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 |
|---|---|---|---|---|---|
| 1 | g.99884353A>C | CA341321080 | AGL | c.2448A>C (p.Lys816Asn) n.2659A>C c.2400A>C (p.Lys800Asn) c.2397A>C (p.Lys799Asn) c.708A>C (p.Lys236Asn) | |
| 1 | g.99884353A>G | CA419314275 | AGL | c.2448A>G (p.Lys816=) n.2659A>G c.2400A>G (p.Lys800=) c.2397A>G (p.Lys799=) c.708A>G (p.Lys236=) | |
| 1 | g.99884353A>T | CA341321081 | AGL | c.2448A>T (p.Lys816Asn) n.2659A>T c.2400A>T (p.Lys800Asn) c.2397A>T (p.Lys799Asn) c.708A>T (p.Lys236Asn) | |
| 1 | g.99884353_99884354insCACCAAACACACCCAACAC | CA2744755773 | AGL | c.2448_2449insCACCAAACACACCCAACAC (p.Ile817HisfsTer9) n.2659_2660insCACCAAACACACCCAACAC c.2400_2401insCACCAAACACACCCAACAC (p.Ile801HisfsTer9) c.2397_2398insCACCAAACACACCCAACAC (p.Ile800HisfsTer9) c.708_709insCACCAAACACACCCAACAC (p.Ile237HisfsTer9) | |
| 1 | g.99884354A= | CA1183930556 | AGL | c.2449A= (p.Ile817=) n.2660A= c.2401A= (p.Ile801=) c.2398A= (p.Ile800=) c.709A= (p.Ile237=) | |
| 1 | g.99884354A>C | CA341321083 | AGL | c.2449A>C (p.Ile817Leu) n.2660A>C c.2401A>C (p.Ile801Leu) c.2398A>C (p.Ile800Leu) c.709A>C (p.Ile237Leu) | |
| 1 | g.99884354A>G | CA27519107 | AGL | c.2449A>G (p.Ile817Val) n.2660A>G c.2401A>G (p.Ile801Val) c.2398A>G (p.Ile800Val) c.709A>G (p.Ile237Val) | dbSNP gnomAD v4 |
| 1 | g.99884354A>T | CA341321082 | AGL | c.2449A>T (p.Ile817Phe) n.2660A>T c.2401A>T (p.Ile801Phe) c.2398A>T (p.Ile800Phe) c.709A>T (p.Ile237Phe) | gnomAD v4 |
| 1 | g.99884354_99884355del | CA2564821407 | AGL | c.2449_2450del (p.Ile817CysfsTer2) n.2660_2661del c.2401_2402del (p.Ile801CysfsTer2) c.2398_2399del (p.Ile800CysfsTer2) c.709_710del (p.Ile237CysfsTer2) | |
| 1 | g.99884355T>A | CA341321084 | AGL | c.2450T>A (p.Ile817Asn) n.2661T>A c.2402T>A (p.Ile801Asn) c.2399T>A (p.Ile800Asn) c.710T>A (p.Ile237Asn) | |
| 1 | g.99884355T>C | CA341321086 | AGL | c.2450T>C (p.Ile817Thr) n.2661T>C c.2402T>C (p.Ile801Thr) c.2399T>C (p.Ile800Thr) c.710T>C (p.Ile237Thr) | |
| 1 | g.99884355T>G | CA341321085 | AGL | c.2450T>G (p.Ile817Ser) n.2661T>G c.2402T>G (p.Ile801Ser) c.2399T>G (p.Ile800Ser) c.710T>G (p.Ile237Ser) | |
| 1 | g.99884356T>A | CA419314276 | AGL | c.2451T>A (p.Ile817=) n.2662T>A c.2403T>A (p.Ile801=) c.2400T>A (p.Ile800=) c.711T>A (p.Ile237=) | |
| 1 | g.99884356T>C | CA419314277 | AGL | c.2451T>C (p.Ile817=) n.2662T>C c.2403T>C (p.Ile801=) c.2400T>C (p.Ile800=) c.711T>C (p.Ile237=) | ClinVar |
| 1 | g.99884356T>G | CA341321087 | AGL | c.2451T>G (p.Ile817Met) n.2662T>G c.2403T>G (p.Ile801Met) c.2400T>G (p.Ile800Met) c.711T>G (p.Ile237Met) | |
| 1 | g.99884357G>A | CA341321088 | AGL | c.2452G>A (p.Val818Ile) n.2663G>A c.2404G>A (p.Val802Ile) c.2401G>A (p.Val801Ile) c.712G>A (p.Val238Ile) | |
| 1 | g.99884357G>C | CA341321089 | AGL | c.2452G>C (p.Val818Leu) n.2663G>C c.2404G>C (p.Val802Leu) c.2401G>C (p.Val801Leu) c.712G>C (p.Val238Leu) | |
| 1 | g.99884357G>T | CA341321090 | AGL | c.2452G>T (p.Val818Phe) n.2663G>T c.2404G>T (p.Val802Phe) c.2401G>T (p.Val801Phe) c.712G>T (p.Val238Phe) | |
| 1 | g.99884358T>A | CA341321091 | AGL | c.2453T>A (p.Val818Asp) n.2664T>A c.2405T>A (p.Val802Asp) c.2402T>A (p.Val801Asp) c.713T>A (p.Val238Asp) | |
| 1 | g.99884358T>C | CA341321092 | AGL | c.2453T>C (p.Val818Ala) n.2664T>C c.2405T>C (p.Val802Ala) c.2402T>C (p.Val801Ala) c.713T>C (p.Val238Ala) | |
| 1 | g.99884358T>G | CA341321093 | AGL | c.2453T>G (p.Val818Gly) n.2664T>G c.2405T>G (p.Val802Gly) c.2402T>G (p.Val801Gly) c.713T>G (p.Val238Gly) | |
| 1 | g.99884359T>A | CA419314278 | AGL | c.2454T>A (p.Val818=) n.2665T>A c.2406T>A (p.Val802=) c.2403T>A (p.Val801=) c.714T>A (p.Val238=) | |
| 1 | g.99884359T>C | CA419314279 | AGL | c.2454T>C (p.Val818=) n.2665T>C c.2406T>C (p.Val802=) c.2403T>C (p.Val801=) c.714T>C (p.Val238=) | |
| 1 | g.99884359T>G | CA419314280 | AGL | c.2454T>G (p.Val818=) n.2665T>G c.2406T>G (p.Val802=) c.2403T>G (p.Val801=) c.714T>G (p.Val238=) | |
| 1 | g.99884359_99884363del | CA913046878 | AGL | c.2454_2458del (p.Lys819SerfsTer10) n.2665_2669del c.2406_2410del (p.Lys803SerfsTer10) c.2403_2407del (p.Lys802SerfsTer10) c.714_718del (p.Lys239SerfsTer10) | |
| 1 | g.99884359_99884363delinsTAAAC | CA1183930557 | AGL | c.2454_2458delinsTAAAC (p.Val818=) n.2665_2669delinsTAAAC c.2406_2410delinsTAAAC (p.Val802=) c.2403_2407delinsTAAAC (p.Val801=) c.714_718delinsTAAAC (p.Val238=) | |
| 1 | g.99884360A= | CA1183930558 | AGL | c.2455A= (p.Lys819=) n.2666A= c.2407A= (p.Lys803=) c.2404A= (p.Lys802=) c.715A= (p.Lys239=) | |
| 1 | g.99884360A>C | CA341321095 | AGL | c.2455A>C (p.Lys819Gln) n.2666A>C c.2407A>C (p.Lys803Gln) c.2404A>C (p.Lys802Gln) c.715A>C (p.Lys239Gln) | |
| 1 | g.99884360A>G | CA966797 | AGL | c.2455A>G (p.Lys819Glu) n.2666A>G c.2407A>G (p.Lys803Glu) c.2404A>G (p.Lys802Glu) c.715A>G (p.Lys239Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884360A>T | CA341321094 | AGL | c.2455A>T (p.Lys819Ter) n.2666A>T c.2407A>T (p.Lys803Ter) c.2404A>T (p.Lys802Ter) c.715A>T (p.Lys239Ter) | |
| 1 | g.99884362_99884365del | CA658821109 | AGL | c.2457_2460del (p.Gln820LeufsTer15) n.2668_2671del c.2409_2412del (p.Gln804LeufsTer15) c.2406_2409del (p.Gln803LeufsTer15) c.717_720del (p.Gln240LeufsTer15) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99884361A>C | CA341321096 | AGL | c.2456A>C (p.Lys819Thr) n.2667A>C c.2408A>C (p.Lys803Thr) c.2405A>C (p.Lys802Thr) c.716A>C (p.Lys239Thr) | |
| 1 | g.99884361A>G | CA341321097 | AGL | c.2456A>G (p.Lys819Arg) n.2667A>G c.2408A>G (p.Lys803Arg) c.2405A>G (p.Lys802Arg) c.716A>G (p.Lys239Arg) | |
| 1 | g.99884361A>T | CA341321098 | AGL | c.2456A>T (p.Lys819Ile) n.2667A>T c.2408A>T (p.Lys803Ile) c.2405A>T (p.Lys802Ile) c.716A>T (p.Lys239Ile) | |
| 1 | g.99884362A>C | CA341321099 | AGL | c.2457A>C (p.Lys819Asn) n.2668A>C c.2409A>C (p.Lys803Asn) c.2406A>C (p.Lys802Asn) c.717A>C (p.Lys239Asn) | |
| 1 | g.99884362A>G | CA419314281 | AGL | c.2457A>G (p.Lys819=) n.2668A>G c.2409A>G (p.Lys803=) c.2406A>G (p.Lys802=) c.717A>G (p.Lys239=) | gnomAD v4 |
| 1 | g.99884362A>T | CA341321100 | AGL | c.2457A>T (p.Lys819Asn) n.2668A>T c.2409A>T (p.Lys803Asn) c.2406A>T (p.Lys802Asn) c.717A>T (p.Lys239Asn) | |
| 1 | g.99884363C>A | CA341321101 | AGL | c.2458C>A (p.Gln820Lys) n.2669C>A c.2410C>A (p.Gln804Lys) c.2407C>A (p.Gln803Lys) c.718C>A (p.Gln240Lys) | |
| 1 | g.99884363C>G | CA341321103 | AGL | c.2458C>G (p.Gln820Glu) n.2669C>G c.2410C>G (p.Gln804Glu) c.2407C>G (p.Gln803Glu) c.718C>G (p.Gln240Glu) | gnomAD v4 |
| 1 | g.99884363C>T | CA341321102 | AGL | c.2458C>T (p.Gln820Ter) n.2669C>T c.2410C>T (p.Gln804Ter) c.2407C>T (p.Gln803Ter) c.718C>T (p.Gln240Ter) | ClinVar |
| 1 | g.99884364A>C | CA341321104 | AGL | c.2459A>C (p.Gln820Pro) n.2670A>C c.2411A>C (p.Gln804Pro) c.2408A>C (p.Gln803Pro) c.719A>C (p.Gln240Pro) | |
| 1 | g.99884364A>G | CA341321105 | AGL | c.2459A>G (p.Gln820Arg) n.2670A>G c.2411A>G (p.Gln804Arg) c.2408A>G (p.Gln803Arg) c.719A>G (p.Gln240Arg) | |
