T>A (p.Ser176Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738231G>A | CA419895474 | CASQ2 | c.249C>T (p.Asp83=) c.525C>T (p.Asp175=) | gnomAD v4 |
| 1 | g.115738231G>C | CA341763792 | CASQ2 | c.249C>G (p.Asp83Glu) c.525C>G (p.Asp175Glu) | |
| 1 | g.115738231G>T | CA341763793 | CASQ2 | c.249C>A (p.Asp83Glu) c.525C>A (p.Asp175Glu) | gnomAD v4 |
| 1 | g.115738232T>A | CA341763794 | CASQ2 | c.248A>T (p.Asp83Val) c.524A>T (p.Asp175Val) | |
| 1 | g.115738232T>C | CA341763795 | CASQ2 | c.248A>G (p.Asp83Gly) c.524A>G (p.Asp175Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738232T>G | CA341763796 | CASQ2 | c.248A>C (p.Asp83Ala) c.524A>C (p.Asp175Ala) | |
| 1 | g.115738232T= | CA1190729259 | CASQ2 | c.248A= (p.Asp83=) c.524A= (p.Asp175=) | |
| 1 | g.115738233C>A | CA341763798 | CASQ2 | c.247G>T (p.Asp83Tyr) c.523G>T (p.Asp175Tyr) | dbSNP |
| 1 | g.115738233C= | CA1190729260 | CASQ2 | c.247G= (p.Asp83=) c.523G= (p.Asp175=) | |
| 1 | g.115738233C>G | CA341763799 | CASQ2 | c.247G>C (p.Asp83His) c.523G>C (p.Asp175His) | |
| 1 | g.115738233C>T | CA341763797 | CASQ2 | c.247G>A (p.Asp83Asn) c.523G>A (p.Asp175Asn) | |
| 1 | g.115738234C>A | CA341763800 | CASQ2 | c.246G>T (p.Glu82Asp) c.522G>T (p.Glu174Asp) | |
| 1 | g.115738234C>G | CA341763801 | CASQ2 | c.246G>C (p.Glu82Asp) c.522G>C (p.Glu174Asp) | |
| 1 | g.115738234C>T | CA419895475 | CASQ2 | c.246G>A (p.Glu82=) c.522G>A (p.Glu174=) | ClinVar dbSNP |
| 1 | g.115738235del | CA2647280077 | CASQ2 | c.245del (p.Glu82GlyfsTer?) c.521del (p.Glu174GlyfsTer?) | gnomAD v4 |
| 1 | g.115738235T>A | CA341763802 | CASQ2 | c.245A>T (p.Glu82Val) c.521A>T (p.Glu174Val) | |
| 1 | g.115738235T>C | CA341763803 | CASQ2 | c.245A>G (p.Glu82Gly) c.521A>G (p.Glu174Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738235T>G | CA341763804 | CASQ2 | c.245A>C (p.Glu82Ala) c.521A>C (p.Glu174Ala) | |
| 1 | g.115738235T= | CA1190729261 | CASQ2 | c.245A= (p.Glu82=) c.521A= (p.Glu174=) | |
| 1 | g.115738236C>A | CA341763805 | CASQ2 | c.244G>T (p.Glu82Ter) c.520G>T (p.Glu174Ter) | |
| 1 | g.115738236C>G | CA341763806 | CASQ2 | c.244G>C (p.Glu82Gln) c.520G>C (p.Glu174Gln) | |
| 1 | g.115738236C>T | CA341763807 | CASQ2 | c.244G>A (p.Glu82Lys) c.520G>A (p.Glu174Lys) | |
| 1 | g.115738237A= | CA1190729262 | CASQ2 | c.243T= (p.Ser81=) c.519T= (p.Ser173=) | |
| 1 | g.115738237A>C | CA341763808 | CASQ2 | c.243T>G (p.Ser81Arg) c.519T>G (p.Ser173Arg) | |
| 1 | g.115738237A>G | CA29603512 | CASQ2 | c.243T>C (p.Ser81=) c.519T>C (p.Ser173=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115738237A>T | CA341763809 | CASQ2 | c.243T>A (p.Ser81Arg) c.519T>A (p.Ser173Arg) | |
