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.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.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 |
17 | g.80111005A>C | CA401367324 | GAA | c.1616A>C (p.Glu539Ala) c.4A>C | |
17 | g.80111005A>G | CA401367325 | GAA | c.1616A>G (p.Glu539Gly) c.4A>G | ClinVar |
17 | g.80111005A>T | CA401367326 | GAA | c.1616A>T (p.Glu539Val) c.4A>T | gnomAD v4 |
17 | g.80111006G>A | CA502178720 | GAA | c.1617G>A (p.Glu539=) c.5G>A | |
17 | g.80111006G>C | CA401367327 | GAA | c.1617G>C (p.Glu539Asp) c.5G>C | |
17 | g.80111006G>T | CA401367328 | GAA | c.1617G>T (p.Glu539Asp) c.5G>T | |
17 | g.80111007A>C | CA401367331 | GAA | c.1618A>C (p.Asn540His) c.6A>C | |
17 | g.80111007A>G | CA401367330 | GAA | c.1618A>G (p.Asn540Asp) c.6A>G | gnomAD v4 |
17 | g.80111007A>T | CA401367329 | GAA | c.1618A>T (p.Asn540Tyr) c.6A>T | |
17 | g.80111008A= | CA2277814221 | GAA | c.1619A= (p.Asn540=) c.7A= | |
17 | g.80111008A>C | CA401367332 | GAA | c.1619A>C (p.Asn540Thr) c.7A>C | |
17 | g.80111008A>G | CA401367333 | GAA | c.1619A>G (p.Asn540Ser) c.7A>G | ClinVar dbSNP gnomAD v4 |
17 | g.80111008A>T | CA401367334 | GAA | c.1619A>T (p.Asn540Ile) c.7A>T | |
17 | g.80111009C>A | CA401367335 | GAA | c.1620C>A (p.Asn540Lys) c.8C>A | gnomAD v4 |
17 | g.80111009C= | CA2277814222 | GAA | c.1620C= (p.Asn540=) c.8C= | |
17 | g.80111009C>G | CA401367336 | GAA | c.1620C>G (p.Asn540Lys) c.8C>G | gnomAD v4 |
17 | g.80111009C>T | CA8815392 | GAA | c.1620C>T (p.Asn540=) c.8C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111010_80111011del | CA2831038988 | GAA | c.1621_1622del (p.Pro541ThrfsTer?) c.9_10del | |
17 | g.80111010C>A | CA401367337 | GAA | c.1621C>A (p.Pro541Thr) c.9C>A | |
17 | g.80111010C>G | CA401367338 | GAA | c.1621C>G (p.Pro541Ala) c.9C>G | |
17 | g.80111010C>T | CA401367339 | GAA | c.1621C>T (p.Pro541Ser) c.9C>T | |
17 | g.80111011C>A | CA401367340 | GAA | c.1622C>A (p.Pro541Gln) c.10C>A | gnomAD v4 |
17 | g.80111011C>G | CA401367341 | GAA | c.1622C>G (p.Pro541Arg) c.10C>G | |
17 | g.80111011C>T | CA401367342 | GAA | c.1622C>T (p.Pro541Leu) c.10C>T | |
17 | g.80111012A= | CA2277814223 | GAA | c.1623A= (p.Pro541=) c.11A= | |
17 | g.80111012A>C | CA502178721 | GAA | c.1623A>C (p.Pro541=) c.11A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111012A>G | CA502178722 | GAA | c.1623A>G (p.Pro541=) c.11A>G | |
17 | g.80111012A>T | CA502178723 | GAA | c.1623A>T (p.Pro541=) c.11A>T | |
17 | g.80111012_80111013delinsAC | CA2277814224 | GAA | c.1623_1624delinsAC (p.Pro541=) c.11_12delinsAC | |
17 | g.80111013C>A | CA401367345 | GAA | c.1624C>A (p.Pro542Thr) c.12C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111013C= | CA2277814226 | GAA | c.1624C= (p.Pro542=) c.12C= | |
17 | g.80111013C>G | CA401367347 | GAA | c.1624C>G (p.Pro542Ala) c.12C>G | |