| 1 | g.99884364A>T | CA341321106 | AGL | c.2459A>T (p.Gln820Leu) n.2670A>T c.2411A>T (p.Gln804Leu) c.2408A>T (p.Gln803Leu) c.719A>T (p.Gln240Leu) | |
| 1 | g.99884365A>C | CA341321107 | AGL | c.2460A>C (p.Gln820His) n.2671A>C c.2412A>C (p.Gln804His) c.2409A>C (p.Gln803His) c.720A>C (p.Gln240His) | |
| 1 | g.99884365A>G | CA419314282 | AGL | c.2460A>G (p.Gln820=) n.2671A>G c.2412A>G (p.Gln804=) c.2409A>G (p.Gln803=) c.720A>G (p.Gln240=) | |
| 1 | g.99884365A>T | CA341321108 | AGL | c.2460A>T (p.Gln820His) n.2671A>T c.2412A>T (p.Gln804His) c.2409A>T (p.Gln803His) c.720A>T (p.Gln240His) | |
| 1 | g.99884365_99884366insAAGG | CA2646737229 | AGL | c.2460_2461insAAGG (p.Ala821LysfsTer11) n.2671_2672insAAGG c.2412_2413insAAGG (p.Ala805LysfsTer11) c.2409_2410insAAGG (p.Ala804LysfsTer11) c.720_721insAAGG (p.Ala241LysfsTer11) | gnomAD v4 |
| 1 | g.99884366G>A | CA341321109 | AGL | c.2461G>A (p.Ala821Thr) n.2672G>A c.2413G>A (p.Ala805Thr) c.2410G>A (p.Ala804Thr) c.721G>A (p.Ala241Thr) | |
| 1 | g.99884366G>C | CA341321110 | AGL | c.2461G>C (p.Ala821Pro) n.2672G>C c.2413G>C (p.Ala805Pro) c.2410G>C (p.Ala804Pro) c.721G>C (p.Ala241Pro) | |
| 1 | g.99884366G>T | CA341321111 | AGL | c.2461G>T (p.Ala821Ser) n.2672G>T c.2413G>T (p.Ala805Ser) c.2410G>T (p.Ala804Ser) c.721G>T (p.Ala241Ser) | |
| 1 | g.99884367C>A | CA341321112 | AGL | c.2462C>A (p.Ala821Asp) n.2673C>A c.2414C>A (p.Ala805Asp) c.2411C>A (p.Ala804Asp) c.722C>A (p.Ala241Asp) | |
| 1 | g.99884367C= | CA1183930559 | AGL | c.2462C= (p.Ala821=) n.2673C= c.2414C= (p.Ala805=) c.2411C= (p.Ala804=) c.722C= (p.Ala241=) | |
| 1 | g.99884367C>G | CA341321113 | AGL | c.2462C>G (p.Ala821Gly) n.2673C>G c.2414C>G (p.Ala805Gly) c.2411C>G (p.Ala804Gly) c.722C>G (p.Ala241Gly) | |
| 1 | g.99884367C>T | CA27519117 | AGL | c.2462C>T (p.Ala821Val) n.2673C>T c.2414C>T (p.Ala805Val) c.2411C>T (p.Ala804Val) c.722C>T (p.Ala241Val) | dbSNP |
| 1 | g.99884367_99884368insCACAA | CA2646737233 | AGL | c.2462_2463insCACAA (p.Gly822ThrfsTer16) n.2673_2674insCACAA c.2414_2415insCACAA (p.Gly806ThrfsTer16) c.2411_2412insCACAA (p.Gly805ThrfsTer16) c.722_723insCACAA (p.Gly242ThrfsTer16) | gnomAD v4 |
| 1 | g.99884368T>A | CA419314283 | AGL | c.2463T>A (p.Ala821=) n.2674T>A c.2415T>A (p.Ala805=) c.2412T>A (p.Ala804=) c.723T>A (p.Ala241=) | |
| 1 | g.99884368T>C | CA419314285 | AGL | c.2463T>C (p.Ala821=) n.2674T>C c.2415T>C (p.Ala805=) c.2412T>C (p.Ala804=) c.723T>C (p.Ala241=) | gnomAD v4 |
| 1 | g.99884368T>G | CA419314284 | AGL | c.2463T>G (p.Ala821=) n.2674T>G c.2415T>G (p.Ala805=) c.2412T>G (p.Ala804=) c.723T>G (p.Ala241=) | COSMIC |
| 1 | g.99884369G>A | CA341321114 | AGL | c.2464G>A (p.Gly822Arg) n.2675G>A c.2416G>A (p.Gly806Arg) c.2413G>A (p.Gly805Arg) c.724G>A (p.Gly242Arg) | gnomAD v4 |
| 1 | g.99884369G>C | CA341321116 | AGL | c.2464G>C (p.Gly822Arg) n.2675G>C c.2416G>C (p.Gly806Arg) c.2413G>C (p.Gly805Arg) c.724G>C (p.Gly242Arg) | |
| 1 | g.99884369G>T | CA341321115 | AGL | c.2464G>T (p.Gly822Ter) n.2675G>T c.2416G>T (p.Gly806Ter) c.2413G>T (p.Gly805Ter) c.724G>T (p.Gly242Ter) | |
| 1 | g.99884370del | CA2580063425 | AGL | c.2465del (p.Gly822GlufsTer14) n.2676del c.2417del (p.Gly806GlufsTer14) c.2414del (p.Gly805GlufsTer14) c.725del (p.Gly242GlufsTer14) | ClinVar |
| 1 | g.99884370G>A | CA341321117 | AGL | c.2465G>A (p.Gly822Glu) n.2676G>A c.2417G>A (p.Gly806Glu) c.2414G>A (p.Gly805Glu) c.725G>A (p.Gly242Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884370G>C | CA966798 | AGL | c.2465G>C (p.Gly822Ala) n.2676G>C c.2417G>C (p.Gly806Ala) c.2414G>C (p.Gly805Ala) c.725G>C (p.Gly242Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884370G= | CA1183930560 | AGL | c.2465G= (p.Gly822=) n.2676G= c.2417G= (p.Gly806=) c.2414G= (p.Gly805=) c.725G= (p.Gly242=) | |
| 1 | g.99884370G>T | CA341321118 | AGL | c.2465G>T (p.Gly822Val) n.2676G>T c.2417G>T (p.Gly806Val) c.2414G>T (p.Gly805Val) c.725G>T (p.Gly242Val) | |
| 1 | g.99884371A>C | CA419314286 | AGL | c.2466A>C (p.Gly822=) n.2677A>C c.2418A>C (p.Gly806=) c.2415A>C (p.Gly805=) c.726A>C (p.Gly242=) | |
| 1 | g.99884371A>G | CA419314287 | AGL | c.2466A>G (p.Gly822=) n.2677A>G c.2418A>G (p.Gly806=) c.2415A>G (p.Gly805=) c.726A>G (p.Gly242=) | |
| 1 | g.99884371A>T | CA419314288 | AGL | c.2466A>T (p.Gly822=) n.2677A>T c.2418A>T (p.Gly806=) c.2415A>T (p.Gly805=) c.726A>T (p.Gly242=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884372G>A | CA341321119 | AGL | c.2467G>A (p.Val823Ile) n.2678G>A c.2419G>A (p.Val807Ile) c.2416G>A (p.Val806Ile) c.727G>A (p.Val243Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884372G>C | CA341321120 | AGL | c.2467G>C (p.Val823Leu) n.2678G>C c.2419G>C (p.Val807Leu) c.2416G>C (p.Val806Leu) c.727G>C (p.Val243Leu) | |
| 1 | g.99884372G= | CA1183930561 | AGL | c.2467G= (p.Val823=) n.2678G= c.2419G= (p.Val807=) c.2416G= (p.Val806=) c.727G= (p.Val243=) | |
| 1 | g.99884372G>T | CA341321121 | AGL | c.2467G>T (p.Val823Phe) n.2678G>T c.2419G>T (p.Val807Phe) c.2416G>T (p.Val806Phe) c.727G>T (p.Val243Phe) | |
| 1 | g.99884373T>A | CA341321122 | AGL | c.2468T>A (p.Val823Asp) n.2679T>A c.2420T>A (p.Val807Asp) c.2417T>A (p.Val806Asp) c.728T>A (p.Val243Asp) | |
| 1 | g.99884373T>C | CA341321123 | AGL | c.2468T>C (p.Val823Ala) n.2679T>C c.2420T>C (p.Val807Ala) c.2417T>C (p.Val806Ala) c.728T>C (p.Val243Ala) | |
| 1 | g.99884373T>G | CA341321125 | AGL | c.2468T>G (p.Val823Gly) n.2679T>G c.2420T>G (p.Val807Gly) c.2417T>G (p.Val806Gly) c.728T>G (p.Val243Gly) | |
| 1 | g.99884374T>A | CA419314289 | AGL | c.2469T>A (p.Val823=) n.2680T>A c.2421T>A (p.Val807=) c.2418T>A (p.Val806=) c.729T>A (p.Val243=) | |
| 1 | g.99884374T>C | CA419314290 | AGL | c.2469T>C (p.Val823=) n.2680T>C c.2421T>C (p.Val807=) c.2418T>C (p.Val806=) c.729T>C (p.Val243=) | |
| 1 | g.99884374T>G | CA419314291 | AGL | c.2469T>G (p.Val823=) n.2680T>G c.2421T>G (p.Val807=) c.2418T>G (p.Val806=) c.729T>G (p.Val243=) | |
| 1 | g.99884375G>A | CA341321127 | AGL | c.2470G>A (p.Ala824Thr) n.2681G>A c.2422G>A (p.Ala808Thr) c.2419G>A (p.Ala807Thr) c.730G>A (p.Ala244Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884375G>C | CA341321129 | AGL | c.2470G>C (p.Ala824Pro) n.2681G>C c.2422G>C (p.Ala808Pro) c.2419G>C (p.Ala807Pro) c.730G>C (p.Ala244Pro) | |
| 1 | g.99884375G= | CA1183930562 | AGL | c.2470G= (p.Ala824=) n.2681G= c.2422G= (p.Ala808=) c.2419G= (p.Ala807=) c.730G= (p.Ala244=) | |
| 1 | g.99884375G>T | CA341321131 | AGL | c.2470G>T (p.Ala824Ser) n.2681G>T c.2422G>T (p.Ala808Ser) c.2419G>T (p.Ala807Ser) c.730G>T (p.Ala244Ser) | |
| 1 | g.99884376C>A | CA341321136 | AGL | c.2471C>A (p.Ala824Asp) n.2682C>A c.2423C>A (p.Ala808Asp) c.2420C>A (p.Ala807Asp) c.731C>A (p.Ala244Asp) | |
| 1 | g.99884376C>G | CA341321133 | AGL | c.2471C>G (p.Ala824Gly) n.2682C>G c.2423C>G (p.Ala808Gly) c.2420C>G (p.Ala807Gly) c.731C>G (p.Ala244Gly) | |
| 1 | g.99884376C>T | CA341321134 | AGL | c.2471C>T (p.Ala824Val) n.2682C>T c.2423C>T (p.Ala808Val) c.2420C>T (p.Ala807Val) c.731C>T (p.Ala244Val) | gnomAD v4 |
| 1 | g.99884377C>A | CA419314292 | AGL | c.2472C>A (p.Ala824=) n.2683C>A c.2424C>A (p.Ala808=) c.2421C>A (p.Ala807=) c.732C>A (p.Ala244=) | |
