Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39965621C>T | CA2576256588 | GSDMA | c.-5-62C>T (n.-5-62C>T) c.-6+33C>T (n.-6+33C>T) | gnomAD v4 |
17 | g.39965622C>A | CA2637662591 | GSDMA | c.-5-61C>A (n.-5-61C>A) c.-6+34C>A (n.-6+34C>A) | gnomAD v4 |
17 | g.39965622C= | CA2259332133 | GSDMA | c.-5-61C= (n.-5-61C=) c.-6+34C= (n.-6+34C=) | |
17 | g.39965622C>G | CA2259332134 | GSDMA | c.-5-61C>G (n.-5-61C>G) c.-6+34C>G (n.-6+34C>G) | dbSNP gnomAD v4 |
17 | g.39965622C>T | CA2637662590 | GSDMA | c.-5-61C>T (n.-5-61C>T) c.-6+34C>T (n.-6+34C>T) | gnomAD v4 |
17 | g.39965623C>A | CA2637662592 | GSDMA | c.-5-60C>A (n.-5-60C>A) c.-6+35C>A (n.-6+35C>A) | gnomAD v4 |
17 | g.39965623C= | CA2259332135 | GSDMA | c.-5-60C= (n.-5-60C=) c.-6+35C= (n.-6+35C=) | |
17 | g.39965623C>T | CA290468102 | GSDMA | c.-5-60C>T (n.-5-60C>T) c.-6+35C>T (n.-6+35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965624G>A | CA771889068 | GSDMA | c.-5-59G>A (n.-5-59G>A) c.-6+36G>A (n.-6+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39965624G>C | CA2637662610 | GSDMA | c.-5-59G>C (n.-5-59G>C) c.-6+36G>C (n.-6+36G>C) | gnomAD v4 |
17 | g.39965624G= | CA2259332136 | GSDMA | c.-5-59G= (n.-5-59G=) c.-6+36G= (n.-6+36G=) | |
17 | g.39965624G>T | CA2637662613 | GSDMA | c.-5-59G>T (n.-5-59G>T) c.-6+36G>T (n.-6+36G>T) | gnomAD v4 |
17 | g.39965626G>A | CA2637662615 | GSDMA | c.-5-57G>A (n.-5-57G>A) c.-6+38G>A (n.-6+38G>A) | gnomAD v4 |
17 | g.39965626G>C | CA983634130 | GSDMA | c.-5-57G>C (n.-5-57G>C) c.-6+38G>C (n.-6+38G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39965626G= | CA2259332137 | GSDMA | c.-5-57G= (n.-5-57G=) c.-6+38G= (n.-6+38G=) | |
17 | g.39965627C>A | CA2637662616 | GSDMA | c.-5-56C>A (n.-5-56C>A) c.-6+39C>A (n.-6+39C>A) | gnomAD v4 |
17 | g.39965627C>T | CA2637662617 | GSDMA | c.-5-56C>T (n.-5-56C>T) c.-6+39C>T (n.-6+39C>T) | gnomAD v4 |
17 | g.39965628T>C | CA2637662619 | GSDMA | c.-5-55T>C (n.-5-55T>C) c.-6+40T>C (n.-6+40T>C) | gnomAD v4 |
17 | g.39965628_39965637delinsTCCTTGGCAG | CA2259332138 | GSDMA | c.-5-55_-5-46delinsTCCTTGGCAG (n.-5-55_-5-46delinsTCCTTGGCAG) c.-6+40_-5-46delinsTCCTTGGCAG (n.-6+40_-5-46delinsTCCTTGGCAG) | |
17 | g.39965629C>T | CA2637662622 | GSDMA | c.-5-54C>T (n.-5-54C>T) c.-6+41C>T (n.-6+41C>T) | gnomAD v4 |
17 | g.39965640_39965648dup | CA2637662621 | GSDMA | c.-5-43_-5-35dup (n.-5-43_-5-35dup) | gnomAD v4 |
17 | g.39965640_39965648del | CA2259332139 | GSDMA | c.-5-43_-5-35del (n.-5-43_-5-35del) | dbSNP gnomAD v4 |
17 | g.39965630C>A | CA2637662623 | GSDMA | c.-5-53C>A (n.-5-53C>A) c.-6+42C>A (n.-6+42C>A) | gnomAD v4 |
17 | g.39965631T>C | CA2637662625 | GSDMA | c.-5-52T>C (n.-5-52T>C) c.-6+43T>C (n.-6+43T>C) | gnomAD v4 |
17 | g.39965633G>T | CA2576256589 | GSDMA | c.-5-50G>T (n.-5-50G>T) c.-6+45G>T (n.-6+45G>T) | |
