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.80110904T>G | CA8815376 | GAA | c.1552-37T>G (n.1552-37T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110904T= | CA2277814157 | GAA | c.1552-37T= (n.1552-37T=) | |
17 | g.80110907G>A | CA8815377 | GAA | c.1552-34G>A (n.1552-34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110907G= | CA2277814158 | GAA | c.1552-34G= (n.1552-34G=) | |
17 | g.80110907G>T | CA627699588 | GAA | c.1552-34G>T (n.1552-34G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110908C= | CA2277814159 | GAA | c.1552-33C= (n.1552-33C=) | |
17 | g.80110908C>T | CA8815378 | GAA | c.1552-33C>T (n.1552-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110908_80110910delinsCAG | CA2277814160 | GAA | c.1552-33_1552-31delinsCAG (n.1552-33_1552-31delinsCAG) | |
17 | g.80110909A= | CA2277814161 | GAA | c.1552-32A= (n.1552-32A=) | |
17 | g.80110909A>G | CA775516749 | GAA | c.1552-32A>G (n.1552-32A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110911_80110912del | CA627699589 | GAA | c.1552-30_1552-29del (n.1552-30_1552-29del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110910G>A | CA2640288761 | GAA | c.1552-31G>A (n.1552-31G>A) | gnomAD v4 |
17 | g.80110913T>A | CA2640288762 | GAA | c.1552-28T>A (n.1552-28T>A) | gnomAD v4 |
17 | g.80110914C= | CA2277814162 | GAA | c.1552-27C= (n.1552-27C=) | |
17 | g.80110914C>G | CA2576414108 | GAA | c.1552-27C>G (n.1552-27C>G) | gnomAD v4 |
17 | g.80110914C>T | CA8815379 | GAA | c.1552-27C>T (n.1552-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110915A>G | CA2576414109 | GAA | c.1552-26A>G (n.1552-26A>G) | |
17 | g.80110916C>T | CA2567105431 | GAA | c.1552-25C>T (n.1552-25C>T) | gnomAD v4 |
17 | g.80110917C>G | CA2640288763 | GAA | c.1552-24C>G (n.1552-24C>G) | gnomAD v4 |
17 | g.80110918T>A | CA2640288764 | GAA | c.1552-23T>A (n.1552-23T>A) | gnomAD v4 |
17 | g.80110921del | CA2576414110 | GAA | c.1552-20del (n.1552-20del) | |
17 | g.80110921C= | CA2277814163 | GAA | c.1552-20C= (n.1552-20C=) | |
17 | g.80110921C>T | CA8815380 | GAA | c.1552-20C>T (n.1552-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110922A= | CA2277814165 | GAA | c.1552-19A= (n.1552-19A=) | |
17 | g.80110922A>T | CA986707348 | GAA | c.1552-19A>T (n.1552-19A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110922_80110936delinsAGCAGCGCTTCTCTT | CA2277814164 | GAA | c.1552-19_1552-5delinsAGCAGCGCTTCTCTT (n.1552-19_1552-5delinsAGCAGCGCTTCTCTT) | |
17 | g.80110923G>C | CA2277814167 | GAA | c.1552-18G>C (n.1552-18G>C) | dbSNP gnomAD v4 |
17 | g.80110923G= | CA2277814166 | GAA | c.1552-18G= (n.1552-18G=) | |
17 | g.80110927_80110940del | CA891844474 | GAA | c.1552-14_1552-1del (n.1552-14_1552-1del) | ClinVar dbSNP |
17 | g.80110924C>T | CA2640288773 | GAA | c.1552-17C>T (n.1552-17C>T) | gnomAD v4 |
17 | g.80110925A>G | CA2740093942 | GAA | c.1552-16A>G (n.1552-16A>G) | ClinVar |
17 | g.80110926G>A | CA2640288776 | GAA | c.1552-15G>A (n.1552-15G>A) | gnomAD v4 |
17 | g.80110926G>C | CA2734103691 | GAA | c.1552-15G>C (n.1552-15G>C) | dbSNP |
17 | g.80110926G>T | CA2640288775 | GAA | c.1552-15G>T (n.1552-15G>T) | gnomAD v4 |
17 | g.80110927C= | CA2277814168 | GAA | c.1552-14C= (n.1552-14C=) | |