17 | g.80111013C>T | CA8815393 | GAA | c.1624C>T (p.Pro542Ser) c.12C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111015del | CA2277814225 | GAA | c.1626del (p.Tyr543ThrfsTer?) c.14del | dbSNP gnomAD v4 |
17 | g.80111014C>A | CA401367349 | GAA | c.1625C>A (p.Pro542His) c.13C>A | |
17 | g.80111014C= | CA2277814227 | GAA | c.1625C= (p.Pro542=) c.13C= | |
17 | g.80111014C>G | CA401367351 | GAA | c.1625C>G (p.Pro542Arg) c.13C>G | |
17 | g.80111014C>T | CA401367352 | GAA | c.1625C>T (p.Pro542Leu) c.13C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80111015C>A | CA502178724 | GAA | c.1626C>A (p.Pro542=) c.14C>A | |
17 | g.80111015C= | CA2277814228 | GAA | c.1626C= (p.Pro542=) c.14C= | |
17 | g.80111015C>G | CA294895065 | GAA | c.1626C>G (p.Pro542=) c.14C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111015C>T | CA502178725 | GAA | c.1626C>T (p.Pro542=) c.14C>T | dbSNP |
17 | g.80111016T>A | CA401367354 | GAA | c.1627T>A (p.Tyr543Asn) c.15T>A | |
17 | g.80111016T>C | CA401367355 | GAA | c.1627T>C (p.Tyr543His) c.15T>C | |
17 | g.80111016T>G | CA401367357 | GAA | c.1627T>G (p.Tyr543Asp) c.15T>G | |
17 | g.80111017A= | CA2277814229 | GAA | c.1628A= (p.Tyr543=) c.16A= | |
17 | g.80111017A>C | CA401367364 | GAA | c.1628A>C (p.Tyr543Ser) c.16A>C | |
17 | g.80111017A>G | CA401367360 | GAA | c.1628A>G (p.Tyr543Cys) c.16A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111017A>T | CA401367362 | GAA | c.1628A>T (p.Tyr543Phe) c.16A>T | |
17 | g.80111018C>A | CA401367366 | GAA | c.1629C>A (p.Tyr543Ter) c.17C>A | |
17 | g.80111018C= | CA2277814230 | GAA | c.1629C= (p.Tyr543=) c.17C= | |
17 | g.80111018C>G | CA401367368 | GAA | c.1629C>G (p.Tyr543Ter) c.17C>G | |
17 | g.80111018C>T | CA8815394 | GAA | c.1629C>T (p.Tyr543=) c.17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111018_80111019delinsCG | CA2277814231 | GAA | c.1629_1630delinsCG (p.Tyr543=) c.17_18delinsCG | |
17 | g.80111018_80111019delinsTA | CA915952253 | GAA | c.1629_1630delinsTA (p.Val544Met) c.17_18delinsTA | ClinVar dbSNP |
17 | g.80111019G>A | CA8815395 | GAA | c.1630G>A (p.Val544Met) c.18G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111019G>C | CA401367371 | GAA | c.1630G>C (p.Val544Leu) c.18G>C | |
17 | g.80111019G= | CA2277814232 | GAA | c.1630G= (p.Val544=) c.18G= | |
17 | g.80111019G>T | CA401367373 | GAA | c.1630G>T (p.Val544Leu) c.18G>T | |
17 | g.80111020T>A | CA401367375 | GAA | c.1631T>A (p.Val544Glu) c.19T>A | ClinVar dbSNP |
17 | g.80111020T>C | CA401367378 | GAA | c.1631T>C (p.Val544Ala) c.19T>C | |
17 | g.80111020T>G | CA401367376 | GAA | c.1631T>G (p.Val544Gly) c.19T>G | |
17 | g.80111020T= | CA2277814233 | GAA | c.1631T= (p.Val544=) c.19T= | |
17 | g.80111021G>A | CA502178731 | GAA | c.1632G>A (p.Val544=) c.20G>A | |
17 | g.80111021G>C | CA502178734 | GAA | c.1632G>C (p.Val544=) c.20G>C | ClinVar |