17 | g.39965634G>A | CA2637662627 | GSDMA | c.-5-49G>A (n.-5-49G>A) c.-6+46G>A (n.-6+46G>A) | dbSNP gnomAD v4 |
17 | g.39965635C= | CA2259332140 | GSDMA | c.-5-48C= (n.-5-48C=) | |
17 | g.39965635C>T | CA626210066 | GSDMA | c.-5-48C>T (n.-5-48C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965637G>A | CA2576256590 | GSDMA | c.-5-46G>A (n.-5-46G>A) | gnomAD v4 |
17 | g.39965637G>T | CA2637662629 | GSDMA | c.-5-46G>T (n.-5-46G>T) | gnomAD v4 |
17 | g.39965638C>A | CA8536735 | GSDMA | c.-5-45C>A (n.-5-45C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39965638C= | CA2259332141 | GSDMA | c.-5-45C= (n.-5-45C=) | |
17 | g.39965638C>G | CA2576256591 | GSDMA | c.-5-45C>G (n.-5-45C>G) | gnomAD v4 |
17 | g.39965638C>T | CA2576256592 | GSDMA | c.-5-45C>T (n.-5-45C>T) | gnomAD v4 |
17 | g.39965639C>A | CA2637662644 | GSDMA | c.-5-44C>A (n.-5-44C>A) | gnomAD v4 |
17 | g.39965639C= | CA2259332142 | GSDMA | c.-5-44C= (n.-5-44C=) | |
17 | g.39965639C>T | CA2259332143 | GSDMA | c.-5-44C>T (n.-5-44C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39965641T>C | CA2637662647 | GSDMA | c.-5-42T>C (n.-5-42T>C) | gnomAD v4 |
17 | g.39965642G>A | CA2637662649 | GSDMA | c.-5-41G>A (n.-5-41G>A) | gnomAD v4 |
17 | g.39965642G>T | CA2576256593 | GSDMA | c.-5-41G>T (n.-5-41G>T) | |
17 | g.39965643G>A | CA626210067 | GSDMA | c.-5-40G>A (n.-5-40G>A) | dbSNP gnomAD v2 |
17 | g.39965643G>C | CA2259332145 | GSDMA | c.-5-40G>C (n.-5-40G>C) | dbSNP gnomAD v4 |
17 | g.39965643G= | CA2259332144 | GSDMA | c.-5-40G= (n.-5-40G=) | |
17 | g.39965643G>T | CA2637662650 | GSDMA | c.-5-40G>T (n.-5-40G>T) | gnomAD v4 |
17 | g.39965644C>A | CA2259332147 | GSDMA | c.-5-39C>A (n.-5-39C>A) | dbSNP |
17 | g.39965644C= | CA2259332146 | GSDMA | c.-5-39C= (n.-5-39C=) | |
17 | g.39965644C>T | CA2576256594 | GSDMA | c.-5-39C>T (n.-5-39C>T) | gnomAD v4 |
17 | g.39965646G>A | CA2637662657 | GSDMA | c.-5-37G>A (n.-5-37G>A) | gnomAD v4 |
17 | g.39965647C>A | CA2576256595 | GSDMA | c.-5-36C>A (n.-5-36C>A) | gnomAD v4 |
17 | g.39965647C= | CA2259332148 | GSDMA | c.-5-36C= (n.-5-36C=) | |
17 | g.39965647C>G | CA983634133 | GSDMA | c.-5-36C>G (n.-5-36C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39965648C>A | CA2637662667 | GSDMA | c.-5-35C>A (n.-5-35C>A) | gnomAD v4 |
17 | g.39965648C>T | CA2637662666 | GSDMA | c.-5-35C>T (n.-5-35C>T) | gnomAD v4 |
17 | g.39965649A= | CA2259332149 | GSDMA | c.-5-34A= (n.-5-34A=) | |
17 | g.39965649A>C | CA626210068 | GSDMA | c.-5-34A>C (n.-5-34A>C) | dbSNP gnomAD v2 |
17 | g.39965650C>A | CA626210069 | GSDMA | c.-5-33C>A (n.-5-33C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965650C= | CA2259332150 | GSDMA | c.-5-33C= (n.-5-33C=) | |
