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 |
|---|---|---|---|---|---|
| 10 | g.124397921A= | CA1942335617 | OAT | c.*21T= (n.*21T=) | |
| 10 | g.124397921A>C | CA5733267 | OAT | c.*21T>G (n.*21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397921A>G | CA661079693 | OAT | c.*21T>C (n.*21T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397922C= | CA1942335618 | OAT | c.*20G= (n.*20G=) | |
| 10 | g.124397922C>G | CA215241418 | OAT | c.*20G>C (n.*20G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397925_124397934del | CA2611307198 | OAT | c.*11_*20del (n.*11_*20del) | gnomAD v4 |
| 10 | g.124397924_124397925delinsGA | CA1942335619 | OAT | c.*17_*18delinsTC (n.*17_*18delinsTC) | |
| 10 | g.124397928del | CA933464602 | OAT | c.*17del (n.*17del) | dbSNP gnomAD v4 |
| 10 | g.124397929C= | CA1942335620 | OAT | c.*13G= (n.*13G=) | |
| 10 | g.124397929C>T | CA5733268 | OAT | c.*13G>A (n.*13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397930A>G | CA2611307199 | OAT | c.*12T>C (n.*12T>C) | gnomAD v4 |
| 10 | g.124397931G>A | CA1942335622 | OAT | c.*11C>T (n.*11C>T) | dbSNP |
| 10 | g.124397931G= | CA1942335621 | OAT | c.*11C= (n.*11C=) | |
| 10 | g.124397933T>C | CA5733269 | OAT | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397933T= | CA1942335623 | OAT | c.*9A= (n.*9A=) | |
| 10 | g.124397934G>A | CA2611307200 | OAT | c.*8C>T (n.*8C>T) | gnomAD v4 |
| 10 | g.124397934G>C | CA2611307201 | OAT | c.*8C>G (n.*8C>G) | gnomAD v4 |
| 10 | g.124397934G= | CA1942335624 | OAT | c.*8C= (n.*8C=) | |
| 10 | g.124397934G>T | CA596580028 | OAT | c.*8C>A (n.*8C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397937T>C | CA596580029 | OAT | c.*5A>G (n.*5A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397937T= | CA1942335625 | OAT | c.*5A= (n.*5A=) | |
| 10 | g.124397938A>G | CA2611307202 | OAT | c.*4T>C (n.*4T>C) | gnomAD v4 |
| 10 | g.124397939C>A | CA5733270 | OAT | c.*3G>T (n.*3G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397939C= | CA1942335626 | OAT | c.*3G= (n.*3G=) | |
| 10 | g.124397939C>T | CA1942335627 | OAT | c.*3G>A (n.*3G>A) | dbSNP |
| 10 | g.124397940C= | CA1942335628 | OAT | c.*2G= (n.*2G=) | |
| 10 | g.124397940C>T | CA661079700 | OAT | c.*2G>A (n.*2G>A) | dbSNP |
| 10 | g.124397942T>A | CA378632952 | OAT | c.1320A>T (p.Ter440Cys) c.906A>T (p.Ter302Cys) c.999A>T (p.Ter333Cys) c.720A>T (p.Ter240Cys) | |
| 10 | g.124397942T>C | CA378632950 | OAT | c.1320A>G (p.Ter440Trp) c.906A>G (p.Ter302Trp) c.999A>G (p.Ter333Trp) c.720A>G (p.Ter240Trp) | ClinVar dbSNP |
| 10 | g.124397942T>G | CA378632951 | OAT | c.1320A>C (p.Ter440Cys) c.906A>C (p.Ter302Cys) c.999A>C (p.Ter333Cys) c.720A>C (p.Ter240Cys) | |
| 10 | g.124397943C>A | CA378632953 | OAT | c.1319G>T (p.Ter440Leu) c.905G>T (p.Ter302Leu) c.998G>T (p.Ter333Leu) c.719G>T (p.Ter240Leu) | |
| 10 | g.124397943C>G | CA378632954 | OAT | c.1319G>C (p.Ter440Ser) c.905G>C (p.Ter302Ser) c.998G>C (p.Ter333Ser) c.719G>C (p.Ter240Ser) | |
| 10 | g.124397943C>T | CA471762479 | OAT | c.1319G>A (p.Ter440=) c.905G>A (p.Ter302=) c.998G>A (p.Ter333=) c.719G>A (p.Ter240=) | |
| 10 | g.124397944A= | CA1942335629 | OAT | c.1318T= (p.Ter440=) c.904T= (p.Ter302=) c.997T= (p.Ter333=) c.718T= (p.Ter240=) | |
| 10 | g.124397944A>C | CA378632955 | OAT | c.1318T>G (p.Ter440Gly) c.904T>G (p.Ter302Gly) c.997T>G (p.Ter333Gly) c.718T>G (p.Ter240Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397944A>G | CA378632956 | OAT | c.1318T>C (p.Ter440Arg) c.904T>C (p.Ter302Arg) c.997T>C (p.Ter333Arg) c.718T>C (p.Ter240Arg) | |
| 10 | g.124397944A>T | CA378632957 | OAT | c.1318T>A (p.Ter440Arg) c.904T>A (p.Ter302Arg) c.997T>A (p.Ter333Arg) c.718T>A (p.Ter240Arg) | |
| 10 | g.124397945G>A | CA471762480 | OAT | c.1317C>T (p.Phe439=) c.903C>T (p.Phe301=) c.996C>T (p.Phe332=) c.717C>T (p.Phe239=) | gnomAD v4 |
| 10 | g.124397945G>C | CA378632958 | OAT | c.1317C>G (p.Phe439Leu) c.903C>G (p.Phe301Leu) c.996C>G (p.Phe332Leu) c.717C>G (p.Phe239Leu) | |
| 10 | g.124397945G>T | CA378632959 | OAT | c.1317C>A (p.Phe439Leu) c.903C>A (p.Phe301Leu) c.996C>A (p.Phe332Leu) c.717C>A (p.Phe239Leu) | |
| 10 | g.124397946A>C | CA378632960 | OAT | c.1316T>G (p.Phe439Cys) c.902T>G (p.Phe301Cys) c.995T>G (p.Phe332Cys) c.716T>G (p.Phe239Cys) | |
| 10 | g.124397946A>G | CA378632961 | OAT | c.1316T>C (p.Phe439Ser) c.902T>C (p.Phe301Ser) c.995T>C (p.Phe332Ser) c.716T>C (p.Phe239Ser) | |
| 10 | g.124397946A>T | CA378632962 | OAT | c.1316T>A (p.Phe439Tyr) c.902T>A (p.Phe301Tyr) c.995T>A (p.Phe332Tyr) c.716T>A (p.Phe239Tyr) | |
| 10 | g.124397947A>C | CA378632964 | OAT | c.1315T>G (p.Phe439Val) c.901T>G (p.Phe301Val) c.994T>G (p.Phe332Val) c.715T>G (p.Phe239Val) | |
| 10 | g.124397947A>G | CA378632965 | OAT | c.1315T>C (p.Phe439Leu) c.901T>C (p.Phe301Leu) c.994T>C (p.Phe332Leu) c.715T>C (p.Phe239Leu) | |
| 10 | g.124397947A>T | CA378632963 | OAT | c.1315T>A (p.Phe439Ile) c.901T>A (p.Phe301Ile) c.994T>A (p.Phe332Ile) c.715T>A (p.Phe239Ile) | |
| 10 | g.124397948A= | CA1942335630 | OAT | c.1314T= (p.Ser438=) c.900T= (p.Ser300=) c.993T= (p.Ser331=) c.714T= (p.Ser238=) | |
| 10 | g.124397948A>C | CA471762481 | OAT | c.1314T>G (p.Ser438=) c.900T>G (p.Ser300=) c.993T>G (p.Ser331=) c.714T>G (p.Ser238=) | |