| 1 | g.115738238C>A | CA301897 | CASQ2 | c.242G>T (p.Ser81Ile) c.518G>T (p.Ser173Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738238C= | CA1190729263 | CASQ2 | c.242G= (p.Ser81=) c.518G= (p.Ser173=) | |
| 1 | g.115738238C>G | CA341763810 | CASQ2 | c.242G>C (p.Ser81Thr) c.518G>C (p.Ser173Thr) | |
| 1 | g.115738238C>T | CA341763811 | CASQ2 | c.242G>A (p.Ser81Asn) c.518G>A (p.Ser173Asn) | gnomAD v4 COSMIC |
| 1 | g.115738239T>A | CA341763814 | CASQ2 | c.241A>T (p.Ser81Cys) c.517A>T (p.Ser173Cys) | |
| 1 | g.115738239T>C | CA341763813 | CASQ2 | c.241A>G (p.Ser81Gly) c.517A>G (p.Ser173Gly) | |
| 1 | g.115738239T>G | CA341763812 | CASQ2 | c.241A>C (p.Ser81Arg) c.517A>C (p.Ser173Arg) | |
| 1 | g.115738240C>A | CA341763815 | CASQ2 | c.240G>T (p.Lys80Asn) c.516G>T (p.Lys172Asn) | |
| 1 | g.115738240C>G | CA341763816 | CASQ2 | c.240G>C (p.Lys80Asn) c.516G>C (p.Lys172Asn) | |
| 1 | g.115738240C>T | CA419895478 | CASQ2 | c.240G>A (p.Lys80=) c.516G>A (p.Lys172=) | |
| 1 | g.115738241T>A | CA341763817 | CASQ2 | c.239A>T (p.Lys80Met) c.515A>T (p.Lys172Met) | |
| 1 | g.115738241T>C | CA341763818 | CASQ2 | c.239A>G (p.Lys80Arg) c.515A>G (p.Lys172Arg) | |
| 1 | g.115738241T>G | CA341763819 | CASQ2 | c.239A>C (p.Lys80Thr) c.515A>C (p.Lys172Thr) | |
| 1 | g.115738242T>A | CA341763820 | CASQ2 | c.238A>T (p.Lys80Ter) c.514A>T (p.Lys172Ter) | |
| 1 | g.115738242T>C | CA341763821 | CASQ2 | c.238A>G (p.Lys80Glu) c.514A>G (p.Lys172Glu) | |
| 1 | g.115738242T>G | CA341763822 | CASQ2 | c.238A>C (p.Lys80Gln) c.514A>C (p.Lys172Gln) | |
| 1 | g.115738243G>A | CA419895479 | CASQ2 | c.237C>T (p.Phe79=) c.513C>T (p.Phe171=) | dbSNP gnomAD v4 |
| 1 | g.115738243G>C | CA341763823 | CASQ2 | c.237C>G (p.Phe79Leu) c.513C>G (p.Phe171Leu) | |
| 1 | g.115738243G= | CA1190729264 | CASQ2 | c.237C= (p.Phe79=) c.513C= (p.Phe171=) | |
| 1 | g.115738243G>T | CA341763824 | CASQ2 | c.237C>A (p.Phe79Leu) c.513C>A (p.Phe171Leu) | |
| 1 | g.115738244A= | CA1190729265 | CASQ2 | c.236T= (p.Phe79=) c.512T= (p.Phe171=) | |
| 1 | g.115738244A>C | CA341763825 | CASQ2 | c.236T>G (p.Phe79Cys) c.512T>G (p.Phe171Cys) | |
| 1 | g.115738244A>G | CA341763826 | CASQ2 | c.236T>C (p.Phe79Ser) c.512T>C (p.Phe171Ser) | dbSNP |
| 1 | g.115738244A>T | CA341763827 | CASQ2 | c.236T>A (p.Phe79Tyr) c.512T>A (p.Phe171Tyr) | gnomAD v4 |
| 1 | g.115738245A>C | CA341763828 | CASQ2 | c.235T>G (p.Phe79Val) c.511T>G (p.Phe171Val) | |
| 1 | g.115738245A>G | CA341763830 | CASQ2 | c.235T>C (p.Phe79Leu) c.511T>C (p.Phe171Leu) | |
| 1 | g.115738245A>T | CA341763829 | CASQ2 | c.235T>A (p.Phe79Ile) c.511T>A (p.Phe171Ile) | |
| 1 | g.115738246A>C | CA341763831 | CASQ2 | c.234T>G (p.Phe78Leu) c.510T>G (p.Phe170Leu) | |
