| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99420604C>A | CA357497496 | ADH7 | c.754G>T (p.Glu252Ter) c.790G>T (p.Glu264Ter) c.814G>T (p.Glu272Ter) c.583G>T (p.Glu195Ter) | |
| 4 | g.99420604C= | CA1479994104 | ADH7 | c.754G= (p.Glu252=) c.790G= (p.Glu264=) c.814G= (p.Glu272=) c.583G= (p.Glu195=) | |
| 4 | g.99420604C>G | CA357497497 | ADH7 | c.754G>C (p.Glu252Gln) c.790G>C (p.Glu264Gln) c.814G>C (p.Glu272Gln) c.583G>C (p.Glu195Gln) | |
| 4 | g.99420604C>T | CA357497498 | ADH7 | c.754G>A (p.Glu252Lys) c.790G>A (p.Glu264Lys) c.814G>A (p.Glu272Lys) c.583G>A (p.Glu195Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99420605A= | CA1479994106 | ADH7 | c.753T= (p.Ser251=) c.789T= (p.Ser263=) c.813T= (p.Ser271=) c.582T= (p.Ser194=) | |
| 4 | g.99420605A>C | CA357497499 | ADH7 | c.753T>G (p.Ser251Arg) c.789T>G (p.Ser263Arg) c.813T>G (p.Ser271Arg) c.582T>G (p.Ser194Arg) | |
| 4 | g.99420605A>G | CA440506397 | ADH7 | c.753T>C (p.Ser251=) c.789T>C (p.Ser263=) c.813T>C (p.Ser271=) c.582T>C (p.Ser194=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99420605A>T | CA357497500 | ADH7 | c.753T>A (p.Ser251Arg) c.789T>A (p.Ser263Arg) c.813T>A (p.Ser271Arg) c.582T>A (p.Ser194Arg) | |
| 4 | g.99420606C>A | CA357497501 | ADH7 | c.752G>T (p.Ser251Ile) c.788G>T (p.Ser263Ile) c.812G>T (p.Ser271Ile) c.581G>T (p.Ser194Ile) | |
| 4 | g.99420606C>G | CA357497503 | ADH7 | c.752G>C (p.Ser251Thr) c.788G>C (p.Ser263Thr) c.812G>C (p.Ser271Thr) c.581G>C (p.Ser194Thr) | |
| 4 | g.99420606C>T | CA357497502 | ADH7 | c.752G>A (p.Ser251Asn) c.788G>A (p.Ser263Asn) c.812G>A (p.Ser271Asn) c.581G>A (p.Ser194Asn) | |
| 4 | g.99420607T>A | CA357497504 | ADH7 | c.751A>T (p.Ser251Cys) c.787A>T (p.Ser263Cys) c.811A>T (p.Ser271Cys) c.580A>T (p.Ser194Cys) | |
| 4 | g.99420607T>C | CA357497505 | ADH7 | c.751A>G (p.Ser251Gly) c.787A>G (p.Ser263Gly) c.811A>G (p.Ser271Gly) c.580A>G (p.Ser194Gly) | |
| 4 | g.99420607T>G | CA357497506 | ADH7 | c.751A>C (p.Ser251Arg) c.787A>C (p.Ser263Arg) c.811A>C (p.Ser271Arg) c.580A>C (p.Ser194Arg) | |
| 4 | g.99420608G>A | CA440506398 | ADH7 | c.750C>T (p.Ile250=) c.786C>T (p.Ile262=) c.810C>T (p.Ile270=) c.579C>T (p.Ile193=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99420608G>C | CA357497507 | ADH7 | c.750C>G (p.Ile250Met) c.786C>G (p.Ile262Met) c.810C>G (p.Ile270Met) c.579C>G (p.Ile193Met) | |