| 10 | g.124397948A>G | CA471762482 | OAT | c.1314T>C (p.Ser438=) c.900T>C (p.Ser300=) c.993T>C (p.Ser331=) c.714T>C (p.Ser238=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397948A>T | CA471762483 | OAT | c.1314T>A (p.Ser438=) c.900T>A (p.Ser300=) c.993T>A (p.Ser331=) c.714T>A (p.Ser238=) | |
| 10 | g.124397949G>A | CA378632966 | OAT | c.1313C>T (p.Ser438Phe) c.899C>T (p.Ser300Phe) c.992C>T (p.Ser331Phe) c.713C>T (p.Ser238Phe) | gnomAD v4 |
| 10 | g.124397949G>C | CA378632967 | OAT | c.1313C>G (p.Ser438Cys) c.899C>G (p.Ser300Cys) c.992C>G (p.Ser331Cys) c.713C>G (p.Ser238Cys) | |
| 10 | g.124397949G>T | CA378632968 | OAT | c.1313C>A (p.Ser438Tyr) c.899C>A (p.Ser300Tyr) c.992C>A (p.Ser331Tyr) c.713C>A (p.Ser238Tyr) | |
| 10 | g.124397950A>C | CA378632969 | OAT | c.1312T>G (p.Ser438Ala) c.898T>G (p.Ser300Ala) c.991T>G (p.Ser331Ala) c.712T>G (p.Ser238Ala) | |
| 10 | g.124397950A>G | CA378632970 | OAT | c.1312T>C (p.Ser438Pro) c.898T>C (p.Ser300Pro) c.991T>C (p.Ser331Pro) c.712T>C (p.Ser238Pro) | |
| 10 | g.124397950A>T | CA378632971 | OAT | c.1312T>A (p.Ser438Thr) c.898T>A (p.Ser300Thr) c.991T>A (p.Ser331Thr) c.712T>A (p.Ser238Thr) | ClinVar |
| 10 | g.124397951C>A | CA144141 | OAT | c.1311G>T (p.Leu437Phe) c.897G>T (p.Leu299Phe) c.990G>T (p.Leu330Phe) c.711G>T (p.Leu237Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397951C= | CA1942335631 | OAT | c.1311G= (p.Leu437=) c.897G= (p.Leu299=) c.990G= (p.Leu330=) c.711G= (p.Leu237=) | |
| 10 | g.124397951C>G | CA113946 | OAT | c.1311G>C (p.Leu437Phe) c.897G>C (p.Leu299Phe) c.990G>C (p.Leu330Phe) c.711G>C (p.Leu237Phe) | ClinVar dbSNP |
| 10 | g.124397951C>T | CA5733271 | OAT | c.1311G>A (p.Leu437=) c.897G>A (p.Leu299=) c.990G>A (p.Leu330=) c.711G>A (p.Leu237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397952A>C | CA378632972 | OAT | c.1310T>G (p.Leu437Trp) c.896T>G (p.Leu299Trp) c.989T>G (p.Leu330Trp) c.710T>G (p.Leu237Trp) | gnomAD v4 |
| 10 | g.124397952A>G | CA378632973 | OAT | c.1310T>C (p.Leu437Ser) c.896T>C (p.Leu299Ser) c.989T>C (p.Leu330Ser) c.710T>C (p.Leu237Ser) | |
| 10 | g.124397952A>T | CA378632974 | OAT | c.1310T>A (p.Leu437Ter) c.896T>A (p.Leu299Ter) c.989T>A (p.Leu330Ter) c.710T>A (p.Leu237Ter) | |
| 10 | g.124397953A>C | CA378632975 | OAT | c.1309T>G (p.Leu437Val) c.895T>G (p.Leu299Val) c.988T>G (p.Leu330Val) c.709T>G (p.Leu237Val) | |
| 10 | g.124397953A>G | CA471762485 | OAT | c.1309T>C (p.Leu437=) c.895T>C (p.Leu299=) c.988T>C (p.Leu330=) c.709T>C (p.Leu237=) | ClinVar |
| 10 | g.124397953A>T | CA378632976 | OAT | c.1309T>A (p.Leu437Met) c.895T>A (p.Leu299Met) c.988T>A (p.Leu330Met) c.709T>A (p.Leu237Met) | |
| 10 | g.124397954G>A | CA471762486 | OAT | c.1308C>T (p.Ile436=) c.894C>T (p.Ile298=) c.987C>T (p.Ile329=) c.708C>T (p.Ile236=) | |
| 10 | g.124397954G>C | CA378632977 | OAT | c.1308C>G (p.Ile436Met) c.894C>G (p.Ile298Met) c.987C>G (p.Ile329Met) c.708C>G (p.Ile236Met) | |
| 10 | g.124397954G>T | CA471762487 | OAT | c.1308C>A (p.Ile436=) c.894C>A (p.Ile298=) c.987C>A (p.Ile329=) c.708C>A (p.Ile236=) | |
| 10 | g.124397955A= | CA1942335632 | OAT | c.1307T= (p.Ile436=) c.893T= (p.Ile298=) c.986T= (p.Ile329=) c.707T= (p.Ile236=) | |
| 10 | g.124397955A>C | CA378632979 | OAT | c.1307T>G (p.Ile436Ser) c.893T>G (p.Ile298Ser) c.986T>G (p.Ile329Ser) c.707T>G (p.Ile236Ser) | |
| 10 | g.124397955A>G | CA378632978 | OAT | c.1307T>C (p.Ile436Thr) c.893T>C (p.Ile298Thr) c.986T>C (p.Ile329Thr) c.707T>C (p.Ile236Thr) | |
| 10 | g.124397955A>T | CA144139 | OAT | c.1307T>A (p.Ile436Asn) c.893T>A (p.Ile298Asn) c.986T>A (p.Ile329Asn) c.707T>A (p.Ile236Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397956T>A | CA378632980 | OAT | c.1306A>T (p.Ile436Phe) c.892A>T (p.Ile298Phe) c.985A>T (p.Ile329Phe) c.706A>T (p.Ile236Phe) | |
| 10 | g.124397956T>C | CA5733272 | OAT | c.1306A>G (p.Ile436Val) c.892A>G (p.Ile298Val) c.985A>G (p.Ile329Val) c.706A>G (p.Ile236Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397956T>G | CA378632981 | OAT | c.1306A>C (p.Ile436Leu) c.892A>C (p.Ile298Leu) c.985A>C (p.Ile329Leu) c.706A>C (p.Ile236Leu) | |
| 10 | g.124397956T= | CA1942335633 | OAT | c.1306A= (p.Ile436=) c.892A= (p.Ile298=) c.985A= (p.Ile329=) c.706A= (p.Ile236=) | |
| 10 | g.124397957G>A | CA5733273 | OAT | c.1305C>T (p.Thr435=) c.891C>T (p.Thr297=) c.984C>T (p.Thr328=) c.705C>T (p.Thr235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124397957G>C | CA471762488 | OAT | c.1305C>G (p.Thr435=) c.891C>G (p.Thr297=) c.984C>G (p.Thr328=) c.705C>G (p.Thr235=) | |
| 10 | g.124397957G= | CA1942335634 | OAT | c.1305C= (p.Thr435=) c.891C= (p.Thr297=) c.984C= (p.Thr328=) c.705C= (p.Thr235=) | |
| 10 | g.124397957G>T | CA471762489 | OAT | c.1305C>A (p.Thr435=) c.891C>A (p.Thr297=) c.984C>A (p.Thr328=) c.705C>A (p.Thr235=) | ClinVar dbSNP |
| 10 | g.124397958G>A | CA378632982 | OAT | c.1304C>T (p.Thr435Ile) c.890C>T (p.Thr297Ile) c.983C>T (p.Thr328Ile) c.704C>T (p.Thr235Ile) | |
| 10 | g.124397958G>C | CA378632983 | OAT | c.1304C>G (p.Thr435Ser) c.890C>G (p.Thr297Ser) c.983C>G (p.Thr328Ser) c.704C>G (p.Thr235Ser) | |
| 10 | g.124397958G= | CA1942335635 | OAT | c.1304C= (p.Thr435=) c.890C= (p.Thr297=) c.983C= (p.Thr328=) c.704C= (p.Thr235=) | |