17 | g.80110927C>G | CA2504980463 | GAA | c.1552-14C>G (n.1552-14C>G) | dbSNP gnomAD v4 |
17 | g.80110927C>T | CA8815381 | GAA | c.1552-14C>T (n.1552-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110928G>A | CA8815382 | GAA | c.1552-13G>A (n.1552-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110928G= | CA2277814169 | GAA | c.1552-13G= (n.1552-13G=) | |
17 | g.80110929C>A | CA2573154974 | GAA | c.1552-12C>A (n.1552-12C>A) | ClinVar dbSNP |
17 | g.80110929_80110930delinsCT | CA2277814170 | GAA | c.1552-12_1552-11delinsCT (n.1552-12_1552-11delinsCT) | |
17 | g.80110930T>C | CA2277814172 | GAA | c.1552-11T>C (n.1552-11T>C) | dbSNP gnomAD v4 |
17 | g.80110930T= | CA2277814171 | GAA | c.1552-11T= (n.1552-11T=) | |
17 | g.80110931del | CA294894974 | GAA | c.1552-10del (n.1552-10del) | ClinVar dbSNP gnomAD v4 |
17 | g.80110933T>C | CA2277814173 | GAA | c.1552-8T>C (n.1552-8T>C) | ClinVar dbSNP |
17 | g.80110933T= | CA2277814174 | GAA | c.1552-8T= (n.1552-8T=) | |
17 | g.80110934C= | CA2277814175 | GAA | c.1552-7C= (n.1552-7C=) | |
17 | g.80110934C>G | CA2740093943 | GAA | c.1552-7C>G (n.1552-7C>G) | ClinVar |
17 | g.80110934C>T | CA2277814176 | GAA | c.1552-7C>T (n.1552-7C>T) | ClinVar dbSNP |
17 | g.80110936T>G | CA2640288787 | GAA | c.1552-5T>G (n.1552-5T>G) | gnomAD v4 |
17 | g.80110937G>T | CA645599507 | GAA | c.1552-4G>T (n.1552-4G>T) | COSMIC |
17 | g.80110938C>A | CA2838143411 | GAA | c.1552-3C>A (n.1552-3C>A) | |
17 | g.80110938C= | CA2277814177 | GAA | c.1552-3C= (n.1552-3C=) | |
17 | g.80110938C>G | CA8815383 | GAA | c.1552-3C>G (n.1552-3C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110938C>T | CA2573154975 | GAA | c.1552-3C>T (n.1552-3C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80110939A= | CA2277814178 | GAA | c.1552-2A= (n.1552-2A=) | |
17 | g.80110939A>C | CA401367172 | GAA | c.1552-2A>C (n.1552-2A>C) | ClinVar |
17 | g.80110939A>G | CA401367171 | GAA | c.1552-2A>G (n.1552-2A>G) | ClinVar dbSNP |
17 | g.80110939A>T | CA401367173 | GAA | c.1552-2A>T (n.1552-2A>T) | |
17 | g.80110940G>A | CA401367174 | GAA | c.1552-1G>A (n.1552-1G>A) | |
17 | g.80110940G>C | CA401367175 | GAA | c.1552-1G>C (n.1552-1G>C) | gnomAD v4 |
17 | g.80110940G>T | CA401367176 | GAA | c.1552-1G>T (n.1552-1G>T) | |
17 | g.80110941G>A | CA401367177 | GAA | c.1552G>A (p.Asp518Asn) | |
17 | g.80110941G>C | CA401367178 | GAA | c.1552G>C (p.Asp518His) | |
17 | g.80110941G= | CA2277814179 | GAA | c.1552G= (p.Asp518=) | |
17 | g.80110941G>T | CA401367179 | GAA | c.1552G>T (p.Asp518Tyr) | |
17 | g.80110942A>C | CA401367182 | GAA | c.1553A>C (p.Asp518Ala) | |
17 | g.80110942A>G | CA401367181 | GAA | c.1553A>G (p.Asp518Gly) | |
17 | g.80110942A>T | CA401367180 | GAA | c.1553A>T (p.Asp518Val) | |
17 | g.80110942_80110944dup | CA913186005 | GAA | c.1553_1555dup (p.Asp518_Met519insAsn) | ClinVar dbSNP |
17 | g.80110943C>A | CA401367183 | GAA | c.1554C>A (p.Asp518Glu) | |
17 | g.80110943C= | CA2277814180 | GAA | c.1554C= (p.Asp518=) | |
17 | g.80110943C>G | CA401367184 | GAA | c.1554C>G (p.Asp518Glu) | |
17 | g.80110943C>T | CA8815384 | GAA | c.1554C>T (p.Asp518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110944A= | CA2277814181 | GAA | c.1555A= (p.Met519=) | |