| 4 | g.99420608G= | CA1479994108 | ADH7 | c.750C= (p.Ile250=) c.786C= (p.Ile262=) c.810C= (p.Ile270=) c.579C= (p.Ile193=) | |
| 4 | g.99420608G>T | CA440506399 | ADH7 | c.750C>A (p.Ile250=) c.786C>A (p.Ile262=) c.810C>A (p.Ile270=) c.579C>A (p.Ile193=) | gnomAD v3 gnomAD v4 |
| 4 | g.99420609A= | CA1479994114 | ADH7 | c.749T= (p.Ile250=) c.785T= (p.Ile262=) c.809T= (p.Ile270=) c.578T= (p.Ile193=) | |
| 4 | g.99420609A>C | CA357497508 | ADH7 | c.749T>G (p.Ile250Ser) c.785T>G (p.Ile262Ser) c.809T>G (p.Ile270Ser) c.578T>G (p.Ile193Ser) | |
| 4 | g.99420609A>G | CA3020735 | ADH7 | c.749T>C (p.Ile250Thr) c.785T>C (p.Ile262Thr) c.809T>C (p.Ile270Thr) c.578T>C (p.Ile193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.99420609A>T | CA357497509 | ADH7 | c.749T>A (p.Ile250Asn) c.785T>A (p.Ile262Asn) c.809T>A (p.Ile270Asn) c.578T>A (p.Ile193Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.99420610T>A | CA357497510 | ADH7 | c.748A>T (p.Ile250Phe) c.784A>T (p.Ile262Phe) c.808A>T (p.Ile270Phe) c.577A>T (p.Ile193Phe) | |
| 4 | g.99420610T>C | CA357497511 | ADH7 | c.748A>G (p.Ile250Val) c.784A>G (p.Ile262Val) c.808A>G (p.Ile270Val) c.577A>G (p.Ile193Val) | gnomAD v4 |
| 4 | g.99420610T>G | CA357497512 | ADH7 | c.748A>C (p.Ile250Leu) c.784A>C (p.Ile262Leu) c.808A>C (p.Ile270Leu) c.577A>C (p.Ile193Leu) | |
| 4 | g.99420611G>A | CA440506400 | ADH7 | c.747C>T (p.Pro249=) c.783C>T (p.Pro261=) c.807C>T (p.Pro269=) c.576C>T (p.Pro192=) | |
| 4 | g.99420611G>C | CA440506401 | ADH7 | c.747C>G (p.Pro249=) c.783C>G (p.Pro261=) c.807C>G (p.Pro269=) c.576C>G (p.Pro192=) | |
| 4 | g.99420611G>T | CA440506402 | ADH7 | c.747C>A (p.Pro249=) c.783C>A (p.Pro261=) c.807C>A (p.Pro269=) c.576C>A (p.Pro192=) | |
| 4 | g.99420612G>A | CA357497515 | ADH7 | c.746C>T (p.Pro249Leu) c.782C>T (p.Pro261Leu) c.806C>T (p.Pro269Leu) c.575C>T (p.Pro192Leu) | |
| 4 | g.99420612G>C | CA357497514 | ADH7 | c.746C>G (p.Pro249Arg) c.782C>G (p.Pro261Arg) c.806C>G (p.Pro269Arg) c.575C>G (p.Pro192Arg) | |
| 4 | g.99420612G>T | CA357497513 | ADH7 | c.746C>A (p.Pro249His) c.782C>A (p.Pro261His) c.806C>A (p.Pro269His) c.575C>A (p.Pro192His) | |
| 4 | g.99420613G>A | CA357497516 | ADH7 | c.745C>T (p.Pro249Ser) c.781C>T (p.Pro261Ser) c.805C>T (p.Pro269Ser) c.574C>T (p.Pro192Ser) | dbSNP gnomAD v4 |
| 4 | g.99420613G>C | CA357497518 | ADH7 | c.745C>G (p.Pro249Ala) c.781C>G (p.Pro261Ala) c.805C>G (p.Pro269Ala) c.574C>G (p.Pro192Ala) | |