17 | g.80111021G>T | CA502178733 | GAA | c.1632G>T (p.Val544=) c.20G>T | ClinVar gnomAD v4 |
17 | g.80111022C>A | CA401367380 | GAA | c.1633C>A (p.Pro545Thr) c.21C>A | |
17 | g.80111022C>G | CA401367382 | GAA | c.1633C>G (p.Pro545Ala) c.21C>G | |
17 | g.80111022C>T | CA401367384 | GAA | c.1633C>T (p.Pro545Ser) c.21C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80111023C>A | CA401367386 | GAA | c.1634C>A (p.Pro545His) c.22C>A | |
17 | g.80111023C= | CA2277814234 | GAA | c.1634C= (p.Pro545=) c.22C= | |
17 | g.80111023C>G | CA401367388 | GAA | c.1634C>G (p.Pro545Arg) c.22C>G | |
17 | g.80111023C>T | CA116616 | GAA | c.1634C>T (p.Pro545Leu) c.22C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111024T>A | CA502178737 | GAA | c.1635T>A (p.Pro545=) c.23T>A | ClinVar |
17 | g.80111024T>C | CA502178738 | GAA | c.1635T>C (p.Pro545=) c.23T>C | gnomAD v4 |
17 | g.80111024T>G | CA502178739 | GAA | c.1635T>G (p.Pro545=) c.23T>G | |
17 | g.80111025G>A | CA401367391 | GAA | c.1636G>A (p.Gly546Arg) c.24G>A | gnomAD v4 |
17 | g.80111025G>C | CA401367392 | GAA | c.1636G>C (p.Gly546Arg) c.24G>C | |
17 | g.80111025G>T | CA401367394 | GAA | c.1636G>T (p.Gly546Trp) c.24G>T | |
17 | g.80111026G>A | CA401367396 | GAA | c.1636+1G>A (n.1636+1G>A) c.24+1G>A | ClinVar |
17 | g.80111026G>C | CA401367398 | GAA | c.1636+1G>C (n.1636+1G>C) c.24+1G>C | |
17 | g.80111026G>T | CA401367400 | GAA | c.1636+1G>T (n.1636+1G>T) c.24+1G>T | dbSNP |
17 | g.80111027T>A | CA401367402 | GAA | c.1636+2T>A (n.1636+2T>A) c.24+2T>A | |
17 | g.80111027T>C | CA401367405 | GAA | c.1636+2T>C (n.1636+2T>C) c.24+2T>C | |
17 | g.80111027T>G | CA401367403 | GAA | c.1636+2T>G (n.1636+2T>G) c.24+2T>G | |
17 | g.80111029A= | CA2277814236 | GAA | c.1636+4A= (n.1636+4A=) c.24+4A= | |
17 | g.80111029A>G | CA627699648 | GAA | c.1636+4A>G (n.1636+4A>G) c.24+4A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111029A>T | CA2277814235 | GAA | c.1636+4A>T (n.1636+4A>T) c.24+4A>T | dbSNP |
17 | g.80111030G>A | CA2695227098 | GAA | c.1636+5G>A (n.1636+5G>A) c.24+5G>A | |
17 | g.80111030G>C | CA658795261 | GAA | c.1636+5G>C (n.1636+5G>C) c.24+5G>C | gnomAD v4 |
17 | g.80111030G>T | CA658795260 | GAA | c.1636+5G>T (n.1636+5G>T) c.24+5G>T | gnomAD v4 |
17 | g.80111031C= | CA2277814237 | GAA | c.1636+6C= (n.1636+6C=) c.24+6C= | |
17 | g.80111031C>T | CA627699649 | GAA | c.1636+6C>T (n.1636+6C>T) c.24+6C>T | dbSNP gnomAD v2 |
17 | g.80111032del | CA2697555228 | GAA | c.1636+7del (n.1636+7del) c.24+7del | ClinVar |
17 | g.80111032T>C | CA294895083 | GAA | c.1636+7T>C (n.1636+7T>C) c.24+7T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111032T= | CA2277814238 | GAA | c.1636+7T= (n.1636+7T=) c.24+7T= | |
17 | g.80111033C= | CA2277814239 | GAA | c.1636+8C= (n.1636+8C=) c.24+8C= | |