17 | g.80110944A>C | CA401367185 | GAA | c.1555A>C (p.Met519Leu) | |
17 | g.80110944A>G | CA401367186 | GAA | c.1555A>G (p.Met519Val) | ClinVar dbSNP |
17 | g.80110944A>T | CA401367187 | GAA | c.1555A>T (p.Met519Leu) | |
17 | g.80110945T>A | CA401367188 | GAA | c.1556T>A (p.Met519Lys) | |
17 | g.80110945T>C | CA274402 | GAA | c.1556T>C (p.Met519Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110945T>G | CA401367189 | GAA | c.1556T>G (p.Met519Arg) | |
17 | g.80110945T= | CA2277814182 | GAA | c.1556T= (p.Met519=) | |
17 | g.80110946G>A | CA401367190 | GAA | c.1557G>A (p.Met519Ile) | ClinVar dbSNP |
17 | g.80110946G>C | CA401367191 | GAA | c.1557G>C (p.Met519Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110946G= | CA2277814183 | GAA | c.1557G= (p.Met519=) | |
17 | g.80110946G>T | CA401367192 | GAA | c.1557G>T (p.Met519Ile) | |
17 | g.80110946_80110950dup | CA2499225013 | GAA | c.1557_1561dup (p.Glu521GlyfsTer?) | ClinVar dbSNP |
17 | g.80110947A>C | CA401367193 | GAA | c.1558A>C (p.Asn520His) | |
17 | g.80110947A>G | CA401367194 | GAA | c.1558A>G (p.Asn520Asp) | |
17 | g.80110947A>T | CA401367195 | GAA | c.1558A>T (p.Asn520Tyr) | |
17 | g.80110948del | CA2573054603 | GAA | c.1559del (p.Asn520ThrfsTer?) | ClinVar dbSNP |
17 | g.80110948A= | CA2277814184 | GAA | c.1559A= (p.Asn520=) | |
17 | g.80110948A>C | CA401367196 | GAA | c.1559A>C (p.Asn520Thr) | |
17 | g.80110948A>G | CA401367197 | GAA | c.1559A>G (p.Asn520Ser) | ClinVar dbSNP |
17 | g.80110948A>T | CA401367198 | GAA | c.1559A>T (p.Asn520Ile) | ClinVar |
17 | g.80110949del | CA2739268477 | GAA | c.1560del (p.Asn520LysfsTer?) | ClinVar |
17 | g.80110949C>A | CA401367199 | GAA | c.1560C>A (p.Asn520Lys) | gnomAD v4 |
17 | g.80110949C= | CA2277814185 | GAA | c.1560C= (p.Asn520=) | |
17 | g.80110949C>G | CA401367200 | GAA | c.1560C>G (p.Asn520Lys) | |
17 | g.80110949C>T | CA8815385 | GAA | c.1560C>T (p.Asn520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110950del | CA2697555224 | GAA | c.1561del (p.Glu521SerfsTer?) | ClinVar |
17 | g.80110950G>A | CA116593 | GAA | c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80110950G>C | CA401367201 | GAA | c.1561G>C (p.Glu521Gln) | ClinVar |
17 | g.80110950G= | CA2277814186 | GAA | c.1561G= (p.Glu521=) | |
17 | g.80110950G>T | CA401367202 | GAA | c.1561G>T (p.Glu521Ter) | |
17 | g.80110951A= | CA2277814187 | GAA | c.1562A= (p.Glu521=) | |
17 | g.80110951A>C | CA401367203 | GAA | c.1562A>C (p.Glu521Ala) | |
17 | g.80110951A>G | CA401367204 | GAA | c.1562A>G (p.Glu521Gly) | |
17 | g.80110951A>T | CA401367205 | GAA | c.1562A>T (p.Glu521Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110952G>A | CA502178688 | GAA | c.1563G>A (p.Glu521=) | |
17 | g.80110952G>C | CA401367206 | GAA | c.1563G>C (p.Glu521Asp) | |
17 | g.80110952G>T | CA401367207 | GAA | c.1563G>T (p.Glu521Asp) | |
17 | g.80110952_80110953insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT | CA986707383 | GAA | c.1563_1564insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT (p.Pro522LysfsTer5) | |