| 1 | g.99884377C>G | CA419314293 | AGL | c.2472C>G (p.Ala824=) n.2683C>G c.2424C>G (p.Ala808=) c.2421C>G (p.Ala807=) c.732C>G (p.Ala244=) | |
| 1 | g.99884377C>T | CA419314294 | AGL | c.2472C>T (p.Ala824=) n.2683C>T c.2424C>T (p.Ala808=) c.2421C>T (p.Ala807=) c.732C>T (p.Ala244=) | gnomAD v4 |
| 1 | g.99884378A= | CA1183930563 | AGL | c.2473A= (p.Thr825=) n.2684A= c.2425A= (p.Thr809=) c.2422A= (p.Thr808=) c.733A= (p.Thr245=) | |
| 1 | g.99884378A>C | CA341321137 | AGL | c.2473A>C (p.Thr825Pro) n.2684A>C c.2425A>C (p.Thr809Pro) c.2422A>C (p.Thr808Pro) c.733A>C (p.Thr245Pro) | |
| 1 | g.99884378A>G | CA341321139 | AGL | c.2473A>G (p.Thr825Ala) n.2684A>G c.2425A>G (p.Thr809Ala) c.2422A>G (p.Thr808Ala) c.733A>G (p.Thr245Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884378A>T | CA341321141 | AGL | c.2473A>T (p.Thr825Ser) n.2684A>T c.2425A>T (p.Thr809Ser) c.2422A>T (p.Thr808Ser) c.733A>T (p.Thr245Ser) | |
| 1 | g.99884379del | CA2580063432 | AGL | c.2474del (p.Thr825LysfsTer11) n.2685del c.2426del (p.Thr809LysfsTer11) c.2423del (p.Thr808LysfsTer11) c.734del (p.Thr245LysfsTer11) | ClinVar dbSNP |
| 1 | g.99884379C>A | CA341321143 | AGL | c.2474C>A (p.Thr825Lys) n.2685C>A c.2426C>A (p.Thr809Lys) c.2423C>A (p.Thr808Lys) c.734C>A (p.Thr245Lys) | gnomAD v4 |
| 1 | g.99884379C>G | CA341321145 | AGL | c.2474C>G (p.Thr825Arg) n.2685C>G c.2426C>G (p.Thr809Arg) c.2423C>G (p.Thr808Arg) c.734C>G (p.Thr245Arg) | |
| 1 | g.99884379C>T | CA341321147 | AGL | c.2474C>T (p.Thr825Ile) n.2685C>T c.2426C>T (p.Thr809Ile) c.2423C>T (p.Thr808Ile) c.734C>T (p.Thr245Ile) | |
| 1 | g.99884380A>C | CA419314295 | AGL | c.2475A>C (p.Thr825=) n.2686A>C c.2427A>C (p.Thr809=) c.2424A>C (p.Thr808=) c.735A>C (p.Thr245=) | |
| 1 | g.99884380A>G | CA419314297 | AGL | c.2475A>G (p.Thr825=) n.2686A>G c.2427A>G (p.Thr809=) c.2424A>G (p.Thr808=) c.735A>G (p.Thr245=) | |
| 1 | g.99884380A>T | CA419314296 | AGL | c.2475A>T (p.Thr825=) n.2686A>T c.2427A>T (p.Thr809=) c.2424A>T (p.Thr808=) c.735A>T (p.Thr245=) | |
| 1 | g.99884381A>C | CA341321149 | AGL | c.2476A>C (p.Lys826Gln) n.2687A>C c.2428A>C (p.Lys810Gln) c.2425A>C (p.Lys809Gln) c.736A>C (p.Lys246Gln) | |
| 1 | g.99884381A>G | CA341321150 | AGL | c.2476A>G (p.Lys826Glu) n.2687A>G c.2428A>G (p.Lys810Glu) c.2425A>G (p.Lys809Glu) c.736A>G (p.Lys246Glu) | gnomAD v4 |
| 1 | g.99884381A>T | CA341321153 | AGL | c.2476A>T (p.Lys826Ter) n.2687A>T c.2428A>T (p.Lys810Ter) c.2425A>T (p.Lys809Ter) c.736A>T (p.Lys246Ter) | |
| 1 | g.99884382A>C | CA341321155 | AGL | c.2477A>C (p.Lys826Thr) n.2688A>C c.2429A>C (p.Lys810Thr) c.2426A>C (p.Lys809Thr) c.737A>C (p.Lys246Thr) | |
| 1 | g.99884382A>G | CA341321157 | AGL | c.2477A>G (p.Lys826Arg) n.2688A>G c.2429A>G (p.Lys810Arg) c.2426A>G (p.Lys809Arg) c.737A>G (p.Lys246Arg) | |
| 1 | g.99884382A>T | CA341321159 | AGL | c.2477A>T (p.Lys826Ile) n.2688A>T c.2429A>T (p.Lys810Ile) c.2426A>T (p.Lys809Ile) c.737A>T (p.Lys246Ile) | |
| 1 | g.99884383A>C | CA341321161 | AGL | c.2478A>C (p.Lys826Asn) n.2689A>C c.2430A>C (p.Lys810Asn) c.2427A>C (p.Lys809Asn) c.738A>C (p.Lys246Asn) | |
| 1 | g.99884383A>G | CA419314298 | AGL | c.2478A>G (p.Lys826=) n.2689A>G c.2430A>G (p.Lys810=) c.2427A>G (p.Lys809=) c.738A>G (p.Lys246=) | |
| 1 | g.99884383A>T | CA341321162 | AGL | c.2478A>T (p.Lys826Asn) n.2689A>T c.2430A>T (p.Lys810Asn) c.2427A>T (p.Lys809Asn) c.738A>T (p.Lys246Asn) | |
| 1 | g.99884384G>A | CA341321164 | AGL | c.2479G>A (p.Gly827Arg) n.2690G>A c.2431G>A (p.Gly811Arg) c.2428G>A (p.Gly810Arg) c.739G>A (p.Gly247Arg) | |
| 1 | g.99884384G>C | CA341321168 | AGL | c.2479G>C (p.Gly827Arg) n.2690G>C c.2431G>C (p.Gly811Arg) c.2428G>C (p.Gly810Arg) c.739G>C (p.Gly247Arg) | COSMIC COSMIC |
| 1 | g.99884384G>T | CA341321166 | AGL | c.2479G>T (p.Gly827Trp) n.2690G>T c.2431G>T (p.Gly811Trp) c.2428G>T (p.Gly810Trp) c.739G>T (p.Gly247Trp) | |
| 1 | g.99884385G>A | CA341321169 | AGL | c.2480G>A (p.Gly827Glu) n.2691G>A c.2432G>A (p.Gly811Glu) c.2429G>A (p.Gly810Glu) c.740G>A (p.Gly247Glu) | |
| 1 | g.99884385G>C | CA341321171 | AGL | c.2480G>C (p.Gly827Ala) n.2691G>C c.2432G>C (p.Gly811Ala) c.2429G>C (p.Gly810Ala) c.740G>C (p.Gly247Ala) | |
| 1 | g.99884385G>T | CA341321173 | AGL | c.2480G>T (p.Gly827Val) n.2691G>T c.2432G>T (p.Gly811Val) c.2429G>T (p.Gly810Val) c.740G>T (p.Gly247Val) | |
| 1 | g.99884385_99884386insA | CA2580063433 | AGL | c.2480_2481insA (p.Pro828AlafsTer3) n.2691_2692insA c.2432_2433insA (p.Pro812AlafsTer3) c.2429_2430insA (p.Pro811AlafsTer3) c.740_741insA (p.Pro248AlafsTer3) | ClinVar |
| 1 | g.99884386G>A | CA419314299 | AGL | c.2481G>A (p.Gly827=) n.2692G>A c.2433G>A (p.Gly811=) c.2430G>A (p.Gly810=) c.741G>A (p.Gly247=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884386G>C | CA419314300 | AGL | c.2481G>C (p.Gly827=) n.2692G>C c.2433G>C (p.Gly811=) c.2430G>C (p.Gly810=) c.741G>C (p.Gly247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884386G= | CA1183930564 | AGL | c.2481G= (p.Gly827=) n.2692G= c.2433G= (p.Gly811=) c.2430G= (p.Gly810=) c.741G= (p.Gly247=) | |
| 1 | g.99884386G>T | CA419314301 | AGL | c.2481G>T (p.Gly827=) n.2692G>T c.2433G>T (p.Gly811=) c.2430G>T (p.Gly810=) c.741G>T (p.Gly247=) | COSMIC COSMIC |
| 1 | g.99884387C>A | CA341321175 | AGL | c.2482C>A (p.Pro828Thr) n.2693C>A c.2434C>A (p.Pro812Thr) c.2431C>A (p.Pro811Thr) c.742C>A (p.Pro248Thr) | |
| 1 | g.99884387C>G | CA341321177 | AGL | c.2482C>G (p.Pro828Ala) n.2693C>G c.2434C>G (p.Pro812Ala) c.2431C>G (p.Pro811Ala) c.742C>G (p.Pro248Ala) | |
| 1 | g.99884387C>T | CA341321179 | AGL | c.2482C>T (p.Pro828Ser) n.2693C>T c.2434C>T (p.Pro812Ser) c.2431C>T (p.Pro811Ser) c.742C>T (p.Pro248Ser) | |
| 1 | g.99884388C>A | CA341321182 | AGL | c.2483C>A (p.Pro828His) n.2694C>A c.2435C>A (p.Pro812His) c.2432C>A (p.Pro811His) c.743C>A (p.Pro248His) | gnomAD v3 gnomAD v4 |
| 1 | g.99884388C= | CA1183930565 | AGL | c.2483C= (p.Pro828=) n.2694C= c.2435C= (p.Pro812=) c.2432C= (p.Pro811=) c.743C= (p.Pro248=) | |
| 1 | g.99884388C>G | CA341321184 | AGL | c.2483C>G (p.Pro828Arg) n.2694C>G c.2435C>G (p.Pro812Arg) c.2432C>G (p.Pro811Arg) c.743C>G (p.Pro248Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99884388C>T | CA341321186 | AGL | c.2483C>T (p.Pro828Leu) n.2694C>T c.2435C>T (p.Pro812Leu) c.2432C>T (p.Pro811Leu) c.743C>T (p.Pro248Leu) | |
| 1 | g.99884389C>A | CA419314302 | AGL | c.2484C>A (p.Pro828=) n.2695C>A c.2436C>A (p.Pro812=) c.2433C>A (p.Pro811=) c.744C>A (p.Pro248=) | |
| 1 | g.99884389C= | CA1183930566 | AGL | c.2484C= (p.Pro828=) n.2695C= c.2436C= (p.Pro812=) c.2433C= (p.Pro811=) c.744C= (p.Pro248=) | |
| 1 | g.99884389C>G | CA419314303 | AGL | c.2484C>G (p.Pro828=) n.2695C>G c.2436C>G (p.Pro812=) c.2433C>G (p.Pro811=) c.744C>G (p.Pro248=) | |
| 1 | g.99884389C>T | CA419314304 | AGL | c.2484C>T (p.Pro828=) n.2695C>T c.2436C>T (p.Pro812=) c.2433C>T (p.Pro811=) c.744C>T (p.Pro248=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884390A>C | CA341321188 | AGL | c.2485A>C (p.Asn829His) n.2696A>C c.2437A>C (p.Asn813His) c.2434A>C (p.Asn812His) c.745A>C (p.Asn249His) | |
