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 |
|---|---|---|---|---|---|
| 17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
| 17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
| 17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
| 17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
| 17 | g.80112579G>A | CA401369262 | GAA | c.1756G>A (p.Ala586Thr) n.196G>A c.144G>A n.370G>A | |
| 17 | g.80112579G>C | CA401369264 | GAA | c.1756G>C (p.Ala586Pro) n.196G>C c.144G>C n.370G>C | |
| 17 | g.80112579G= | CA2277815035 | GAA | c.1756G= (p.Ala586=) n.196G= c.144G= n.370G= | |
| 17 | g.80112579G>T | CA294896266 | GAA | c.1756G>T (p.Ala586Ser) n.196G>T c.144G>T n.370G>T | dbSNP gnomAD v4 |
| 17 | g.80112580C>A | CA401369267 | GAA | c.1757C>A (p.Ala586Glu) n.197C>A c.145C>A n.371C>A | |
| 17 | g.80112580C= | CA2277815036 | GAA | c.1757C= (p.Ala586=) n.197C= c.145C= n.371C= | |
| 17 | g.80112580C>G | CA401369269 | GAA | c.1757C>G (p.Ala586Gly) n.197C>G c.145C>G n.371C>G | |
| 17 | g.80112580C>T | CA8815469 | GAA | c.1757C>T (p.Ala586Val) n.197C>T c.145C>T n.371C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112581G>A | CA8815470 | GAA | c.1758G>A (p.Ala586=) n.198G>A c.146G>A n.372G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112581G>C | CA502402455 | GAA | c.1758G>C (p.Ala586=) n.198G>C c.146G>C n.372G>C | gnomAD v4 |
| 17 | g.80112581G= | CA2277815037 | GAA | c.1758G= (p.Ala586=) n.198G= c.146G= n.372G= | |
| 17 | g.80112581G>T | CA502402456 | GAA | c.1758G>T (p.Ala586=) n.198G>T c.146G>T n.372G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112582C>A | CA401369277 | GAA | c.1759C>A (p.Leu587Met) n.199C>A c.147C>A n.373C>A | |
| 17 | g.80112582C>G | CA401369276 | GAA | c.1759C>G (p.Leu587Val) n.199C>G c.147C>G n.373C>G | |
| 17 | g.80112582C>T | CA502402457 | GAA | c.1759C>T (p.Leu587=) n.199C>T c.147C>T n.373C>T | |
| 17 | g.80112583T>A | CA401369280 | GAA | c.1760T>A (p.Leu587Gln) n.200T>A c.148T>A n.374T>A | |
| 17 | g.80112583T>C | CA401369282 | GAA | c.1760T>C (p.Leu587Pro) n.200T>C c.148T>C n.374T>C | |
| 17 | g.80112583T>G | CA401369284 | GAA | c.1760T>G (p.Leu587Arg) n.200T>G c.148T>G n.374T>G | |
| 17 | g.80112583_80112588delinsTGGTGA | CA2277815038 | GAA | c.1760_1765delinsTGGTGA (p.Leu587=) n.200_205delinsTGGTGA c.148_153delinsTGGTGA n.374_379delinsTGGTGA | |
| 17 | g.80112584G>A | CA502402458 | GAA | c.1761G>A (p.Leu587=) n.201G>A c.149G>A n.375G>A | gnomAD v4 |
| 17 | g.80112584G>C | CA502402459 | GAA | c.1761G>C (p.Leu587=) n.201G>C c.149G>C n.375G>C | |
| 17 | g.80112584G>T | CA502402460 | GAA | c.1761G>T (p.Leu587=) n.201G>T c.149G>T n.375G>T | |
| 17 | g.80112584_80112588delinsT | CA1139665925 | GAA | c.1761_1765delinsT (p.Val588ArgfsTer9) n.201_205delinsT c.149_153delinsT n.375_379delinsT | ClinVar dbSNP |
| 17 | g.80112585G>A | CA8815471 | GAA | c.1762G>A (p.Val588Met) n.202G>A c.150G>A n.376G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.80112585G>C | CA401369289 | GAA | c.1762G>C (p.Val588Leu) n.202G>C c.150G>C n.376G>C | |
| 17 | g.80112585G= | CA2277815039 | GAA | c.1762G= (p.Val588=) n.202G= c.150G= n.376G= | |
| 17 | g.80112585G>T | CA401369290 | GAA | c.1762G>T (p.Val588Leu) n.202G>T c.150G>T n.376G>T | |
| 17 | g.80112586T>A | CA401369293 | GAA | c.1763T>A (p.Val588Glu) n.203T>A c.151T>A n.377T>A | |
| 17 | g.80112586T>C | CA401369298 | GAA | c.1763T>C (p.Val588Ala) n.203T>C c.151T>C n.377T>C | |
| 17 | g.80112586T>G | CA401369295 | GAA | c.1763T>G (p.Val588Gly) n.203T>G c.151T>G n.377T>G | gnomAD v4 |
| 17 | g.80112587G>A | CA502402465 | GAA | c.1764G>A (p.Val588=) n.204G>A c.152G>A n.378G>A | ClinVar dbSNP |
| 17 | g.80112587G>C | CA502402466 | GAA | c.1764G>C (p.Val588=) n.204G>C c.152G>C n.378G>C | |
| 17 | g.80112587G>T | CA502402467 | GAA | c.1764G>T (p.Val588=) n.204G>T c.152G>T n.378G>T | |
| 17 | g.80112588A>C | CA401369300 | GAA | c.1765A>C (p.Lys589Gln) n.205A>C c.153A>C n.379A>C | |
| 17 | g.80112588A>G | CA401369301 | GAA | c.1765A>G (p.Lys589Glu) n.205A>G c.153A>G n.379A>G | gnomAD v4 |
| 17 | g.80112588A>T | CA401369303 | GAA | c.1765A>T (p.Lys589Ter) n.205A>T c.153A>T n.379A>T | |
| 17 | g.80112589A>C | CA401369305 | GAA | c.1766A>C (p.Lys589Thr) n.206A>C c.154A>C n.380A>C | |
| 17 | g.80112589A>G | CA401369306 | GAA | c.1766A>G (p.Lys589Arg) n.206A>G c.154A>G n.380A>G | |
| 17 | g.80112589A>T | CA401369308 | GAA | c.1766A>T (p.Lys589Met) n.206A>T c.154A>T n.380A>T | |
| 17 | g.80112590G>A | CA502402470 | GAA | c.1767G>A (p.Lys589=) n.207G>A c.155G>A n.381G>A | gnomAD v4 COSMIC |
| 17 | g.80112590G>C | CA401369310 | GAA | c.1767G>C (p.Lys589Asn) n.207G>C c.155G>C n.381G>C | |
| 17 | g.80112590G>T | CA401369312 | GAA | c.1767G>T (p.Lys589Asn) n.207G>T c.155G>T n.381G>T | |
| 17 | g.80112591G>A | CA401369313 | GAA | c.1768G>A (p.Ala590Thr) n.208G>A c.156G>A n.382G>A | |
| 17 | g.80112591G>C | CA401369315 | GAA | c.1768G>C (p.Ala590Pro) n.208G>C c.156G>C n.382G>C | gnomAD v4 |
| 17 | g.80112591G>T | CA401369317 | GAA | c.1768G>T (p.Ala590Ser) n.208G>T c.156G>T n.382G>T | |
| 17 | g.80112592C>A | CA401369320 | GAA | c.1769C>A (p.Ala590Asp) n.209C>A c.157C>A n.383C>A | |
| 17 | g.80112592C>G | CA401369323 | GAA | c.1769C>G (p.Ala590Gly) n.209C>G c.157C>G n.383C>G | |
| 17 | g.80112592C>T | CA401369321 | GAA | c.1769C>T (p.Ala590Val) n.209C>T c.157C>T n.383C>T | |
