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.80110812A>C | CA401367101 | GAA | c.1523A>C (p.Asp508Ala) | |
17 | g.80110812A>G | CA401367102 | GAA | c.1523A>G (p.Asp508Gly) | |
17 | g.80110812A>T | CA401367103 | GAA | c.1523A>T (p.Asp508Val) | |
17 | g.80110813C>A | CA401367105 | GAA | c.1524C>A (p.Asp508Glu) | |
17 | g.80110813C>G | CA401367104 | GAA | c.1524C>G (p.Asp508Glu) | |
17 | g.80110813C>T | CA502178584 | GAA | c.1524C>T (p.Asp508=) | gnomAD v4 |
17 | g.80110814C>A | CA401367106 | GAA | c.1525C>A (p.Gln509Lys) | |
17 | g.80110814C>G | CA401367108 | GAA | c.1525C>G (p.Gln509Glu) | |
17 | g.80110814C>T | CA401367107 | GAA | c.1525C>T (p.Gln509Ter) | ClinVar |
17 | g.80110815A= | CA2277814101 | GAA | c.1526A= (p.Gln509=) | |
17 | g.80110815A>C | CA401367109 | GAA | c.1526A>C (p.Gln509Pro) | |
17 | g.80110815A>G | CA401367110 | GAA | c.1526A>G (p.Gln509Arg) | |
17 | g.80110815A>T | CA401367111 | GAA | c.1526A>T (p.Gln509Leu) | dbSNP |
17 | g.80110816G>A | CA502178586 | GAA | c.1527G>A (p.Gln509=) | ClinVar |
17 | g.80110816G>C | CA401367112 | GAA | c.1527G>C (p.Gln509His) | |
17 | g.80110816G>T | CA401367113 | GAA | c.1527G>T (p.Gln509His) | |
17 | g.80110817G>A | CA401367114 | GAA | c.1528G>A (p.Val510Met) | gnomAD v4 |
17 | g.80110817G>C | CA401367115 | GAA | c.1528G>C (p.Val510Leu) | |
17 | g.80110817G>T | CA401367116 | GAA | c.1528G>T (p.Val510Leu) | |
17 | g.80110818T>A | CA401367117 | GAA | c.1529T>A (p.Val510Glu) | |
17 | g.80110818T>C | CA401367118 | GAA | c.1529T>C (p.Val510Ala) | |
17 | g.80110818T>G | CA294894901 | GAA | c.1529T>G (p.Val510Gly) | dbSNP |
17 | g.80110818T= | CA2277814102 | GAA | c.1529T= (p.Val510=) | |
17 | g.80110819G>A | CA502178591 | GAA | c.1530G>A (p.Val510=) | dbSNP |
17 | g.80110819G>C | CA502178593 | GAA | c.1530G>C (p.Val510=) | |
17 | g.80110819G>T | CA502178594 | GAA | c.1530G>T (p.Val510=) | |
17 | g.80110820C>A | CA401367121 | GAA | c.1531C>A (p.Pro511Thr) | |
17 | g.80110820C>G | CA401367120 | GAA | c.1531C>G (p.Pro511Ala) | |
17 | g.80110820C>T | CA401367119 | GAA | c.1531C>T (p.Pro511Ser) | gnomAD v4 |
17 | g.80110821C>A | CA401367122 | GAA | c.1532C>A (p.Pro511His) | |
17 | g.80110821C= | CA2277814103 | GAA | c.1532C= (p.Pro511=) | |
17 | g.80110821C>G | CA401367123 | GAA | c.1532C>G (p.Pro511Arg) | |
17 | g.80110821C>T | CA294894906 | GAA | c.1532C>T (p.Pro511Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.80110822C>A | CA502178597 | GAA | c.1533C>A (p.Pro511=) | |
17 | g.80110822C= | CA2277814104 | GAA | c.1533C= (p.Pro511=) | |
17 | g.80110822C>G | CA502178599 | GAA | c.1533C>G (p.Pro511=) | ClinVar dbSNP gnomAD v4 |
17 | g.80110822C>T | CA502178600 | GAA | c.1533C>T (p.Pro511=) | |
17 | g.80110823T>A | CA401367124 | GAA | c.1534T>A (p.Phe512Ile) | |
17 | g.80110823T>C | CA401367125 | GAA | c.1534T>C (p.Phe512Leu) | |
17 | g.80110823T>G | CA401367126 | GAA | c.1534T>G (p.Phe512Val) | gnomAD v4 |
17 | g.80110824T>A | CA401367127 | GAA | c.1535T>A (p.Phe512Tyr) | |
17 | g.80110824T>C | CA401367128 | GAA | c.1535T>C (p.Phe512Ser) | |
17 | g.80110824T>G | CA401367129 | GAA | c.1535T>G (p.Phe512Cys) | |