| 1 | g.99884390A>G | CA341321190 | AGL | c.2485A>G (p.Asn829Asp) n.2696A>G c.2437A>G (p.Asn813Asp) c.2434A>G (p.Asn812Asp) c.745A>G (p.Asn249Asp) | gnomAD v4 |
| 1 | g.99884390A>T | CA341321192 | AGL | c.2485A>T (p.Asn829Tyr) n.2696A>T c.2437A>T (p.Asn813Tyr) c.2434A>T (p.Asn812Tyr) c.745A>T (p.Asn249Tyr) | |
| 1 | g.99884391A= | CA1143359196 | AGL | c.2486A= (p.Asn829=) n.2697A= c.2438A= (p.Asn813=) c.2435A= (p.Asn812=) c.746A= (p.Asn249=) | |
| 1 | g.99884391A>C | CA341321195 | AGL | c.2486A>C (p.Asn829Thr) n.2697A>C c.2438A>C (p.Asn813Thr) c.2435A>C (p.Asn812Thr) c.746A>C (p.Asn249Thr) | |
| 1 | g.99884391A>G | CA966799 | AGL | c.2486A>G (p.Asn829Ser) n.2697A>G c.2438A>G (p.Asn813Ser) c.2435A>G (p.Asn812Ser) c.746A>G (p.Asn249Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884391A>T | CA341321196 | AGL | c.2486A>T (p.Asn829Ile) n.2697A>T c.2438A>T (p.Asn813Ile) c.2435A>T (p.Asn812Ile) c.746A>T (p.Asn249Ile) | |
| 1 | g.99884392T>A | CA341321199 | AGL | c.2487T>A (p.Asn829Lys) n.2698T>A c.2439T>A (p.Asn813Lys) c.2436T>A (p.Asn812Lys) c.747T>A (p.Asn249Lys) | |
| 1 | g.99884392T>C | CA419314305 | AGL | c.2487T>C (p.Asn829=) n.2698T>C c.2439T>C (p.Asn813=) c.2436T>C (p.Asn812=) c.747T>C (p.Asn249=) | |
| 1 | g.99884392T>G | CA966800 | AGL | c.2487T>G (p.Asn829Lys) n.2698T>G c.2439T>G (p.Asn813Lys) c.2436T>G (p.Asn812Lys) c.747T>G (p.Asn249Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.99884392T= | CA1183930567 | AGL | c.2487T= (p.Asn829=) n.2698T= c.2439T= (p.Asn813=) c.2436T= (p.Asn812=) c.747T= (p.Asn249=) | |
| 1 | g.99884393G>A | CA341321204 | AGL | c.2488G>A (p.Glu830Lys) n.2699G>A c.2440G>A (p.Glu814Lys) c.2437G>A (p.Glu813Lys) c.748G>A (p.Glu250Lys) | |
| 1 | g.99884393G>C | CA966801 | AGL | c.2488G>C (p.Glu830Gln) n.2699G>C c.2440G>C (p.Glu814Gln) c.2437G>C (p.Glu813Gln) c.748G>C (p.Glu250Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884393G= | CA1183930568 | AGL | c.2488G= (p.Glu830=) n.2699G= c.2440G= (p.Glu814=) c.2437G= (p.Glu813=) c.748G= (p.Glu250=) | |
| 1 | g.99884393G>T | CA341321206 | AGL | c.2488G>T (p.Glu830Ter) n.2699G>T c.2440G>T (p.Glu814Ter) c.2437G>T (p.Glu813Ter) c.748G>T (p.Glu250Ter) | COSMIC |
| 1 | g.99884394A>C | CA341321209 | AGL | c.2489A>C (p.Glu830Ala) n.2700A>C c.2441A>C (p.Glu814Ala) c.2438A>C (p.Glu813Ala) c.749A>C (p.Glu250Ala) | |
| 1 | g.99884394A>G | CA341321211 | AGL | c.2489A>G (p.Glu830Gly) n.2700A>G c.2441A>G (p.Glu814Gly) c.2438A>G (p.Glu813Gly) c.749A>G (p.Glu250Gly) | |
| 1 | g.99884394A>T | CA341321213 | AGL | c.2489A>T (p.Glu830Val) n.2700A>T c.2441A>T (p.Glu814Val) c.2438A>T (p.Glu813Val) c.749A>T (p.Glu250Val) | |
| 1 | g.99884395A= | CA1183930569 | AGL | c.2490A= (p.Glu830=) n.2701A= c.2442A= (p.Glu814=) c.2439A= (p.Glu813=) c.750A= (p.Glu250=) | |
| 1 | g.99884395A>C | CA341321215 | AGL | c.2490A>C (p.Glu830Asp) n.2701A>C c.2442A>C (p.Glu814Asp) c.2439A>C (p.Glu813Asp) c.750A>C (p.Glu250Asp) | |
| 1 | g.99884395A>G | CA27519173 | AGL | c.2490A>G (p.Glu830=) n.2701A>G c.2442A>G (p.Glu814=) c.2439A>G (p.Glu813=) c.750A>G (p.Glu250=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884395A>T | CA341321217 | AGL | c.2490A>T (p.Glu830Asp) n.2701A>T c.2442A>T (p.Glu814Asp) c.2439A>T (p.Glu813Asp) c.750A>T (p.Glu250Asp) | |
| 1 | g.99884396T>A | CA341321221 | AGL | c.2491T>A (p.Tyr831Asn) n.2702T>A c.2443T>A (p.Tyr815Asn) c.2440T>A (p.Tyr814Asn) c.751T>A (p.Tyr251Asn) | gnomAD v4 |
| 1 | g.99884396T>C | CA341321223 | AGL | c.2491T>C (p.Tyr831His) n.2702T>C c.2443T>C (p.Tyr815His) c.2440T>C (p.Tyr814His) c.751T>C (p.Tyr251His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884396T>G | CA341321219 | AGL | c.2491T>G (p.Tyr831Asp) n.2702T>G c.2443T>G (p.Tyr815Asp) c.2440T>G (p.Tyr814Asp) c.751T>G (p.Tyr251Asp) | gnomAD v4 |
| 1 | g.99884397A= | CA1183930570 | AGL | c.2492A= (p.Tyr831=) n.2703A= c.2444A= (p.Tyr815=) c.2441A= (p.Tyr814=) c.752A= (p.Tyr251=) | |
| 1 | g.99884397A>C | CA341321225 | AGL | c.2492A>C (p.Tyr831Ser) n.2703A>C c.2444A>C (p.Tyr815Ser) c.2441A>C (p.Tyr814Ser) c.752A>C (p.Tyr251Ser) | |
| 1 | g.99884397A>G | CA341321227 | AGL | c.2492A>G (p.Tyr831Cys) n.2703A>G c.2444A>G (p.Tyr815Cys) c.2441A>G (p.Tyr814Cys) c.752A>G (p.Tyr251Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99884397A>T | CA341321229 | AGL | c.2492A>T (p.Tyr831Phe) n.2703A>T c.2444A>T (p.Tyr815Phe) c.2441A>T (p.Tyr814Phe) c.752A>T (p.Tyr251Phe) | |
| 1 | g.99884398T>A | CA341321231 | AGL | c.2493T>A (p.Tyr831Ter) n.2704T>A c.2445T>A (p.Tyr815Ter) c.2442T>A (p.Tyr814Ter) c.753T>A (p.Tyr251Ter) | |
| 1 | g.99884398T>C | CA419314306 | AGL | c.2493T>C (p.Tyr831=) n.2704T>C c.2445T>C (p.Tyr815=) c.2442T>C (p.Tyr814=) c.753T>C (p.Tyr251=) | ClinVar gnomAD v4 |
| 1 | g.99884398T>G | CA341321233 | AGL | c.2493T>G (p.Tyr831Ter) n.2704T>G c.2445T>G (p.Tyr815Ter) c.2442T>G (p.Tyr814Ter) c.753T>G (p.Tyr251Ter) | gnomAD v4 |
| 1 | g.99884399A>C | CA341321235 | AGL | c.2494A>C (p.Ile832Leu) n.2705A>C c.2446A>C (p.Ile816Leu) c.2443A>C (p.Ile815Leu) c.754A>C (p.Ile252Leu) | |
| 1 | g.99884399A>G | CA341321237 | AGL | c.2494A>G (p.Ile832Val) n.2705A>G c.2446A>G (p.Ile816Val) c.2443A>G (p.Ile815Val) c.754A>G (p.Ile252Val) | |
| 1 | g.99884399A>T | CA341321239 | AGL | c.2494A>T (p.Ile832Phe) n.2705A>T c.2446A>T (p.Ile816Phe) c.2443A>T (p.Ile815Phe) c.754A>T (p.Ile252Phe) | |
| 1 | g.99884399dup | CA2573132018 | AGL | c.2494dup (p.Ile832AsnfsTer7) n.2705dup c.2446dup (p.Ile816AsnfsTer7) c.2443dup (p.Ile815AsnfsTer7) c.754dup (p.Ile252AsnfsTer7) | ClinVar dbSNP |
| 1 | g.99884400T>A | CA341321241 | AGL | c.2495T>A (p.Ile832Asn) n.2706T>A c.2447T>A (p.Ile816Asn) c.2444T>A (p.Ile815Asn) c.755T>A (p.Ile252Asn) | |
| 1 | g.99884400T>C | CA341321243 | AGL | c.2495T>C (p.Ile832Thr) n.2706T>C c.2447T>C (p.Ile816Thr) c.2444T>C (p.Ile815Thr) c.755T>C (p.Ile252Thr) | gnomAD v4 |
| 1 | g.99884400T>G | CA341321245 | AGL | c.2495T>G (p.Ile832Ser) n.2706T>G c.2447T>G (p.Ile816Ser) c.2444T>G (p.Ile815Ser) c.755T>G (p.Ile252Ser) | gnomAD v4 |
| 1 | g.99884401T>A | CA419314307 | AGL | c.2496T>A (p.Ile832=) n.2707T>A c.2448T>A (p.Ile816=) c.2445T>A (p.Ile815=) c.756T>A (p.Ile252=) | gnomAD v4 |
| 1 | g.99884401T>C | CA419314308 | AGL | c.2496T>C (p.Ile832=) n.2707T>C c.2448T>C (p.Ile816=) c.2445T>C (p.Ile815=) c.756T>C (p.Ile252=) | gnomAD v4 |
| 1 | g.99884401T>G | CA341321247 | AGL | c.2496T>G (p.Ile832Met) n.2707T>G c.2448T>G (p.Ile816Met) c.2445T>G (p.Ile815Met) c.756T>G (p.Ile252Met) | gnomAD v4 |
| 1 | g.99884402C>A | CA966802 | AGL | c.2497C>A (p.Gln833Lys) n.2708C>A c.2449C>A (p.Gln817Lys) c.2446C>A (p.Gln816Lys) c.757C>A (p.Gln253Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884402C= | CA1183930571 | AGL | c.2497C= (p.Gln833=) n.2708C= c.2449C= (p.Gln817=) c.2446C= (p.Gln816=) c.757C= (p.Gln253=) | |
| 1 | g.99884402C>G | CA341321254 | AGL | c.2497C>G (p.Gln833Glu) n.2708C>G c.2449C>G (p.Gln817Glu) c.2446C>G (p.Gln816Glu) c.757C>G (p.Gln253Glu) | |