17 | g.80110953C>A | CA401367208 | GAA | c.1564C>A (p.Pro522Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.80110953C= | CA2277814188 | GAA | c.1564C= (p.Pro522=) | |
17 | g.80110953C>G | CA16041893 | GAA | c.1564C>G (p.Pro522Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.80110953C>T | CA294895008 | GAA | c.1564C>T (p.Pro522Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110954C>A | CA401367209 | GAA | c.1565C>A (p.Pro522His) | |
17 | g.80110954C>G | CA401367211 | GAA | c.1565C>G (p.Pro522Arg) | |
17 | g.80110954C>T | CA401367210 | GAA | c.1565C>T (p.Pro522Leu) | ClinVar dbSNP |
17 | g.80110954_80110955delinsCT | CA2277814189 | GAA | c.1565_1566delinsCT (p.Pro522=) | |
17 | g.80110955T>A | CA502178691 | GAA | c.1566T>A (p.Pro522=) | |
17 | g.80110955T>C | CA502178690 | GAA | c.1566T>C (p.Pro522=) | |
17 | g.80110955T>G | CA502178689 | GAA | c.1566T>G (p.Pro522=) | |
17 | g.80110956del | CA16041894 | GAA | c.1567del (p.Ser523ProfsTer?) | ClinVar dbSNP |
17 | g.80110956T>A | CA401367212 | GAA | c.1567T>A (p.Ser523Thr) | |
17 | g.80110956T>C | CA401367213 | GAA | c.1567T>C (p.Ser523Pro) | gnomAD v4 |
17 | g.80110956T>G | CA401367214 | GAA | c.1567T>G (p.Ser523Ala) | |
17 | g.80110957C>A | CA401367215 | GAA | c.1568C>A (p.Ser523Tyr) | |
17 | g.80110957C= | CA2277814190 | GAA | c.1568C= (p.Ser523=) | |
17 | g.80110957C>G | CA401367217 | GAA | c.1568C>G (p.Ser523Cys) | ClinVar dbSNP |
17 | g.80110957C>T | CA401367216 | GAA | c.1568C>T (p.Ser523Phe) | gnomAD v4 |
17 | g.80110958C>A | CA502178692 | GAA | c.1569C>A (p.Ser523=) | |
17 | g.80110958C>G | CA502178693 | GAA | c.1569C>G (p.Ser523=) | |
17 | g.80110958C>T | CA502178694 | GAA | c.1569C>T (p.Ser523=) | |
17 | g.80110959A>C | CA401367218 | GAA | c.1570A>C (p.Asn524His) | |
17 | g.80110959A>G | CA401367219 | GAA | c.1570A>G (p.Asn524Asp) | gnomAD v4 |
17 | g.80110959A>T | CA401367220 | GAA | c.1570A>T (p.Asn524Tyr) | |
17 | g.80110960A= | CA2277814191 | GAA | c.1571A= (p.Asn524=) | |
17 | g.80110960A>C | CA401367221 | GAA | c.1571A>C (p.Asn524Thr) | ClinVar |
17 | g.80110960A>G | CA401367222 | GAA | c.1571A>G (p.Asn524Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110960A>T | CA401367223 | GAA | c.1571A>T (p.Asn524Ile) | |
17 | g.80110961C>A | CA401367224 | GAA | c.1572C>A (p.Asn524Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110961C= | CA2277814192 | GAA | c.1572C= (p.Asn524=) | |
17 | g.80110961C>G | CA401367225 | GAA | c.1572C>G (p.Asn524Lys) | ClinVar dbSNP |
17 | g.80110961C>T | CA502178695 | GAA | c.1572C>T (p.Asn524=) | ClinVar dbSNP |
17 | g.80110962T>A | CA401367226 | GAA | c.1573T>A (p.Phe525Ile) | dbSNP |
17 | g.80110962T>C | CA401367227 | GAA | c.1573T>C (p.Phe525Leu) | |
17 | g.80110962T>G | CA401367228 | GAA | c.1573T>G (p.Phe525Val) | |
17 | g.80110962T= | CA2277814193 | GAA | c.1573T= (p.Phe525=) | |
17 | g.80110963T>A | CA401367231 | GAA | c.1574T>A (p.Phe525Tyr) | |
17 | g.80110963T>C | CA401367229 | GAA | c.1574T>C (p.Phe525Ser) | |
17 | g.80110963T>G | CA401367230 | GAA | c.1574T>G (p.Phe525Cys) | |
17 | g.80110964C>A | CA401367232 | GAA | c.1575C>A (p.Phe525Leu) | |
17 | g.80110964C>G | CA401367233 | GAA | c.1575C>G (p.Phe525Leu) | |
17 | g.80110964C>T | CA502178696 | GAA | c.1575C>T (p.Phe525=) | COSMIC |