| 4 | g.99420613G= | CA1479994118 | ADH7 | c.745C= (p.Pro249=) c.781C= (p.Pro261=) c.805C= (p.Pro269=) c.574C= (p.Pro192=) | |
| 4 | g.99420613G>T | CA357497517 | ADH7 | c.745C>A (p.Pro249Thr) c.781C>A (p.Pro261Thr) c.805C>A (p.Pro269Thr) c.574C>A (p.Pro192Thr) | |
| 4 | g.99420614T>A | CA357497519 | ADH7 | c.744A>T (p.Lys248Asn) c.780A>T (p.Lys260Asn) c.804A>T (p.Lys268Asn) c.573A>T (p.Lys191Asn) | |
| 4 | g.99420614T>C | CA440506403 | ADH7 | c.744A>G (p.Lys248=) c.780A>G (p.Lys260=) c.804A>G (p.Lys268=) c.573A>G (p.Lys191=) | |
| 4 | g.99420614T>G | CA357497520 | ADH7 | c.744A>C (p.Lys248Asn) c.780A>C (p.Lys260Asn) c.804A>C (p.Lys268Asn) c.573A>C (p.Lys191Asn) | |
| 4 | g.99420615T>A | CA357497521 | ADH7 | c.743A>T (p.Lys248Ile) c.779A>T (p.Lys260Ile) c.803A>T (p.Lys268Ile) c.572A>T (p.Lys191Ile) | |
| 4 | g.99420615T>C | CA357497522 | ADH7 | c.743A>G (p.Lys248Arg) c.779A>G (p.Lys260Arg) c.803A>G (p.Lys268Arg) c.572A>G (p.Lys191Arg) | |
| 4 | g.99420615T>G | CA357497523 | ADH7 | c.743A>C (p.Lys248Thr) c.779A>C (p.Lys260Thr) c.803A>C (p.Lys268Thr) c.572A>C (p.Lys191Thr) | |
| 4 | g.99420619_99420630del | CA2671525111 | ADH7 | c.732_743del (p.Asp245_Lys248del) c.768_779del (p.Asp257_Lys260del) c.792_803del (p.Asp265_Lys268del) c.561_572del (p.Asp188_Lys191del) | gnomAD v4 |
| 4 | g.99420616T>A | CA357497524 | ADH7 | c.742A>T (p.Lys248Ter) c.778A>T (p.Lys260Ter) c.802A>T (p.Lys268Ter) c.571A>T (p.Lys191Ter) | |
| 4 | g.99420616T>C | CA357497525 | ADH7 | c.742A>G (p.Lys248Glu) c.778A>G (p.Lys260Glu) c.802A>G (p.Lys268Glu) c.571A>G (p.Lys191Glu) | |
| 4 | g.99420616T>G | CA357497526 | ADH7 | c.742A>C (p.Lys248Gln) c.778A>C (p.Lys260Gln) c.802A>C (p.Lys268Gln) c.571A>C (p.Lys191Gln) | |
| 4 | g.99420617G>A | CA440506404 | ADH7 | c.741C>T (p.Thr247=) c.777C>T (p.Thr259=) c.801C>T (p.Thr267=) c.570C>T (p.Thr190=) | |
| 4 | g.99420617G>C | CA440506405 | ADH7 | c.741C>G (p.Thr247=) c.777C>G (p.Thr259=) c.801C>G (p.Thr267=) c.570C>G (p.Thr190=) | |
| 4 | g.99420617G= | CA1479994123 | ADH7 | c.741C= (p.Thr247=) c.777C= (p.Thr259=) c.801C= (p.Thr267=) c.570C= (p.Thr190=) | |
| 4 | g.99420617G>T | CA440506406 | ADH7 | c.741C>A (p.Thr247=) c.777C>A (p.Thr259=) c.801C>A (p.Thr267=) c.570C>A (p.Thr190=) | dbSNP gnomAD v4 |
| 4 | g.99420618G>A | CA357497527 | ADH7 | c.740C>T (p.Thr247Ile) c.776C>T (p.Thr259Ile) c.800C>T (p.Thr267Ile) c.569C>T (p.Thr190Ile) | gnomAD v4 |