| 1 | g.99884402C>T | CA341321252 | AGL | c.2497C>T (p.Gln833Ter) n.2708C>T c.2449C>T (p.Gln817Ter) c.2446C>T (p.Gln816Ter) c.757C>T (p.Gln253Ter) | ClinVar dbSNP |
| 1 | g.99884403A= | CA1183930572 | AGL | c.2498A= (p.Gln833=) n.2709A= c.2450A= (p.Gln817=) c.2447A= (p.Gln816=) c.758A= (p.Gln253=) | |
| 1 | g.99884403A>C | CA341321257 | AGL | c.2498A>C (p.Gln833Pro) n.2709A>C c.2450A>C (p.Gln817Pro) c.2447A>C (p.Gln816Pro) c.758A>C (p.Gln253Pro) | ClinVar |
| 1 | g.99884403A>G | CA341321258 | AGL | c.2498A>G (p.Gln833Arg) n.2709A>G c.2450A>G (p.Gln817Arg) c.2447A>G (p.Gln816Arg) c.758A>G (p.Gln253Arg) | ClinVar dbSNP |
| 1 | g.99884403A>T | CA341321260 | AGL | c.2498A>T (p.Gln833Leu) n.2709A>T c.2450A>T (p.Gln817Leu) c.2447A>T (p.Gln816Leu) c.758A>T (p.Gln253Leu) | |
| 1 | g.99884404A>C | CA341321262 | AGL | c.2499A>C (p.Gln833His) n.2710A>C c.2451A>C (p.Gln817His) c.2448A>C (p.Gln816His) c.759A>C (p.Gln253His) | |
| 1 | g.99884404A>G | CA419314309 | AGL | c.2499A>G (p.Gln833=) n.2710A>G c.2451A>G (p.Gln817=) c.2448A>G (p.Gln816=) c.759A>G (p.Gln253=) | |
| 1 | g.99884404A>T | CA341321264 | AGL | c.2499A>T (p.Gln833His) n.2710A>T c.2451A>T (p.Gln817His) c.2448A>T (p.Gln816His) c.759A>T (p.Gln253His) | |
| 1 | g.99884405del | CA2739272707 | AGL | c.2500del (p.Glu834LysfsTer2) n.2711del c.2452del (p.Glu818LysfsTer2) c.2449del (p.Glu817LysfsTer2) c.760del (p.Glu254LysfsTer2) | ClinVar |
| 1 | g.99884405G>A | CA341321268 | AGL | c.2500G>A (p.Glu834Lys) n.2711G>A c.2452G>A (p.Glu818Lys) c.2449G>A (p.Glu817Lys) c.760G>A (p.Glu254Lys) | |
| 1 | g.99884405G>C | CA341321265 | AGL | c.2500G>C (p.Glu834Gln) n.2711G>C c.2452G>C (p.Glu818Gln) c.2449G>C (p.Glu817Gln) c.760G>C (p.Glu254Gln) | |
| 1 | g.99884405G>T | CA341321266 | AGL | c.2500G>T (p.Glu834Ter) n.2711G>T c.2452G>T (p.Glu818Ter) c.2449G>T (p.Glu817Ter) c.760G>T (p.Glu254Ter) | |
| 1 | g.99884406A= | CA1183930573 | AGL | c.2501A= (p.Glu834=) n.2712A= c.2453A= (p.Glu818=) c.2450A= (p.Glu817=) c.761A= (p.Glu254=) | |
| 1 | g.99884406A>C | CA341321270 | AGL | c.2501A>C (p.Glu834Ala) n.2712A>C c.2453A>C (p.Glu818Ala) c.2450A>C (p.Glu817Ala) c.761A>C (p.Glu254Ala) | dbSNP |
| 1 | g.99884406A>G | CA341321272 | AGL | c.2501A>G (p.Glu834Gly) n.2712A>G c.2453A>G (p.Glu818Gly) c.2450A>G (p.Glu817Gly) c.761A>G (p.Glu254Gly) | |
| 1 | g.99884406A>T | CA341321274 | AGL | c.2501A>T (p.Glu834Val) n.2712A>T c.2453A>T (p.Glu818Val) c.2450A>T (p.Glu817Val) c.761A>T (p.Glu254Val) | |
| 1 | g.99884407A>C | CA341321277 | AGL | c.2502A>C (p.Glu834Asp) n.2713A>C c.2454A>C (p.Glu818Asp) c.2451A>C (p.Glu817Asp) c.762A>C (p.Glu254Asp) | |
| 1 | g.99884407A>G | CA419314310 | AGL | c.2502A>G (p.Glu834=) n.2713A>G c.2454A>G (p.Glu818=) c.2451A>G (p.Glu817=) c.762A>G (p.Glu254=) | |
| 1 | g.99884407A>T | CA341321279 | AGL | c.2502A>T (p.Glu834Asp) n.2713A>T c.2454A>T (p.Glu818Asp) c.2451A>T (p.Glu817Asp) c.762A>T (p.Glu254Asp) | |
| 1 | g.99884408A= | CA1183930574 | AGL | c.2503A= (p.Ile835=) n.2714A= c.2455A= (p.Ile819=) c.2452A= (p.Ile818=) c.763A= (p.Ile255=) | |
| 1 | g.99884408A>C | CA341321285 | AGL | c.2503A>C (p.Ile835Leu) n.2714A>C c.2455A>C (p.Ile819Leu) c.2452A>C (p.Ile818Leu) c.763A>C (p.Ile255Leu) | |
| 1 | g.99884408A>G | CA341321283 | AGL | c.2503A>G (p.Ile835Val) n.2714A>G c.2455A>G (p.Ile819Val) c.2452A>G (p.Ile818Val) c.763A>G (p.Ile255Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99884408A>T | CA341321281 | AGL | c.2503A>T (p.Ile835Leu) n.2714A>T c.2455A>T (p.Ile819Leu) c.2452A>T (p.Ile818Leu) c.763A>T (p.Ile255Leu) | |
| 1 | g.99884409T>A | CA341321287 | AGL | c.2504T>A (p.Ile835Lys) n.2715T>A c.2456T>A (p.Ile819Lys) c.2453T>A (p.Ile818Lys) c.764T>A (p.Ile255Lys) | |
| 1 | g.99884409T>C | CA341321290 | AGL | c.2504T>C (p.Ile835Thr) n.2715T>C c.2456T>C (p.Ile819Thr) c.2453T>C (p.Ile818Thr) c.764T>C (p.Ile255Thr) | gnomAD v4 |
| 1 | g.99884409T>G | CA341321288 | AGL | c.2504T>G (p.Ile835Arg) n.2715T>G c.2456T>G (p.Ile819Arg) c.2453T>G (p.Ile818Arg) c.764T>G (p.Ile255Arg) | |
| 1 | g.99884410A= | CA1183930575 | AGL | c.2505A= (p.Ile835=) n.2716A= c.2457A= (p.Ile819=) c.2454A= (p.Ile818=) c.765A= (p.Ile255=) | |
| 1 | g.99884410A>C | CA419314312 | AGL | c.2505A>C (p.Ile835=) n.2716A>C c.2457A>C (p.Ile819=) c.2454A>C (p.Ile818=) c.765A>C (p.Ile255=) | |
| 1 | g.99884410A>G | CA341321291 | AGL | c.2505A>G (p.Ile835Met) n.2716A>G c.2457A>G (p.Ile819Met) c.2454A>G (p.Ile818Met) c.765A>G (p.Ile255Met) | ClinVar dbSNP |
| 1 | g.99884410A>T | CA419314311 | AGL | c.2505A>T (p.Ile835=) n.2716A>T c.2457A>T (p.Ile819=) c.2454A>T (p.Ile818=) c.765A>T (p.Ile255=) | |
| 1 | g.99884411G>A | CA966803 | AGL | c.2506G>A (p.Glu836Lys) n.2717G>A c.2458G>A (p.Glu820Lys) c.2455G>A (p.Glu819Lys) c.766G>A (p.Glu256Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884411G>C | CA341321292 | AGL | c.2506G>C (p.Glu836Gln) n.2717G>C c.2458G>C (p.Glu820Gln) c.2455G>C (p.Glu819Gln) c.766G>C (p.Glu256Gln) | gnomAD v4 |
| 1 | g.99884411G= | CA1183930576 | AGL | c.2506G= (p.Glu836=) n.2717G= c.2458G= (p.Glu820=) c.2455G= (p.Glu819=) c.766G= (p.Glu256=) | |
| 1 | g.99884411G>T | CA341321295 | AGL | c.2506G>T (p.Glu836Ter) n.2717G>T c.2458G>T (p.Glu820Ter) c.2455G>T (p.Glu819Ter) c.766G>T (p.Glu256Ter) | COSMIC |
| 1 | g.99884412A>C | CA341321297 | AGL | c.2507A>C (p.Glu836Ala) n.2718A>C c.2459A>C (p.Glu820Ala) c.2456A>C (p.Glu819Ala) c.767A>C (p.Glu256Ala) | |
| 1 | g.99884412A>G | CA341321299 | AGL | c.2507A>G (p.Glu836Gly) n.2718A>G c.2459A>G (p.Glu820Gly) c.2456A>G (p.Glu819Gly) c.767A>G (p.Glu256Gly) | |
| 1 | g.99884412A>T | CA341321301 | AGL | c.2507A>T (p.Glu836Val) n.2718A>T c.2459A>T (p.Glu820Val) c.2456A>T (p.Glu819Val) c.767A>T (p.Glu256Val) | |
| 1 | g.99884413A= | CA1148295091 | AGL | c.2508A= (p.Glu836=) n.2719A= c.2460A= (p.Glu820=) c.2457A= (p.Glu819=) c.768A= (p.Glu256=) | |
| 1 | g.99884413A>C | CA341321303 | AGL | c.2508A>C (p.Glu836Asp) n.2719A>C c.2460A>C (p.Glu820Asp) c.2457A>C (p.Glu819Asp) c.768A>C (p.Glu256Asp) | |
| 1 | g.99884413A>G | CA419314313 | AGL | c.2508A>G (p.Glu836=) n.2719A>G c.2460A>G (p.Glu820=) c.2457A>G (p.Glu819=) c.768A>G (p.Glu256=) | gnomAD v4 |
| 1 | g.99884413A>T | CA966804 | AGL | c.2508A>T (p.Glu836Asp) n.2719A>T c.2460A>T (p.Glu820Asp) c.2457A>T (p.Glu819Asp) c.768A>T (p.Glu256Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884414T>A | CA341321305 | AGL | c.2509T>A (p.Phe837Ile) n.2720T>A c.2461T>A (p.Phe821Ile) c.2458T>A (p.Phe820Ile) c.769T>A (p.Phe257Ile) | |
| 1 | g.99884414T>C | CA341321307 | AGL | c.2509T>C (p.Phe837Leu) n.2720T>C c.2461T>C (p.Phe821Leu) c.2458T>C (p.Phe820Leu) c.769T>C (p.Phe257Leu) | dbSNP gnomAD v4 |
| 1 | g.99884414T>G | CA341321309 | AGL | c.2509T>G (p.Phe837Val) n.2720T>G c.2461T>G (p.Phe821Val) c.2458T>G (p.Phe820Val) c.769T>G (p.Phe257Val) | |
| 1 | g.99884415T>A | CA341321311 | AGL | c.2510T>A (p.Phe837Tyr) n.2721T>A c.2462T>A (p.Phe821Tyr) c.2459T>A (p.Phe820Tyr) c.770T>A (p.Phe257Tyr) | |