17 | g.80110964dup | CA2573154976 | GAA | c.1575dup (p.Ile526HisfsTer5) | ClinVar dbSNP |
17 | g.80110964_80110965del | CA2580095759 | GAA | c.1575_1576del (p.Ile526GlnfsTer4) | ClinVar |
17 | g.80110965A= | CA2277814194 | GAA | c.1576A= (p.Ile526=) | |
17 | g.80110965A>C | CA401367234 | GAA | c.1576A>C (p.Ile526Leu) | |
17 | g.80110965A>G | CA401367235 | GAA | c.1576A>G (p.Ile526Val) | ClinVar dbSNP |
17 | g.80110965A>T | CA401367236 | GAA | c.1576A>T (p.Ile526Phe) | |
17 | g.80110966T>A | CA401367239 | GAA | c.1577T>A (p.Ile526Asn) | |
17 | g.80110966T>C | CA401367238 | GAA | c.1577T>C (p.Ile526Thr) | |
17 | g.80110966T>G | CA401367237 | GAA | c.1577T>G (p.Ile526Ser) | |
17 | g.80110967C>A | CA502178697 | GAA | c.1578C>A (p.Ile526=) | |
17 | g.80110967C>G | CA401367240 | GAA | c.1578C>G (p.Ile526Met) | |
17 | g.80110967C>T | CA502178698 | GAA | c.1578C>T (p.Ile526=) | |
17 | g.80110967_80110968delinsCA | CA2277814196 | GAA | c.1578_1579delinsCA (p.Ile526=) | |
17 | g.80110967_80110969delinsCAG | CA2277814195 | GAA | c.1578_1580delinsCAG (p.Ile526=) | |
17 | g.80110968del | CA1139665924 | GAA | c.1579del (p.Arg527GlyfsTer?) | ClinVar dbSNP |
17 | g.80110968A>C | CA502178699 | GAA | c.1579A>C (p.Arg527=) | |
17 | g.80110968A>G | CA401367241 | GAA | c.1579A>G (p.Arg527Gly) | ClinVar |
17 | g.80110968A>T | CA401367242 | GAA | c.1579A>T (p.Arg527Trp) | |
17 | g.80110968_80110969del | CA627699647 | GAA | c.1579_1580del (p.Arg527GlyfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110969G>A | CA401367243 | GAA | c.1580G>A (p.Arg527Lys) | ClinVar |
17 | g.80110969G>C | CA401367244 | GAA | c.1580G>C (p.Arg527Thr) | |
17 | g.80110969G>T | CA401367245 | GAA | c.1580G>T (p.Arg527Met) | |
17 | g.80110971_80110972del | CA915940877 | GAA | c.1582_1583del (p.Gly528LeufsTer2) | |
17 | g.80110970G>A | CA145757 | GAA | c.1581G>A (p.Arg527=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110970G>C | CA401367246 | GAA | c.1581G>C (p.Arg527Ser) | |
17 | g.80110970G= | CA2277814197 | GAA | c.1581G= (p.Arg527=) | |
17 | g.80110970G>T | CA401367247 | GAA | c.1581G>T (p.Arg527Ser) | |
17 | g.80110971G>A | CA401367248 | GAA | c.1582G>A (p.Gly528Ser) | dbSNP |
17 | g.80110971G>C | CA401367249 | GAA | c.1582G>C (p.Gly528Arg) | |
17 | g.80110971G= | CA2277814198 | GAA | c.1582G= (p.Gly528=) | |
17 | g.80110971G>T | CA401367250 | GAA | c.1582G>T (p.Gly528Cys) | |
17 | g.80110972G>A | CA401367251 | GAA | c.1583G>A (p.Gly528Asp) | gnomAD v4 |
17 | g.80110972G>C | CA239454 | GAA | c.1583G>C (p.Gly528Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.80110972G= | CA2277814199 | GAA | c.1583G= (p.Gly528=) | |
17 | g.80110972G>T | CA401367252 | GAA | c.1583G>T (p.Gly528Val) | ClinVar gnomAD v4 |
17 | g.80110973C>A | CA502178700 | GAA | c.1584C>A (p.Gly528=) | gnomAD v4 |
17 | g.80110973C= | CA2277814200 | GAA | c.1584C= (p.Gly528=) | |
17 | g.80110973C>G | CA502178701 | GAA | c.1584C>G (p.Gly528=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110973C>T | CA502178702 | GAA | c.1584C>T (p.Gly528=) | |
17 | g.80110974T>A | CA401367253 | GAA | c.1585T>A (p.Ser529Thr) | |
17 | g.80110974T>C | CA401367254 | GAA | c.1585T>C (p.Ser529Pro) | ClinVar dbSNP |