17 | g.39965651C>G | CA2576256596 | GSDMA | c.-5-32C>G (n.-5-32C>G) | |
17 | g.39965651C>T | CA2576256597 | GSDMA | c.-5-32C>T (n.-5-32C>T) | |
17 | g.39965651_39965652delinsCT | CA2259332151 | GSDMA | c.-5-32_-5-31delinsCT (n.-5-32_-5-31delinsCT) | |
17 | g.39965653del | CA626210070 | GSDMA | c.-5-30del (n.-5-30del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965653T>C | CA2259332152 | GSDMA | c.-5-30T>C (n.-5-30T>C) | dbSNP gnomAD v4 |
17 | g.39965653T>G | CA290468105 | GSDMA | c.-5-30T>G (n.-5-30T>G) | dbSNP |
17 | g.39965653T= | CA2259332153 | GSDMA | c.-5-30T= (n.-5-30T=) | |
17 | g.39965654G>A | CA626210071 | GSDMA | c.-5-29G>A (n.-5-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965654G= | CA2259332154 | GSDMA | c.-5-29G= (n.-5-29G=) | |
17 | g.39965654G>T | CA2637662679 | GSDMA | c.-5-29G>T (n.-5-29G>T) | gnomAD v4 |
17 | g.39965656C>A | CA2637662680 | GSDMA | c.-5-27C>A (n.-5-27C>A) | gnomAD v4 |
17 | g.39965658C>A | CA2637662682 | GSDMA | c.-5-25C>A (n.-5-25C>A) | gnomAD v4 |
17 | g.39965658C>T | CA2637662683 | GSDMA | c.-5-25C>T (n.-5-25C>T) | gnomAD v4 |
17 | g.39965658_39965659insAGCTGGAAAGAA | CA2504158128 | GSDMA | c.-5-25_-5-24insAGCTGGAAAGAA (n.-5-25_-5-24insAGCTGGAAAGAA) | |
17 | g.39965660C>A | CA2576256598 | GSDMA | c.-5-23C>A (n.-5-23C>A) | gnomAD v4 |
17 | g.39965660C>G | CA2637662684 | GSDMA | c.-5-23C>G (n.-5-23C>G) | gnomAD v4 |
17 | g.39965660C>T | CA2637662685 | GSDMA | c.-5-23C>T (n.-5-23C>T) | gnomAD v4 |
17 | g.39965661T>C | CA2637662687 | GSDMA | c.-5-22T>C (n.-5-22T>C) | gnomAD v4 |
17 | g.39965662C>A | CA2637662691 | GSDMA | c.-5-21C>A (n.-5-21C>A) | gnomAD v4 |
17 | g.39965663C>A | CA2637662692 | GSDMA | c.-5-20C>A (n.-5-20C>A) | gnomAD v4 |
17 | g.39965663C= | CA2259332155 | GSDMA | c.-5-20C= (n.-5-20C=) | |
17 | g.39965663C>T | CA8536736 | GSDMA | c.-5-20C>T (n.-5-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965664T>C | CA626210072 | GSDMA | c.-5-19T>C (n.-5-19T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965664T= | CA2259332156 | GSDMA | c.-5-19T= (n.-5-19T=) | |
17 | g.39965665G>A | CA2637662695 | GSDMA | c.-5-18G>A (n.-5-18G>A) | gnomAD v4 |
17 | g.39965665G>C | CA8536737 | GSDMA | c.-5-18G>C (n.-5-18G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965665G= | CA2259332157 | GSDMA | c.-5-18G= (n.-5-18G=) | |
17 | g.39965665G>T | CA2637662696 | GSDMA | c.-5-18G>T (n.-5-18G>T) | gnomAD v4 |
17 | g.39965666T>C | CA771889080 | GSDMA | c.-5-17T>C (n.-5-17T>C) | dbSNP |
17 | g.39965666T= | CA2259332158 | GSDMA | c.-5-17T= (n.-5-17T=) | |
17 | g.39965667C>A | CA2576256599 | GSDMA | c.-5-16C>A (n.-5-16C>A) | gnomAD v4 |
17 | g.39965667C= | CA2259332159 | GSDMA | c.-5-16C= (n.-5-16C=) | |
17 | g.39965667C>G | CA2637662698 | GSDMA | c.-5-16C>G (n.-5-16C>G) | gnomAD v4 |
