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.80110865T>C | CA8815368 | GAA | c.1551+25T>C (n.1551+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110865T= | CA2277814140 | GAA | c.1551+25T= (n.1551+25T=) | |
17 | g.80110867C>A | CA2640288710 | GAA | c.1551+27C>A (n.1551+27C>A) | gnomAD v4 |
17 | g.80110868C= | CA2277814141 | GAA | c.1551+28C= (n.1551+28C=) | |
17 | g.80110868C>G | CA775516719 | GAA | c.1551+28C>G (n.1551+28C>G) | dbSNP gnomAD v4 |
17 | g.80110869C>T | CA2640288711 | GAA | c.1551+29C>T (n.1551+29C>T) | gnomAD v4 |
17 | g.80110870_80110871insG | CA2576414103 | GAA | c.1551+30_1551+31insG (n.1551+30_1551+31insG) | gnomAD v4 |
17 | g.80110874C>A | CA2640288712 | GAA | c.1551+34C>A (n.1551+34C>A) | gnomAD v4 |
17 | g.80110875C= | CA2277814142 | GAA | c.1551+35C= (n.1551+35C=) | |
17 | g.80110875C>G | CA2640288713 | GAA | c.1551+35C>G (n.1551+35C>G) | gnomAD v4 |
17 | g.80110875C>T | CA8815369 | GAA | c.1551+35C>T (n.1551+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110876T>C | CA2640288714 | GAA | c.1551+36T>C (n.1551+36T>C) | gnomAD v4 |
17 | g.80110877del | CA2576414104 | GAA | c.1551+37del (n.1551+37del) | gnomAD v4 |
17 | g.80110882_80110883insTAGTCCCCAGAGGCCTTGGGG | CA2640288715 | GAA | c.1551+42_1551+43insTAGTCCCCAGAGGCCTTGGGG (n.1551+42_1551+43insTAGTCCCCAGAGGCCTTGGGG) | gnomAD v4 |
17 | g.80110879G>A | CA8815370 | GAA | c.1551+39G>A (n.1551+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110879G= | CA2277814143 | GAA | c.1551+39G= (n.1551+39G=) | |
17 | g.80110879G>T | CA2576414105 | GAA | c.1551+39G>T (n.1551+39G>T) | |
17 | g.80110882del | CA2640288716 | GAA | c.1551+42del (n.1551+42del) | gnomAD v4 |
17 | g.80110882G>A | CA8815371 | GAA | c.1551+42G>A (n.1551+42G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110882G>C | CA2581285034 | GAA | c.1551+42G>C (n.1551+42G>C) | |
17 | g.80110882G= | CA2277814144 | GAA | c.1551+42G= (n.1551+42G=) | |
17 | g.80110882G>T | CA2581285035 | GAA | c.1551+42G>T (n.1551+42G>T) | |
17 | g.80110884C= | CA2277814145 | GAA | c.1551+44C= (n.1551+44C=) | |
17 | g.80110884C>T | CA2277814146 | GAA | c.1551+44C>T (n.1551+44C>T) | dbSNP |
17 | g.80110887C>A | CA627699584 | GAA | c.1551+47C>A (n.1551+47C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110887C= | CA2277814147 | GAA | c.1551+47C= (n.1551+47C=) | |
17 | g.80110887C>T | CA2640288719 | GAA | c.1551+47C>T (n.1551+47C>T) | gnomAD v4 |
17 | g.80110889C>A | CA8815372 | GAA | c.1551+49C>A (n.1551+49C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110889C= | CA2277814148 | GAA | c.1551+49C= (n.1551+49C=) | |
17 | g.80110889C>G | CA2581285036 | GAA | c.1551+49C>G (n.1551+49C>G) | |
17 | g.80110889C>T | CA775516729 | GAA | c.1551+49C>T (n.1551+49C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110890C>A | CA2640288724 | GAA | c.1552-51C>A (n.1552-51C>A) | gnomAD v4 |
17 | g.80110890_80110891insCACCAAACAC | CA2810585814 | GAA | c.1552-51_1552-50insCACCAAACAC (n.1552-51_1552-50insCACCAAACAC) | |
17 | g.80110891A= | CA2277814149 | GAA | c.1552-50A= (n.1552-50A=) | |
17 | g.80110891A>T | CA627699585 | GAA | c.1552-50A>T (n.1552-50A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110892C>A | CA2640288725 | GAA | c.1552-49C>A (n.1552-49C>A) | gnomAD v4 |
17 | g.80110892C= | CA2277814150 | GAA | c.1552-49C= (n.1552-49C=) | |
17 | g.80110892C>T | CA627699586 | GAA | c.1552-49C>T (n.1552-49C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110893C>A | CA2277814152 | GAA | c.1552-48C>A (n.1552-48C>A) | dbSNP gnomAD v4 |
17 | g.80110893C= | CA2277814151 | GAA | c.1552-48C= (n.1552-48C=) | |
17 | g.80110893C>G | CA2640288728 | GAA | c.1552-48C>G (n.1552-48C>G) | gnomAD v4 |
17 | g.80110893C>T | CA8815373 | GAA | c.1552-48C>T (n.1552-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110894C>G | CA2576414106 | GAA | c.1552-47C>G (n.1552-47C>G) | gnomAD v4 |
17 | g.80110894C>T | CA2640288735 | GAA | c.1552-47C>T (n.1552-47C>T) | gnomAD v4 |
17 | g.80110896C= | CA2277814153 | GAA | c.1552-45C= (n.1552-45C=) | |
17 | g.80110896C>T | CA8815374 | GAA | c.1552-45C>T (n.1552-45C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80110897C>T | CA2576414107 | GAA | c.1552-44C>T (n.1552-44C>T) | dbSNP gnomAD v4 |
17 | g.80110899C= | CA2277814154 | GAA | c.1552-42C= (n.1552-42C=) | |
17 | g.80110899C>T | CA8815375 | GAA | c.1552-42C>T (n.1552-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110900A>G | CA2640288742 | GAA | c.1552-41A>G (n.1552-41A>G) | gnomAD v4 |
17 | g.80110901C= | CA2277814155 | GAA | c.1552-40C= (n.1552-40C=) | |
17 | g.80110901C>T | CA627699587 | GAA | c.1552-40C>T (n.1552-40C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110903C= | CA2277814156 | GAA | c.1552-38C= (n.1552-38C=) | |
17 | g.80110903C>G | CA775516739 | GAA | c.1552-38C>G (n.1552-38C>G) | dbSNP |
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= | 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) |