| 10 | g.124397958G>T | CA378632984 | OAT | c.1304C>A (p.Thr435Asn) c.890C>A (p.Thr297Asn) c.983C>A (p.Thr328Asn) c.704C>A (p.Thr235Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397959T>A | CA378632985 | OAT | c.1303A>T (p.Thr435Ser) c.889A>T (p.Thr297Ser) c.982A>T (p.Thr328Ser) c.703A>T (p.Thr235Ser) | |
| 10 | g.124397959T>C | CA378632986 | OAT | c.1303A>G (p.Thr435Ala) c.889A>G (p.Thr297Ala) c.982A>G (p.Thr328Ala) c.703A>G (p.Thr235Ala) | |
| 10 | g.124397959T>G | CA378632987 | OAT | c.1303A>C (p.Thr435Pro) c.889A>C (p.Thr297Pro) c.982A>C (p.Thr328Pro) c.703A>C (p.Thr235Pro) | |
| 10 | g.124397960C>A | CA378632988 | OAT | c.1302G>T (p.Lys434Asn) c.888G>T (p.Lys296Asn) c.981G>T (p.Lys327Asn) c.702G>T (p.Lys234Asn) | gnomAD v4 |
| 10 | g.124397960C= | CA1942335636 | OAT | c.1302G= (p.Lys434=) c.888G= (p.Lys296=) c.981G= (p.Lys327=) c.702G= (p.Lys234=) | |
| 10 | g.124397960C>G | CA378632989 | OAT | c.1302G>C (p.Lys434Asn) c.888G>C (p.Lys296Asn) c.981G>C (p.Lys327Asn) c.702G>C (p.Lys234Asn) | |
| 10 | g.124397960C>T | CA471762490 | OAT | c.1302G>A (p.Lys434=) c.888G>A (p.Lys296=) c.981G>A (p.Lys327=) c.702G>A (p.Lys234=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397961T>A | CA378632992 | OAT | c.1301A>T (p.Lys434Met) c.887A>T (p.Lys296Met) c.980A>T (p.Lys327Met) c.701A>T (p.Lys234Met) | |
| 10 | g.124397961T>C | CA378632990 | OAT | c.1301A>G (p.Lys434Arg) c.887A>G (p.Lys296Arg) c.980A>G (p.Lys327Arg) c.701A>G (p.Lys234Arg) | gnomAD v4 |
| 10 | g.124397961T>G | CA378632991 | OAT | c.1301A>C (p.Lys434Thr) c.887A>C (p.Lys296Thr) c.980A>C (p.Lys327Thr) c.701A>C (p.Lys234Thr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124397962T>A | CA378632993 | OAT | c.1300A>T (p.Lys434Ter) c.886A>T (p.Lys296Ter) c.979A>T (p.Lys327Ter) c.700A>T (p.Lys234Ter) | |
| 10 | g.124397962T>C | CA5733274 | OAT | c.1300A>G (p.Lys434Glu) c.886A>G (p.Lys296Glu) c.979A>G (p.Lys327Glu) c.700A>G (p.Lys234Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397962T>G | CA378632994 | OAT | c.1300A>C (p.Lys434Gln) c.886A>C (p.Lys296Gln) c.979A>C (p.Lys327Gln) c.700A>C (p.Lys234Gln) | |
| 10 | g.124397962T= | CA1942335637 | OAT | c.1300A= (p.Lys434=) c.886A= (p.Lys296=) c.979A= (p.Lys327=) c.700A= (p.Lys234=) | |
| 10 | g.124397963G>A | CA471762491 | OAT | c.1299C>T (p.Asn433=) c.885C>T (p.Asn295=) c.978C>T (p.Asn326=) c.699C>T (p.Asn233=) | ClinVar gnomAD v4 |
| 10 | g.124397963G>C | CA378632995 | OAT | c.1299C>G (p.Asn433Lys) c.885C>G (p.Asn295Lys) c.978C>G (p.Asn326Lys) c.699C>G (p.Asn233Lys) | |
| 10 | g.124397963G>T | CA378632996 | OAT | c.1299C>A (p.Asn433Lys) c.885C>A (p.Asn295Lys) c.978C>A (p.Asn326Lys) c.699C>A (p.Asn233Lys) | |
| 10 | g.124397964T>A | CA378632997 | OAT | c.1298A>T (p.Asn433Ile) c.884A>T (p.Asn295Ile) c.977A>T (p.Asn326Ile) c.698A>T (p.Asn233Ile) | |
| 10 | g.124397964T>C | CA378632998 | OAT | c.1298A>G (p.Asn433Ser) c.884A>G (p.Asn295Ser) c.977A>G (p.Asn326Ser) c.698A>G (p.Asn233Ser) | gnomAD v4 |
| 10 | g.124397964T>G | CA378632999 | OAT | c.1298A>C (p.Asn433Thr) c.884A>C (p.Asn295Thr) c.977A>C (p.Asn326Thr) c.698A>C (p.Asn233Thr) | |
| 10 | g.124397965T>A | CA378633000 | OAT | c.1297A>T (p.Asn433Tyr) c.883A>T (p.Asn295Tyr) c.976A>T (p.Asn326Tyr) c.697A>T (p.Asn233Tyr) | |
| 10 | g.124397965T>C | CA378633001 | OAT | c.1297A>G (p.Asn433Asp) c.883A>G (p.Asn295Asp) c.976A>G (p.Asn326Asp) c.697A>G (p.Asn233Asp) | |
| 10 | g.124397965T>G | CA378633002 | OAT | c.1297A>C (p.Asn433His) c.883A>C (p.Asn295His) c.976A>C (p.Asn326His) c.697A>C (p.Asn233His) | |
| 10 | g.124397966A>C | CA378633003 | OAT | c.1296T>G (p.Ile432Met) c.882T>G (p.Ile294Met) c.975T>G (p.Ile325Met) c.696T>G (p.Ile232Met) | |
| 10 | g.124397966A>G | CA471762493 | OAT | c.1296T>C (p.Ile432=) c.882T>C (p.Ile294=) c.975T>C (p.Ile325=) c.696T>C (p.Ile232=) | |
| 10 | g.124397966A>T | CA471762492 | OAT | c.1296T>A (p.Ile432=) c.882T>A (p.Ile294=) c.975T>A (p.Ile325=) c.696T>A (p.Ile232=) | |
| 10 | g.124397967A= | CA1942335638 | OAT | c.1295T= (p.Ile432=) c.881T= (p.Ile294=) c.974T= (p.Ile325=) c.695T= (p.Ile232=) | |
| 10 | g.124397967A>C | CA378633005 | OAT | c.1295T>G (p.Ile432Ser) c.881T>G (p.Ile294Ser) c.974T>G (p.Ile325Ser) c.695T>G (p.Ile232Ser) | |
| 10 | g.124397967A>G | CA378633006 | OAT | c.1295T>C (p.Ile432Thr) c.881T>C (p.Ile294Thr) c.974T>C (p.Ile325Thr) c.695T>C (p.Ile232Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397967A>T | CA378633004 | OAT | c.1295T>A (p.Ile432Asn) c.881T>A (p.Ile294Asn) c.974T>A (p.Ile325Asn) c.695T>A (p.Ile232Asn) | |
| 10 | g.124397968T>A | CA378633007 | OAT | c.1294A>T (p.Ile432Phe) c.880A>T (p.Ile294Phe) c.973A>T (p.Ile325Phe) c.694A>T (p.Ile232Phe) | ClinVar |
| 10 | g.124397968T>C | CA378633008 | OAT | c.1294A>G (p.Ile432Val) c.880A>G (p.Ile294Val) c.973A>G (p.Ile325Val) c.694A>G (p.Ile232Val) | |
| 10 | g.124397968T>G | CA378633009 | OAT | c.1294A>C (p.Ile432Leu) c.880A>C (p.Ile294Leu) c.973A>C (p.Ile325Leu) c.694A>C (p.Ile232Leu) | |
| 10 | g.124397969A>C | CA378633010 | OAT | c.1293T>G (p.Ile431Met) c.879T>G (p.Ile293Met) c.972T>G (p.Ile324Met) c.693T>G (p.Ile231Met) | |
| 10 | g.124397969A>G | CA471762494 | OAT | c.1293T>C (p.Ile431=) c.879T>C (p.Ile293=) c.972T>C (p.Ile324=) c.693T>C (p.Ile231=) | |
| 10 | g.124397969A>T | CA471762495 | OAT | c.1293T>A (p.Ile431=) c.879T>A (p.Ile293=) c.972T>A (p.Ile324=) c.693T>A (p.Ile231=) | ClinVar dbSNP |
| 10 | g.124397970A>C | CA378633011 | OAT | c.1292T>G (p.Ile431Ser) c.878T>G (p.Ile293Ser) c.971T>G (p.Ile324Ser) c.692T>G (p.Ile231Ser) | |