17 | g.39965667C>T | CA8536738 | GSDMA | c.-5-16C>T (n.-5-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965668T>A | CA626210073 | GSDMA | c.-5-15T>A (n.-5-15T>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965668T>G | CA2637662706 | GSDMA | c.-5-15T>G (n.-5-15T>G) | gnomAD v4 |
17 | g.39965668T= | CA2259332160 | GSDMA | c.-5-15T= (n.-5-15T=) | |
17 | g.39965669C>A | CA2637662710 | GSDMA | c.-5-14C>A (n.-5-14C>A) | gnomAD v4 |
17 | g.39965671_39965672del | CA2809451052 | GSDMA | c.-5-12_-5-11del (n.-5-12_-5-11del) | |
17 | g.39965670C>A | CA2637662712 | GSDMA | c.-5-13C>A (n.-5-13C>A) | gnomAD v4 |
17 | g.39965670C>T | CA2637662714 | GSDMA | c.-5-13C>T (n.-5-13C>T) | gnomAD v4 |
17 | g.39965671C>A | CA2637662715 | GSDMA | c.-5-12C>A (n.-5-12C>A) | gnomAD v4 |
17 | g.39965671C>T | CA2637662716 | GSDMA | c.-5-12C>T (n.-5-12C>T) | gnomAD v4 |
17 | g.39965672C>A | CA2508454981 | GSDMA | c.-5-11C>A (n.-5-11C>A) | gnomAD v4 |
17 | g.39965672C>T | CA2637662719 | GSDMA | c.-5-11C>T (n.-5-11C>T) | gnomAD v4 |
17 | g.39965673A= | CA2259332162 | GSDMA | c.-5-10A= (n.-5-10A=) | |
17 | g.39965673A>C | CA2259332161 | GSDMA | c.-5-10A>C (n.-5-10A>C) | dbSNP |
17 | g.39965673A>G | CA2637662725 | GSDMA | c.-5-10A>G (n.-5-10A>G) | gnomAD v4 |
17 | g.39965674C>A | CA2637662726 | GSDMA | c.-5-9C>A (n.-5-9C>A) | gnomAD v4 |
17 | g.39965674C>T | CA2637662727 | GSDMA | c.-5-9C>T (n.-5-9C>T) | gnomAD v4 |
17 | g.39965675C>A | CA2637662728 | GSDMA | c.-5-8C>A (n.-5-8C>A) | gnomAD v4 |
17 | g.39965679A= | CA2259332163 | GSDMA | c.-5-4A= (n.-5-4A=) | |
17 | g.39965679A>G | CA8536739 | GSDMA | c.-5-4A>G (n.-5-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965680C= | CA2259332164 | GSDMA | c.-5-3C= (n.-5-3C=) | |
17 | g.39965680C>G | CA2637662731 | GSDMA | c.-5-3C>G (n.-5-3C>G) | gnomAD v4 |
17 | g.39965680C>T | CA8536740 | GSDMA | c.-5-3C>T (n.-5-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39965682G>A | CA626210074 | GSDMA | c.-5-1G>A (n.-5-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965682G= | CA2259332165 | GSDMA | c.-5-1G= (n.-5-1G=) | |
17 | g.39965682_39965683insC | CA656783917 | GSDMA | c.-5-1_-5insC (n.-5-1_-5insC) | COSMIC |
17 | g.39965684G>A | CA2637662742 | GSDMA | c.-4G>A (n.-4G>A) | gnomAD v4 |
17 | g.39965687A>G | CA2637662743 | GSDMA | c.-1A>G (n.-1A>G) | gnomAD v4 |
17 | g.39965688A>C | CA399272049 | GSDMA | c.1A>C (p.Met1Leu) | |
17 | g.39965688A>G | CA399272044 | GSDMA | c.1A>G (p.Met1Val) | |
17 | g.39965688A>T | CA399272048 | GSDMA | c.1A>T (p.Met1Leu) | |
17 | g.39965689T>A | CA399272053 | GSDMA | c.2T>A (p.Met1Lys) | |
17 | g.39965689T>C | CA399272057 | GSDMA | c.2T>C (p.Met1Thr) | gnomAD v4 |
17 | g.39965689T>G | CA399272066 | GSDMA | c.2T>G (p.Met1Arg) | |
