Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745341T>A | CA397503170 | GEMIN4 | c.2702A>T (p.Asn901Ile) c.2669A>T (p.Asn890Ile) c.2714A>T (p.Asn905Ile) | dbSNP gnomAD v4 |
17 | g.745341T>C | CA397503169 | GEMIN4 | c.2702A>G (p.Asn901Ser) c.2669A>G (p.Asn890Ser) c.2714A>G (p.Asn905Ser) | ClinVar |
17 | g.745341T>G | CA8262376 | GEMIN4 | c.2702A>C (p.Asn901Thr) c.2669A>C (p.Asn890Thr) c.2714A>C (p.Asn905Thr) | dbSNP ExAC gnomAD v4 |
17 | g.745341T= | CA2242474205 | GEMIN4 | c.2702A= (p.Asn901=) c.2669A= (p.Asn890=) c.2714A= (p.Asn905=) | |
17 | g.745342T>A | CA397503171 | GEMIN4 | c.2701A>T (p.Asn901Tyr) c.2668A>T (p.Asn890Tyr) c.2713A>T (p.Asn905Tyr) | |
17 | g.745342T>C | CA397503172 | GEMIN4 | c.2701A>G (p.Asn901Asp) c.2668A>G (p.Asn890Asp) c.2713A>G (p.Asn905Asp) | |
17 | g.745342T>G | CA397503173 | GEMIN4 | c.2701A>C (p.Asn901His) c.2668A>C (p.Asn890His) c.2713A>C (p.Asn905His) | |
17 | g.745343G>A | CA497383721 | GEMIN4 | c.2700C>T (p.Leu900=) c.2667C>T (p.Leu889=) c.2712C>T (p.Leu904=) | |
17 | g.745343G>C | CA497383722 | GEMIN4 | c.2700C>G (p.Leu900=) c.2667C>G (p.Leu889=) c.2712C>G (p.Leu904=) | |
17 | g.745343G>T | CA497383723 | GEMIN4 | c.2700C>A (p.Leu900=) c.2667C>A (p.Leu889=) c.2712C>A (p.Leu904=) | |
17 | g.745344A= | CA2242474206 | GEMIN4 | c.2699T= (p.Leu900=) c.2666T= (p.Leu889=) c.2711T= (p.Leu904=) | |
17 | g.745344A>C | CA397503174 | GEMIN4 | c.2699T>G (p.Leu900Arg) c.2666T>G (p.Leu889Arg) c.2711T>G (p.Leu904Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.745344A>G | CA397503175 | GEMIN4 | c.2699T>C (p.Leu900Pro) c.2666T>C (p.Leu889Pro) c.2711T>C (p.Leu904Pro) | |
17 | g.745344A>T | CA397503176 | GEMIN4 | c.2699T>A (p.Leu900His) c.2666T>A (p.Leu889His) c.2711T>A (p.Leu904His) | |
17 | g.745345G>A | CA397503177 | GEMIN4 | c.2698C>T (p.Leu900Phe) c.2665C>T (p.Leu889Phe) c.2710C>T (p.Leu904Phe) | gnomAD v4 |
17 | g.745345G>C | CA397503178 | GEMIN4 | c.2698C>G (p.Leu900Val) c.2665C>G (p.Leu889Val) c.2710C>G (p.Leu904Val) | |
17 | g.745345G>T | CA397503179 | GEMIN4 | c.2698C>A (p.Leu900Ile) c.2665C>A (p.Leu889Ile) c.2710C>A (p.Leu904Ile) | |
17 | g.745346C>A | CA497383724 | GEMIN4 | c.2697G>T (p.Leu899=) c.2664G>T (p.Leu888=) c.2709G>T (p.Leu903=) | |
17 | g.745346C>G | CA497383725 | GEMIN4 | c.2697G>C (p.Leu899=) c.2664G>C (p.Leu888=) c.2709G>C (p.Leu903=) | |
17 | g.745346C>T | CA497383726 | GEMIN4 | c.2697G>A (p.Leu899=) c.2664G>A (p.Leu888=) c.2709G>A (p.Leu903=) | |
17 | g.745347A= | CA2242474207 | GEMIN4 | c.2696T= (p.Leu899=) c.2663T= (p.Leu888=) c.2708T= (p.Leu903=) | |
17 | g.745347A>C | CA8262377 | GEMIN4 | c.2696T>G (p.Leu899Arg) c.2663T>G (p.Leu888Arg) c.2708T>G (p.Leu903Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745347A>G | CA397503180 | GEMIN4 | c.2696T>C (p.Leu899Pro) c.2663T>C (p.Leu888Pro) c.2708T>C (p.Leu903Pro) | |
17 | g.745347A>T | CA397503181 | GEMIN4 | c.2696T>A (p.Leu899Gln) c.2663T>A (p.Leu888Gln) c.2708T>A (p.Leu903Gln) | |
17 | g.745348G>A | CA8262378 | GEMIN4 | c.2695C>T (p.Leu899=) c.2662C>T (p.Leu888=) c.2707C>T (p.Leu903=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745348G>C | CA397503183 | GEMIN4 | c.2695C>G (p.Leu899Val) c.2662C>G (p.Leu888Val) c.2707C>G (p.Leu903Val) | |