| 10 | g.124397970A>G | CA378633012 | OAT | c.1292T>C (p.Ile431Thr) c.878T>C (p.Ile293Thr) c.971T>C (p.Ile324Thr) c.692T>C (p.Ile231Thr) | |
| 10 | g.124397970A>T | CA378633013 | OAT | c.1292T>A (p.Ile431Asn) c.878T>A (p.Ile293Asn) c.971T>A (p.Ile324Asn) c.692T>A (p.Ile231Asn) | |
| 10 | g.124397971T>A | CA378633014 | OAT | c.1291A>T (p.Ile431Phe) c.877A>T (p.Ile293Phe) c.970A>T (p.Ile324Phe) c.691A>T (p.Ile231Phe) | |
| 10 | g.124397971T>C | CA5733275 | OAT | c.1291A>G (p.Ile431Val) c.877A>G (p.Ile293Val) c.970A>G (p.Ile324Val) c.691A>G (p.Ile231Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397971T>G | CA378633015 | OAT | c.1291A>C (p.Ile431Leu) c.877A>C (p.Ile293Leu) c.970A>C (p.Ile324Leu) c.691A>C (p.Ile231Leu) | |
| 10 | g.124397971T= | CA1942335639 | OAT | c.1291A= (p.Ile431=) c.877A= (p.Ile293=) c.970A= (p.Ile324=) c.691A= (p.Ile231=) | |
| 10 | g.124397972T>A | CA378633016 | OAT | c.1290A>T (p.Glu430Asp) c.876A>T (p.Glu292Asp) c.969A>T (p.Glu323Asp) c.690A>T (p.Glu230Asp) | |
| 10 | g.124397972T>C | CA471762496 | OAT | c.1290A>G (p.Glu430=) c.876A>G (p.Glu292=) c.969A>G (p.Glu323=) c.690A>G (p.Glu230=) | |
| 10 | g.124397972T>G | CA378633017 | OAT | c.1290A>C (p.Glu430Asp) c.876A>C (p.Glu292Asp) c.969A>C (p.Glu323Asp) c.690A>C (p.Glu230Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397972T= | CA1942335640 | OAT | c.1290A= (p.Glu430=) c.876A= (p.Glu292=) c.969A= (p.Glu323=) c.690A= (p.Glu230=) | |
| 10 | g.124397973T>A | CA5733276 | OAT | c.1289A>T (p.Glu430Val) c.875A>T (p.Glu292Val) c.968A>T (p.Glu323Val) c.689A>T (p.Glu230Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397973T>C | CA378633019 | OAT | c.1289A>G (p.Glu430Gly) c.875A>G (p.Glu292Gly) c.968A>G (p.Glu323Gly) c.689A>G (p.Glu230Gly) | |
| 10 | g.124397973T>G | CA378633018 | OAT | c.1289A>C (p.Glu430Ala) c.875A>C (p.Glu292Ala) c.968A>C (p.Glu323Ala) c.689A>C (p.Glu230Ala) | dbSNP gnomAD v4 |
| 10 | g.124397973T= | CA1942335641 | OAT | c.1289A= (p.Glu430=) c.875A= (p.Glu292=) c.968A= (p.Glu323=) c.689A= (p.Glu230=) | |
| 10 | g.124397974C>A | CA378633020 | OAT | c.1288G>T (p.Glu430Ter) c.874G>T (p.Glu292Ter) c.967G>T (p.Glu323Ter) c.688G>T (p.Glu230Ter) | |
| 10 | g.124397974C>G | CA378633021 | OAT | c.1288G>C (p.Glu430Gln) c.874G>C (p.Glu292Gln) c.967G>C (p.Glu323Gln) c.688G>C (p.Glu230Gln) | |
| 10 | g.124397974C>T | CA378633022 | OAT | c.1288G>A (p.Glu430Lys) c.874G>A (p.Glu292Lys) c.967G>A (p.Glu323Lys) c.688G>A (p.Glu230Lys) | |
| 10 | g.124397975A= | CA1942335642 | OAT | c.1287T= (p.Ile429=) c.873T= (p.Ile291=) c.966T= (p.Ile322=) c.687T= (p.Ile229=) | |
| 10 | g.124397975A>C | CA378633023 | OAT | c.1287T>G (p.Ile429Met) c.873T>G (p.Ile291Met) c.966T>G (p.Ile322Met) c.687T>G (p.Ile229Met) | |
| 10 | g.124397975A>G | CA471762497 | OAT | c.1287T>C (p.Ile429=) c.873T>C (p.Ile291=) c.966T>C (p.Ile322=) c.687T>C (p.Ile229=) | dbSNP |
| 10 | g.124397975A>T | CA471762498 | OAT | c.1287T>A (p.Ile429=) c.873T>A (p.Ile291=) c.966T>A (p.Ile322=) c.687T>A (p.Ile229=) | |
| 10 | g.124397976A= | CA1942335643 | OAT | c.1286T= (p.Ile429=) c.872T= (p.Ile291=) c.965T= (p.Ile322=) c.686T= (p.Ile229=) | |
| 10 | g.124397976A>C | CA378633024 | OAT | c.1286T>G (p.Ile429Ser) c.872T>G (p.Ile291Ser) c.965T>G (p.Ile322Ser) c.686T>G (p.Ile229Ser) | |
| 10 | g.124397976A>G | CA5733277 | OAT | c.1286T>C (p.Ile429Thr) c.872T>C (p.Ile291Thr) c.965T>C (p.Ile322Thr) c.686T>C (p.Ile229Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397976A>T | CA378633025 | OAT | c.1286T>A (p.Ile429Asn) c.872T>A (p.Ile291Asn) c.965T>A (p.Ile322Asn) c.686T>A (p.Ile229Asn) | |
| 10 | g.124397977T>A | CA378633026 | OAT | c.1285A>T (p.Ile429Phe) c.871A>T (p.Ile291Phe) c.964A>T (p.Ile322Phe) c.685A>T (p.Ile229Phe) | gnomAD v4 |
| 10 | g.124397977T>C | CA378633028 | OAT | c.1285A>G (p.Ile429Val) c.871A>G (p.Ile291Val) c.964A>G (p.Ile322Val) c.685A>G (p.Ile229Val) | ClinVar gnomAD v4 |
| 10 | g.124397977T>G | CA378633027 | OAT | c.1285A>C (p.Ile429Leu) c.871A>C (p.Ile291Leu) c.964A>C (p.Ile322Leu) c.685A>C (p.Ile229Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397977T= | CA1942335644 | OAT | c.1285A= (p.Ile429=) c.871A= (p.Ile291=) c.964A= (p.Ile322=) c.685A= (p.Ile229=) | |
| 10 | g.124397978G>A | CA5733278 | OAT | c.1284C>T (p.Ser428=) c.870C>T (p.Ser290=) c.963C>T (p.Ser321=) c.684C>T (p.Ser228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397978G>C | CA471762499 | OAT | c.1284C>G (p.Ser428=) c.870C>G (p.Ser290=) c.963C>G (p.Ser321=) c.684C>G (p.Ser228=) | ClinVar |
| 10 | g.124397978G= | CA1942335645 | OAT | c.1284C= (p.Ser428=) c.870C= (p.Ser290=) c.963C= (p.Ser321=) c.684C= (p.Ser228=) | |
| 10 | g.124397978G>T | CA471762500 | OAT | c.1284C>A (p.Ser428=) c.870C>A (p.Ser290=) c.963C>A (p.Ser321=) c.684C>A (p.Ser228=) | |
| 10 | g.124397979dup | CA2611307203 | OAT | c.1284dup (p.Ile429HisfsTer2) c.870dup (p.Ile291HisfsTer2) c.963dup (p.Ile322HisfsTer2) c.684dup (p.Ile229HisfsTer2) | gnomAD v4 |
| 10 | g.124397979G>A | CA378633029 | OAT | c.1283C>T (p.Ser428Phe) c.869C>T (p.Ser290Phe) c.962C>T (p.Ser321Phe) c.683C>T (p.Ser228Phe) | |
| 10 | g.124397979G>C | CA378633030 | OAT | c.1283C>G (p.Ser428Cys) c.869C>G (p.Ser290Cys) c.962C>G (p.Ser321Cys) c.683C>G (p.Ser228Cys) | |