17 | g.80110825C>A | CA8815360 | GAA | c.1536C>A (p.Phe512Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110825C= | CA2277814105 | GAA | c.1536C= (p.Phe512=) | |
17 | g.80110825C>G | CA401367130 | GAA | c.1536C>G (p.Phe512Leu) | |
17 | g.80110825C>T | CA8815359 | GAA | c.1536C>T (p.Phe512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80110826G>A | CA8815361 | GAA | c.1537G>A (p.Asp513Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110826G>C | CA401367132 | GAA | c.1537G>C (p.Asp513His) | gnomAD v4 |
17 | g.80110826G= | CA2277814106 | GAA | c.1537G= (p.Asp513=) | |
17 | g.80110826G>T | CA401367131 | GAA | c.1537G>T (p.Asp513Tyr) | |
17 | g.80110827A= | CA2277814107 | GAA | c.1538A= (p.Asp513=) | |
17 | g.80110827A>C | CA401367133 | GAA | c.1538A>C (p.Asp513Ala) | |
17 | g.80110827A>G | CA401367134 | GAA | c.1538A>G (p.Asp513Gly) | ClinVar dbSNP |
17 | g.80110827A>T | CA401367135 | GAA | c.1538A>T (p.Asp513Val) | |
17 | g.80110828C>A | CA401367136 | GAA | c.1539C>A (p.Asp513Glu) | |
17 | g.80110828C= | CA2277814108 | GAA | c.1539C= (p.Asp513=) | |
17 | g.80110828C>G | CA401367137 | GAA | c.1539C>G (p.Asp513Glu) | gnomAD v4 |
17 | g.80110828C>T | CA8815362 | GAA | c.1539C>T (p.Asp513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110828_80110829delinsCG | CA2277814109 | GAA | c.1539_1540delinsCG (p.Asp513=) | |
17 | g.80110829G>A | CA8815363 | GAA | c.1540G>A (p.Gly514Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110829G>C | CA401367139 | GAA | c.1540G>C (p.Gly514Arg) | |
17 | g.80110829G= | CA2277814111 | GAA | c.1540G= (p.Gly514=) | |
17 | g.80110829G>T | CA401367138 | GAA | c.1540G>T (p.Gly514Cys) | |
17 | g.80110830del | CA2277814110 | GAA | c.1541del (p.Gly514AlafsTer6) | ClinVar dbSNP |
17 | g.80110829_80110832dup | CA2640288557 | GAA | c.1540_1543dup (p.Met515ArgfsTer5) | gnomAD v4 |
17 | g.80110830G>A | CA401367140 | GAA | c.1541G>A (p.Gly514Asp) | |
17 | g.80110830G>C | CA401367141 | GAA | c.1541G>C (p.Gly514Ala) | gnomAD v4 |
17 | g.80110830G>T | CA401367142 | GAA | c.1541G>T (p.Gly514Val) | |
17 | g.80110831C>A | CA502178602 | GAA | c.1542C>A (p.Gly514=) | |
17 | g.80110831C= | CA2277814112 | GAA | c.1542C= (p.Gly514=) | |
17 | g.80110831C>G | CA502178603 | GAA | c.1542C>G (p.Gly514=) | |
17 | g.80110831C>T | CA502178604 | GAA | c.1542C>T (p.Gly514=) | dbSNP |
17 | g.80110832A= | CA2277814113 | GAA | c.1543A= (p.Met515=) | |
17 | g.80110832A>C | CA401367143 | GAA | c.1543A>C (p.Met515Leu) | dbSNP gnomAD v4 |
17 | g.80110832A>G | CA401367144 | GAA | c.1543A>G (p.Met515Val) | |
17 | g.80110832A>T | CA401367145 | GAA | c.1543A>T (p.Met515Leu) | gnomAD v4 |
17 | g.80110832_80110833del | CA2576414101 | GAA | c.1543_1544del (p.Met515ValfsTer3) | |
17 | g.80110833T>A | CA401367146 | GAA | c.1544T>A (p.Met515Lys) | |
17 | g.80110833T>C | CA401367148 | GAA | c.1544T>C (p.Met515Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110833T>G | CA401367147 | GAA | c.1544T>G (p.Met515Arg) | |
17 | g.80110833T= | CA2277814114 | GAA | c.1544T= (p.Met515=) | |
17 | g.80110834G>A | CA401367149 | GAA | c.1545G>A (p.Met515Ile) | |
17 | g.80110834G>C | CA401367150 | GAA | c.1545G>C (p.Met515Ile) | |
17 | g.80110834G>T | CA401367151 | GAA | c.1545G>T (p.Met515Ile) | |
17 | g.80110835T>A | CA401367152 | GAA | c.1546T>A (p.Trp516Arg) | |