17 | g.80111033C>T | CA8815396 | GAA | c.1636+8C>T (n.1636+8C>T) c.24+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111034G>A | CA8815399 | GAA | c.1636+9G>A (n.1636+9G>A) c.24+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111034G= | CA2277814240 | GAA | c.1636+9G= (n.1636+9G=) c.24+9G= | |
17 | g.80111034G>T | CA8815397 | GAA | c.1636+9G>T (n.1636+9G>T) c.24+9G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111035C>A | CA8815400 | GAA | c.1636+10C>A (n.1636+10C>A) c.24+10C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111035C= | CA2277814241 | GAA | c.1636+10C= (n.1636+10C=) c.24+10C= | |
17 | g.80111035C>G | CA2573154979 | GAA | c.1636+10C>G (n.1636+10C>G) c.24+10C>G | ClinVar dbSNP |
17 | g.80111035C>T | CA8815401 | GAA | c.1636+10C>T (n.1636+10C>T) c.24+10C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111040dup | CA8815398 | GAA | c.1636+15dup (n.1636+15dup) c.24+15dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111040del | CA2640289126 | GAA | c.1636+15del (n.1636+15del) c.24+15del | gnomAD v4 |
17 | g.80111036C>T | CA2739268479 | GAA | c.1636+11C>T (n.1636+11C>T) c.24+11C>T | ClinVar |
17 | g.80111037C>G | CA2739268480 | GAA | c.1636+12C>G (n.1636+12C>G) c.24+12C>G | ClinVar |
17 | g.80111037C>T | CA2580095761 | GAA | c.1636+12C>T (n.1636+12C>T) c.24+12C>T | ClinVar |
17 | g.80111038C>A | CA2810585824 | GAA | c.1636+13C>A (n.1636+13C>A) c.24+13C>A | |
17 | g.80111038C>T | CA2576414111 | GAA | c.1636+13C>T (n.1636+13C>T) c.24+13C>T | |
17 | g.80111039C>A | CA2576414112 | GAA | c.1636+14C>A (n.1636+14C>A) c.24+14C>A | |
17 | g.80111039C= | CA2277814242 | GAA | c.1636+14C= (n.1636+14C=) c.24+14C= | |
17 | g.80111039C>G | CA2733932631 | GAA | c.1636+14C>G (n.1636+14C>G) c.24+14C>G | dbSNP |
17 | g.80111039C>T | CA8815402 | GAA | c.1636+14C>T (n.1636+14C>T) c.24+14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111040C>A | CA2576414113 | GAA | c.1636+15C>A (n.1636+15C>A) c.24+15C>A | gnomAD v4 |
17 | g.80111040C= | CA2277814243 | GAA | c.1636+15C= (n.1636+15C=) c.24+15C= | |
17 | g.80111040C>G | CA2580095762 | GAA | c.1636+15C>G (n.1636+15C>G) c.24+15C>G | ClinVar gnomAD v4 |
17 | g.80111040C>T | CA2277814244 | GAA | c.1636+15C>T (n.1636+15C>T) c.24+15C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80111041A>G | CA2576414114 | GAA | c.1636+16A>G (n.1636+16A>G) c.24+16A>G | |
17 | g.80111042C= | CA2277814245 | GAA | c.1636+17C= (n.1636+17C=) c.24+17C= | |
17 | g.80111042C>T | CA294895124 | GAA | c.1636+17C>T (n.1636+17C>T) c.24+17C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111043C= | CA2277814246 | GAA | c.1636+18C= (n.1636+18C=) c.24+18C= | |
17 | g.80111043C>G | CA2640289160 | GAA | c.1636+18C>G (n.1636+18C>G) c.24+18C>G | gnomAD v4 |
17 | g.80111043C>T | CA8815403 | GAA | c.1636+18C>T (n.1636+18C>T) c.24+18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111044T>A | CA2640289165 | GAA | c.1636+19T>A (n.1636+19T>A) c.24+19T>A | ClinVar gnomAD v4 |