| 10 | g.124397979G>T | CA378633031 | OAT | c.1283C>A (p.Ser428Tyr) c.869C>A (p.Ser290Tyr) c.962C>A (p.Ser321Tyr) c.683C>A (p.Ser228Tyr) | |
| 10 | g.124397980A>C | CA378633032 | OAT | c.1282T>G (p.Ser428Ala) c.868T>G (p.Ser290Ala) c.961T>G (p.Ser321Ala) c.682T>G (p.Ser228Ala) | |
| 10 | g.124397980A>G | CA378633034 | OAT | c.1282T>C (p.Ser428Pro) c.868T>C (p.Ser290Pro) c.961T>C (p.Ser321Pro) c.682T>C (p.Ser228Pro) | |
| 10 | g.124397980A>T | CA378633033 | OAT | c.1282T>A (p.Ser428Thr) c.868T>A (p.Ser290Thr) c.961T>A (p.Ser321Thr) c.682T>A (p.Ser228Thr) | gnomAD v4 |
| 10 | g.124397981C>A | CA378633035 | OAT | c.1281G>T (p.Glu427Asp) c.867G>T (p.Glu289Asp) c.960G>T (p.Glu320Asp) c.681G>T (p.Glu227Asp) | |
| 10 | g.124397981C= | CA1942335646 | OAT | c.1281G= (p.Glu427=) c.867G= (p.Glu289=) c.960G= (p.Glu320=) c.681G= (p.Glu227=) | |
| 10 | g.124397981C>G | CA378633036 | OAT | c.1281G>C (p.Glu427Asp) c.867G>C (p.Glu289Asp) c.960G>C (p.Glu320Asp) c.681G>C (p.Glu227Asp) | |
| 10 | g.124397981C>T | CA471762501 | OAT | c.1281G>A (p.Glu427=) c.867G>A (p.Glu289=) c.960G>A (p.Glu320=) c.681G>A (p.Glu227=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124397982T>A | CA378633037 | OAT | c.1280A>T (p.Glu427Val) c.866A>T (p.Glu289Val) c.959A>T (p.Glu320Val) c.680A>T (p.Glu227Val) | |
| 10 | g.124397982T>C | CA378633039 | OAT | c.1280A>G (p.Glu427Gly) c.866A>G (p.Glu289Gly) c.959A>G (p.Glu320Gly) c.680A>G (p.Glu227Gly) | |
| 10 | g.124397982T>G | CA378633038 | OAT | c.1280A>C (p.Glu427Ala) c.866A>C (p.Glu289Ala) c.959A>C (p.Glu320Ala) c.680A>C (p.Glu227Ala) | gnomAD v4 |
| 10 | g.124397983C>A | CA378633040 | OAT | c.1279G>T (p.Glu427Ter) c.865G>T (p.Glu289Ter) c.958G>T (p.Glu320Ter) c.679G>T (p.Glu227Ter) | |
| 10 | g.124397983C= | CA1942335647 | OAT | c.1279G= (p.Glu427=) c.865G= (p.Glu289=) c.958G= (p.Glu320=) c.679G= (p.Glu227=) | |
| 10 | g.124397983C>G | CA378633041 | OAT | c.1279G>C (p.Glu427Gln) c.865G>C (p.Glu289Gln) c.958G>C (p.Glu320Gln) c.679G>C (p.Glu227Gln) | |
| 10 | g.124397983C>T | CA215241498 | OAT | c.1279G>A (p.Glu427Lys) c.865G>A (p.Glu289Lys) c.958G>A (p.Glu320Lys) c.679G>A (p.Glu227Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397984T>A | CA471762502 | OAT | c.1278A>T (p.Arg426=) c.864A>T (p.Arg288=) c.957A>T (p.Arg319=) c.678A>T (p.Arg226=) | |
| 10 | g.124397984T>C | CA471762503 | OAT | c.1278A>G (p.Arg426=) c.864A>G (p.Arg288=) c.957A>G (p.Arg319=) c.678A>G (p.Arg226=) | |
| 10 | g.124397984T>G | CA471762504 | OAT | c.1278A>C (p.Arg426=) c.864A>C (p.Arg288=) c.957A>C (p.Arg319=) c.678A>C (p.Arg226=) | |
| 10 | g.124397985C>A | CA378633042 | OAT | c.1277G>T (p.Arg426Leu) c.863G>T (p.Arg288Leu) c.956G>T (p.Arg319Leu) c.677G>T (p.Arg226Leu) | |
| 10 | g.124397985C= | CA1942335648 | OAT | c.1277G= (p.Arg426=) c.863G= (p.Arg288=) c.956G= (p.Arg319=) c.677G= (p.Arg226=) | |
| 10 | g.124397985C>G | CA378633043 | OAT | c.1277G>C (p.Arg426Pro) c.863G>C (p.Arg288Pro) c.956G>C (p.Arg319Pro) c.677G>C (p.Arg226Pro) | gnomAD v4 |
| 10 | g.124397985C>T | CA5733279 | OAT | c.1277G>A (p.Arg426Gln) c.863G>A (p.Arg288Gln) c.956G>A (p.Arg319Gln) c.677G>A (p.Arg226Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397986G>A | CA114002 | OAT | c.1276C>T (p.Arg426Ter) c.862C>T (p.Arg288Ter) c.955C>T (p.Arg319Ter) c.676C>T (p.Arg226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397986G>C | CA378633044 | OAT | c.1276C>G (p.Arg426Gly) c.862C>G (p.Arg288Gly) c.955C>G (p.Arg319Gly) c.676C>G (p.Arg226Gly) | |
| 10 | g.124397986G= | CA1942335649 | OAT | c.1276C= (p.Arg426=) c.862C= (p.Arg288=) c.955C= (p.Arg319=) c.676C= (p.Arg226=) | |
| 10 | g.124397986G>T | CA471762505 | OAT | c.1276C>A (p.Arg426=) c.862C>A (p.Arg288=) c.955C>A (p.Arg319=) c.676C>A (p.Arg226=) | ClinVar |
| 10 | g.124397987A= | CA1942335650 | OAT | c.1275T= (p.Leu425=) c.861T= (p.Leu287=) c.954T= (p.Leu318=) c.675T= (p.Leu225=) | |
| 10 | g.124397987A>C | CA471762506 | OAT | c.1275T>G (p.Leu425=) c.861T>G (p.Leu287=) c.954T>G (p.Leu318=) c.675T>G (p.Leu225=) | |
| 10 | g.124397987A>G | CA471762507 | OAT | c.1275T>C (p.Leu425=) c.861T>C (p.Leu287=) c.954T>C (p.Leu318=) c.675T>C (p.Leu225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397987A>T | CA471762508 | OAT | c.1275T>A (p.Leu425=) c.861T>A (p.Leu287=) c.954T>A (p.Leu318=) c.675T>A (p.Leu225=) | |
| 10 | g.124397988A>C | CA378633045 | OAT | c.1274T>G (p.Leu425Arg) c.860T>G (p.Leu287Arg) c.953T>G (p.Leu318Arg) c.674T>G (p.Leu225Arg) | |
| 10 | g.124397988A>G | CA378633046 | OAT | c.1274T>C (p.Leu425Pro) c.860T>C (p.Leu287Pro) c.953T>C (p.Leu318Pro) c.674T>C (p.Leu225Pro) | |
| 10 | g.124397988A>T | CA378633047 | OAT | c.1274T>A (p.Leu425His) c.860T>A (p.Leu287His) c.953T>A (p.Leu318His) c.674T>A (p.Leu225His) | |
| 10 | g.124397989G>A | CA5733280 | OAT | c.1273C>T (p.Leu425Phe) c.859C>T (p.Leu287Phe) c.952C>T (p.Leu318Phe) c.673C>T (p.Leu225Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397989G>C | CA378633048 | OAT | c.1273C>G (p.Leu425Val) c.859C>G (p.Leu287Val) c.952C>G (p.Leu318Val) c.673C>G (p.Leu225Val) | |
| 10 | g.124397989G= | CA1942335651 | OAT | c.1273C= (p.Leu425=) c.859C= (p.Leu287=) c.952C= (p.Leu318=) c.673C= (p.Leu225=) | |
| 10 | g.124397989G>T | CA378633049 | OAT | c.1273C>A (p.Leu425Ile) c.859C>A (p.Leu287Ile) c.952C>A (p.Leu318Ile) c.673C>A (p.Leu225Ile) | |