17 | g.80110835T>C | CA401367153 | GAA | c.1546T>C (p.Trp516Arg) | ClinVar |
17 | g.80110835T>G | CA401367154 | GAA | c.1546T>G (p.Trp516Gly) | |
17 | g.80110836G>A | CA401367155 | GAA | c.1547G>A (p.Trp516Ter) | ClinVar dbSNP |
17 | g.80110836G>C | CA401367156 | GAA | c.1547G>C (p.Trp516Ser) | |
17 | g.80110836G= | CA2277814115 | GAA | c.1547G= (p.Trp516=) | |
17 | g.80110836G>T | CA401367157 | GAA | c.1547G>T (p.Trp516Leu) | |
17 | g.80110837G>A | CA274281 | GAA | c.1548G>A (p.Trp516Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110837G>C | CA401367158 | GAA | c.1548G>C (p.Trp516Cys) | |
17 | g.80110837G= | CA2277814116 | GAA | c.1548G= (p.Trp516=) | |
17 | g.80110837G>T | CA401367159 | GAA | c.1548G>T (p.Trp516Cys) | |
17 | g.80110838A= | CA2277814117 | GAA | c.1549A= (p.Ile517=) | |
17 | g.80110838A>C | CA401367160 | GAA | c.1549A>C (p.Ile517Leu) | dbSNP gnomAD v4 |
17 | g.80110838A>G | CA8815364 | GAA | c.1549A>G (p.Ile517Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110838A>T | CA401367161 | GAA | c.1549A>T (p.Ile517Phe) | |
17 | g.80110839T>A | CA401367162 | GAA | c.1550T>A (p.Ile517Asn) | |
17 | g.80110839T>C | CA401367163 | GAA | c.1550T>C (p.Ile517Thr) | |
17 | g.80110839T>G | CA401367164 | GAA | c.1550T>G (p.Ile517Ser) | |
17 | g.80110840T>A | CA502178612 | GAA | c.1551T>A (p.Ile517=) | |
17 | g.80110840T>C | CA294894931 | GAA | c.1551T>C (p.Ile517=) | dbSNP gnomAD v4 |
17 | g.80110840T>G | CA401367165 | GAA | c.1551T>G (p.Ile517Met) | |
17 | g.80110840T= | CA2277814118 | GAA | c.1551T= (p.Ile517=) | |
17 | g.80110841del | CA2640288616 | GAA | c.1551+1del (n.1551+1del) | gnomAD v4 |
17 | g.80110841G>A | CA401367166 | GAA | c.1551+1G>A (n.1551+1G>A) | ClinVar dbSNP |
17 | g.80110841G>C | CA401367167 | GAA | c.1551+1G>C (n.1551+1G>C) | ClinVar dbSNP gnomAD v4 |
17 | g.80110841G= | CA2277814119 | GAA | c.1551+1G= (n.1551+1G=) | |
17 | g.80110841G>T | CA8815365 | GAA | c.1551+1G>T (n.1551+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80110843_80110846del | CA913187388 | GAA | c.1551+3_1551+6del (n.1551+3_1551+6del) | |
17 | g.80110842T>A | CA401367168 | GAA | c.1551+2T>A (n.1551+2T>A) | |
17 | g.80110842T>C | CA401367169 | GAA | c.1551+2T>C (n.1551+2T>C) | |
17 | g.80110842T>G | CA401367170 | GAA | c.1551+2T>G (n.1551+2T>G) | |
17 | g.80110842dup | CA2640288624 | GAA | c.1551+2dup (n.1551+2dup) | gnomAD v4 |
17 | g.80110843A= | CA2277814120 | GAA | c.1551+3A= (n.1551+3A=) | |
17 | g.80110843A>T | CA2277814121 | GAA | c.1551+3A>T (n.1551+3A>T) | dbSNP |
17 | g.80110844A= | CA2277814122 | GAA | c.1551+4A= (n.1551+4A=) | |
17 | g.80110844A>C | CA2580095757 | GAA | c.1551+4A>C (n.1551+4A>C) | ClinVar |
17 | g.80110844A>G | CA627699577 | GAA | c.1551+4A>G (n.1551+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110845G>A | CA1139665923 | GAA | c.1551+5G>A (n.1551+5G>A) | ClinVar dbSNP |
17 | g.80110845G= | CA2277814123 | GAA | c.1551+5G= (n.1551+5G=) | |
17 | g.80110846T>C | CA627699578 | GAA | c.1551+6T>C (n.1551+6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110846T= | CA2277814124 | GAA | c.1551+6T= (n.1551+6T=) | |