| 17 | g.80112593T>A | CA502402474 | GAA | c.1770T>A (p.Ala590=) n.210T>A c.158T>A n.384T>A | |
| 17 | g.80112593T>C | CA502402473 | GAA | c.1770T>C (p.Ala590=) n.210T>C c.158T>C n.384T>C | ClinVar |
| 17 | g.80112593T>G | CA502402472 | GAA | c.1770T>G (p.Ala590=) n.210T>G c.158T>G n.384T>G | |
| 17 | g.80112594C>A | CA502402475 | GAA | c.1771C>A (p.Arg591=) n.211C>A c.159C>A n.385C>A | |
| 17 | g.80112594C= | CA2277815040 | GAA | c.1771C= (p.Arg591=) n.211C= c.159C= n.385C= | |
| 17 | g.80112594C>G | CA401369325 | GAA | c.1771C>G (p.Arg591Gly) n.211C>G c.159C>G n.385C>G | |
| 17 | g.80112594C>T | CA8815472 | GAA | c.1771C>T (p.Arg591Trp) n.211C>T c.159C>T n.385C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112595G>A | CA8815473 | GAA | c.1772G>A (p.Arg591Gln) n.212G>A c.160G>A n.386G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112595G>C | CA401369330 | GAA | c.1772G>C (p.Arg591Pro) n.212G>C c.160G>C n.386G>C | |
| 17 | g.80112595G= | CA2277815041 | GAA | c.1772G= (p.Arg591=) n.212G= c.160G= n.386G= | |
| 17 | g.80112595G>T | CA401369332 | GAA | c.1772G>T (p.Arg591Leu) n.212G>T c.160G>T n.386G>T | |
| 17 | g.80112599del | CA658795265 | GAA | c.1776del (p.Thr593HisfsTer5) n.216del c.164del n.390del | |
| 17 | g.80112596G>A | CA502402481 | GAA | c.1773G>A (p.Arg591=) n.213G>A c.161G>A n.387G>A | gnomAD v4 |
| 17 | g.80112596G>C | CA502402477 | GAA | c.1773G>C (p.Arg591=) n.213G>C c.161G>C n.387G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112596G= | CA2277815042 | GAA | c.1773G= (p.Arg591=) n.213G= c.161G= n.387G= | |
| 17 | g.80112596G>T | CA502402476 | GAA | c.1773G>T (p.Arg591=) n.213G>T c.161G>T n.387G>T | dbSNP |
| 17 | g.80112597G>A | CA401369334 | GAA | c.1774G>A (p.Gly592Arg) n.214G>A c.162G>A n.388G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112597G>C | CA401369336 | GAA | c.1774G>C (p.Gly592Arg) n.214G>C c.162G>C n.388G>C | |
| 17 | g.80112597G= | CA2277815043 | GAA | c.1774G= (p.Gly592=) n.214G= c.162G= n.388G= | |
| 17 | g.80112597G>T | CA401369338 | GAA | c.1774G>T (p.Gly592Trp) n.214G>T c.162G>T n.388G>T | |
| 17 | g.80112598G>A | CA8815474 | GAA | c.1775G>A (p.Gly592Glu) n.215G>A c.163G>A n.389G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112598G>C | CA401369341 | GAA | c.1775G>C (p.Gly592Ala) n.215G>C c.163G>C n.389G>C | |
| 17 | g.80112598G= | CA2277815044 | GAA | c.1775G= (p.Gly592=) n.215G= c.163G= n.389G= | |
| 17 | g.80112598G>T | CA401369343 | GAA | c.1775G>T (p.Gly592Val) n.215G>T c.163G>T n.389G>T | |
| 17 | g.80112599G>A | CA502402483 | GAA | c.1776G>A (p.Gly592=) n.216G>A c.164G>A n.390G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112599G>C | CA502402486 | GAA | c.1776G>C (p.Gly592=) n.216G>C c.164G>C n.390G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112599G= | CA2277815045 | GAA | c.1776G= (p.Gly592=) n.216G= c.164G= n.390G= | |
| 17 | g.80112599G>T | CA502402485 | GAA | c.1776G>T (p.Gly592=) n.216G>T c.164G>T n.390G>T | gnomAD v4 |
| 17 | g.80112600A>C | CA401369348 | GAA | c.1777A>C (p.Thr593Pro) n.217A>C c.165A>C n.391A>C | |
| 17 | g.80112600A>G | CA401369346 | GAA | c.1777A>G (p.Thr593Ala) n.217A>G c.165A>G n.391A>G | |
| 17 | g.80112600A>T | CA401369345 | GAA | c.1777A>T (p.Thr593Ser) n.217A>T c.165A>T n.391A>T | |
| 17 | g.80112602_80112603del | CA2640294366 | GAA | c.1779_1780del (p.Arg594ProfsTer?) n.219_220del c.167_168del n.393_394del | gnomAD v4 |
| 17 | g.80112601C>A | CA401369350 | GAA | c.1778C>A (p.Thr593Lys) n.218C>A c.166C>A n.392C>A | |
| 17 | g.80112601C= | CA2277815046 | GAA | c.1778C= (p.Thr593=) n.218C= c.166C= n.392C= | |
| 17 | g.80112601C>G | CA401369351 | GAA | c.1778C>G (p.Thr593Arg) n.218C>G c.166C>G n.392C>G | |
| 17 | g.80112601C>T | CA8815475 | GAA | c.1778C>T (p.Thr593Ile) n.218C>T c.166C>T n.392C>T | dbSNP ExAC gnomAD v4 |
| 17 | g.80112602A>C | CA502402487 | GAA | c.1779A>C (p.Thr593=) n.219A>C c.167A>C n.393A>C | |
| 17 | g.80112602A>G | CA502402488 | GAA | c.1779A>G (p.Thr593=) n.219A>G c.167A>G n.393A>G | gnomAD v4 |
| 17 | g.80112602A>T | CA502402489 | GAA | c.1779A>T (p.Thr593=) n.219A>T c.167A>T n.393A>T | |
| 17 | g.80112603C>A | CA401369355 | GAA | c.1780C>A (p.Arg594Ser) n.220C>A c.168C>A n.394C>A | gnomAD v4 |
| 17 | g.80112603C= | CA2277815047 | GAA | c.1780C= (p.Arg594=) n.220C= c.168C= n.394C= | |
| 17 | g.80112603C>G | CA401369357 | GAA | c.1780C>G (p.Arg594Gly) n.220C>G c.168C>G n.394C>G | |
| 17 | g.80112603C>T | CA401369359 | GAA | c.1780C>T (p.Arg594Cys) n.220C>T c.168C>T n.394C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112604G>A | CA8815477 | GAA | c.1781G>A (p.Arg594His) n.221G>A c.169G>A n.395G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112604G>C | CA8815476 | GAA | c.1781G>C (p.Arg594Pro) n.221G>C c.169G>C n.395G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112604G= | CA2277815048 | GAA | c.1781G= (p.Arg594=) n.221G= c.169G= n.395G= | |
| 17 | g.80112604G>T | CA401369363 | GAA | c.1781G>T (p.Arg594Leu) n.221G>T c.169G>T n.395G>T | |
| 17 | g.80112605C>A | CA502402494 | GAA | c.1782C>A (p.Arg594=) n.222C>A c.170C>A n.396C>A | ClinVar |
| 17 | g.80112605C>G | CA502402495 | GAA | c.1782C>G (p.Arg594=) n.222C>G c.170C>G n.396C>G | |
| 17 | g.80112605C>T | CA502402496 | GAA | c.1782C>T (p.Arg594=) n.222C>T c.170C>T n.396C>T | ClinVar |
| 17 | g.80112606C>A | CA401369365 | GAA | c.1783C>A (p.Pro595Thr) n.223C>A c.171C>A n.397C>A | |