| 10 | g.124397990C>A | CA378633050 | OAT | c.1272G>T (p.Glu424Asp) c.858G>T (p.Glu286Asp) c.951G>T (p.Glu317Asp) c.672G>T (p.Glu224Asp) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124397990C= | CA1942335652 | OAT | c.1272G= (p.Glu424=) c.858G= (p.Glu286=) c.951G= (p.Glu317=) c.672G= (p.Glu224=) | |
| 10 | g.124397990C>G | CA378633051 | OAT | c.1272G>C (p.Glu424Asp) c.858G>C (p.Glu286Asp) c.951G>C (p.Glu317Asp) c.672G>C (p.Glu224Asp) | gnomAD v4 |
| 10 | g.124397990C>T | CA471762509 | OAT | c.1272G>A (p.Glu424=) c.858G>A (p.Glu286=) c.951G>A (p.Glu317=) c.672G>A (p.Glu224=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397991T>A | CA378633052 | OAT | c.1271A>T (p.Glu424Val) c.857A>T (p.Glu286Val) c.950A>T (p.Glu317Val) c.671A>T (p.Glu224Val) | |
| 10 | g.124397991T>C | CA378633053 | OAT | c.1271A>G (p.Glu424Gly) c.857A>G (p.Glu286Gly) c.950A>G (p.Glu317Gly) c.671A>G (p.Glu224Gly) | |
| 10 | g.124397991T>G | CA378633054 | OAT | c.1271A>C (p.Glu424Ala) c.857A>C (p.Glu286Ala) c.950A>C (p.Glu317Ala) c.671A>C (p.Glu224Ala) | |
| 10 | g.124397992C>A | CA378633055 | OAT | c.1270G>T (p.Glu424Ter) c.856G>T (p.Glu286Ter) c.949G>T (p.Glu317Ter) c.670G>T (p.Glu224Ter) | |
| 10 | g.124397992C>G | CA378633056 | OAT | c.1270G>C (p.Glu424Gln) c.856G>C (p.Glu286Gln) c.949G>C (p.Glu317Gln) c.670G>C (p.Glu224Gln) | |
| 10 | g.124397992C>T | CA378633057 | OAT | c.1270G>A (p.Glu424Lys) c.856G>A (p.Glu286Lys) c.949G>A (p.Glu317Lys) c.670G>A (p.Glu224Lys) | |
| 10 | g.124397993A>C | CA378633058 | OAT | c.1269T>G (p.Asp423Glu) c.855T>G (p.Asp285Glu) c.948T>G (p.Asp316Glu) c.669T>G (p.Asp223Glu) | gnomAD v4 |
| 10 | g.124397993A>G | CA471762510 | OAT | c.1269T>C (p.Asp423=) c.855T>C (p.Asp285=) c.948T>C (p.Asp316=) c.669T>C (p.Asp223=) | gnomAD v4 |
| 10 | g.124397993A>T | CA378633059 | OAT | c.1269T>A (p.Asp423Glu) c.855T>A (p.Asp285Glu) c.948T>A (p.Asp316Glu) c.669T>A (p.Asp223Glu) | |
| 10 | g.124397994T>A | CA378633062 | OAT | c.1268A>T (p.Asp423Val) c.854A>T (p.Asp285Val) c.947A>T (p.Asp316Val) c.668A>T (p.Asp223Val) | |
| 10 | g.124397994T>C | CA378633061 | OAT | c.1268A>G (p.Asp423Gly) c.854A>G (p.Asp285Gly) c.947A>G (p.Asp316Gly) c.668A>G (p.Asp223Gly) | |
| 10 | g.124397994T>G | CA378633060 | OAT | c.1268A>C (p.Asp423Ala) c.854A>C (p.Asp285Ala) c.947A>C (p.Asp316Ala) c.668A>C (p.Asp223Ala) | |
| 10 | g.124397995C>A | CA378633063 | OAT | c.1267G>T (p.Asp423Tyr) c.853G>T (p.Asp285Tyr) c.946G>T (p.Asp316Tyr) c.667G>T (p.Asp223Tyr) | |
| 10 | g.124397995C>G | CA378633064 | OAT | c.1267G>C (p.Asp423His) c.853G>C (p.Asp285His) c.946G>C (p.Asp316His) c.667G>C (p.Asp223His) | |
| 10 | g.124397995C>T | CA378633065 | OAT | c.1267G>A (p.Asp423Asn) c.853G>A (p.Asp285Asn) c.946G>A (p.Asp316Asn) c.667G>A (p.Asp223Asn) | |
| 10 | g.124397996C>A | CA378633066 | OAT | c.1266G>T (p.Glu422Asp) c.852G>T (p.Glu284Asp) c.945G>T (p.Glu315Asp) c.666G>T (p.Glu222Asp) | |
| 10 | g.124397996C>G | CA378633067 | OAT | c.1266G>C (p.Glu422Asp) c.852G>C (p.Glu284Asp) c.945G>C (p.Glu315Asp) c.666G>C (p.Glu222Asp) | |
| 10 | g.124397996C>T | CA471762511 | OAT | c.1266G>A (p.Glu422=) c.852G>A (p.Glu284=) c.945G>A (p.Glu315=) c.666G>A (p.Glu222=) | gnomAD v4 COSMIC |
| 10 | g.124397997T>A | CA378633068 | OAT | c.1265A>T (p.Glu422Val) c.851A>T (p.Glu284Val) c.944A>T (p.Glu315Val) c.665A>T (p.Glu222Val) | |
| 10 | g.124397997T>C | CA378633069 | OAT | c.1265A>G (p.Glu422Gly) c.851A>G (p.Glu284Gly) c.944A>G (p.Glu315Gly) c.665A>G (p.Glu222Gly) | gnomAD v4 |
| 10 | g.124397997T>G | CA378633070 | OAT | c.1265A>C (p.Glu422Ala) c.851A>C (p.Glu284Ala) c.944A>C (p.Glu315Ala) c.665A>C (p.Glu222Ala) | |
| 10 | g.124397998C>A | CA378633071 | OAT | c.1264G>T (p.Glu422Ter) c.850G>T (p.Glu284Ter) c.943G>T (p.Glu315Ter) c.664G>T (p.Glu222Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397998C= | CA1942335653 | OAT | c.1264G= (p.Glu422=) c.850G= (p.Glu284=) c.943G= (p.Glu315=) c.664G= (p.Glu222=) | |
| 10 | g.124397998C>G | CA378633072 | OAT | c.1264G>C (p.Glu422Gln) c.850G>C (p.Glu284Gln) c.943G>C (p.Glu315Gln) c.664G>C (p.Glu222Gln) | |
| 10 | g.124397998C>T | CA378633073 | OAT | c.1264G>A (p.Glu422Lys) c.850G>A (p.Glu284Lys) c.943G>A (p.Glu315Lys) c.664G>A (p.Glu222Lys) | dbSNP gnomAD v4 |
| 10 | g.124397999C>A | CA378633074 | OAT | c.1263G>T (p.Lys421Asn) c.849G>T (p.Lys283Asn) c.942G>T (p.Lys314Asn) c.663G>T (p.Lys221Asn) | |
| 10 | g.124397999C>G | CA378633075 | OAT | c.1263G>C (p.Lys421Asn) c.849G>C (p.Lys283Asn) c.942G>C (p.Lys314Asn) c.663G>C (p.Lys221Asn) | |
| 10 | g.124397999C>T | CA471762512 | OAT | c.1263G>A (p.Lys421=) c.849G>A (p.Lys283=) c.942G>A (p.Lys314=) c.663G>A (p.Lys221=) | |
| 10 | g.124398000T>A | CA378633076 | OAT | c.1262A>T (p.Lys421Met) c.848A>T (p.Lys283Met) c.941A>T (p.Lys314Met) c.662A>T (p.Lys221Met) | |
| 10 | g.124398000T>C | CA378633078 | OAT | c.1262A>G (p.Lys421Arg) c.848A>G (p.Lys283Arg) c.941A>G (p.Lys314Arg) c.662A>G (p.Lys221Arg) | dbSNP |
| 10 | g.124398000T>G | CA378633077 | OAT | c.1262A>C (p.Lys421Thr) c.848A>C (p.Lys283Thr) c.941A>C (p.Lys314Thr) c.662A>C (p.Lys221Thr) | |
| 10 | g.124398001T>A | CA378633079 | OAT | c.1261A>T (p.Lys421Ter) c.847A>T (p.Lys283Ter) c.940A>T (p.Lys314Ter) c.661A>T (p.Lys221Ter) | |