| 1 | g.99884415T>C | CA341321312 | AGL | c.2510T>C (p.Phe837Ser) n.2721T>C c.2462T>C (p.Phe821Ser) c.2459T>C (p.Phe820Ser) c.770T>C (p.Phe257Ser) | |
| 1 | g.99884415T>G | CA341321313 | AGL | c.2510T>G (p.Phe837Cys) n.2721T>G c.2462T>G (p.Phe821Cys) c.2459T>G (p.Phe820Cys) c.770T>G (p.Phe257Cys) | |
| 1 | g.99884416T>A | CA341321316 | AGL | c.2511T>A (p.Phe837Leu) n.2722T>A c.2463T>A (p.Phe821Leu) c.2460T>A (p.Phe820Leu) c.771T>A (p.Phe257Leu) | |
| 1 | g.99884416T>C | CA419314314 | AGL | c.2511T>C (p.Phe837=) n.2722T>C c.2463T>C (p.Phe821=) c.2460T>C (p.Phe820=) c.771T>C (p.Phe257=) | |
| 1 | g.99884416T>G | CA341321317 | AGL | c.2511T>G (p.Phe837Leu) n.2722T>G c.2463T>G (p.Phe821Leu) c.2460T>G (p.Phe820Leu) c.771T>G (p.Phe257Leu) | gnomAD v4 |
| 1 | g.99884417G>A | CA341321323 | AGL | c.2512G>A (p.Glu838Lys) n.2723G>A c.2464G>A (p.Glu822Lys) c.2461G>A (p.Glu821Lys) c.772G>A (p.Glu258Lys) | |
| 1 | g.99884417G>C | CA341321319 | AGL | c.2512G>C (p.Glu838Gln) n.2723G>C c.2464G>C (p.Glu822Gln) c.2461G>C (p.Glu821Gln) c.772G>C (p.Glu258Gln) | |
| 1 | g.99884417G>T | CA341321321 | AGL | c.2512G>T (p.Glu838Ter) n.2723G>T c.2464G>T (p.Glu822Ter) c.2461G>T (p.Glu821Ter) c.772G>T (p.Glu258Ter) | |
| 1 | g.99884418A>C | CA341321325 | AGL | c.2513A>C (p.Glu838Ala) n.2724A>C c.2465A>C (p.Glu822Ala) c.2462A>C (p.Glu821Ala) c.773A>C (p.Glu258Ala) | |
| 1 | g.99884418A>G | CA341321327 | AGL | c.2513A>G (p.Glu838Gly) n.2724A>G c.2465A>G (p.Glu822Gly) c.2462A>G (p.Glu821Gly) c.773A>G (p.Glu258Gly) | |
| 1 | g.99884418A>T | CA341321329 | AGL | c.2513A>T (p.Glu838Val) n.2724A>T c.2465A>T (p.Glu822Val) c.2462A>T (p.Glu821Val) c.773A>T (p.Glu258Val) | |
| 1 | g.99884421dup | CA2580063436 | AGL | c.2516dup (p.Asn839LysfsTer13) n.2727dup c.2468dup (p.Asn823LysfsTer13) c.2465dup (p.Asn822LysfsTer13) c.776dup (p.Asn259LysfsTer13) | ClinVar |
| 1 | g.99884419A= | CA1183930577 | AGL | c.2514A= (p.Glu838=) n.2725A= c.2466A= (p.Glu822=) c.2463A= (p.Glu821=) c.774A= (p.Glu258=) | |
| 1 | g.99884419A>C | CA341321331 | AGL | c.2514A>C (p.Glu838Asp) n.2725A>C c.2466A>C (p.Glu822Asp) c.2463A>C (p.Glu821Asp) c.774A>C (p.Glu258Asp) | |
| 1 | g.99884419A>G | CA419314315 | AGL | c.2514A>G (p.Glu838=) n.2725A>G c.2466A>G (p.Glu822=) c.2463A>G (p.Glu821=) c.774A>G (p.Glu258=) | dbSNP |
| 1 | g.99884419A>T | CA341321333 | AGL | c.2514A>T (p.Glu838Asp) n.2725A>T c.2466A>T (p.Glu822Asp) c.2463A>T (p.Glu821Asp) c.774A>T (p.Glu258Asp) | |
| 1 | g.99884420A>C | CA341321335 | AGL | c.2515A>C (p.Asn839His) n.2726A>C c.2467A>C (p.Asn823His) c.2464A>C (p.Asn822His) c.775A>C (p.Asn259His) | |
| 1 | g.99884420A>G | CA341321337 | AGL | c.2515A>G (p.Asn839Asp) n.2726A>G c.2467A>G (p.Asn823Asp) c.2464A>G (p.Asn822Asp) c.775A>G (p.Asn259Asp) | |
| 1 | g.99884420A>T | CA341321338 | AGL | c.2515A>T (p.Asn839Tyr) n.2726A>T c.2467A>T (p.Asn823Tyr) c.2464A>T (p.Asn822Tyr) c.775A>T (p.Asn259Tyr) | |
| 1 | g.99884421A>C | CA341321340 | AGL | c.2516A>C (p.Asn839Thr) n.2727A>C c.2468A>C (p.Asn823Thr) c.2465A>C (p.Asn822Thr) c.776A>C (p.Asn259Thr) | gnomAD v4 |
| 1 | g.99884421A>G | CA341321342 | AGL | c.2516A>G (p.Asn839Ser) n.2727A>G c.2468A>G (p.Asn823Ser) c.2465A>G (p.Asn822Ser) c.776A>G (p.Asn259Ser) | |
| 1 | g.99884421A>T | CA341321344 | AGL | c.2516A>T (p.Asn839Ile) n.2727A>T c.2468A>T (p.Asn823Ile) c.2465A>T (p.Asn822Ile) c.776A>T (p.Asn259Ile) | |
| 1 | g.99884422C>A | CA341321345 | AGL | c.2517C>A (p.Asn839Lys) n.2728C>A c.2469C>A (p.Asn823Lys) c.2466C>A (p.Asn822Lys) c.777C>A (p.Asn259Lys) | |
| 1 | g.99884422C= | CA1183930578 | AGL | c.2517C= (p.Asn839=) n.2728C= c.2469C= (p.Asn823=) c.2466C= (p.Asn822=) c.777C= (p.Asn259=) | |
| 1 | g.99884422C>G | CA341321347 | AGL | c.2517C>G (p.Asn839Lys) n.2728C>G c.2469C>G (p.Asn823Lys) c.2466C>G (p.Asn822Lys) c.777C>G (p.Asn259Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99884422C>T | CA419314316 | AGL | c.2517C>T (p.Asn839=) n.2728C>T c.2469C>T (p.Asn823=) c.2466C>T (p.Asn822=) c.777C>T (p.Asn259=) | |
| 1 | g.99884423T>A | CA341321348 | AGL | c.2518T>A (p.Leu840Met) n.2729T>A c.2470T>A (p.Leu824Met) c.2467T>A (p.Leu823Met) c.778T>A (p.Leu260Met) | |
| 1 | g.99884423T>C | CA419314317 | AGL | c.2518T>C (p.Leu840=) n.2729T>C c.2470T>C (p.Leu824=) c.2467T>C (p.Leu823=) c.778T>C (p.Leu260=) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.99884423T>G | CA341321350 | AGL | c.2518T>G (p.Leu840Val) n.2729T>G c.2470T>G (p.Leu824Val) c.2467T>G (p.Leu823Val) c.778T>G (p.Leu260Val) | |
| 1 | g.99884424T>A | CA341321352 | AGL | c.2519T>A (p.Leu840Ter) n.2730T>A c.2471T>A (p.Leu824Ter) c.2468T>A (p.Leu823Ter) c.779T>A (p.Leu260Ter) | |
| 1 | g.99884424T>C | CA341321354 | AGL | c.2519T>C (p.Leu840Ser) n.2730T>C c.2471T>C (p.Leu824Ser) c.2468T>C (p.Leu823Ser) c.779T>C (p.Leu260Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99884424T>G | CA341321356 | AGL | c.2519T>G (p.Leu840Trp) n.2730T>G c.2471T>G (p.Leu824Trp) c.2468T>G (p.Leu823Trp) c.779T>G (p.Leu260Trp) | |
| 1 | g.99884424T= | CA1183930579 | AGL | c.2519T= (p.Leu840=) n.2730T= c.2471T= (p.Leu824=) c.2468T= (p.Leu823=) c.779T= (p.Leu260=) | |
| 1 | g.99884425G>A | CA419314318 | AGL | c.2520G>A (p.Leu840=) n.2731G>A c.2472G>A (p.Leu824=) c.2469G>A (p.Leu823=) c.780G>A (p.Leu260=) | |
| 1 | g.99884425G>C | CA341321359 | AGL | c.2520G>C (p.Leu840Phe) n.2731G>C c.2472G>C (p.Leu824Phe) c.2469G>C (p.Leu823Phe) c.780G>C (p.Leu260Phe) | |
| 1 | g.99884425G= | CA1183930580 | AGL | c.2520G= (p.Leu840=) n.2731G= c.2472G= (p.Leu824=) c.2469G= (p.Leu823=) c.780G= (p.Leu260=) | |
| 1 | g.99884425G>T | CA341321361 | AGL | c.2520G>T (p.Leu840Phe) n.2731G>T c.2472G>T (p.Leu824Phe) c.2469G>T (p.Leu823Phe) c.780G>T (p.Leu260Phe) | dbSNP COSMIC COSMIC |
| 1 | g.99884425_99884429dup | CA966805 | AGL | c.2520_2524dup (p.Pro842ArgfsTer28) n.2731_2735dup c.2472_2476dup (p.Pro826ArgfsTer28) c.2469_2473dup (p.Pro825ArgfsTer28) c.780_784dup (p.Pro262ArgfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884426T>A | CA341321363 | AGL | c.2521T>A (p.Ser841Thr) n.2732T>A c.2473T>A (p.Ser825Thr) c.2470T>A (p.Ser824Thr) c.781T>A (p.Ser261Thr) | |
| 1 | g.99884426T>C | CA966806 | AGL | c.2521T>C (p.Ser841Pro) n.2732T>C c.2473T>C (p.Ser825Pro) c.2470T>C (p.Ser824Pro) c.781T>C (p.Ser261Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884426T>G | CA341321364 | AGL | c.2521T>G (p.Ser841Ala) n.2732T>G c.2473T>G (p.Ser825Ala) c.2470T>G (p.Ser824Ala) c.781T>G (p.Ser261Ala) | |
| 1 | g.99884426T= | CA1183930581 | AGL | c.2521T= (p.Ser841=) n.2732T= c.2473T= (p.Ser825=) c.2470T= (p.Ser824=) c.781T= (p.Ser261=) | |
| 1 | g.99884427C>A | CA966808 | AGL | c.2522C>A (p.Ser841Tyr) n.2733C>A c.2474C>A (p.Ser825Tyr) c.2471C>A (p.Ser824Tyr) c.782C>A (p.Ser261Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99884427C= | CA1142364300 | AGL | c.2522C= (p.Ser841=) n.2733C= c.2474C= (p.Ser825=) c.2471C= (p.Ser824=) c.782C= (p.Ser261=) | |
| 1 | g.99884427C>G | CA341321367 | AGL | c.2522C>G (p.Ser841Cys) n.2733C>G c.2474C>G (p.Ser825Cys) c.2471C>G (p.Ser824Cys) c.782C>G (p.Ser261Cys) | |