| 1 | g.115738246A>G | CA419895480 | CASQ2 | c.234T>C (p.Phe78=) c.510T>C (p.Phe170=) | |
| 1 | g.115738246A>T | CA341763832 | CASQ2 | c.234T>A (p.Phe78Leu) c.510T>A (p.Phe170Leu) | |
| 1 | g.115738247A>C | CA341763833 | CASQ2 | c.233T>G (p.Phe78Cys) c.509T>G (p.Phe170Cys) | |
| 1 | g.115738247A>G | CA341763835 | CASQ2 | c.233T>C (p.Phe78Ser) c.509T>C (p.Phe170Ser) | |
| 1 | g.115738247A>T | CA341763834 | CASQ2 | c.233T>A (p.Phe78Tyr) c.509T>A (p.Phe170Tyr) | |
| 1 | g.115738248A>C | CA341763836 | CASQ2 | c.232T>G (p.Phe78Val) c.508T>G (p.Phe170Val) | gnomAD v4 |
| 1 | g.115738248A>G | CA341763837 | CASQ2 | c.232T>C (p.Phe78Leu) c.508T>C (p.Phe170Leu) | |
| 1 | g.115738248A>T | CA341763838 | CASQ2 | c.232T>A (p.Phe78Ile) c.508T>A (p.Phe170Ile) | |
| 1 | g.115738249del | CA645523451 | CASQ2 | c.231del (p.Phe79SerfsTer?) c.507del (p.Phe171SerfsTer?) | COSMIC |
| 1 | g.115738249G>A | CA419895481 | CASQ2 | c.231C>T (p.Gly77=) c.507C>T (p.Gly169=) | |
| 1 | g.115738249G>C | CA419895482 | CASQ2 | c.231C>G (p.Gly77=) c.507C>G (p.Gly169=) | |
| 1 | g.115738249G>T | CA419895483 | CASQ2 | c.231C>A (p.Gly77=) c.507C>A (p.Gly169=) | |
| 1 | g.115738250C>A | CA341763839 | CASQ2 | c.230G>T (p.Gly77Val) c.506G>T (p.Gly169Val) | |
| 1 | g.115738250C>G | CA341763840 | CASQ2 | c.230G>C (p.Gly77Ala) c.506G>C (p.Gly169Ala) | |
| 1 | g.115738250C>T | CA341763841 | CASQ2 | c.230G>A (p.Gly77Asp) c.506G>A (p.Gly169Asp) | |
| 1 | g.115738251C>A | CA341763843 | CASQ2 | c.229G>T (p.Gly77Cys) c.505G>T (p.Gly169Cys) | gnomAD v4 |
| 1 | g.115738251C= | CA1190729266 | CASQ2 | c.229G= (p.Gly77=) c.505G= (p.Gly169=) | |
| 1 | g.115738251C>G | CA341763842 | CASQ2 | c.229G>C (p.Gly77Arg) c.505G>C (p.Gly169Arg) | |
| 1 | g.115738251C>T | CA29603527 | CASQ2 | c.229G>A (p.Gly77Ser) c.505G>A (p.Gly169Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738252A= | CA1190729267 | CASQ2 | c.228T= (p.Ile76=) c.504T= (p.Ile168=) | |
| 1 | g.115738252A>C | CA341763844 | CASQ2 | c.228T>G (p.Ile76Met) c.504T>G (p.Ile168Met) | |
| 1 | g.115738252A>G | CA1023892 | CASQ2 | c.228T>C (p.Ile76=) c.504T>C (p.Ile168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738252A>T | CA419895484 | CASQ2 | c.228T>A (p.Ile76=) c.504T>A (p.Ile168=) | |
| 1 | g.115738253A= | CA1142216372 | CASQ2 | c.227T= (p.Ile76=) c.503T= (p.Ile168=) | |
| 1 | g.115738253A>C | CA341763845 | CASQ2 | c.227T>G (p.Ile76Ser) c.503T>G (p.Ile168Ser) | |
| 1 | g.115738253A>G | CA301894 | CASQ2 | c.227T>C (p.Ile76Thr) c.503T>C (p.Ile168Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738253A>T | CA341763846 | CASQ2 | c.227T>A (p.Ile76Asn) c.503T>A (p.Ile168Asn) | |
| 1 | g.115738254T>A | CA341763849 | CASQ2 | c.226A>T (p.Ile76Phe) c.502A>T (p.Ile168Phe) | |