| 17 | g.80112606C>G | CA401369367 | GAA | c.1783C>G (p.Pro595Ala) n.223C>G c.171C>G n.397C>G | |
| 17 | g.80112606C>T | CA401369369 | GAA | c.1783C>T (p.Pro595Ser) n.223C>T c.171C>T n.397C>T | |
| 17 | g.80112607C>A | CA401369373 | GAA | c.1784C>A (p.Pro595Gln) n.224C>A c.172C>A n.398C>A | |
| 17 | g.80112607C= | CA2277815049 | GAA | c.1784C= (p.Pro595=) n.224C= c.172C= n.398C= | |
| 17 | g.80112607C>G | CA401369371 | GAA | c.1784C>G (p.Pro595Arg) n.224C>G c.172C>G n.398C>G | dbSNP |
| 17 | g.80112607C>T | CA8815478 | GAA | c.1784C>T (p.Pro595Leu) n.224C>T c.172C>T n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112608A>C | CA502402497 | GAA | c.1785A>C (p.Pro595=) n.225A>C c.173A>C n.399A>C | |
| 17 | g.80112608A>G | CA502402500 | GAA | c.1785A>G (p.Pro595=) n.225A>G c.173A>G n.399A>G | |
| 17 | g.80112608A>T | CA502402501 | GAA | c.1785A>T (p.Pro595=) n.225A>T c.173A>T n.399A>T | |
| 17 | g.80112609T>A | CA401369375 | GAA | c.1786T>A (p.Phe596Ile) n.226T>A c.174T>A n.400T>A | |
| 17 | g.80112609T>C | CA401369378 | GAA | c.1786T>C (p.Phe596Leu) n.226T>C c.174T>C n.400T>C | gnomAD v4 |
| 17 | g.80112609T>G | CA401369377 | GAA | c.1786T>G (p.Phe596Val) n.226T>G c.174T>G n.400T>G | |
| 17 | g.80112610T>A | CA401369380 | GAA | c.1787T>A (p.Phe596Tyr) n.227T>A c.175T>A n.401T>A | |
| 17 | g.80112610T>C | CA401369382 | GAA | c.1787T>C (p.Phe596Ser) n.227T>C c.175T>C n.401T>C | |
| 17 | g.80112610T>G | CA401369384 | GAA | c.1787T>G (p.Phe596Cys) n.227T>G c.175T>G n.401T>G | |
| 17 | g.80112611T>A | CA401369386 | GAA | c.1788T>A (p.Phe596Leu) n.228T>A c.176T>A n.402T>A | |
| 17 | g.80112611T>C | CA502402507 | GAA | c.1788T>C (p.Phe596=) n.228T>C c.176T>C n.402T>C | |
| 17 | g.80112611T>G | CA401369387 | GAA | c.1788T>G (p.Phe596Leu) n.228T>G c.176T>G n.402T>G | |
| 17 | g.80112612G>A | CA401369388 | GAA | c.1789G>A (p.Val597Met) n.229G>A c.177G>A n.403G>A | |
| 17 | g.80112612G>C | CA401369389 | GAA | c.1789G>C (p.Val597Leu) n.229G>C c.177G>C n.403G>C | dbSNP gnomAD v4 |
| 17 | g.80112612G= | CA2277815050 | GAA | c.1789G= (p.Val597=) n.229G= c.177G= n.403G= | |
| 17 | g.80112612G>T | CA401369391 | GAA | c.1789G>T (p.Val597Leu) n.229G>T c.177G>T n.403G>T | |
| 17 | g.80112613T>A | CA401369393 | GAA | c.1790T>A (p.Val597Glu) n.230T>A c.178T>A n.404T>A | |
| 17 | g.80112613T>C | CA401369395 | GAA | c.1790T>C (p.Val597Ala) n.230T>C c.178T>C n.404T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112613T>G | CA401369397 | GAA | c.1790T>G (p.Val597Gly) n.230T>G c.178T>G n.404T>G | |
| 17 | g.80112613T= | CA2277815051 | GAA | c.1790T= (p.Val597=) n.230T= c.178T= n.404T= | |
| 17 | g.80112614G>A | CA502402514 | GAA | c.1791G>A (p.Val597=) n.231G>A c.179G>A n.405G>A | |
| 17 | g.80112614G>C | CA502402512 | GAA | c.1791G>C (p.Val597=) n.231G>C c.179G>C n.405G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112614G= | CA2277815052 | GAA | c.1791G= (p.Val597=) n.231G= c.179G= n.405G= | |
| 17 | g.80112614G>T | CA502402513 | GAA | c.1791G>T (p.Val597=) n.231G>T c.179G>T n.405G>T | |
| 17 | g.80112615A= | CA2277815053 | GAA | c.1792A= (p.Ile598=) n.232A= c.180A= n.406A= | |
| 17 | g.80112615A>C | CA401369401 | GAA | c.1792A>C (p.Ile598Leu) n.232A>C c.180A>C n.406A>C | |
| 17 | g.80112615A>G | CA294896305 | GAA | c.1792A>G (p.Ile598Val) n.232A>G c.180A>G n.406A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112615A>T | CA401369399 | GAA | c.1792A>T (p.Ile598Phe) n.232A>T c.180A>T n.406A>T | |
| 17 | g.80112616T>A | CA401369403 | GAA | c.1793T>A (p.Ile598Asn) n.233T>A c.181T>A n.407T>A | |
| 17 | g.80112616T>C | CA401369404 | GAA | c.1793T>C (p.Ile598Thr) n.233T>C c.181T>C n.407T>C | |
| 17 | g.80112616T>G | CA401369405 | GAA | c.1793T>G (p.Ile598Ser) n.233T>G c.181T>G n.407T>G | |
| 17 | g.80112617C>A | CA502402515 | GAA | c.1794C>A (p.Ile598=) n.234C>A c.182C>A n.408C>A | |
| 17 | g.80112617C= | CA2277815054 | GAA | c.1794C= (p.Ile598=) n.234C= c.182C= n.408C= | |
| 17 | g.80112617C>G | CA401369408 | GAA | c.1794C>G (p.Ile598Met) n.234C>G c.182C>G n.408C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112617C>T | CA502402517 | GAA | c.1794C>T (p.Ile598=) n.234C>T c.182C>T n.408C>T | |
| 17 | g.80112618T>A | CA401369409 | GAA | c.1795T>A (p.Ser599Thr) n.235T>A c.183T>A n.409T>A | |
| 17 | g.80112618T>C | CA401369410 | GAA | c.1795T>C (p.Ser599Pro) n.235T>C c.183T>C n.409T>C | dbSNP gnomAD v2 |
| 17 | g.80112618T>G | CA401369412 | GAA | c.1795T>G (p.Ser599Ala) n.235T>G c.183T>G n.409T>G | |
| 17 | g.80112618T= | CA2277815055 | GAA | c.1795T= (p.Ser599=) n.235T= c.183T= n.409T= | |
| 17 | g.80112619C>A | CA8815479 | GAA | c.1796C>A (p.Ser599Tyr) n.236C>A c.184C>A n.410C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112619C= | CA2277815056 | GAA | c.1796C= (p.Ser599=) n.236C= c.184C= n.410C= | |
| 17 | g.80112619C>G | CA401369415 | GAA | c.1796C>G (p.Ser599Cys) n.236C>G c.184C>G n.410C>G | |
| 17 | g.80112619C>T | CA401369417 | GAA | c.1796C>T (p.Ser599Phe) n.236C>T c.184C>T n.410C>T | |
| 17 | g.80112621del | CA2695200357 | GAA | c.1798del (p.Arg600AlafsTer?) n.238del c.186del n.412del | ClinVar |
| 17 | g.80112620C>A | CA8815480 | GAA | c.1797C>A (p.Ser599=) n.237C>A c.185C>A n.411C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112620C= | CA2277815057 | GAA | c.1797C= (p.Ser599=) n.237C= c.185C= n.411C= | |
| 17 | g.80112620C>G | CA502402522 | GAA | c.1797C>G (p.Ser599=) n.237C>G c.185C>G n.411C>G | |