17 | g.80110974T>G | CA401367255 | GAA | c.1585T>G (p.Ser529Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110974T= | CA2277814202 | GAA | c.1585T= (p.Ser529=) | |
17 | g.80110974_80110975delinsGT | CA116604 | GAA | c.1585_1586delinsGT (p.Ser529Val) | ClinVar dbSNP |
17 | g.80110974_80110975delinsTC | CA2277814201 | GAA | c.1585_1586delinsTC (p.Ser529=) | |
17 | g.80110975C>A | CA401367256 | GAA | c.1586C>A (p.Ser529Tyr) | |
17 | g.80110975C>G | CA401367257 | GAA | c.1586C>G (p.Ser529Cys) | |
17 | g.80110975C>T | CA401367258 | GAA | c.1586C>T (p.Ser529Phe) | |
17 | g.80110978_80110987del | CA2640288896 | GAA | c.1589_1598del (p.Glu530AlafsTer?) | gnomAD v4 |
17 | g.80110976del | CA2697555227 | GAA | c.1587del (p.Glu530ArgfsTer?) | ClinVar |
17 | g.80110976T>A | CA502178703 | GAA | c.1587T>A (p.Ser529=) | |
17 | g.80110976T>C | CA502178704 | GAA | c.1587T>C (p.Ser529=) | |
17 | g.80110976T>G | CA502178705 | GAA | c.1587T>G (p.Ser529=) | |
17 | g.80110977G>A | CA401367261 | GAA | c.1588G>A (p.Glu530Lys) | |
17 | g.80110977G>C | CA401367259 | GAA | c.1588G>C (p.Glu530Gln) | |
17 | g.80110977G>T | CA401367260 | GAA | c.1588G>T (p.Glu530Ter) | |
17 | g.80110977_80110978delinsGA | CA2277814203 | GAA | c.1588_1589delinsGA (p.Glu530=) | |
17 | g.80110978del | CA8815386 | GAA | c.1589del (p.Glu530GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.80110978A>C | CA401367262 | GAA | c.1589A>C (p.Glu530Ala) | gnomAD v4 |
17 | g.80110978A>G | CA401367263 | GAA | c.1589A>G (p.Glu530Gly) | |
17 | g.80110978A>T | CA401367264 | GAA | c.1589A>T (p.Glu530Val) | |
17 | g.80110979G>A | CA502178706 | GAA | c.1590G>A (p.Glu530=) | |
17 | g.80110979G>C | CA401367265 | GAA | c.1590G>C (p.Glu530Asp) | |
17 | g.80110979G>T | CA401367266 | GAA | c.1590G>T (p.Glu530Asp) | |
17 | g.80110980dup | CA658795259 | GAA | c.1591dup (p.Asp531GlyfsTer7) | |
17 | g.80110980del | CA401367267 | GAA | c.1591del (p.Asp531ThrfsTer?) | |
17 | g.80110980G>A | CA401367268 | GAA | c.1591G>A (p.Asp531Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110980G>C | CA401367269 | GAA | c.1591G>C (p.Asp531His) | |
17 | g.80110980G= | CA2277814204 | GAA | c.1591G= (p.Asp531=) | |
17 | g.80110980G>T | CA401367270 | GAA | c.1591G>T (p.Asp531Tyr) | |
17 | g.80110981A>C | CA401367271 | GAA | c.1592A>C (p.Asp531Ala) | |
17 | g.80110981A>G | CA401367272 | GAA | c.1592A>G (p.Asp531Gly) | |
17 | g.80110981A>T | CA401367273 | GAA | c.1592A>T (p.Asp531Val) | |
17 | g.80110982C>A | CA401367275 | GAA | c.1593C>A (p.Asp531Glu) | |
17 | g.80110982C= | CA2277814205 | GAA | c.1593C= (p.Asp531=) | |
17 | g.80110982C>G | CA401367274 | GAA | c.1593C>G (p.Asp531Glu) | dbSNP |
17 | g.80110982C>T | CA8815387 | GAA | c.1593C>T (p.Asp531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110982_80110983delinsCG | CA2277814206 | GAA | c.1593_1594delinsCG (p.Asp531=) | |
17 | g.80110983G>A | CA8815388 | GAA | c.1594G>A (p.Gly532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110983G>C | CA401367276 | GAA | c.1594G>C (p.Gly532Arg) | ClinVar |
17 | g.80110983G= | CA2277814207 | GAA | c.1594G= (p.Gly532=) | |