| 1 | g.99884427C>T | CA966807 | AGL | c.2522C>T (p.Ser841Phe) n.2733C>T c.2474C>T (p.Ser825Phe) c.2471C>T (p.Ser824Phe) c.782C>T (p.Ser261Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884428T>A | CA419314319 | AGL | c.2523T>A (p.Ser841=) n.2734T>A c.2475T>A (p.Ser825=) c.2472T>A (p.Ser824=) c.783T>A (p.Ser261=) | |
| 1 | g.99884428T>C | CA419314320 | AGL | c.2523T>C (p.Ser841=) n.2734T>C c.2475T>C (p.Ser825=) c.2472T>C (p.Ser824=) c.783T>C (p.Ser261=) | |
| 1 | g.99884428T>G | CA419314321 | AGL | c.2523T>G (p.Ser841=) n.2734T>G c.2475T>G (p.Ser825=) c.2472T>G (p.Ser824=) c.783T>G (p.Ser261=) | |
| 1 | g.99884428_99884429delinsTC | CA1183930582 | AGL | c.2523_2524delinsTC (p.Ser841=) n.2734_2735delinsTC c.2475_2476delinsTC (p.Ser825=) c.2472_2473delinsTC (p.Ser824=) c.783_784delinsTC (p.Ser261=) | |
| 1 | g.99884429C>A | CA341321376 | AGL | c.2524C>A (p.Pro842Thr) n.2735C>A c.2476C>A (p.Pro826Thr) c.2473C>A (p.Pro825Thr) c.784C>A (p.Pro262Thr) | |
| 1 | g.99884429C>G | CA341321374 | AGL | c.2524C>G (p.Pro842Ala) n.2735C>G c.2476C>G (p.Pro826Ala) c.2473C>G (p.Pro825Ala) c.784C>G (p.Pro262Ala) | |
| 1 | g.99884429C>T | CA341321371 | AGL | c.2524C>T (p.Pro842Ser) n.2735C>T c.2476C>T (p.Pro826Ser) c.2473C>T (p.Pro825Ser) c.784C>T (p.Pro262Ser) | |
| 1 | g.99884430del | CA16040836 | AGL | c.2525del (p.Pro842GlnfsTer26) n.2736del c.2477del (p.Pro826GlnfsTer26) c.2474del (p.Pro825GlnfsTer26) c.785del (p.Pro262GlnfsTer26) | ClinVar dbSNP |
| 1 | g.99884430C>A | CA341321378 | AGL | c.2525C>A (p.Pro842Gln) n.2736C>A c.2477C>A (p.Pro826Gln) c.2474C>A (p.Pro825Gln) c.785C>A (p.Pro262Gln) | gnomAD v4 |
| 1 | g.99884430C>G | CA341321380 | AGL | c.2525C>G (p.Pro842Arg) n.2736C>G c.2477C>G (p.Pro826Arg) c.2474C>G (p.Pro825Arg) c.785C>G (p.Pro262Arg) | |
| 1 | g.99884430C>T | CA341321382 | AGL | c.2525C>T (p.Pro842Leu) n.2736C>T c.2477C>T (p.Pro826Leu) c.2474C>T (p.Pro825Leu) c.785C>T (p.Pro262Leu) | dbSNP |
| 1 | g.99884431A>C | CA419314322 | AGL | c.2526A>C (p.Pro842=) n.2737A>C c.2478A>C (p.Pro826=) c.2475A>C (p.Pro825=) c.786A>C (p.Pro262=) | |
| 1 | g.99884431A>G | CA419314323 | AGL | c.2526A>G (p.Pro842=) n.2737A>G c.2478A>G (p.Pro826=) c.2475A>G (p.Pro825=) c.786A>G (p.Pro262=) | ClinVar |
| 1 | g.99884431A>T | CA419314324 | AGL | c.2526A>T (p.Pro842=) n.2737A>T c.2478A>T (p.Pro826=) c.2475A>T (p.Pro825=) c.786A>T (p.Pro262=) | |
| 1 | g.99884432G>A | CA341321384 | AGL | c.2527G>A (p.Gly843Arg) n.2738G>A c.2479G>A (p.Gly827Arg) c.2476G>A (p.Gly826Arg) c.787G>A (p.Gly263Arg) | |
| 1 | g.99884432G>C | CA341321385 | AGL | c.2527G>C (p.Gly843Arg) n.2738G>C c.2479G>C (p.Gly827Arg) c.2476G>C (p.Gly826Arg) c.787G>C (p.Gly263Arg) | |
| 1 | g.99884432G>T | CA341321387 | AGL | c.2527G>T (p.Gly843Ter) n.2738G>T c.2479G>T (p.Gly827Ter) c.2476G>T (p.Gly826Ter) c.787G>T (p.Gly263Ter) | |
| 1 | g.99884433G>A | CA341321389 | AGL | c.2528G>A (p.Gly843Glu) n.2739G>A c.2480G>A (p.Gly827Glu) c.2477G>A (p.Gly826Glu) c.788G>A (p.Gly263Glu) | |
| 1 | g.99884433G>C | CA341321390 | AGL | c.2528G>C (p.Gly843Ala) n.2739G>C c.2480G>C (p.Gly827Ala) c.2477G>C (p.Gly826Ala) c.788G>C (p.Gly263Ala) | |
| 1 | g.99884433G>T | CA341321392 | AGL | c.2528G>T (p.Gly843Val) n.2739G>T c.2480G>T (p.Gly827Val) c.2477G>T (p.Gly826Val) c.788G>T (p.Gly263Val) | |
| 1 | g.99884434A= | CA1183930583 | AGL | c.2529A= (p.Gly843=) n.2740A= c.2481A= (p.Gly827=) c.2478A= (p.Gly826=) c.789A= (p.Gly263=) | |
| 1 | g.99884434A>C | CA419314325 | AGL | c.2529A>C (p.Gly843=) n.2740A>C c.2481A>C (p.Gly827=) c.2478A>C (p.Gly826=) c.789A>C (p.Gly263=) | |
| 1 | g.99884434A>G | CA419314326 | AGL | c.2529A>G (p.Gly843=) n.2740A>G c.2481A>G (p.Gly827=) c.2478A>G (p.Gly826=) c.789A>G (p.Gly263=) | |
| 1 | g.99884434A>T | CA419314327 | AGL | c.2529A>T (p.Gly843=) n.2740A>T c.2481A>T (p.Gly827=) c.2478A>T (p.Gly826=) c.789A>T (p.Gly263=) | dbSNP gnomAD v2 |
| 1 | g.99884435dup | CA2580063438 | AGL | c.2530dup (p.Ser844LysfsTer8) n.2741dup c.2482dup (p.Ser828LysfsTer8) c.2479dup (p.Ser827LysfsTer8) c.790dup (p.Ser264LysfsTer8) | ClinVar |
| 1 | g.99884435A>C | CA341321394 | AGL | c.2530A>C (p.Ser844Arg) n.2741A>C c.2482A>C (p.Ser828Arg) c.2479A>C (p.Ser827Arg) c.790A>C (p.Ser264Arg) | |
| 1 | g.99884435A>G | CA341321395 | AGL | c.2530A>G (p.Ser844Gly) n.2741A>G c.2482A>G (p.Ser828Gly) c.2479A>G (p.Ser827Gly) c.790A>G (p.Ser264Gly) | |
| 1 | g.99884435A>T | CA341321397 | AGL | c.2530A>T (p.Ser844Cys) n.2741A>T c.2482A>T (p.Ser828Cys) c.2479A>T (p.Ser827Cys) c.790A>T (p.Ser264Cys) | |
| 1 | g.99884436G>A | CA341321400 | AGL | c.2531G>A (p.Ser844Asn) n.2742G>A c.2483G>A (p.Ser828Asn) c.2480G>A (p.Ser827Asn) c.791G>A (p.Ser264Asn) | gnomAD v4 |
| 1 | g.99884436G>C | CA341321402 | AGL | c.2531G>C (p.Ser844Thr) n.2742G>C c.2483G>C (p.Ser828Thr) c.2480G>C (p.Ser827Thr) c.791G>C (p.Ser264Thr) | |
| 1 | g.99884436G>T | CA341321401 | AGL | c.2531G>T (p.Ser844Ile) n.2742G>T c.2483G>T (p.Ser828Ile) c.2480G>T (p.Ser827Ile) c.791G>T (p.Ser264Ile) | |
| 1 | g.99884437T>A | CA341321404 | AGL | c.2532T>A (p.Ser844Arg) n.2743T>A c.2484T>A (p.Ser828Arg) c.2481T>A (p.Ser827Arg) c.792T>A (p.Ser264Arg) | |
| 1 | g.99884437T>C | CA419314328 | AGL | c.2532T>C (p.Ser844=) n.2743T>C c.2484T>C (p.Ser828=) c.2481T>C (p.Ser827=) c.792T>C (p.Ser264=) | |
| 1 | g.99884437T>G | CA341321405 | AGL | c.2532T>G (p.Ser844Arg) n.2743T>G c.2484T>G (p.Ser828Arg) c.2481T>G (p.Ser827Arg) c.792T>G (p.Ser264Arg) | |
| 1 | g.99884438G>A | CA341321407 | AGL | c.2533G>A (p.Val845Ile) n.2744G>A c.2485G>A (p.Val829Ile) c.2482G>A (p.Val828Ile) c.793G>A (p.Val265Ile) | |
| 1 | g.99884438G>C | CA341321409 | AGL | c.2533G>C (p.Val845Leu) n.2744G>C c.2485G>C (p.Val829Leu) c.2482G>C (p.Val828Leu) c.793G>C (p.Val265Leu) | |
| 1 | g.99884438G>T | CA341321410 | AGL | c.2533G>T (p.Val845Phe) n.2744G>T c.2485G>T (p.Val829Phe) c.2482G>T (p.Val828Phe) c.793G>T (p.Val265Phe) | |
| 1 | g.99884439T>A | CA341321411 | AGL | c.2534T>A (p.Val845Asp) n.2745T>A c.2486T>A (p.Val829Asp) c.2483T>A (p.Val828Asp) c.794T>A (p.Val265Asp) | |
| 1 | g.99884439T>C | CA341321413 | AGL | c.2534T>C (p.Val845Ala) n.2745T>C c.2486T>C (p.Val829Ala) c.2483T>C (p.Val828Ala) c.794T>C (p.Val265Ala) | dbSNP |
| 1 | g.99884439T>G | CA341321415 | AGL | c.2534T>G (p.Val845Gly) n.2745T>G c.2486T>G (p.Val829Gly) c.2483T>G (p.Val828Gly) c.794T>G (p.Val265Gly) | |
| 1 | g.99884440T>A | CA419314332 | AGL | c.2535T>A (p.Val845=) n.2746T>A c.2487T>A (p.Val829=) c.2484T>A (p.Val828=) c.795T>A (p.Val265=) | |
| 1 | g.99884440T>C | CA419314331 | AGL | c.2535T>C (p.Val845=) n.2746T>C c.2487T>C (p.Val829=) c.2484T>C (p.Val828=) c.795T>C (p.Val265=) | |
| 1 | g.99884440T>G | CA419314330 | AGL | c.2535T>G (p.Val845=) n.2746T>G c.2487T>G (p.Val829=) c.2484T>G (p.Val828=) c.795T>G (p.Val265=) | |
| 1 | g.99884441A= | CA1183930584 | AGL | c.2536A= (p.Ile846=) n.2747A= c.2488A= (p.Ile830=) c.2485A= (p.Ile829=) c.796A= (p.Ile266=) | |