| 17 | g.80112620C>T | CA502402523 | GAA | c.1797C>T (p.Ser599=) n.237C>T c.185C>T n.411C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112621C>A | CA401369424 | GAA | c.1798C>A (p.Arg600Ser) n.238C>A c.186C>A n.412C>A | |
| 17 | g.80112621C= | CA2277815058 | GAA | c.1798C= (p.Arg600=) n.238C= c.186C= n.412C= | |
| 17 | g.80112621C>G | CA401369421 | GAA | c.1798C>G (p.Arg600Gly) n.238C>G c.186C>G n.412C>G | ClinVar dbSNP |
| 17 | g.80112621C>T | CA8815481 | GAA | c.1798C>T (p.Arg600Cys) n.238C>T c.186C>T n.412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112622G>A | CA8815482 | GAA | c.1799G>A (p.Arg600His) n.239G>A c.187G>A n.413G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.80112622G>C | CA401369427 | GAA | c.1799G>C (p.Arg600Pro) n.239G>C c.187G>C n.413G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112622G= | CA2277815059 | GAA | c.1799G= (p.Arg600=) n.239G= c.187G= n.413G= | |
| 17 | g.80112622G>T | CA401369428 | GAA | c.1799G>T (p.Arg600Leu) n.239G>T c.187G>T n.413G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112623C>A | CA502402527 | GAA | c.1800C>A (p.Arg600=) n.240C>A c.188C>A n.414C>A | |
| 17 | g.80112623C= | CA2277815060 | GAA | c.1800C= (p.Arg600=) n.240C= c.188C= n.414C= | |
| 17 | g.80112623C>G | CA502402528 | GAA | c.1800C>G (p.Arg600=) n.240C>G c.188C>G n.414C>G | |
| 17 | g.80112623C>T | CA502402529 | GAA | c.1800C>T (p.Arg600=) n.240C>T c.188C>T n.414C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112624T>A | CA401369430 | GAA | c.1801T>A (p.Ser601Thr) n.241T>A c.189T>A n.415T>A | |
| 17 | g.80112624T>C | CA401369432 | GAA | c.1801T>C (p.Ser601Pro) n.241T>C c.189T>C n.415T>C | |
| 17 | g.80112624T>G | CA401369434 | GAA | c.1801T>G (p.Ser601Ala) n.241T>G c.189T>G n.415T>G | |
| 17 | g.80112625C>A | CA401369436 | GAA | c.1802C>A (p.Ser601Ter) n.242C>A c.190C>A n.416C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112625C= | CA2277815061 | GAA | c.1802C= (p.Ser601=) n.242C= c.190C= n.416C= | |
| 17 | g.80112625C>G | CA294896338 | GAA | c.1802C>G (p.Ser601Trp) n.242C>G c.190C>G n.416C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112625C>T | CA274982 | GAA | c.1802C>T (p.Ser601Leu) n.242C>T c.190C>T n.416C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112626G>A | CA8815483 | GAA | c.1803G>A (p.Ser601=) n.243G>A c.191G>A n.417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112626G>C | CA502402531 | GAA | c.1803G>C (p.Ser601=) n.243G>C c.191G>C n.417G>C | |
| 17 | g.80112626G= | CA2277815062 | GAA | c.1803G= (p.Ser601=) n.243G= c.191G= n.417G= | |
| 17 | g.80112626G>T | CA294896363 | GAA | c.1803G>T (p.Ser601=) n.243G>T c.191G>T n.417G>T | ClinVar dbSNP |
| 17 | g.80112627A= | CA2277815063 | GAA | c.1804A= (p.Thr602=) n.244A= c.192A= n.418A= | |
| 17 | g.80112627A>C | CA401369439 | GAA | c.1804A>C (p.Thr602Pro) n.244A>C c.192A>C n.418A>C | |
| 17 | g.80112627A>G | CA8815484 | GAA | c.1804A>G (p.Thr602Ala) n.244A>G c.192A>G n.418A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112627A>T | CA401369441 | GAA | c.1804A>T (p.Thr602Ser) n.244A>T c.192A>T n.418A>T | |
| 17 | g.80112628C>A | CA401369447 | GAA | c.1805C>A (p.Thr602Asn) n.245C>A c.193C>A n.419C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112628C= | CA2277815064 | GAA | c.1805C= (p.Thr602=) n.245C= c.193C= n.419C= | |
| 17 | g.80112628C>G | CA8815485 | GAA | c.1805C>G (p.Thr602Ser) n.245C>G c.193C>G n.419C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112628C>T | CA401369445 | GAA | c.1805C>T (p.Thr602Ile) n.245C>T c.193C>T n.419C>T | ClinVar gnomAD v4 |
| 17 | g.80112629C>A | CA502402538 | GAA | c.1806C>A (p.Thr602=) n.246C>A c.194C>A n.420C>A | ClinVar dbSNP |
| 17 | g.80112629C= | CA2277815065 | GAA | c.1806C= (p.Thr602=) n.246C= c.194C= n.420C= | |
| 17 | g.80112629C>G | CA502402539 | GAA | c.1806C>G (p.Thr602=) n.246C>G c.194C>G n.420C>G | |
| 17 | g.80112629C>T | CA502402540 | GAA | c.1806C>T (p.Thr602=) n.246C>T c.194C>T n.420C>T | |
| 17 | g.80112630T>A | CA401369449 | GAA | c.1807T>A (p.Phe603Ile) n.247T>A c.195T>A n.421T>A | dbSNP |
| 17 | g.80112630T>C | CA401369451 | GAA | c.1807T>C (p.Phe603Leu) n.247T>C c.195T>C n.421T>C | |
| 17 | g.80112630T>G | CA401369453 | GAA | c.1807T>G (p.Phe603Val) n.247T>G c.195T>G n.421T>G | |
| 17 | g.80112630T= | CA2277815066 | GAA | c.1807T= (p.Phe603=) n.247T= c.195T= n.421T= | |
| 17 | g.80112632del | CA2573154983 | GAA | c.1809del (p.Phe603LeufsTer?) n.249del c.197del n.423del | ClinVar dbSNP |
| 17 | g.80112631T>A | CA401369455 | GAA | c.1808T>A (p.Phe603Tyr) n.248T>A c.196T>A n.422T>A | |
| 17 | g.80112631T>C | CA401369456 | GAA | c.1808T>C (p.Phe603Ser) n.248T>C c.196T>C n.422T>C | |
| 17 | g.80112631T>G | CA401369458 | GAA | c.1808T>G (p.Phe603Cys) n.248T>G c.196T>G n.422T>G | |
| 17 | g.80112632T>A | CA401369460 | GAA | c.1809T>A (p.Phe603Leu) n.249T>A c.197T>A n.423T>A | |
| 17 | g.80112632T>C | CA502402545 | GAA | c.1809T>C (p.Phe603=) n.249T>C c.197T>C n.423T>C | |
| 17 | g.80112632T>G | CA401369462 | GAA | c.1809T>G (p.Phe603Leu) n.249T>G c.197T>G n.423T>G | |
| 17 | g.80112633G>A | CA401369464 | GAA | c.1810G>A (p.Ala604Thr) n.250G>A c.198G>A n.424G>A | |
| 17 | g.80112633G>C | CA401369466 | GAA | c.1810G>C (p.Ala604Pro) n.250G>C c.198G>C n.424G>C | |
| 17 | g.80112633G>T | CA401369468 | GAA | c.1810G>T (p.Ala604Ser) n.250G>T c.198G>T n.424G>T | |