| 1 | g.115738254T>C | CA341763847 | CASQ2 | c.226A>G (p.Ile76Val) c.502A>G (p.Ile168Val) | COSMIC |
| 1 | g.115738254T>G | CA341763848 | CASQ2 | c.226A>C (p.Ile76Leu) c.502A>C (p.Ile168Leu) | gnomAD v4 |
| 1 | g.115738255G>A | CA419895485 | CASQ2 | c.225C>T (p.Leu75=) c.501C>T (p.Leu167=) | |
| 1 | g.115738255G>C | CA1023893 | CASQ2 | c.225C>G (p.Leu75=) c.501C>G (p.Leu167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738255G= | CA1142092272 | CASQ2 | c.225C= (p.Leu75=) c.501C= (p.Leu167=) | |
| 1 | g.115738255G>T | CA419895486 | CASQ2 | c.225C>A (p.Leu75=) c.501C>A (p.Leu167=) | |
| 1 | g.115738256A= | CA1141581000 | CASQ2 | c.224T= (p.Leu75=) c.500T= (p.Leu167=) | |
| 1 | g.115738256A>C | CA341763850 | CASQ2 | c.224T>G (p.Leu75Arg) c.500T>G (p.Leu167Arg) | |
| 1 | g.115738256A>G | CA341763851 | CASQ2 | c.224T>C (p.Leu75Pro) c.500T>C (p.Leu167Pro) | |
| 1 | g.115738256A>T | CA258048 | CASQ2 | c.224T>A (p.Leu75His) c.500T>A (p.Leu167His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115738257G>A | CA341763852 | CASQ2 | c.223C>T (p.Leu75Phe) c.499C>T (p.Leu167Phe) | |
| 1 | g.115738257G>C | CA341763853 | CASQ2 | c.223C>G (p.Leu75Val) c.499C>G (p.Leu167Val) | |
| 1 | g.115738257G>T | CA341763854 | CASQ2 | c.223C>A (p.Leu75Ile) c.499C>A (p.Leu167Ile) | |
| 1 | g.115738258T>A | CA341763855 | CASQ2 | c.222A>T (p.Lys74Asn) c.498A>T (p.Lys166Asn) | ClinVar dbSNP |
| 1 | g.115738258T>C | CA419895487 | CASQ2 | c.222A>G (p.Lys74=) c.498A>G (p.Lys166=) | |
| 1 | g.115738258T>G | CA341763856 | CASQ2 | c.222A>C (p.Lys74Asn) c.498A>C (p.Lys166Asn) | |
| 1 | g.115738259T>A | CA341763857 | CASQ2 | c.221A>T (p.Lys74Ile) c.497A>T (p.Lys166Ile) | |
| 1 | g.115738259T>C | CA341763858 | CASQ2 | c.221A>G (p.Lys74Arg) c.497A>G (p.Lys166Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115738259T>G | CA341763859 | CASQ2 | c.221A>C (p.Lys74Thr) c.497A>C (p.Lys166Thr) | |
| 1 | g.115738259T= | CA1190729268 | CASQ2 | c.221A= (p.Lys74=) c.497A= (p.Lys166=) | |
| 1 | g.115738260T>A | CA341763860 | CASQ2 | c.220A>T (p.Lys74Ter) c.496A>T (p.Lys166Ter) | |
| 1 | g.115738260T>C | CA341763861 | CASQ2 | c.220A>G (p.Lys74Glu) c.496A>G (p.Lys166Glu) | gnomAD v4 |
| 1 | g.115738260T>G | CA1023894 | CASQ2 | c.220A>C (p.Lys74Gln) c.496A>C (p.Lys166Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738260T= | CA1190729269 | CASQ2 | c.220A= (p.Lys74=) c.496A= (p.Lys166=) | |
| 1 | g.115738261G>A | CA419895488 | CASQ2 | c.219C>T (p.Ile73=) c.495C>T (p.Ile165=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738261G>C | CA341763862 | CASQ2 | c.219C>G (p.Ile73Met) c.495C>G (p.Ile165Met) | |