17 | g.80110847G>A | CA627699579 | GAA | c.1551+7G>A (n.1551+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110847G= | CA2277814125 | GAA | c.1551+7G= (n.1551+7G=) | |
17 | g.80110847G>T | CA2499225012 | GAA | c.1551+7G>T (n.1551+7G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80110848T>C | CA627699580 | GAA | c.1551+8T>C (n.1551+8T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110848T= | CA2277814126 | GAA | c.1551+8T= (n.1551+8T=) | |
17 | g.80110850dup | CA2573154973 | GAA | c.1551+10dup (n.1551+10dup) | ClinVar dbSNP |
17 | g.80110850G>A | CA2697555222 | GAA | c.1551+10G>A (n.1551+10G>A) | ClinVar |
17 | g.80110850G= | CA2277814127 | GAA | c.1551+10G= (n.1551+10G=) | |
17 | g.80110850G>T | CA294894938 | GAA | c.1551+10G>T (n.1551+10G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110851C>A | CA2640288662 | GAA | c.1551+11C>A (n.1551+11C>A) | gnomAD v4 |
17 | g.80110851C= | CA2277814129 | GAA | c.1551+11C= (n.1551+11C=) | |
17 | g.80110851C>T | CA2277814128 | GAA | c.1551+11C>T (n.1551+11C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80110855dup | CA2810585811 | GAA | c.1551+15dup (n.1551+15dup) | |
17 | g.80110855del | CA2580095758 | GAA | c.1551+15del (n.1551+15del) | ClinVar gnomAD v4 |
17 | g.80110852C>A | CA16607901 | GAA | c.1551+12C>A (n.1551+12C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110852C= | CA2277814130 | GAA | c.1551+12C= (n.1551+12C=) | |
17 | g.80110853C= | CA2277814131 | GAA | c.1551+13C= (n.1551+13C=) | |
17 | g.80110853C>G | CA2277814132 | GAA | c.1551+13C>G (n.1551+13C>G) | dbSNP |
17 | g.80110854C= | CA2277814133 | GAA | c.1551+14C= (n.1551+14C=) | |
17 | g.80110854C>T | CA2277814134 | GAA | c.1551+14C>T (n.1551+14C>T) | dbSNP |
17 | g.80110855C= | CA2277814135 | GAA | c.1551+15C= (n.1551+15C=) | |
17 | g.80110855C>G | CA8815366 | GAA | c.1551+15C>G (n.1551+15C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110855C>T | CA2640288676 | GAA | c.1551+15C>T (n.1551+15C>T) | gnomAD v4 |
17 | g.80110857C= | CA2277814136 | GAA | c.1551+17C= (n.1551+17C=) | |
17 | g.80110857C>T | CA627699581 | GAA | c.1551+17C>T (n.1551+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110859T>G | CA2640288683 | GAA | c.1551+19T>G (n.1551+19T>G) | gnomAD v4 |
17 | g.80110860G>A | CA627699582 | GAA | c.1551+20G>A (n.1551+20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110860G= | CA2277814137 | GAA | c.1551+20G= (n.1551+20G=) | |
17 | g.80110861A= | CA2277814138 | GAA | c.1551+21A= (n.1551+21A=) | |
17 | g.80110861A>C | CA8815367 | GAA | c.1551+21A>C (n.1551+21A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110861A>G | CA2640288696 | GAA | c.1551+21A>G (n.1551+21A>G) | gnomAD v4 |
17 | g.80110862G>C | CA2576414102 | GAA | c.1551+22G>C (n.1551+22G>C) | |
17 | g.80110863C>A | CA775516718 | GAA | c.1551+23C>A (n.1551+23C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80110863C= | CA2277814139 | GAA | c.1551+23C= (n.1551+23C=) | |
17 | g.80110863C>T | CA627699583 | GAA | c.1551+23C>T (n.1551+23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80110864A>G | CA2640288706 | GAA | c.1551+24A>G (n.1551+24A>G) | gnomAD v4 |
17 | g.80110864A>T | CA2640288709 | GAA | c.1551+24A>T (n.1551+24A>T) | gnomAD v4 |
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 |