17 | g.80111045A= | CA2277814247 | GAA | c.1636+20A= (n.1636+20A=) c.24+20A= | |
17 | g.80111045A>T | CA2277814248 | GAA | c.1636+20A>T (n.1636+20A>T) c.24+20A>T | dbSNP gnomAD v4 |
17 | g.80111047C>A | CA2640289169 | GAA | c.1636+22C>A (n.1636+22C>A) c.24+22C>A | gnomAD v4 |
17 | g.80111047C= | CA2277814249 | GAA | c.1636+22C= (n.1636+22C=) c.24+22C= | |
17 | g.80111047C>G | CA8815404 | GAA | c.1636+22C>G (n.1636+22C>G) c.24+22C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111047C>T | CA627699650 | GAA | c.1636+22C>T (n.1636+22C>T) c.24+22C>T | dbSNP gnomAD v2 |
17 | g.80111048C>A | CA2640289173 | GAA | c.1636+23C>A (n.1636+23C>A) c.24+23C>A | gnomAD v4 |
17 | g.80111048C>G | CA2640289182 | GAA | c.1636+23C>G (n.1636+23C>G) c.24+23C>G | gnomAD v4 |
17 | g.80111048_80111049delinsCT | CA2277814250 | GAA | c.1636+23_1636+24delinsCT (n.1636+23_1636+24delinsCT) c.24+23_24+24delinsCT | |
17 | g.80111049del | CA8815405 | GAA | c.1636+24del (n.1636+24del) c.24+24del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111049T>C | CA2277814251 | GAA | c.1636+24T>C (n.1636+24T>C) c.24+24T>C | dbSNP |
17 | g.80111049T>G | CA2640289198 | GAA | c.1636+24T>G (n.1636+24T>G) c.24+24T>G | gnomAD v4 |
17 | g.80111049T= | CA2277814252 | GAA | c.1636+24T= (n.1636+24T=) c.24+24T= | |
17 | g.80111050G>A | CA2640289205 | GAA | c.1636+25G>A (n.1636+25G>A) c.24+25G>A | gnomAD v4 |
17 | g.80111050G>T | CA2640289206 | GAA | c.1636+25G>T (n.1636+25G>T) c.24+25G>T | gnomAD v4 |
17 | g.80111053del | CA2640289203 | GAA | c.1636+28del (n.1636+28del) c.24+28del | gnomAD v4 |
17 | g.80111051G>A | CA2576414115 | GAA | c.1636+26G>A (n.1636+26G>A) c.24+26G>A | |
17 | g.80111052G>C | CA2640289211 | GAA | c.1636+27G>C (n.1636+27G>C) c.24+27G>C | gnomAD v4 |
17 | g.80111053G>A | CA8815407 | GAA | c.1636+28G>A (n.1636+28G>A) c.24+28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111053G>C | CA775516999 | GAA | c.1636+28G>C (n.1636+28G>C) c.24+28G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80111053G= | CA2277814253 | GAA | c.1636+28G= (n.1636+28G=) c.24+28G= | |
17 | g.80111053G>T | CA8815406 | GAA | c.1636+28G>T (n.1636+28G>T) c.24+28G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111055C>A | CA2640289224 | GAA | c.1636+30C>A (n.1636+30C>A) c.24+30C>A | gnomAD v4 |
17 | g.80111055C>T | CA2640289226 | GAA | c.1636+30C>T (n.1636+30C>T) c.24+30C>T | gnomAD v4 |
17 | g.80111057T>A | CA775517004 | GAA | c.1636+32T>A (n.1636+32T>A) c.24+32T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80111057T= | CA2277814254 | GAA | c.1636+32T= (n.1636+32T=) c.24+32T= | |
17 | g.80111058A>C | CA2640289231 | GAA | c.1636+33A>C (n.1636+33A>C) c.24+33A>C | gnomAD v4 |
17 | g.80111061C>A | CA2640289234 | GAA | c.1636+36C>A (n.1636+36C>A) c.24+36C>A | gnomAD v4 |