| 17 | g.80112635_80112652del | CA2640294606 | GAA | c.1812_1829del (p.Gly605_Ala610del) n.252_269del c.200_217del n.426_443del | dbSNP gnomAD v4 |
| 17 | g.80112634C>A | CA401369475 | GAA | c.1811C>A (p.Ala604Asp) n.251C>A c.199C>A n.425C>A | |
| 17 | g.80112634C>G | CA401369473 | GAA | c.1811C>G (p.Ala604Gly) n.251C>G c.199C>G n.425C>G | |
| 17 | g.80112634C>T | CA401369470 | GAA | c.1811C>T (p.Ala604Val) n.251C>T c.199C>T n.425C>T | |
| 17 | g.80112635T>A | CA502402546 | GAA | c.1812T>A (p.Ala604=) n.252T>A c.200T>A n.426T>A | |
| 17 | g.80112635T>C | CA502402547 | GAA | c.1812T>C (p.Ala604=) n.252T>C c.200T>C n.426T>C | dbSNP |
| 17 | g.80112635T>G | CA502402548 | GAA | c.1812T>G (p.Ala604=) n.252T>G c.200T>G n.426T>G | |
| 17 | g.80112635T= | CA2277815067 | GAA | c.1812T= (p.Ala604=) n.252T= c.200T= n.426T= | |
| 17 | g.80112635dup | CA913014057 | GAA | c.1812dup (p.Gly605TrpfsTer?) n.252dup c.200dup n.426dup | |
| 17 | g.80112636G>A | CA401369476 | GAA | c.1813G>A (p.Gly605Ser) n.253G>A c.201G>A n.427G>A | |
| 17 | g.80112636G>C | CA401369479 | GAA | c.1813G>C (p.Gly605Arg) n.253G>C c.201G>C n.427G>C | |
| 17 | g.80112636G>T | CA401369477 | GAA | c.1813G>T (p.Gly605Cys) n.253G>T c.201G>T n.427G>T | |
| 17 | g.80112637del | CA2580095785 | GAA | c.1814del (p.Gly605AlafsTer?) n.254del c.202del n.428del | ClinVar |
| 17 | g.80112642_80112659dup | CA658824783 | GAA | c.1819_1836dup (p.His612_Trp613insGlyArgTyrAlaGlyHis) n.259_276dup c.207_224dup n.433_450dup | ClinVar dbSNP |
| 17 | g.80112642_80112659del | CA658795266 | GAA | c.1819_1836del (p.Gly607_His612del) n.259_276del c.207_224del n.433_450del | |
| 17 | g.80112637G>A | CA401369481 | GAA | c.1814G>A (p.Gly605Asp) n.254G>A c.202G>A n.428G>A | |
| 17 | g.80112637G>C | CA401369484 | GAA | c.1814G>C (p.Gly605Ala) n.254G>C c.202G>C n.428G>C | |
| 17 | g.80112637G>T | CA401369482 | GAA | c.1814G>T (p.Gly605Val) n.254G>T c.202G>T n.428G>T | |
| 17 | g.80112638C>A | CA502402550 | GAA | c.1815C>A (p.Gly605=) n.255C>A c.203C>A n.429C>A | |
| 17 | g.80112638C= | CA2277815068 | GAA | c.1815C= (p.Gly605=) n.255C= c.203C= n.429C= | |
| 17 | g.80112638C>G | CA502402551 | GAA | c.1815C>G (p.Gly605=) n.255C>G c.203C>G n.429C>G | |
| 17 | g.80112638C>T | CA8815486 | GAA | c.1815C>T (p.Gly605=) n.255C>T c.203C>T n.429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112639C>A | CA401369489 | GAA | c.1816C>A (p.His606Asn) n.256C>A c.204C>A n.430C>A | |
| 17 | g.80112639C>G | CA401369486 | GAA | c.1816C>G (p.His606Asp) n.256C>G c.204C>G n.430C>G | |
| 17 | g.80112639C>T | CA401369487 | GAA | c.1816C>T (p.His606Tyr) n.256C>T c.204C>T n.430C>T | |
| 17 | g.80112640A= | CA2277815069 | GAA | c.1817A= (p.His606=) n.257A= c.205A= n.431A= | |
| 17 | g.80112640A>C | CA401369491 | GAA | c.1817A>C (p.His606Pro) n.257A>C c.205A>C n.431A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112640A>G | CA401369493 | GAA | c.1817A>G (p.His606Arg) n.257A>G c.205A>G n.431A>G | gnomAD v4 |
| 17 | g.80112640A>T | CA401369495 | GAA | c.1817A>T (p.His606Leu) n.257A>T c.205A>T n.431A>T | |
| 17 | g.80112641C>A | CA294896378 | GAA | c.1818C>A (p.His606Gln) n.258C>A c.206C>A n.432C>A | dbSNP |
| 17 | g.80112641C= | CA2277815070 | GAA | c.1818C= (p.His606=) n.258C= c.206C= n.432C= | |
| 17 | g.80112641C>G | CA401369497 | GAA | c.1818C>G (p.His606Gln) n.258C>G c.206C>G n.432C>G | |
| 17 | g.80112641C>T | CA8815487 | GAA | c.1818C>T (p.His606=) n.258C>T c.206C>T n.432C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112642G>A | CA294896390 | GAA | c.1819G>A (p.Gly607Ser) n.259G>A c.207G>A n.433G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112642G>C | CA401369502 | GAA | c.1819G>C (p.Gly607Arg) n.259G>C c.207G>C n.433G>C | |
| 17 | g.80112642G= | CA2277815071 | GAA | c.1819G= (p.Gly607=) n.259G= c.207G= n.433G= | |
| 17 | g.80112642G>T | CA401369504 | GAA | c.1819G>T (p.Gly607Cys) n.259G>T c.207G>T n.433G>T | ClinVar dbSNP |
| 17 | g.80112643G>A | CA401369511 | GAA | c.1820G>A (p.Gly607Asp) n.260G>A c.208G>A n.434G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112643G>C | CA401369507 | GAA | c.1820G>C (p.Gly607Ala) n.260G>C c.208G>C n.434G>C | |
| 17 | g.80112643G= | CA2277815072 | GAA | c.1820G= (p.Gly607=) n.260G= c.208G= n.434G= | |
| 17 | g.80112643G>T | CA401369509 | GAA | c.1820G>T (p.Gly607Val) n.260G>T c.208G>T n.434G>T | |
| 17 | g.80112644C>A | CA502402555 | GAA | c.1821C>A (p.Gly607=) n.261C>A c.209C>A n.435C>A | |
| 17 | g.80112644C= | CA2277815073 | GAA | c.1821C= (p.Gly607=) n.261C= c.209C= n.435C= | |
| 17 | g.80112644C>G | CA502402556 | GAA | c.1821C>G (p.Gly607=) n.261C>G c.209C>G n.435C>G | |
| 17 | g.80112644C>T | CA502402557 | GAA | c.1821C>T (p.Gly607=) n.261C>T c.209C>T n.435C>T | |
| 17 | g.80112645del | CA2695227102 | GAA | c.1822del (p.Arg608AspfsTer?) n.262del c.210del n.436del | |
| 17 | g.80112645C>A | CA502402558 | GAA | c.1822C>A (p.Arg608=) n.262C>A c.210C>A n.436C>A | |
| 17 | g.80112645C= | CA2277815075 | GAA | c.1822C= (p.Arg608=) n.262C= c.210C= n.436C= | |
| 17 | g.80112645C>G | CA401369512 | GAA | c.1822C>G (p.Arg608Gly) n.262C>G c.210C>G n.436C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112645C>T | CA8815488 | GAA | c.1822C>T (p.Arg608Ter) n.262C>T c.210C>T n.436C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112647_80112651dup | CA16041896 | GAA | c.1824_1828dup (p.Ala610AspfsTer?) n.264_268dup c.212_216dup n.438_442dup | ClinVar dbSNP |