17 | g.39965690G>A | CA399272075 | GSDMA | c.3G>A (p.Met1Ile) | |
17 | g.39965690G>C | CA399272071 | GSDMA | c.3G>C (p.Met1Ile) | |
17 | g.39965690G>T | CA399272069 | GSDMA | c.3G>T (p.Met1Ile) | gnomAD v4 |
17 | g.39965691A= | CA2259332166 | GSDMA | c.4A= (p.Thr2=) | |
17 | g.39965691A>C | CA399272081 | GSDMA | c.4A>C (p.Thr2Pro) | |
17 | g.39965691A>G | CA399272090 | GSDMA | c.4A>G (p.Thr2Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965691A>T | CA399272092 | GSDMA | c.4A>T (p.Thr2Ser) | |
17 | g.39965692C>A | CA399272097 | GSDMA | c.5C>A (p.Thr2Asn) | gnomAD v4 |
17 | g.39965692C= | CA2259332167 | GSDMA | c.5C= (p.Thr2=) | |
17 | g.39965692C>G | CA399272106 | GSDMA | c.5C>G (p.Thr2Ser) | gnomAD v4 |
17 | g.39965692C>T | CA8536741 | GSDMA | c.5C>T (p.Thr2Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965693C>A | CA499927519 | GSDMA | c.6C>A (p.Thr2=) | |
17 | g.39965693C>G | CA499927520 | GSDMA | c.6C>G (p.Thr2=) | |
17 | g.39965693C>T | CA499927521 | GSDMA | c.6C>T (p.Thr2=) | |
17 | g.39965694A= | CA2259332168 | GSDMA | c.7A= (p.Met3=) | |
17 | g.39965694A>C | CA399272113 | GSDMA | c.7A>C (p.Met3Leu) | gnomAD v4 |
17 | g.39965694A>G | CA8536742 | GSDMA | c.7A>G (p.Met3Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965694A>T | CA399272116 | GSDMA | c.7A>T (p.Met3Leu) | |
17 | g.39965695T>A | CA399272124 | GSDMA | c.8T>A (p.Met3Lys) | gnomAD v4 |
17 | g.39965695T>C | CA8536743 | GSDMA | c.8T>C (p.Met3Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39965695T>G | CA399272125 | GSDMA | c.8T>G (p.Met3Arg) | |
17 | g.39965695T= | CA2259332169 | GSDMA | c.8T= (p.Met3=) | |
17 | g.39965696G>A | CA399272130 | GSDMA | c.9G>A (p.Met3Ile) | |
17 | g.39965696G>C | CA399272138 | GSDMA | c.9G>C (p.Met3Ile) | |
17 | g.39965696G>T | CA399272142 | GSDMA | c.9G>T (p.Met3Ile) | dbSNP |
17 | g.39965696_39965698delinsGTT | CA2259332170 | GSDMA | c.9_11delinsGTT (p.Met3=) | |
17 | g.39965697T>A | CA399272155 | GSDMA | c.10T>A (p.Phe4Ile) | |
17 | g.39965697T>C | CA399272158 | GSDMA | c.10T>C (p.Phe4Leu) | |
17 | g.39965697T>G | CA399272162 | GSDMA | c.10T>G (p.Phe4Val) | |
17 | g.39965698_39965699del | CA8536744 | GSDMA | c.11_12del (p.Phe4Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965698T>A | CA399272176 | GSDMA | c.11T>A (p.Phe4Tyr) | |
17 | g.39965698T>C | CA399272174 | GSDMA | c.11T>C (p.Phe4Ser) | |
17 | g.39965698T>G | CA399272173 | GSDMA | c.11T>G (p.Phe4Cys) | |
17 | g.39965699T>A | CA399272178 | GSDMA | c.12T>A (p.Phe4Leu) | |
17 | g.39965699T>C | CA499927522 | GSDMA | c.12T>C (p.Phe4=) | |
17 | g.39965699T>G | CA399272180 | GSDMA | c.12T>G (p.Phe4Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965699T= | CA2259332171 | GSDMA | c.12T= (p.Phe4=) | |