| 1 | g.115738261G= | CA1190729270 | CASQ2 | c.219C= (p.Ile73=) c.495C= (p.Ile165=) | |
| 1 | g.115738261G>T | CA419895489 | CASQ2 | c.219C>A (p.Ile73=) c.495C>A (p.Ile165=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738262A>C | CA341763863 | CASQ2 | c.218T>G (p.Ile73Ser) c.494T>G (p.Ile165Ser) | |
| 1 | g.115738262A>G | CA341763864 | CASQ2 | c.218T>C (p.Ile73Thr) c.494T>C (p.Ile165Thr) | |
| 1 | g.115738262A>T | CA341763865 | CASQ2 | c.218T>A (p.Ile73Asn) c.494T>A (p.Ile165Asn) | |
| 1 | g.115738263T>A | CA341763866 | CASQ2 | c.217A>T (p.Ile73Phe) c.493A>T (p.Ile165Phe) | |
| 1 | g.115738263T>C | CA341763867 | CASQ2 | c.217A>G (p.Ile73Val) c.493A>G (p.Ile165Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115738263T>G | CA341763868 | CASQ2 | c.217A>C (p.Ile73Leu) c.493A>C (p.Ile165Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738263T= | CA1190729271 | CASQ2 | c.217A= (p.Ile73=) c.493A= (p.Ile165=) | |
| 1 | g.115738264G>A | CA10586707 | CASQ2 | c.216C>T (p.Tyr72=) c.492C>T (p.Tyr164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738264G>C | CA341763869 | CASQ2 | c.216C>G (p.Tyr72Ter) c.492C>G (p.Tyr164Ter) | |
| 1 | g.115738264G= | CA1190729272 | CASQ2 | c.216C= (p.Tyr72=) c.492C= (p.Tyr164=) | |
| 1 | g.115738264G>T | CA341763870 | CASQ2 | c.216C>A (p.Tyr72Ter) c.492C>A (p.Tyr164Ter) | |
| 1 | g.115738265T>A | CA341763871 | CASQ2 | c.215A>T (p.Tyr72Phe) c.491A>T (p.Tyr164Phe) | |
| 1 | g.115738265T>C | CA1023895 | CASQ2 | c.215A>G (p.Tyr72Cys) c.491A>G (p.Tyr164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738265T>G | CA341763872 | CASQ2 | c.215A>C (p.Tyr72Ser) c.491A>C (p.Tyr164Ser) | |
| 1 | g.115738265T= | CA1140803106 | CASQ2 | c.215A= (p.Tyr72=) c.491A= (p.Tyr164=) | |
| 1 | g.115738266A= | CA1190729273 | CASQ2 | c.214T= (p.Tyr72=) c.490T= (p.Tyr164=) | |
| 1 | g.115738266A>C | CA341763873 | CASQ2 | c.214T>G (p.Tyr72Asp) c.490T>G (p.Tyr164Asp) | |
| 1 | g.115738266A>G | CA341763875 | CASQ2 | c.214T>C (p.Tyr72His) c.490T>C (p.Tyr164His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115738266A>T | CA341763874 | CASQ2 | c.214T>A (p.Tyr72Asn) c.490T>A (p.Tyr164Asn) | |
| 1 | g.115738267G>A | CA419895490 | CASQ2 | c.213C>T (p.Asp71=) c.489C>T (p.Asp163=) | |
| 1 | g.115738267G>C | CA341763876 | CASQ2 | c.213C>G (p.Asp71Glu) c.489C>G (p.Asp163Glu) | |
| 1 | g.115738267G>T | CA341763877 | CASQ2 | c.213C>A (p.Asp71Glu) c.489C>A (p.Asp163Glu) | |
| 1 | g.115738268T>A | CA1023896 | CASQ2 | c.212A>T (p.Asp71Val) c.488A>T (p.Asp163Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115738268T>C | CA341763878 | CASQ2 | c.212A>G (p.Asp71Gly) c.488A>G (p.Asp163Gly) | |