17 | g.80111061_80111062delinsCA | CA2277814255 | GAA | c.1636+36_1636+37delinsCA (n.1636+36_1636+37delinsCA) c.24+36_24+37delinsCA | |
17 | g.80111064del | CA8815408 | GAA | c.1636+39del (n.1636+39del) c.24+39del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111064A>G | CA2640289239 | GAA | c.1636+39A>G (n.1636+39A>G) c.24+39A>G | gnomAD v4 |
17 | g.80111065T>C | CA627699651 | GAA | c.1636+40T>C (n.1636+40T>C) c.24+40T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111065T= | CA2277814256 | GAA | c.1636+40T= (n.1636+40T=) c.24+40T= | |
17 | g.80111066C>A | CA2576414116 | GAA | c.1636+41C>A (n.1636+41C>A) c.24+41C>A | gnomAD v4 |
17 | g.80111066_80111068delinsCAG | CA2277814257 | GAA | c.1636+41_1636+43delinsCAG (n.1636+41_1636+43delinsCAG) c.24+41_24+43delinsCAG | |
17 | g.80111070_80111071del | CA627699652 | GAA | c.1636+45_1636+46del (n.1636+45_1636+46del) c.24+45_24+46del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80111068G>A | CA2581285038 | GAA | c.1636+43G>A (n.1636+43G>A) c.24+43G>A | |
17 | g.80111068G>C | CA2581285037 | GAA | c.1636+43G>C (n.1636+43G>C) c.24+43G>C | |
17 | g.80111068G= | CA2277814258 | GAA | c.1636+43G= (n.1636+43G=) c.24+43G= | |
17 | g.80111068G>T | CA8815409 | GAA | c.1636+43G>T (n.1636+43G>T) c.24+43G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111069A>T | CA2640289247 | GAA | c.1636+44A>T (n.1636+44A>T) c.24+44A>T | gnomAD v4 |
17 | g.80111070G>A | CA2640289248 | GAA | c.1636+45G>A (n.1636+45G>A) c.24+45G>A | gnomAD v4 |
17 | g.80111071A= | CA2277814259 | GAA | c.1636+46A= (n.1636+46A=) c.24+46A= | |
17 | g.80111071A>C | CA2640289249 | GAA | c.1636+46A>C (n.1636+46A>C) c.24+46A>C | gnomAD v4 |
17 | g.80111071A>G | CA775517012 | GAA | c.1636+46A>G (n.1636+46A>G) c.24+46A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80111071A>T | CA2640289250 | GAA | c.1636+46A>T (n.1636+46A>T) c.24+46A>T | dbSNP gnomAD v4 |
17 | g.80111072C>A | CA2576414117 | GAA | c.1636+47C>A (n.1636+47C>A) c.24+47C>A | |
17 | g.80111073T>C | CA8815410 | GAA | c.1636+48T>C (n.1636+48T>C) c.24+48T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80111073T= | CA2277814260 | GAA | c.1636+48T= (n.1636+48T=) c.24+48T= | |
17 | g.80111074C= | CA2277814261 | GAA | c.1636+49C= (n.1636+49C=) c.24+49C= | |
17 | g.80111074C>G | CA2640289253 | GAA | c.1636+49C>G (n.1636+49C>G) c.24+49C>G | gnomAD v4 |
17 | g.80111074C>T | CA2277814262 | GAA | c.1636+49C>T (n.1636+49C>T) c.24+49C>T | dbSNP gnomAD v4 |
17 | g.80111075C= | CA2277814263 | GAA | c.1636+50C= (n.1636+50C=) c.24+50C= | |
17 | g.80111075C>T | CA8815411 | GAA | c.1636+50C>T (n.1636+50C>T) c.24+50C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111078_80111087dup | CA2640289254 | GAA | c.1636+53_1636+62dup (n.1636+53_1636+62dup) c.24+53_24+62dup | gnomAD v4 |
17 | g.80111076C>T | CA2576414118 | GAA | c.1636+51C>T (n.1636+51C>T) c.24+51C>T | |