17 | g.39965700G>A | CA399272183 | GSDMA | c.13G>A (p.Glu5Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965700G>C | CA399272184 | GSDMA | c.13G>C (p.Glu5Gln) | |
17 | g.39965700G= | CA2259332172 | GSDMA | c.13G= (p.Glu5=) | |
17 | g.39965700G>T | CA399272186 | GSDMA | c.13G>T (p.Glu5Ter) | |
17 | g.39965701A>C | CA399272189 | GSDMA | c.14A>C (p.Glu5Ala) | |
17 | g.39965701A>G | CA399272196 | GSDMA | c.14A>G (p.Glu5Gly) | |
17 | g.39965701A>T | CA399272199 | GSDMA | c.14A>T (p.Glu5Val) | |
17 | g.39965704del | CA2637662773 | GSDMA | c.17del (p.Asn6MetfsTer10) | gnomAD v4 |
17 | g.39965702A= | CA2259332173 | GSDMA | c.15A= (p.Glu5=) | |
17 | g.39965702A>C | CA399272201 | GSDMA | c.15A>C (p.Glu5Asp) | |
17 | g.39965702A>G | CA499927523 | GSDMA | c.15A>G (p.Glu5=) | dbSNP gnomAD v2 |
17 | g.39965702A>T | CA399272203 | GSDMA | c.15A>T (p.Glu5Asp) | |
17 | g.39965703A>C | CA399272205 | GSDMA | c.16A>C (p.Asn6His) | |
17 | g.39965703A>G | CA399272209 | GSDMA | c.16A>G (p.Asn6Asp) | |
17 | g.39965703A>T | CA399272212 | GSDMA | c.16A>T (p.Asn6Tyr) | |
17 | g.39965704A>C | CA399272214 | GSDMA | c.17A>C (p.Asn6Thr) | |
17 | g.39965704A>G | CA399272216 | GSDMA | c.17A>G (p.Asn6Ser) | |
17 | g.39965704A>T | CA399272217 | GSDMA | c.17A>T (p.Asn6Ile) | |
17 | g.39965705T>A | CA399272225 | GSDMA | c.18T>A (p.Asn6Lys) | gnomAD v4 |
17 | g.39965705T>C | CA290468132 | GSDMA | c.18T>C (p.Asn6=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965705T>G | CA399272231 | GSDMA | c.18T>G (p.Asn6Lys) | |
17 | g.39965705T= | CA2259332174 | GSDMA | c.18T= (p.Asn6=) | |
17 | g.39965706G>A | CA8536745 | GSDMA | c.19G>A (p.Val7Ile) | dbSNP ExAC gnomAD v2 |
17 | g.39965706G>C | CA399272239 | GSDMA | c.19G>C (p.Val7Leu) | |
17 | g.39965706G= | CA2259332175 | GSDMA | c.19G= (p.Val7=) | |
17 | g.39965706G>T | CA399272242 | GSDMA | c.19G>T (p.Val7Phe) | |
17 | g.39965707T>A | CA399272245 | GSDMA | c.20T>A (p.Val7Asp) | |
17 | g.39965707T>C | CA399272246 | GSDMA | c.20T>C (p.Val7Ala) | |
17 | g.39965707T>G | CA399272249 | GSDMA | c.20T>G (p.Val7Gly) | |
17 | g.39965708C>A | CA499927524 | GSDMA | c.21C>A (p.Val7=) | |
17 | g.39965708C>G | CA499927525 | GSDMA | c.21C>G (p.Val7=) | |
17 | g.39965708C>T | CA499927526 | GSDMA | c.21C>T (p.Val7=) | COSMIC COSMIC |
17 | g.39965709A= | CA2259332176 | GSDMA | c.22A= (p.Thr8=) | |
17 | g.39965709A>C | CA399272254 | GSDMA | c.22A>C (p.Thr8Pro) | dbSNP |
17 | g.39965709A>G | CA399272256 | GSDMA | c.22A>G (p.Thr8Ala) | |
17 | g.39965709A>T | CA399272261 | GSDMA | c.22A>T (p.Thr8Ser) | |
17 | g.39965710C>A | CA399272265 | GSDMA | c.23C>A (p.Thr8Asn) | |
17 | g.39965710C>G | CA399272266 | GSDMA | c.23C>G (p.Thr8Ser) | |
17 | g.39965710C>T | CA399272267 | GSDMA | c.23C>T (p.Thr8Ile) | |
17 | g.39965711C>A | CA499927527 | GSDMA | c.24C>A (p.Thr8=) | gnomAD v4 |