| 17 | g.80112646G>A | CA8815489 | GAA | c.1823G>A (p.Arg608Gln) n.263G>A c.211G>A n.437G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112646G>C | CA401369519 | GAA | c.1823G>C (p.Arg608Pro) n.263G>C c.211G>C n.437G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112646G= | CA2277815076 | GAA | c.1823G= (p.Arg608=) n.263G= c.211G= n.437G= | |
| 17 | g.80112646G>T | CA294896401 | GAA | c.1823G>T (p.Arg608Leu) n.263G>T c.211G>T n.437G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112647A>C | CA502402562 | GAA | c.1824A>C (p.Arg608=) n.264A>C c.212A>C n.438A>C | |
| 17 | g.80112647A>G | CA502402560 | GAA | c.1824A>G (p.Arg608=) n.264A>G c.212A>G n.438A>G | |
| 17 | g.80112647A>T | CA502402561 | GAA | c.1824A>T (p.Arg608=) n.264A>T c.212A>T n.438A>T | |
| 17 | g.80112648T>A | CA401369522 | GAA | c.1825T>A (p.Tyr609Asn) n.265T>A c.213T>A n.439T>A | |
| 17 | g.80112648T>C | CA8815490 | GAA | c.1825T>C (p.Tyr609His) n.265T>C c.213T>C n.439T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112648T>G | CA401369524 | GAA | c.1825T>G (p.Tyr609Asp) n.265T>G c.213T>G n.439T>G | dbSNP |
| 17 | g.80112648T= | CA2277815078 | GAA | c.1825T= (p.Tyr609=) n.265T= c.213T= n.439T= | |
| 17 | g.80112649A= | CA2277815081 | GAA | c.1826A= (p.Tyr609=) n.266A= c.214A= n.440A= | |
| 17 | g.80112649A>C | CA401369532 | GAA | c.1826A>C (p.Tyr609Ser) n.266A>C c.214A>C n.440A>C | |
| 17 | g.80112649A>G | CA401369529 | GAA | c.1826A>G (p.Tyr609Cys) n.266A>G c.214A>G n.440A>G | gnomAD v4 |
| 17 | g.80112649A>T | CA401369527 | GAA | c.1826A>T (p.Tyr609Phe) n.266A>T c.214A>T n.440A>T | ClinVar dbSNP |
| 17 | g.80112649dup | CA274414 | GAA | c.1826dup (p.Tyr609Ter) n.266dup c.214dup n.440dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112649_80112650delinsAC | CA2277815080 | GAA | c.1826_1827delinsAC (p.Tyr609=) n.266_267delinsAC c.214_215delinsAC n.440_441delinsAC | |
| 17 | g.80112650del | CA274153 | GAA | c.1827del (p.Tyr609Ter) n.267del c.215del n.441del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112650C>A | CA401369533 | GAA | c.1827C>A (p.Tyr609Ter) n.267C>A c.215C>A n.441C>A | ClinVar gnomAD v4 |
| 17 | g.80112650C= | CA2277815084 | GAA | c.1827C= (p.Tyr609=) n.267C= c.215C= n.441C= | |
| 17 | g.80112650C>G | CA401369534 | GAA | c.1827C>G (p.Tyr609Ter) n.267C>G c.215C>G n.441C>G | ClinVar gnomAD v4 |
| 17 | g.80112650C>T | CA8815491 | GAA | c.1827C>T (p.Tyr609=) n.267C>T c.215C>T n.441C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112650_80112651insA | CA502402567 | GAA | c.1827_1828insA (p.Ala610SerfsTer26) c.1827_1828insA (p.Ala610SerfsTer?) n.267_268insA c.215_216insA n.441_442insA | |
| 17 | g.80112651G>A | CA8815492 | GAA | c.1828G>A (p.Ala610Thr) n.268G>A c.216G>A n.442G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112651G>C | CA401369539 | GAA | c.1828G>C (p.Ala610Pro) n.268G>C c.216G>C n.442G>C | |
| 17 | g.80112651G= | CA2277815087 | GAA | c.1828G= (p.Ala610=) n.268G= c.216G= n.442G= | |
| 17 | g.80112651G>T | CA401369541 | GAA | c.1828G>T (p.Ala610Ser) n.268G>T c.216G>T n.442G>T | |
| 17 | g.80112652C>A | CA401369542 | GAA | c.1829C>A (p.Ala610Asp) n.269C>A c.217C>A n.443C>A | |
| 17 | g.80112652C= | CA2277815088 | GAA | c.1829C= (p.Ala610=) n.269C= c.217C= n.443C= | |
| 17 | g.80112652C>G | CA401369544 | GAA | c.1829C>G (p.Ala610Gly) n.269C>G c.217C>G n.443C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112652C>T | CA401369546 | GAA | c.1829C>T (p.Ala610Val) n.269C>T c.217C>T n.443C>T | gnomAD v4 |
| 17 | g.80112653C>A | CA502402568 | GAA | c.1830C>A (p.Ala610=) n.270C>A c.218C>A n.444C>A | ClinVar gnomAD v4 |
| 17 | g.80112653C= | CA2277815090 | GAA | c.1830C= (p.Ala610=) n.270C= c.218C= n.444C= | |
| 17 | g.80112653C>G | CA502402570 | GAA | c.1830C>G (p.Ala610=) n.270C>G c.218C>G n.444C>G | dbSNP |
| 17 | g.80112653C>T | CA8815493 | GAA | c.1830C>T (p.Ala610=) n.270C>T c.218C>T n.444C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112654G>A | CA401369553 | GAA | c.1831G>A (p.Gly611Ser) n.271G>A c.219G>A n.445G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112654G>C | CA401369549 | GAA | c.1831G>C (p.Gly611Arg) n.271G>C c.219G>C n.445G>C | |
| 17 | g.80112654G= | CA2277815092 | GAA | c.1831G= (p.Gly611=) n.271G= c.219G= n.445G= | |
| 17 | g.80112654G>T | CA401369551 | GAA | c.1831G>T (p.Gly611Cys) n.271G>T c.219G>T n.445G>T | |
| 17 | g.80112656_80112662del | CA913184757 | GAA | c.1833_1839del (p.His612ArgfsTer?) n.273_279del c.221_227del n.447_453del | |
| 17 | g.80112655G>A | CA16041897 | GAA | c.1832G>A (p.Gly611Asp) n.272G>A c.220G>A n.446G>A | ClinVar dbSNP gnomAD v2 |
| 17 | g.80112655G>C | CA401369555 | GAA | c.1832G>C (p.Gly611Ala) n.272G>C c.220G>C n.446G>C | |
| 17 | g.80112655G= | CA2277815094 | GAA | c.1832G= (p.Gly611=) n.272G= c.220G= n.446G= | |
| 17 | g.80112655G>T | CA401369556 | GAA | c.1832G>T (p.Gly611Val) n.272G>T c.220G>T n.446G>T | |
| 17 | g.80112656C>A | CA502402573 | GAA | c.1833C>A (p.Gly611=) n.273C>A c.221C>A n.447C>A | |
| 17 | g.80112656C>G | CA502402574 | GAA | c.1833C>G (p.Gly611=) n.273C>G c.221C>G n.447C>G | |
| 17 | g.80112656C>T | CA502402572 | GAA | c.1833C>T (p.Gly611=) n.273C>T c.221C>T n.447C>T | ClinVar |
| 17 | g.80112656_80112670delinsACGGGGTAT | CA2695227103 | GAA | c.1833_1847delinsACGGGGTAT (p.His612_Asp616delinsArgGlyIle) n.273_287delinsACGGGGTAT c.221_235delinsACGGGGTAT n.447_461delinsACGGGGTAT | |