| 1 | g.115738268T>G | CA341763879 | CASQ2 | c.212A>C (p.Asp71Ala) c.488A>C (p.Asp163Ala) | |
| 1 | g.115738268T= | CA1190729274 | CASQ2 | c.212A= (p.Asp71=) c.488A= (p.Asp163=) | |
| 1 | g.115738269C>A | CA341763880 | CASQ2 | c.211G>T (p.Asp71Tyr) c.487G>T (p.Asp163Tyr) | |
| 1 | g.115738269C>G | CA341763881 | CASQ2 | c.211G>C (p.Asp71His) c.487G>C (p.Asp163His) | COSMIC |
| 1 | g.115738269C>T | CA341763882 | CASQ2 | c.211G>A (p.Asp71Asn) c.487G>A (p.Asp163Asn) | ClinVar |
| 1 | g.115738270T>A | CA341763883 | CASQ2 | c.210A>T (p.Glu70Asp) c.486A>T (p.Glu162Asp) | |
| 1 | g.115738270T>C | CA419895491 | CASQ2 | c.210A>G (p.Glu70=) c.486A>G (p.Glu162=) | dbSNP |
| 1 | g.115738270T>G | CA341763884 | CASQ2 | c.210A>C (p.Glu70Asp) c.486A>C (p.Glu162Asp) | |
| 1 | g.115738271T>A | CA341763887 | CASQ2 | c.209A>T (p.Glu70Val) c.485A>T (p.Glu162Val) | |
| 1 | g.115738271T>C | CA341763886 | CASQ2 | c.209A>G (p.Glu70Gly) c.485A>G (p.Glu162Gly) | |
| 1 | g.115738271T>G | CA341763885 | CASQ2 | c.209A>C (p.Glu70Ala) c.485A>C (p.Glu162Ala) | |
| 1 | g.115738272C>A | CA341763889 | CASQ2 | c.208G>T (p.Glu70Ter) c.484G>T (p.Glu162Ter) | |
| 1 | g.115738272C>G | CA341763888 | CASQ2 | c.208G>C (p.Glu70Gln) c.484G>C (p.Glu162Gln) | |
| 1 | g.115738272C>T | CA341763890 | CASQ2 | c.208G>A (p.Glu70Lys) c.484G>A (p.Glu162Lys) | gnomAD v4 |
| 1 | g.115738273A>C | CA341763891 | CASQ2 | c.207T>G (p.Ile69Met) c.483T>G (p.Ile161Met) | |
| 1 | g.115738273A>G | CA419895492 | CASQ2 | c.207T>C (p.Ile69=) c.483T>C (p.Ile161=) | |
| 1 | g.115738273A>T | CA419895493 | CASQ2 | c.207T>A (p.Ile69=) c.483T>A (p.Ile161=) | |
| 1 | g.115738274A= | CA1142412014 | CASQ2 | c.206T= (p.Ile69=) c.482T= (p.Ile161=) | |
| 1 | g.115738274A>C | CA341763892 | CASQ2 | c.206T>G (p.Ile69Ser) c.482T>G (p.Ile161Ser) | |
| 1 | g.115738274A>G | CA1023897 | CASQ2 | c.206T>C (p.Ile69Thr) c.482T>C (p.Ile161Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738274A>T | CA341763893 | CASQ2 | c.206T>A (p.Ile69Asn) c.482T>A (p.Ile161Asn) | |
| 1 | g.115738275T>A | CA341763894 | CASQ2 | c.205A>T (p.Ile69Phe) c.481A>T (p.Ile161Phe) | |
| 1 | g.115738275T>C | CA133706 | CASQ2 | c.205A>G (p.Ile69Val) c.481A>G (p.Ile161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738275T>G | CA301891 | CASQ2 | c.205A>C (p.Ile69Leu) c.481A>C (p.Ile161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115738275T= | CA1142109115 | CASQ2 | c.205A= (p.Ile69=) c.481A= (p.Ile161=) | |
| 1 | g.115738276G>A | CA419895494 | CASQ2 | c.204C>T (p.Arg68=) c.480C>T (p.Arg160=) | |
| 1 | g.115738276G>C | CA419895495 | CASQ2 | c.204C>G (p.Arg68=) c.480C>G (p.Arg160=) | |
| 1 | g.115738276G>T | CA419895496 | CASQ2 | c.204C>A (p.Arg68=) c.480C>A (p.Arg160=) |