17 | g.80111078T>C | CA986707449 | GAA | c.1636+53T>C (n.1636+53T>C) c.24+53T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80111078T= | CA2277814264 | GAA | c.1636+53T= (n.1636+53T=) c.24+53T= | |
17 | g.80111079G>A | CA2640289260 | GAA | c.1636+54G>A (n.1636+54G>A) c.24+54G>A | gnomAD v4 |
17 | g.80111079G>C | CA294895137 | GAA | c.1636+54G>C (n.1636+54G>C) c.24+54G>C | dbSNP gnomAD v4 |
17 | g.80111079G= | CA2277814265 | GAA | c.1636+54G= (n.1636+54G=) c.24+54G= | |
17 | g.80111079G>T | CA2640289264 | GAA | c.1636+54G>T (n.1636+54G>T) c.24+54G>T | gnomAD v4 |
17 | g.80111080T>A | CA2576414119 | GAA | c.1636+55T>A (n.1636+55T>A) c.24+55T>A | |
17 | g.80111081C>A | CA2576414120 | GAA | c.1636+56C>A (n.1636+56C>A) c.24+56C>A | gnomAD v4 |
17 | g.80111081C>G | CA2640289265 | GAA | c.1636+56C>G (n.1636+56C>G) c.24+56C>G | gnomAD v4 |
17 | g.80111082T>A | CA2640289266 | GAA | c.1636+57T>A (n.1636+57T>A) c.24+57T>A | gnomAD v4 |
17 | g.80111082T>G | CA2640289267 | GAA | c.1636+57T>G (n.1636+57T>G) c.24+57T>G | gnomAD v4 |
17 | g.80111083G>A | CA2640289268 | GAA | c.1636+58G>A (n.1636+58G>A) c.24+58G>A | gnomAD v4 |
17 | g.80111083G>T | CA2640289270 | GAA | c.1636+58G>T (n.1636+58G>T) c.24+58G>T | gnomAD v4 |
17 | g.80111084G>A | CA2576414121 | GAA | c.1636+59G>A (n.1636+59G>A) c.24+59G>A | gnomAD v4 |
17 | g.80111084G>T | CA2576414122 | GAA | c.1636+59G>T (n.1636+59G>T) c.24+59G>T | gnomAD v4 |
17 | g.80111085C>A | CA2640289273 | GAA | c.1636+60C>A (n.1636+60C>A) c.24+60C>A | gnomAD v4 |
17 | g.80111085C= | CA2277814266 | GAA | c.1636+60C= (n.1636+60C=) c.24+60C= | |
17 | g.80111085C>T | CA294895145 | GAA | c.1636+60C>T (n.1636+60C>T) c.24+60C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80111086C>A | CA2576414123 | GAA | c.1636+61C>A (n.1636+61C>A) c.24+61C>A | gnomAD v4 |
17 | g.80111086C>G | CA2640289275 | GAA | c.1636+61C>G (n.1636+61C>G) c.24+61C>G | gnomAD v4 |
17 | g.80111096_80111183del | CA2640289274 | GAA | c.1636+71_1636+158del (n.1636+71_1636+158del) c.24+71_24+158del | gnomAD v4 |
17 | g.80111087T>A | CA2576414124 | GAA | c.1636+62T>A (n.1636+62T>A) c.24+62T>A | |
17 | g.80111088G>A | CA294895152 | GAA | c.1636+63G>A (n.1636+63G>A) c.24+63G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80111088G= | CA2277814267 | GAA | c.1636+63G= (n.1636+63G=) c.24+63G= | |
17 | g.80111088G>T | CA2576414125 | GAA | c.1636+63G>T (n.1636+63G>T) c.24+63G>T | |
17 | g.80111089G>C | CA2640289276 | GAA | c.1636+64G>C (n.1636+64G>C) c.24+64G>C | gnomAD v4 |
17 | g.80111092G>T | CA2640289277 | GAA | c.1636+67G>T (n.1636+67G>T) c.24+67G>T | gnomAD v4 |
17 | g.80111093A>T | CA2640289278 | GAA | c.1636+68A>T (n.1636+68A>T) c.24+68A>T | gnomAD v4 |
17 | g.80111094C>A | CA2640289279 | GAA | c.1636+69C>A (n.1636+69C>A) c.24+69C>A | gnomAD v4 |
17 | g.80111096T>A | CA2640289280 | GAA | c.1636+71T>A (n.1636+71T>A) c.24+71T>A | gnomAD v4 |