17 | g.80110983G>T | CA294895023 | GAA | c.1594G>T (p.Gly532Cys) | ClinVar dbSNP gnomAD v4 |
17 | g.80110984del | CA294895015 | GAA | c.1595del (p.Gly532AlafsTer?) | dbSNP |
17 | g.80110984G>A | CA401367277 | GAA | c.1595G>A (p.Gly532Asp) | |
17 | g.80110984G>C | CA401367278 | GAA | c.1595G>C (p.Gly532Ala) | |
17 | g.80110984G>T | CA401367279 | GAA | c.1595G>T (p.Gly532Val) | |
17 | g.80110985C>A | CA502178707 | GAA | c.1596C>A (p.Gly532=) | |
17 | g.80110985C>G | CA502178708 | GAA | c.1596C>G (p.Gly532=) | |
17 | g.80110985C>T | CA502178709 | GAA | c.1596C>T (p.Gly532=) | |
17 | g.80110986T>A | CA401367280 | GAA | c.1597T>A (p.Cys533Ser) | |
17 | g.80110986T>C | CA401367281 | GAA | c.1597T>C (p.Cys533Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110986T>G | CA401367282 | GAA | c.1597T>G (p.Cys533Gly) | |
17 | g.80110986T= | CA2277814208 | GAA | c.1597T= (p.Cys533=) | |
17 | g.80110987G>A | CA401367283 | GAA | c.1598G>A (p.Cys533Tyr) | |
17 | g.80110987G>C | CA401367284 | GAA | c.1598G>C (p.Cys533Ser) | |
17 | g.80110987G>T | CA401367285 | GAA | c.1598G>T (p.Cys533Phe) | gnomAD v4 |
17 | g.80110988C>A | CA401367286 | GAA | c.1599C>A (p.Cys533Ter) | |
17 | g.80110988C= | CA2277814209 | GAA | c.1599C= (p.Cys533=) | |
17 | g.80110988C>G | CA401367287 | GAA | c.1599C>G (p.Cys533Trp) | |
17 | g.80110988C>T | CA8815389 | GAA | c.1599C>T (p.Cys533=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110991del | CA2840253190 | GAA | c.1602del (p.Asn535ThrfsTer?) | |
17 | g.80110989C>A | CA401367288 | GAA | c.1600C>A (p.Pro534Thr) | |
17 | g.80110989C>G | CA401367290 | GAA | c.1600C>G (p.Pro534Ala) | |
17 | g.80110989C>T | CA401367289 | GAA | c.1600C>T (p.Pro534Ser) | |
17 | g.80110990C>A | CA401367291 | GAA | c.1601C>A (p.Pro534His) | |
17 | g.80110990C= | CA2277814210 | GAA | c.1601C= (p.Pro534=) | |
17 | g.80110990C>G | CA401367292 | GAA | c.1601C>G (p.Pro534Arg) | ClinVar dbSNP |
17 | g.80110990C>T | CA294895032 | GAA | c.1601C>T (p.Pro534Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110991C>A | CA502178710 | GAA | c.1602C>A (p.Pro534=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110991C= | CA2277814211 | GAA | c.1602C= (p.Pro534=) | |
17 | g.80110991C>G | CA502178711 | GAA | c.1602C>G (p.Pro534=) | |
17 | g.80110991C>T | CA502178712 | GAA | c.1602C>T (p.Pro534=) | |
17 | g.80110991_80110994delinsAGG | CA913184733 | GAA | c.1602_1605delinsAGG (p.Asn535GlyfsTer?) | ClinVar dbSNP |
17 | g.80110992A>C | CA401367293 | GAA | c.1603A>C (p.Asn535His) | |
17 | g.80110992A>G | CA401367294 | GAA | c.1603A>G (p.Asn535Asp) | |
17 | g.80110992A>T | CA401367295 | GAA | c.1603A>T (p.Asn535Tyr) | |
17 | g.80110993A= | CA2277814212 | GAA | c.1604A= (p.Asn535=) | |
17 | g.80110993A>C | CA401367296 | GAA | c.1604A>C (p.Asn535Thr) | |
17 | g.80110993A>G | CA401367297 | GAA | c.1604A>G (p.Asn535Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110993A>T | CA401367298 | GAA | c.1604A>T (p.Asn535Ile) | |
17 | g.80110994C>A | CA401367299 | GAA | c.1605C>A (p.Asn535Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110994C= | CA2277814213 | GAA | c.1605C= (p.Asn535=) | |
17 | g.80110994C>G | CA401367300 | GAA | c.1605C>G (p.Asn535Lys) | |