| 17 | g.80112657C>A | CA401369557 | GAA | c.1834C>A (p.His612Asn) n.274C>A c.222C>A n.448C>A | ClinVar dbSNP |
| 17 | g.80112657C= | CA2277815095 | GAA | c.1834C= (p.His612=) n.274C= c.222C= n.448C= | |
| 17 | g.80112657C>G | CA401369558 | GAA | c.1834C>G (p.His612Asp) n.274C>G c.222C>G n.448C>G | |
| 17 | g.80112657C>T | CA401369559 | GAA | c.1834C>T (p.His612Tyr) n.274C>T c.222C>T n.448C>T | dbSNP |
| 17 | g.80112658A= | CA2277815097 | GAA | c.1835A= (p.His612=) n.275A= c.223A= n.449A= | |
| 17 | g.80112658A>C | CA401369560 | GAA | c.1835A>C (p.His612Pro) n.275A>C c.223A>C n.449A>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112658A>G | CA8815494 | GAA | c.1835A>G (p.His612Arg) n.275A>G c.223A>G n.449A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112658A>T | CA401369562 | GAA | c.1835A>T (p.His612Leu) n.275A>T c.223A>T n.449A>T | |
| 17 | g.80112658_80112673del | CA2535645706 | GAA | c.1835_1850del (p.His612ArgfsTer?) n.275_290del c.223_238del n.449_464del | |
| 17 | g.80112659C>A | CA401369564 | GAA | c.1836C>A (p.His612Gln) n.276C>A c.224C>A n.450C>A | |
| 17 | g.80112659C= | CA2277815099 | GAA | c.1836C= (p.His612=) n.276C= c.224C= n.450C= | |
| 17 | g.80112659C>G | CA401369566 | GAA | c.1836C>G (p.His612Gln) n.276C>G c.224C>G n.450C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112659C>T | CA8815495 | GAA | c.1836C>T (p.His612=) n.276C>T c.224C>T n.450C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112660del | CA2640294752 | GAA | c.1837del (p.Trp613GlyfsTer?) n.277del c.225del n.451del | gnomAD v4 |
| 17 | g.80112660T>A | CA401369571 | GAA | c.1837T>A (p.Trp613Arg) n.277T>A c.225T>A n.451T>A | |
| 17 | g.80112660T>C | CA401369573 | GAA | c.1837T>C (p.Trp613Arg) n.277T>C c.225T>C n.451T>C | ClinVar dbSNP |
| 17 | g.80112660T>G | CA401369569 | GAA | c.1837T>G (p.Trp613Gly) n.277T>G c.225T>G n.451T>G | |
| 17 | g.80112660T= | CA2277815101 | GAA | c.1837T= (p.Trp613=) n.277T= c.225T= n.451T= | |
| 17 | g.80112661G>A | CA401369578 | GAA | c.1838G>A (p.Trp613Ter) n.278G>A c.226G>A n.452G>A | |
| 17 | g.80112661G>C | CA401369575 | GAA | c.1838G>C (p.Trp613Ser) n.278G>C c.226G>C n.452G>C | |
| 17 | g.80112661G>T | CA401369576 | GAA | c.1838G>T (p.Trp613Leu) n.278G>T c.226G>T n.452G>T | |
| 17 | g.80112662G>A | CA401369580 | GAA | c.1839G>A (p.Trp613Ter) n.279G>A c.227G>A n.453G>A | |
| 17 | g.80112662G>C | CA401369582 | GAA | c.1839G>C (p.Trp613Cys) n.279G>C c.227G>C n.453G>C | dbSNP |
| 17 | g.80112662G= | CA2277815102 | GAA | c.1839G= (p.Trp613=) n.279G= c.227G= n.453G= | |
| 17 | g.80112662G>T | CA401369584 | GAA | c.1839G>T (p.Trp613Cys) n.279G>T c.227G>T n.453G>T | |
| 17 | g.80112663A>C | CA401369586 | GAA | c.1840A>C (p.Thr614Pro) n.280A>C c.228A>C n.454A>C | |
| 17 | g.80112663A>G | CA401369588 | GAA | c.1840A>G (p.Thr614Ala) n.280A>G c.228A>G n.454A>G | |
| 17 | g.80112663A>T | CA401369589 | GAA | c.1840A>T (p.Thr614Ser) n.280A>T c.228A>T n.454A>T | |
| 17 | g.80112664C>A | CA234050 | GAA | c.1841C>A (p.Thr614Lys) n.281C>A c.229C>A n.455C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112664C= | CA2277815104 | GAA | c.1841C= (p.Thr614=) n.281C= c.229C= n.455C= | |
| 17 | g.80112664C>G | CA401369590 | GAA | c.1841C>G (p.Thr614Arg) n.281C>G c.229C>G n.455C>G | |
| 17 | g.80112664C>T | CA8815496 | GAA | c.1841C>T (p.Thr614Met) n.281C>T c.229C>T n.455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112664_80112667delinsCGGG | CA2277815106 | GAA | c.1841_1844delinsCGGG (p.Thr614=) n.281_284delinsCGGG c.229_232delinsCGGG n.455_458delinsCGGG | |
| 17 | g.80112665G>A | CA8815497 | GAA | c.1842G>A (p.Thr614=) n.282G>A c.230G>A n.456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112665G>C | CA502402583 | GAA | c.1842G>C (p.Thr614=) n.282G>C c.230G>C n.456G>C | ClinVar dbSNP |
| 17 | g.80112665G= | CA2277815109 | GAA | c.1842G= (p.Thr614=) n.282G= c.230G= n.456G= | |
| 17 | g.80112665G>T | CA502402584 | GAA | c.1842G>T (p.Thr614=) n.282G>T c.230G>T n.456G>T | gnomAD v4 |
| 17 | g.80112669dup | CA775518065 | GAA | c.1846dup (p.Asp616GlyfsTer20) c.1846dup (p.Asp616GlyfsTer?) n.286dup c.234dup n.460dup | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112669del | CA2573054605 | GAA | c.1846del (p.Asp616ThrfsTer?) n.286del c.234del n.460del | ClinVar dbSNP |
| 17 | g.80112667_80112669del | CA628018361 | GAA | c.1844_1846del (p.Gly615del) n.284_286del c.232_234del n.458_460del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112666G>A | CA273955 | GAA | c.1843G>A (p.Gly615Arg) n.283G>A c.231G>A n.457G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112666G>C | CA401369596 | GAA | c.1843G>C (p.Gly615Arg) n.283G>C c.231G>C n.457G>C | |
| 17 | g.80112666G= | CA2277815111 | GAA | c.1843G= (p.Gly615=) n.283G= c.231G= n.457G= | |
| 17 | g.80112666G>T | CA401369594 | GAA | c.1843G>T (p.Gly615Trp) n.283G>T c.231G>T n.457G>T | gnomAD v4 |
| 17 | g.80112667G>A | CA401369598 | GAA | c.1844G>A (p.Gly615Glu) n.284G>A c.232G>A n.458G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112667G>C | CA401369600 | GAA | c.1844G>C (p.Gly615Ala) n.284G>C c.232G>C n.458G>C | |
| 17 | g.80112667G= | CA2277815114 | GAA | c.1844G= (p.Gly615=) n.284G= c.232G= n.458G= | |
| 17 | g.80112667G>T | CA401369601 | GAA | c.1844G>T (p.Gly615Val) n.284G>T c.232G>T n.458G>T | ClinVar dbSNP |
| 17 | g.80112668G>A | CA502402586 | GAA | c.1845G>A (p.Gly615=) n.285G>A c.233G>A n.459G>A | ClinVar |