| 10 | g.124398001T>C | CA378633080 | OAT | c.1261A>G (p.Lys421Glu) c.847A>G (p.Lys283Glu) c.940A>G (p.Lys314Glu) c.661A>G (p.Lys221Glu) | ClinVar dbSNP |
| 10 | g.124398001T>G | CA378633081 | OAT | c.1261A>C (p.Lys421Gln) c.847A>C (p.Lys283Gln) c.940A>C (p.Lys314Gln) c.661A>C (p.Lys221Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124398001T= | CA1942335654 | OAT | c.1261A= (p.Lys421=) c.847A= (p.Lys283=) c.940A= (p.Lys314=) c.661A= (p.Lys221=) | |
| 10 | g.124398002G>A | CA471762514 | OAT | c.1260C>T (p.Ile420=) c.846C>T (p.Ile282=) c.939C>T (p.Ile313=) c.660C>T (p.Ile220=) | |
| 10 | g.124398002G>C | CA378633082 | OAT | c.1260C>G (p.Ile420Met) c.846C>G (p.Ile282Met) c.939C>G (p.Ile313Met) c.660C>G (p.Ile220Met) | |
| 10 | g.124398002G>T | CA471762513 | OAT | c.1260C>A (p.Ile420=) c.846C>A (p.Ile282=) c.939C>A (p.Ile313=) c.660C>A (p.Ile220=) | |
| 10 | g.124398003_124398010dup | CA2499220189 | OAT | c.1253_1260dup (p.Lys421TrpfsTer2) c.839_846dup (p.Lys283TrpfsTer2) c.932_939dup (p.Lys314TrpfsTer2) c.653_660dup (p.Lys221TrpfsTer2) | ClinVar dbSNP |
| 10 | g.124398003A>C | CA378633083 | OAT | c.1259T>G (p.Ile420Ser) c.845T>G (p.Ile282Ser) c.938T>G (p.Ile313Ser) c.659T>G (p.Ile220Ser) | |
| 10 | g.124398003A>G | CA378633084 | OAT | c.1259T>C (p.Ile420Thr) c.845T>C (p.Ile282Thr) c.938T>C (p.Ile313Thr) c.659T>C (p.Ile220Thr) | |
| 10 | g.124398003A>T | CA378633085 | OAT | c.1259T>A (p.Ile420Asn) c.845T>A (p.Ile282Asn) c.938T>A (p.Ile313Asn) c.659T>A (p.Ile220Asn) | |
| 10 | g.124398004T>A | CA378633086 | OAT | c.1258A>T (p.Ile420Phe) c.844A>T (p.Ile282Phe) c.937A>T (p.Ile313Phe) c.658A>T (p.Ile220Phe) | |
| 10 | g.124398004T>C | CA378633087 | OAT | c.1258A>G (p.Ile420Val) c.844A>G (p.Ile282Val) c.937A>G (p.Ile313Val) c.658A>G (p.Ile220Val) | |
| 10 | g.124398004T>G | CA378633088 | OAT | c.1258A>C (p.Ile420Leu) c.844A>C (p.Ile282Leu) c.937A>C (p.Ile313Leu) c.658A>C (p.Ile220Leu) | |
| 10 | g.124398005C>A | CA215241524 | OAT | c.1257G>T (p.Val419=) c.843G>T (p.Val281=) c.936G>T (p.Val312=) c.657G>T (p.Val219=) | dbSNP |
| 10 | g.124398005C= | CA1942335655 | OAT | c.1257G= (p.Val419=) c.843G= (p.Val281=) c.936G= (p.Val312=) c.657G= (p.Val219=) | |
| 10 | g.124398005C>G | CA471762515 | OAT | c.1257G>C (p.Val419=) c.843G>C (p.Val281=) c.936G>C (p.Val312=) c.657G>C (p.Val219=) | |
| 10 | g.124398005C>T | CA471762516 | OAT | c.1257G>A (p.Val419=) c.843G>A (p.Val281=) c.936G>A (p.Val312=) c.657G>A (p.Val219=) | |
| 10 | g.124398006A>C | CA378633090 | OAT | c.1256T>G (p.Val419Gly) c.842T>G (p.Val281Gly) c.935T>G (p.Val312Gly) c.656T>G (p.Val219Gly) | |
| 10 | g.124398006A>G | CA378633091 | OAT | c.1256T>C (p.Val419Ala) c.842T>C (p.Val281Ala) c.935T>C (p.Val312Ala) c.656T>C (p.Val219Ala) | |
| 10 | g.124398006A>T | CA378633089 | OAT | c.1256T>A (p.Val419Glu) c.842T>A (p.Val281Glu) c.935T>A (p.Val312Glu) c.656T>A (p.Val219Glu) | |
| 10 | g.124398007C>A | CA378633093 | OAT | c.1255G>T (p.Val419Leu) c.841G>T (p.Val281Leu) c.934G>T (p.Val312Leu) c.655G>T (p.Val219Leu) | dbSNP |
| 10 | g.124398007C= | CA1942335656 | OAT | c.1255G= (p.Val419=) c.841G= (p.Val281=) c.934G= (p.Val312=) c.655G= (p.Val219=) | |
| 10 | g.124398007C>G | CA5733281 | OAT | c.1255G>C (p.Val419Leu) c.841G>C (p.Val281Leu) c.934G>C (p.Val312Leu) c.655G>C (p.Val219Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398007C>T | CA378633092 | OAT | c.1255G>A (p.Val419Met) c.841G>A (p.Val281Met) c.934G>A (p.Val312Met) c.655G>A (p.Val219Met) | gnomAD v4 |
| 10 | g.124398008C>A | CA471762518 | OAT | c.1254G>T (p.Leu418=) c.840G>T (p.Leu280=) c.933G>T (p.Leu311=) c.654G>T (p.Leu218=) | |
| 10 | g.124398008C= | CA1942335657 | OAT | c.1254G= (p.Leu418=) c.840G= (p.Leu280=) c.933G= (p.Leu311=) c.654G= (p.Leu218=) | |
| 10 | g.124398008C>G | CA471762517 | OAT | c.1254G>C (p.Leu418=) c.840G>C (p.Leu280=) c.933G>C (p.Leu311=) c.654G>C (p.Leu218=) | |
| 10 | g.124398008C>T | CA5733282 | OAT | c.1254G>A (p.Leu418=) c.840G>A (p.Leu280=) c.933G>A (p.Leu311=) c.654G>A (p.Leu218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398009A>C | CA378633094 | OAT | c.1253T>G (p.Leu418Arg) c.839T>G (p.Leu280Arg) c.932T>G (p.Leu311Arg) c.653T>G (p.Leu218Arg) | |
| 10 | g.124398009A>G | CA378633095 | OAT | c.1253T>C (p.Leu418Pro) c.839T>C (p.Leu280Pro) c.932T>C (p.Leu311Pro) c.653T>C (p.Leu218Pro) | |
| 10 | g.124398009A>T | CA378633096 | OAT | c.1253T>A (p.Leu418Gln) c.839T>A (p.Leu280Gln) c.932T>A (p.Leu311Gln) c.653T>A (p.Leu218Gln) | |
| 10 | g.124398010G>A | CA471762519 | OAT | c.1252C>T (p.Leu418=) c.838C>T (p.Leu280=) c.931C>T (p.Leu311=) c.652C>T (p.Leu218=) | ClinVar |
| 10 | g.124398010G>C | CA378633097 | OAT | c.1252C>G (p.Leu418Val) c.838C>G (p.Leu280Val) c.931C>G (p.Leu311Val) c.652C>G (p.Leu218Val) | |
| 10 | g.124398010G>T | CA378633098 | OAT | c.1252C>A (p.Leu418Met) c.838C>A (p.Leu280Met) c.931C>A (p.Leu311Met) c.652C>A (p.Leu218Met) | |
| 10 | g.124398011C>A | CA471762520 | OAT | c.1251G>T (p.Pro417=) c.837G>T (p.Pro279=) c.930G>T (p.Pro310=) c.651G>T (p.Pro217=) | gnomAD v4 |
| 10 | g.124398011C= | CA1942335658 | OAT | c.1251G= (p.Pro417=) c.837G= (p.Pro279=) c.930G= (p.Pro310=) c.651G= (p.Pro217=) | |
| 10 | g.124398011C>G | CA471762521 | OAT | c.1251G>C (p.Pro417=) c.837G>C (p.Pro279=) c.930G>C (p.Pro310=) c.651G>C (p.Pro217=) | |