17 | g.39965711C= | CA2259332177 | GSDMA | c.24C= (p.Thr8=) | |
17 | g.39965711C>G | CA499927528 | GSDMA | c.24C>G (p.Thr8=) | |
17 | g.39965711C>T | CA499927529 | GSDMA | c.24C>T (p.Thr8=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39965712C>A | CA499927530 | GSDMA | c.25C>A (p.Arg9=) | gnomAD v4 |
17 | g.39965712C= | CA2259332178 | GSDMA | c.25C= (p.Arg9=) | |
17 | g.39965712C>G | CA399272268 | GSDMA | c.25C>G (p.Arg9Gly) | dbSNP gnomAD v4 |
17 | g.39965712C>T | CA8536746 | GSDMA | c.25C>T (p.Arg9Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965713G>A | CA8536747 | GSDMA | c.26G>A (p.Arg9Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965713G>C | CA399272269 | GSDMA | c.26G>C (p.Arg9Pro) | |
17 | g.39965713G= | CA2259332179 | GSDMA | c.26G= (p.Arg9=) | |
17 | g.39965713G>T | CA399272271 | GSDMA | c.26G>T (p.Arg9Leu) | |
17 | g.39965714G>A | CA499927531 | GSDMA | c.27G>A (p.Arg9=) | gnomAD v4 |
17 | g.39965714G>C | CA499927532 | GSDMA | c.27G>C (p.Arg9=) | |
17 | g.39965714G>T | CA499927533 | GSDMA | c.27G>T (p.Arg9=) | |
17 | g.39965715G>A | CA8536748 | GSDMA | c.28G>A (p.Ala10Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39965715G>C | CA399272277 | GSDMA | c.28G>C (p.Ala10Pro) | |
17 | g.39965715G= | CA2259332180 | GSDMA | c.28G= (p.Ala10=) | |
17 | g.39965715G>T | CA399272282 | GSDMA | c.28G>T (p.Ala10Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39965716C>A | CA399272293 | GSDMA | c.29C>A (p.Ala10Asp) | gnomAD v4 |
17 | g.39965716C= | CA2259332181 | GSDMA | c.29C= (p.Ala10=) | |
17 | g.39965716C>G | CA399272287 | GSDMA | c.29C>G (p.Ala10Gly) | |
17 | g.39965716C>T | CA8536749 | GSDMA | c.29C>T (p.Ala10Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.39965717C>A | CA499927534 | GSDMA | c.30C>A (p.Ala10=) | |
17 | g.39965717C>G | CA499927535 | GSDMA | c.30C>G (p.Ala10=) | |
17 | g.39965717C>T | CA499927536 | GSDMA | c.30C>T (p.Ala10=) | |
17 | g.39965718C>A | CA399272295 | GSDMA | c.31C>A (p.Leu11Met) | |
17 | g.39965718C= | CA2259332182 | GSDMA | c.31C= (p.Leu11=) | |
17 | g.39965718C>G | CA399272299 | GSDMA | c.31C>G (p.Leu11Val) | |
17 | g.39965718C>T | CA499927537 | GSDMA | c.31C>T (p.Leu11=) | dbSNP gnomAD v4 |
17 | g.39965719T>A | CA399272300 | GSDMA | c.32T>A (p.Leu11Gln) | |
17 | g.39965719T>C | CA399272303 | GSDMA | c.32T>C (p.Leu11Pro) | |
17 | g.39965719T>G | CA399272306 | GSDMA | c.32T>G (p.Leu11Arg) | gnomAD v4 |
17 | g.39965720G>A | CA290468140 | GSDMA | c.33G>A (p.Leu11=) | dbSNP gnomAD v4 |
17 | g.39965720G>C | CA499927538 | GSDMA | c.33G>C (p.Leu11=) | gnomAD v3 gnomAD v4 |
17 | g.39965720G= | CA2259332183 | GSDMA | c.33G= (p.Leu11=) | |
17 | g.39965720G>T | CA499927539 | GSDMA | c.33G>T (p.Leu11=) | dbSNP gnomAD v2 gnomAD v4 |