| 17 | g.80112668G>C | CA502402587 | GAA | c.1845G>C (p.Gly615=) n.285G>C c.233G>C n.459G>C | |
| 17 | g.80112668G>T | CA502402588 | GAA | c.1845G>T (p.Gly615=) n.285G>T c.233G>T n.459G>T | |
| 17 | g.80112669G>A | CA294896447 | GAA | c.1846G>A (p.Asp616Asn) n.286G>A c.234G>A n.460G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112669G>C | CA401369603 | GAA | c.1846G>C (p.Asp616His) n.286G>C c.234G>C n.460G>C | |
| 17 | g.80112669G= | CA2277815116 | GAA | c.1846G= (p.Asp616=) n.286G= c.234G= n.460G= | |
| 17 | g.80112669G>T | CA401369607 | GAA | c.1846G>T (p.Asp616Tyr) n.286G>T c.234G>T n.460G>T | ClinVar |
| 17 | g.80112670A>C | CA401369608 | GAA | c.1847A>C (p.Asp616Ala) n.287A>C c.235A>C n.461A>C | |
| 17 | g.80112670A>G | CA401369610 | GAA | c.1847A>G (p.Asp616Gly) n.287A>G c.235A>G n.461A>G | |
| 17 | g.80112670A>T | CA401369612 | GAA | c.1847A>T (p.Asp616Val) n.287A>T c.235A>T n.461A>T | |
| 17 | g.80112670dup | CA628018362 | GAA | c.1847dup (p.Asp616GlufsTer20) c.1847dup (p.Asp616GlufsTer?) n.287dup c.235dup n.461dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112670_80112671insT | CA913184758 | GAA | c.1847_1848insT (p.Val617ArgfsTer19) c.1847_1848insT (p.Val617ArgfsTer?) n.287_288insT c.235_236insT n.461_462insT | |
| 17 | g.80112671C>A | CA401369615 | GAA | c.1848C>A (p.Asp616Glu) n.288C>A c.236C>A n.462C>A | ClinVar |
| 17 | g.80112671C= | CA2277815118 | GAA | c.1848C= (p.Asp616=) n.288C= c.236C= n.462C= | |
| 17 | g.80112671C>G | CA401369617 | GAA | c.1848C>G (p.Asp616Glu) n.288C>G c.236C>G n.462C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112671C>T | CA8815498 | GAA | c.1848C>T (p.Asp616=) n.288C>T c.236C>T n.462C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112671dup | CA658795267 | GAA | c.1848dup (p.Val617ArgfsTer19) c.1848dup (p.Val617ArgfsTer?) n.288dup c.236dup n.462dup | ClinVar |
| 17 | g.80112672G>A | CA8815499 | GAA | c.1849G>A (p.Val617Met) n.289G>A c.237G>A n.463G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112672G>C | CA294896458 | GAA | c.1849G>C (p.Val617Leu) n.289G>C c.237G>C n.463G>C | dbSNP |
| 17 | g.80112672G= | CA2277815121 | GAA | c.1849G= (p.Val617=) n.289G= c.237G= n.463G= | |
| 17 | g.80112672G>T | CA401369618 | GAA | c.1849G>T (p.Val617Leu) n.289G>T c.237G>T n.463G>T | dbSNP gnomAD v4 |
| 17 | g.80112673T>A | CA401369622 | GAA | c.1850T>A (p.Val617Glu) n.290T>A c.238T>A n.464T>A | |
| 17 | g.80112673T>C | CA401369624 | GAA | c.1850T>C (p.Val617Ala) n.290T>C c.238T>C n.464T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112673T>G | CA401369628 | GAA | c.1850T>G (p.Val617Gly) n.290T>G c.238T>G n.464T>G | |
| 17 | g.80112673T= | CA2277815123 | GAA | c.1850T= (p.Val617=) n.290T= c.238T= n.464T= | |
| 17 | g.80112674G>A | CA10604843 | GAA | c.1851G>A (p.Val617=) n.291G>A c.239G>A n.465G>A | ClinVar dbSNP |
| 17 | g.80112674G>C | CA502402592 | GAA | c.1851G>C (p.Val617=) n.291G>C c.239G>C n.465G>C | |
| 17 | g.80112674G= | CA2277815124 | GAA | c.1851G= (p.Val617=) n.291G= c.239G= n.465G= | |
| 17 | g.80112674G>T | CA502402593 | GAA | c.1851G>T (p.Val617=) n.291G>T c.239G>T n.465G>T | gnomAD v4 |
| 17 | g.80112675T>A | CA401369633 | GAA | c.1852T>A (p.Trp618Arg) n.292T>A c.240T>A n.466T>A | |
| 17 | g.80112675T>C | CA401369635 | GAA | c.1852T>C (p.Trp618Arg) n.292T>C c.240T>C n.466T>C | |
| 17 | g.80112675T>G | CA401369636 | GAA | c.1852T>G (p.Trp618Gly) n.292T>G c.240T>G n.466T>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112675T= | CA2277815127 | GAA | c.1852T= (p.Trp618=) n.292T= c.240T= n.466T= | |
| 17 | g.80112676G>A | CA401369637 | GAA | c.1853G>A (p.Trp618Ter) n.293G>A c.241G>A n.467G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112676G>C | CA401369638 | GAA | c.1853G>C (p.Trp618Ser) n.293G>C c.241G>C n.467G>C | |
| 17 | g.80112676G= | CA2277815128 | GAA | c.1853G= (p.Trp618=) n.293G= c.241G= n.467G= | |
| 17 | g.80112676G>T | CA401369639 | GAA | c.1853G>T (p.Trp618Leu) n.293G>T c.241G>T n.467G>T | |
| 17 | g.80112676_80112677insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA | CA2573054606 | GAA | c.1853_1854insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA (p.Trp618Ter) n.293_294insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA c.241_242insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA n.467_468insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA | dbSNP |
| 17 | g.80112677G>A | CA401369641 | GAA | c.1854G>A (p.Trp618Ter) n.294G>A c.242G>A n.468G>A | |
| 17 | g.80112677G>C | CA401369643 | GAA | c.1854G>C (p.Trp618Cys) n.294G>C c.242G>C n.468G>C | gnomAD v4 |
| 17 | g.80112677G>T | CA401369645 | GAA | c.1854G>T (p.Trp618Cys) n.294G>T c.242G>T n.468G>T | |
| 17 | g.80112678A>C | CA401369651 | GAA | c.1855A>C (p.Ser619Arg) n.295A>C c.243A>C n.469A>C | ClinVar |
| 17 | g.80112678A>G | CA401369647 | GAA | c.1855A>G (p.Ser619Gly) n.295A>G c.243A>G n.469A>G | ClinVar |
| 17 | g.80112678A>T | CA401369649 | GAA | c.1855A>T (p.Ser619Cys) n.295A>T c.243A>T n.469A>T | |
| 17 | g.80112679G>A | CA8815500 | GAA | c.1856G>A (p.Ser619Asn) n.296G>A c.244G>A n.470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112679G>C | CA401369653 | GAA | c.1856G>C (p.Ser619Thr) n.296G>C c.244G>C n.470G>C | |
| 17 | g.80112679G= | CA2277815131 | GAA | c.1856G= (p.Ser619=) n.296G= c.244G= n.470G= | |
| 17 | g.80112679G>T | CA401369654 | GAA | c.1856G>T (p.Ser619Ile) n.296G>T c.244G>T n.470G>T |