| 10 | g.124398011C>T | CA5733283 | OAT | c.1251G>A (p.Pro417=) c.837G>A (p.Pro279=) c.930G>A (p.Pro310=) c.651G>A (p.Pro217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398012G>A | CA113943 | OAT | c.1250C>T (p.Pro417Leu) c.836C>T (p.Pro279Leu) c.929C>T (p.Pro310Leu) c.650C>T (p.Pro217Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124398012G>C | CA378633099 | OAT | c.1250C>G (p.Pro417Arg) c.836C>G (p.Pro279Arg) c.929C>G (p.Pro310Arg) c.650C>G (p.Pro217Arg) | |
| 10 | g.124398012G= | CA1942335659 | OAT | c.1250C= (p.Pro417=) c.836C= (p.Pro279=) c.929C= (p.Pro310=) c.650C= (p.Pro217=) | |
| 10 | g.124398012G>T | CA378633100 | OAT | c.1250C>A (p.Pro417Gln) c.836C>A (p.Pro279Gln) c.929C>A (p.Pro310Gln) c.650C>A (p.Pro217Gln) | gnomAD v4 COSMIC |
| 10 | g.124398013G>A | CA5733284 | OAT | c.1249C>T (p.Pro417Ser) c.835C>T (p.Pro279Ser) c.928C>T (p.Pro310Ser) c.649C>T (p.Pro217Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124398013G>C | CA378633102 | OAT | c.1249C>G (p.Pro417Ala) c.835C>G (p.Pro279Ala) c.928C>G (p.Pro310Ala) c.649C>G (p.Pro217Ala) | |
| 10 | g.124398013G= | CA1942335660 | OAT | c.1249C= (p.Pro417=) c.835C= (p.Pro279=) c.928C= (p.Pro310=) c.649C= (p.Pro217=) | |
| 10 | g.124398013G>T | CA378633101 | OAT | c.1249C>A (p.Pro417Thr) c.835C>A (p.Pro279Thr) c.928C>A (p.Pro310Thr) c.649C>A (p.Pro217Thr) | |
| 10 | g.124398014A>C | CA471762522 | OAT | c.1248T>G (p.Pro416=) c.834T>G (p.Pro278=) c.927T>G (p.Pro309=) c.648T>G (p.Pro216=) | |
| 10 | g.124398014A>G | CA471762523 | OAT | c.1248T>C (p.Pro416=) c.834T>C (p.Pro278=) c.927T>C (p.Pro309=) c.648T>C (p.Pro216=) | |
| 10 | g.124398014A>T | CA471762524 | OAT | c.1248T>A (p.Pro416=) c.834T>A (p.Pro278=) c.927T>A (p.Pro309=) c.648T>A (p.Pro216=) | |
| 10 | g.124398015G>A | CA378633103 | OAT | c.1247C>T (p.Pro416Leu) c.833C>T (p.Pro278Leu) c.926C>T (p.Pro309Leu) c.647C>T (p.Pro216Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124398015G>C | CA378633104 | OAT | c.1247C>G (p.Pro416Arg) c.833C>G (p.Pro278Arg) c.926C>G (p.Pro309Arg) c.647C>G (p.Pro216Arg) | |
| 10 | g.124398015G= | CA1942335661 | OAT | c.1247C= (p.Pro416=) c.833C= (p.Pro278=) c.926C= (p.Pro309=) c.647C= (p.Pro216=) | |
| 10 | g.124398015G>T | CA378633105 | OAT | c.1247C>A (p.Pro416His) c.833C>A (p.Pro278His) c.926C>A (p.Pro309His) c.647C>A (p.Pro216His) | |
| 10 | g.124398016G>A | CA378633106 | OAT | c.1246C>T (p.Pro416Ser) c.832C>T (p.Pro278Ser) c.925C>T (p.Pro309Ser) c.646C>T (p.Pro216Ser) | |
| 10 | g.124398016G>C | CA378633107 | OAT | c.1246C>G (p.Pro416Ala) c.832C>G (p.Pro278Ala) c.925C>G (p.Pro309Ala) c.646C>G (p.Pro216Ala) | |
| 10 | g.124398016G>T | CA378633108 | OAT | c.1246C>A (p.Pro416Thr) c.832C>A (p.Pro278Thr) c.925C>A (p.Pro309Thr) c.646C>A (p.Pro216Thr) | gnomAD v4 |
| 10 | g.124398017C>A | CA471762525 | OAT | c.1245G>T (p.Ala415=) c.831G>T (p.Ala277=) c.924G>T (p.Ala308=) c.645G>T (p.Ala215=) | |
| 10 | g.124398017C= | CA1942335662 | OAT | c.1245G= (p.Ala415=) c.831G= (p.Ala277=) c.924G= (p.Ala308=) c.645G= (p.Ala215=) | |
| 10 | g.124398017C>G | CA471762526 | OAT | c.1245G>C (p.Ala415=) c.831G>C (p.Ala277=) c.924G>C (p.Ala308=) c.645G>C (p.Ala215=) | |
| 10 | g.124398017C>T | CA5733285 | OAT | c.1245G>A (p.Ala415=) c.831G>A (p.Ala277=) c.924G>A (p.Ala308=) c.645G>A (p.Ala215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398018G>A | CA5733286 | OAT | c.1244C>T (p.Ala415Val) c.830C>T (p.Ala277Val) c.923C>T (p.Ala308Val) c.644C>T (p.Ala215Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124398018G>C | CA378633109 | OAT | c.1244C>G (p.Ala415Gly) c.830C>G (p.Ala277Gly) c.923C>G (p.Ala308Gly) c.644C>G (p.Ala215Gly) | |
| 10 | g.124398018G= | CA1942335663 | OAT | c.1244C= (p.Ala415=) c.830C= (p.Ala277=) c.923C= (p.Ala308=) c.644C= (p.Ala215=) | |
| 10 | g.124398018G>T | CA378633110 | OAT | c.1244C>A (p.Ala415Glu) c.830C>A (p.Ala277Glu) c.923C>A (p.Ala308Glu) c.644C>A (p.Ala215Glu) | |
| 10 | g.124398019C>A | CA378633111 | OAT | c.1243G>T (p.Ala415Ser) c.829G>T (p.Ala277Ser) c.922G>T (p.Ala308Ser) c.643G>T (p.Ala215Ser) | |
| 10 | g.124398019C= | CA1942335664 | OAT | c.1243G= (p.Ala415=) c.829G= (p.Ala277=) c.922G= (p.Ala308=) c.643G= (p.Ala215=) | |
| 10 | g.124398019C>G | CA378633112 | OAT | c.1243G>C (p.Ala415Pro) c.829G>C (p.Ala277Pro) c.922G>C (p.Ala308Pro) c.643G>C (p.Ala215Pro) | dbSNP |
| 10 | g.124398019C>T | CA378633113 | OAT | c.1243G>A (p.Ala415Thr) c.829G>A (p.Ala277Thr) c.922G>A (p.Ala308Thr) c.643G>A (p.Ala215Thr) | |
| 10 | g.124398020A>C | CA378633115 | OAT | c.1242T>G (p.Phe414Leu) c.828T>G (p.Phe276Leu) c.921T>G (p.Phe307Leu) c.642T>G (p.Phe214Leu) | |
| 10 | g.124398020A>G | CA471762527 | OAT | c.1242T>C (p.Phe414=) c.828T>C (p.Phe276=) c.921T>C (p.Phe307=) c.642T>C (p.Phe214=) | |
| 10 | g.124398020A>T | CA378633114 | OAT | c.1242T>A (p.Phe414Leu) c.828T>A (p.Phe276Leu) c.921T>A (p.Phe307Leu) c.642T>A (p.Phe214Leu) | |
| 10 | g.124398021A>C | CA378633116 | OAT | c.1241T>G (p.Phe414Cys) n.751T>G c.827T>G (p.Phe276Cys) c.920T>G (p.Phe307Cys) c.641T>G (p.Phe214Cys) | |
| 10 | g.124398021A>G | CA378633117 | OAT | c.1241T>C (p.Phe414Ser) n.751T>C c.827T>C (p.Phe276Ser) c.920T>C (p.Phe307Ser) c.641T>C (p.Phe214Ser) | |
| 10 | g.124398021A>T | CA378633118 | OAT | c.1241T>A (p.Phe414Tyr) n.751T>A c.827T>A (p.Phe276Tyr) c.920T>A (p.Phe307Tyr) c.641T>A (p.Phe214Tyr) |