17 | g.80110994C>T | CA502178713 | GAA | c.1605C>T (p.Asn535=) | |
17 | g.80110995A= | CA2277814214 | GAA | c.1606A= (p.Asn536=) | |
17 | g.80110995A>C | CA401367301 | GAA | c.1606A>C (p.Asn536His) | |
17 | g.80110995A>G | CA401367302 | GAA | c.1606A>G (p.Asn536Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110995A>T | CA401367303 | GAA | c.1606A>T (p.Asn536Tyr) | |
17 | g.80110995_80110996insCAAAACCAAACACACCCAACAC | CA2810585819 | GAA | c.1606_1607insCAAAACCAAACACACCCAACAC (p.Asn536ThrfsTer9) | |
17 | g.80110996A= | CA2277814215 | GAA | c.1607A= (p.Asn536=) | |
17 | g.80110996A>C | CA401367305 | GAA | c.1607A>C (p.Asn536Thr) | |
17 | g.80110996A>G | CA8815390 | GAA | c.1607A>G (p.Asn536Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110996A>T | CA401367304 | GAA | c.1607A>T (p.Asn536Ile) | |
17 | g.80110997T>A | CA401367306 | GAA | c.1608T>A (p.Asn536Lys) | |
17 | g.80110997T>C | CA502178714 | GAA | c.1608T>C (p.Asn536=) | gnomAD v4 |
17 | g.80110997T>G | CA401367307 | GAA | c.1608T>G (p.Asn536Lys) | ClinVar dbSNP |
17 | g.80110997T= | CA2277814216 | GAA | c.1608T= (p.Asn536=) | |
17 | g.80110998G>A | CA401367308 | GAA | c.1609G>A (p.Glu537Lys) | |
17 | g.80110998G>C | CA401367309 | GAA | c.1609G>C (p.Glu537Gln) | |
17 | g.80110998G>T | CA401367310 | GAA | c.1609G>T (p.Glu537Ter) | |
17 | g.80110998_80110999delinsGA | CA2277814217 | GAA | c.1609_1610delinsGA (p.Glu537=) | |
17 | g.80110999del | CA8815391 | GAA | c.1610del (p.Glu537GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110999A>C | CA401367311 | GAA | c.1610A>C (p.Glu537Ala) | |
17 | g.80110999A>G | CA401367312 | GAA | c.1610A>G (p.Glu537Gly) | |
17 | g.80110999A>T | CA401367313 | GAA | c.1610A>T (p.Glu537Val) | |
17 | g.80111000G>A | CA502178715 | GAA | c.1611G>A (p.Glu537=) | |
17 | g.80111000G>C | CA401367314 | GAA | c.1611G>C (p.Glu537Asp) | |
17 | g.80111000G= | CA2277814218 | GAA | c.1611G= (p.Glu537=) | |
17 | g.80111000G>T | CA401367315 | GAA | c.1611G>T (p.Glu537Asp) | ClinVar dbSNP gnomAD v4 |
17 | g.80111001C>A | CA401367316 | GAA | c.1612C>A (p.Leu538Met) | |
17 | g.80111001C= | CA2277814219 | GAA | c.1612C= (p.Leu538=) | |
17 | g.80111001C>G | CA401367317 | GAA | c.1612C>G (p.Leu538Val) | |
17 | g.80111001C>T | CA502178716 | GAA | c.1612C>T (p.Leu538=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80111002T>A | CA401367318 | GAA | c.1613T>A (p.Leu538Gln) c.1T>A | |
17 | g.80111002T>C | CA401367319 | GAA | c.1613T>C (p.Leu538Pro) c.1T>C | |
17 | g.80111002T>G | CA401367320 | GAA | c.1613T>G (p.Leu538Arg) c.1T>G | |
17 | g.80111003G>A | CA502178719 | GAA | c.1614G>A (p.Leu538=) c.2G>A | gnomAD v4 |
17 | g.80111003G>C | CA502178717 | GAA | c.1614G>C (p.Leu538=) c.2G>C | |
17 | g.80111003G>T | CA502178718 | GAA | c.1614G>T (p.Leu538=) c.2G>T | |
17 | g.80111004del | CA2839584135 | GAA | c.1615del (p.Glu539ArgfsTer?) c.3del | |
17 | g.80111004G>A | CA401367321 | GAA | c.1615G>A (p.Glu539Lys) c.3G>A | |
17 | g.80111004G>C | CA401367322 | GAA | c.1615G>C (p.Glu539Gln) c.3G>C | |
17 | g.80111004G= | CA2277814220 | GAA | c.1615G= (p.Glu539=) c.3G= | |
17 | g.80111004G>T | CA401367323 | GAA | c.1615G>T (p.Glu539Ter) c.3G>T | dbSNP gnomAD v3 gnomAD v4 |