| 1 | g.99884441A>C | CA341321417 | AGL | c.2536A>C (p.Ile846Leu) n.2747A>C c.2488A>C (p.Ile830Leu) c.2485A>C (p.Ile829Leu) c.796A>C (p.Ile266Leu) | |
| 1 | g.99884441A>G | CA966809 | AGL | c.2536A>G (p.Ile846Val) n.2747A>G c.2488A>G (p.Ile830Val) c.2485A>G (p.Ile829Val) c.796A>G (p.Ile266Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884441A>T | CA341321419 | AGL | c.2536A>T (p.Ile846Phe) n.2747A>T c.2488A>T (p.Ile830Phe) c.2485A>T (p.Ile829Phe) c.796A>T (p.Ile266Phe) | |
| 1 | g.99884442T>A | CA341321421 | AGL | c.2537T>A (p.Ile846Asn) n.2748T>A c.2489T>A (p.Ile830Asn) c.2486T>A (p.Ile829Asn) c.797T>A (p.Ile266Asn) | |
| 1 | g.99884442T>C | CA341321423 | AGL | c.2537T>C (p.Ile846Thr) n.2748T>C c.2489T>C (p.Ile830Thr) c.2486T>C (p.Ile829Thr) c.797T>C (p.Ile266Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884442T>G | CA341321424 | AGL | c.2537T>G (p.Ile846Ser) n.2748T>G c.2489T>G (p.Ile830Ser) c.2486T>G (p.Ile829Ser) c.797T>G (p.Ile266Ser) | |
| 1 | g.99884442T= | CA1183930585 | AGL | c.2537T= (p.Ile846=) n.2748T= c.2489T= (p.Ile830=) c.2486T= (p.Ile829=) c.797T= (p.Ile266=) | |
| 1 | g.99884443dup | CA16040837 | AGL | c.2538dup (p.Ile847TyrfsTer5) n.2749dup c.2490dup (p.Ile831TyrfsTer5) c.2487dup (p.Ile830TyrfsTer5) c.798dup (p.Ile267TyrfsTer5) | ClinVar dbSNP |
| 1 | g.99884443T>A | CA419314337 | AGL | c.2538T>A (p.Ile846=) n.2749T>A c.2490T>A (p.Ile830=) c.2487T>A (p.Ile829=) c.798T>A (p.Ile266=) | |
| 1 | g.99884443T>C | CA419314336 | AGL | c.2538T>C (p.Ile846=) n.2749T>C c.2490T>C (p.Ile830=) c.2487T>C (p.Ile829=) c.798T>C (p.Ile266=) | |
| 1 | g.99884443T>G | CA341321426 | AGL | c.2538T>G (p.Ile846Met) n.2749T>G c.2490T>G (p.Ile830Met) c.2487T>G (p.Ile829Met) c.798T>G (p.Ile266Met) | |
| 1 | g.99884444A>C | CA341321428 | AGL | c.2539A>C (p.Ile847Leu) n.2750A>C c.2491A>C (p.Ile831Leu) c.2488A>C (p.Ile830Leu) c.799A>C (p.Ile267Leu) | |
| 1 | g.99884444A>G | CA341321432 | AGL | c.2539A>G (p.Ile847Val) n.2750A>G c.2491A>G (p.Ile831Val) c.2488A>G (p.Ile830Val) c.799A>G (p.Ile267Val) | |
| 1 | g.99884444A>T | CA341321430 | AGL | c.2539A>T (p.Ile847Leu) n.2750A>T c.2491A>T (p.Ile831Leu) c.2488A>T (p.Ile830Leu) c.799A>T (p.Ile267Leu) | gnomAD v4 |
| 1 | g.99884445T>A | CA341321433 | AGL | c.2540T>A (p.Ile847Lys) n.2751T>A c.2492T>A (p.Ile831Lys) c.2489T>A (p.Ile830Lys) c.800T>A (p.Ile267Lys) | |
| 1 | g.99884445T>C | CA341321434 | AGL | c.2540T>C (p.Ile847Thr) n.2751T>C c.2492T>C (p.Ile831Thr) c.2489T>C (p.Ile830Thr) c.800T>C (p.Ile267Thr) | |
| 1 | g.99884445T>G | CA341321435 | AGL | c.2540T>G (p.Ile847Arg) n.2751T>G c.2492T>G (p.Ile831Arg) c.2489T>G (p.Ile830Arg) c.800T>G (p.Ile267Arg) | |
| 1 | g.99884446A>C | CA419314340 | AGL | c.2541A>C (p.Ile847=) n.2752A>C c.2493A>C (p.Ile831=) c.2490A>C (p.Ile830=) c.801A>C (p.Ile267=) | |
| 1 | g.99884446A>G | CA341321437 | AGL | c.2541A>G (p.Ile847Met) n.2752A>G c.2493A>G (p.Ile831Met) c.2490A>G (p.Ile830Met) c.801A>G (p.Ile267Met) | |
| 1 | g.99884446A>T | CA419314342 | AGL | c.2541A>T (p.Ile847=) n.2752A>T c.2493A>T (p.Ile831=) c.2490A>T (p.Ile830=) c.801A>T (p.Ile267=) | |
| 1 | g.99884447T>A | CA341321439 | AGL | c.2542T>A (p.Phe848Ile) n.2753T>A c.2494T>A (p.Phe832Ile) c.2491T>A (p.Phe831Ile) c.802T>A (p.Phe268Ile) | |
| 1 | g.99884447T>C | CA341321441 | AGL | c.2542T>C (p.Phe848Leu) n.2753T>C c.2494T>C (p.Phe832Leu) c.2491T>C (p.Phe831Leu) c.802T>C (p.Phe268Leu) | |
| 1 | g.99884447T>G | CA341321442 | AGL | c.2542T>G (p.Phe848Val) n.2753T>G c.2494T>G (p.Phe832Val) c.2491T>G (p.Phe831Val) c.802T>G (p.Phe268Val) | |
| 1 | g.99884448T>A | CA341321444 | AGL | c.2543T>A (p.Phe848Tyr) n.2754T>A c.2495T>A (p.Phe832Tyr) c.2492T>A (p.Phe831Tyr) c.803T>A (p.Phe268Tyr) | |
| 1 | g.99884448T>C | CA341321445 | AGL | c.2543T>C (p.Phe848Ser) n.2754T>C c.2495T>C (p.Phe832Ser) c.2492T>C (p.Phe831Ser) c.803T>C (p.Phe268Ser) | |
| 1 | g.99884448T>G | CA341321447 | AGL | c.2543T>G (p.Phe848Cys) n.2754T>G c.2495T>G (p.Phe832Cys) c.2492T>G (p.Phe831Cys) c.803T>G (p.Phe268Cys) | |
| 1 | g.99884449C>A | CA341321451 | AGL | c.2544C>A (p.Phe848Leu) n.2755C>A c.2496C>A (p.Phe832Leu) c.2493C>A (p.Phe831Leu) c.804C>A (p.Phe268Leu) | |
| 1 | g.99884449C>G | CA341321449 | AGL | c.2544C>G (p.Phe848Leu) n.2755C>G c.2496C>G (p.Phe832Leu) c.2493C>G (p.Phe831Leu) c.804C>G (p.Phe268Leu) | |
| 1 | g.99884449C>T | CA419314344 | AGL | c.2544C>T (p.Phe848=) n.2755C>T c.2496C>T (p.Phe832=) c.2493C>T (p.Phe831=) c.804C>T (p.Phe268=) | |
| 1 | g.99884450A= | CA1143597374 | AGL | c.2545A= (p.Arg849=) n.2756A= c.2497A= (p.Arg833=) c.2494A= (p.Arg832=) c.805A= (p.Arg269=) | |
| 1 | g.99884450A>C | CA419314346 | AGL | c.2545A>C (p.Arg849=) n.2756A>C c.2497A>C (p.Arg833=) c.2494A>C (p.Arg832=) c.805A>C (p.Arg269=) | |
| 1 | g.99884450A>G | CA966810 | AGL | c.2545A>G (p.Arg849Gly) n.2756A>G c.2497A>G (p.Arg833Gly) c.2494A>G (p.Arg832Gly) c.805A>G (p.Arg269Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884450A>T | CA341321453 | AGL | c.2545A>T (p.Arg849Ter) n.2756A>T c.2497A>T (p.Arg833Ter) c.2494A>T (p.Arg832Ter) c.805A>T (p.Arg269Ter) | |
| 1 | g.99884451G>A | CA341321455 | AGL | c.2546G>A (p.Arg849Lys) n.2757G>A c.2498G>A (p.Arg833Lys) c.2495G>A (p.Arg832Lys) c.806G>A (p.Arg269Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99884451G>C | CA341321457 | AGL | c.2546G>C (p.Arg849Thr) n.2757G>C c.2498G>C (p.Arg833Thr) c.2495G>C (p.Arg832Thr) c.806G>C (p.Arg269Thr) | |
| 1 | g.99884451G= | CA1183930586 | AGL | c.2546G= (p.Arg849=) n.2757G= c.2498G= (p.Arg833=) c.2495G= (p.Arg832=) c.806G= (p.Arg269=) | |
| 1 | g.99884451G>T | CA341321459 | AGL | c.2546G>T (p.Arg849Ile) n.2757G>T c.2498G>T (p.Arg833Ile) c.2495G>T (p.Arg832Ile) c.806G>T (p.Arg269Ile) | |
| 1 | g.99884452G>A | CA341321461 | AGL | c.2546+1G>A (n.2546+1G>A) n.2757+1G>A c.2498+1G>A (n.2498+1G>A) c.2495+1G>A (n.2495+1G>A) c.806+1G>A (n.806+1G>A) | ClinVar dbSNP |
| 1 | g.99884452G>C | CA341321463 | AGL | c.2546+1G>C (n.2546+1G>C) n.2757+1G>C c.2498+1G>C (n.2498+1G>C) c.2495+1G>C (n.2495+1G>C) c.806+1G>C (n.806+1G>C) | |
| 1 | g.99884452G= | CA1183930587 | AGL | c.2546+1G= (n.2546+1G=) n.2757+1G= c.2498+1G= (n.2498+1G=) c.2495+1G= (n.2495+1G=) c.806+1G= (n.806+1G=) | |
| 1 | g.99884452G>T | CA341321465 | AGL | c.2546+1G>T (n.2546+1G>T) n.2757+1G>T c.2498+1G>T (n.2498+1G>T) c.2495+1G>T (n.2495+1G>T) c.806+1G>T (n.806+1G>T) | ClinVar |
| 1 | g.99884453del | CA2744755774 | AGL | c.2546+2del (n.2546+2del) n.2757+2del c.2498+2del (n.2498+2del) c.2495+2del (n.2495+2del) c.806+2del (n.806+2del) | |
| 1 | g.99884453T>A | CA341321467 | AGL | c.2546+2T>A (n.2546+2T>A) n.2757+2T>A c.2498+2T>A (n.2498+2T>A) c.2495+2T>A (n.2495+2T>A) c.806+2T>A (n.806+2T>A) | |
| 1 | g.99884453T>C | CA341321469 | AGL | c.2546+2T>C (n.2546+2T>C) n.2757+2T>C c.2498+2T>C (n.2498+2T>C) c.2495+2T>C (n.2495+2T>C) c.806+2T>C (n.806+2T>C) | COSMIC COSMIC |
| 1 | g.99884453T>G | CA341321471 | AGL | c.2546+2T>G (n.2546+2T>G) n.2757+2T>G c.2498+2T>G (n.2498+2T>G) c.2495+2T>G (n.2495+2T>G) c.806+2T>G (n.806+2T>G) |