UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124397884T>A | CA2611307188 | OAT | c.*58A>T (n.*58A>T) | gnomAD v4 |
| 10 | g.124397884T>C | CA2611307189 | OAT | c.*58A>G (n.*58A>G) | gnomAD v4 |
| 10 | g.124397885A>C | CA2611307190 | OAT | c.*57T>G (n.*57T>G) | gnomAD v4 |
| 10 | g.124397886C>T | CA2574699184 | OAT | c.*56G>A (n.*56G>A) | gnomAD v4 |
| 10 | g.124397886_124397887delinsCA | CA1942335598 | OAT | c.*55_*56delinsTG (n.*55_*56delinsTG) | |
| 10 | g.124397887del | CA215241283 | OAT | c.*55del (n.*55del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397887A>G | CA2574699186 | OAT | c.*55T>C (n.*55T>C) | |
| 10 | g.124397888G>A | CA215241291 | OAT | c.*54C>T (n.*54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397888G= | CA1942335599 | OAT | c.*54C= (n.*54C=) | |
| 10 | g.124397889G>A | CA661079668 | OAT | c.*53C>T (n.*53C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397889G= | CA1942335600 | OAT | c.*53C= (n.*53C=) | |
| 10 | g.124397890A>G | CA2611307191 | OAT | c.*52T>C (n.*52T>C) | gnomAD v4 |
| 10 | g.124397891C= | CA1942335601 | OAT | c.*51G= (n.*51G=) | |
| 10 | g.124397891C>T | CA5733263 | OAT | c.*51G>A (n.*51G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124397892C= | CA1942335602 | OAT | c.*50G= (n.*50G=) | |
| 10 | g.124397892C>G | CA215241309 | OAT | c.*50G>C (n.*50G>C) | dbSNP |
| 10 | g.124397893A= | CA1942335603 | OAT | c.*49T= (n.*49T=) | |
| 10 | g.124397893A>G | CA933464572 | OAT | c.*49T>C (n.*49T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397894C>A | CA2574699187 | OAT | c.*48G>T (n.*48G>T) | |
| 10 | g.124397894C= | CA1942335604 | OAT | c.*48G= (n.*48G=) | |
| 10 | g.124397894C>T | CA215241324 | OAT | c.*48G>A (n.*48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397895C>A | CA596580027 | OAT | c.*47G>T (n.*47G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124397895C= | CA1942335605 | OAT | c.*47G= (n.*47G=) | |
| 10 | g.124397896T>C | CA1942335607 | OAT | c.*46A>G (n.*46A>G) | dbSNP gnomAD v4 |
| 10 | g.124397896T= | CA1942335606 | OAT | c.*46A= (n.*46A=) | |
| 10 | g.124397897G>A | CA5733264 | OAT | c.*45C>T (n.*45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397897G= | CA1942335608 | OAT | c.*45C= (n.*45C=) | |
| 10 | g.124397898T>C | CA2611307192 | OAT | c.*44A>G (n.*44A>G) | gnomAD v4 |
| 10 | g.124397899dup | CA653637518 | OAT | c.*43dup (n.*43dup) | COSMIC |
| 10 | g.124397904G>A | CA215241340 | OAT | c.*38C>T (n.*38C>T) | dbSNP |
| 10 | g.124397904G= | CA1942335609 | OAT | c.*38C= (n.*38C=) | |
| 10 | g.124397904G>T | CA2611307193 | OAT | c.*38C>A (n.*38C>A) | gnomAD v4 |
| 10 | g.124397906T>C | CA2574699189 | OAT | c.*36A>G (n.*36A>G) | |
| 10 | g.124397907G>A | CA5733265 | OAT | c.*35C>T (n.*35C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397907G= | CA1942335610 | OAT | c.*35C= (n.*35C=) | |
| 10 | g.124397909C= | CA1942335611 | OAT | c.*33G= (n.*33G=) | |
| 10 | g.124397909C>T | CA215241377 | OAT | c.*33G>A (n.*33G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397911C= | CA1942335612 | OAT | c.*31G= (n.*31G=) | |
| 10 | g.124397911C>T | CA661079682 | OAT | c.*31G>A (n.*31G>A) | dbSNP gnomAD v4 |
| 10 | g.124397913C= | CA1942335613 | OAT | c.*29G= (n.*29G=) | |
| 10 | g.124397913C>G | CA933464585 | OAT | c.*29G>C (n.*29G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.124397913C>T | CA2611307194 | OAT | c.*29G>A (n.*29G>A) | gnomAD v4 |
| 10 | g.124397914A= | CA1942335614 | OAT | c.*28T= (n.*28T=) | |
| 10 | g.124397914A>G | CA215241388 | OAT | c.*28T>C (n.*28T>C) | dbSNP gnomAD v4 |
| 10 | g.124397916G>A | CA2611307195 | OAT | c.*26C>T (n.*26C>T) | gnomAD v4 |
| 10 | g.124397917G>T | CA2611307196 | OAT | c.*25C>A (n.*25C>A) | gnomAD v4 |
| 10 | g.124397918A= | CA1942335615 | OAT | c.*24T= (n.*24T=) | |
| 10 | g.124397918A>G | CA661079689 | OAT | c.*24T>C (n.*24T>C) | dbSNP |
| 10 | g.124397920C>A | CA5733266 | OAT | c.*22G>T (n.*22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397920C= | CA1942335616 | OAT | c.*22G= (n.*22G=) | |
| 10 | g.124397920C>G | CA2611307197 | OAT | c.*22G>C (n.*22G>C) | gnomAD v4 |
| 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=) |