17 | g.745348G= | CA2242474208 | GEMIN4 | c.2695C= (p.Leu899=) c.2662C= (p.Leu888=) c.2707C= (p.Leu903=) | |
17 | g.745348G>T | CA397503182 | GEMIN4 | c.2695C>A (p.Leu899Met) c.2662C>A (p.Leu888Met) c.2707C>A (p.Leu903Met) | gnomAD v4 |
17 | g.745349G>A | CA497383727 | GEMIN4 | c.2694C>T (p.Pro898=) c.2661C>T (p.Pro887=) c.2706C>T (p.Pro902=) | gnomAD v4 |
17 | g.745349G>C | CA497383728 | GEMIN4 | c.2694C>G (p.Pro898=) c.2661C>G (p.Pro887=) c.2706C>G (p.Pro902=) | |
17 | g.745349G>T | CA497383729 | GEMIN4 | c.2694C>A (p.Pro898=) c.2661C>A (p.Pro887=) c.2706C>A (p.Pro902=) | |
17 | g.745350G>A | CA397503184 | GEMIN4 | c.2693C>T (p.Pro898Leu) c.2660C>T (p.Pro887Leu) c.2705C>T (p.Pro902Leu) | gnomAD v4 |
17 | g.745350G>C | CA397503185 | GEMIN4 | c.2693C>G (p.Pro898Arg) c.2660C>G (p.Pro887Arg) c.2705C>G (p.Pro902Arg) | gnomAD v4 |
17 | g.745350G= | CA2242474209 | GEMIN4 | c.2693C= (p.Pro898=) c.2660C= (p.Pro887=) c.2705C= (p.Pro902=) | |
17 | g.745350G>T | CA397503186 | GEMIN4 | c.2693C>A (p.Pro898His) c.2660C>A (p.Pro887His) c.2705C>A (p.Pro902His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745351G>A | CA397503187 | GEMIN4 | c.2692C>T (p.Pro898Ser) c.2659C>T (p.Pro887Ser) c.2704C>T (p.Pro902Ser) | dbSNP gnomAD v4 |
17 | g.745351G>C | CA397503188 | GEMIN4 | c.2692C>G (p.Pro898Ala) c.2659C>G (p.Pro887Ala) c.2704C>G (p.Pro902Ala) | gnomAD v4 |
17 | g.745351G= | CA2242474210 | GEMIN4 | c.2692C= (p.Pro898=) c.2659C= (p.Pro887=) c.2704C= (p.Pro902=) | |
17 | g.745351G>T | CA397503189 | GEMIN4 | c.2692C>A (p.Pro898Thr) c.2659C>A (p.Pro887Thr) c.2704C>A (p.Pro902Thr) | |
17 | g.745351_745355delinsGAACA | CA2242474211 | GEMIN4 | c.2688_2692delinsTGTTC (p.Phe896=) c.2655_2659delinsTGTTC (p.Phe885=) c.2700_2704delinsTGTTC (p.Phe900=) | |
17 | g.745352A>C | CA497383730 | GEMIN4 | c.2691T>G (p.Val897=) c.2658T>G (p.Val886=) c.2703T>G (p.Val901=) | |
17 | g.745352A>G | CA497383731 | GEMIN4 | c.2691T>C (p.Val897=) c.2658T>C (p.Val886=) c.2703T>C (p.Val901=) | |
17 | g.745352A>T | CA497383732 | GEMIN4 | c.2691T>A (p.Val897=) c.2658T>A (p.Val886=) c.2703T>A (p.Val901=) | |
17 | g.745355_745358del | CA980579013 | GEMIN4 | c.2688_2691del (p.Val897ProfsTer5) c.2655_2658del (p.Val886ProfsTer5) c.2700_2703del (p.Val901ProfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745353A>C | CA397503192 | GEMIN4 | c.2690T>G (p.Val897Gly) c.2657T>G (p.Val886Gly) c.2702T>G (p.Val901Gly) | |
17 | g.745353A>G | CA397503190 | GEMIN4 | c.2690T>C (p.Val897Ala) c.2657T>C (p.Val886Ala) c.2702T>C (p.Val901Ala) | |
17 | g.745353A>T | CA397503191 | GEMIN4 | c.2690T>A (p.Val897Asp) c.2657T>A (p.Val886Asp) c.2702T>A (p.Val901Asp) | |
17 | g.745354C>A | CA397503193 | GEMIN4 | c.2689G>T (p.Val897Phe) c.2656G>T (p.Val886Phe) c.2701G>T (p.Val901Phe) | |
17 | g.745354C>G | CA397503194 | GEMIN4 | c.2689G>C (p.Val897Leu) c.2656G>C (p.Val886Leu) c.2701G>C (p.Val901Leu) | |
17 | g.745354C>T | CA397503195 | GEMIN4 | c.2689G>A (p.Val897Ile) c.2656G>A (p.Val886Ile) c.2701G>A (p.Val901Ile) | |
17 | g.745355A>C | CA397503196 | GEMIN4 | c.2688T>G (p.Phe896Leu) c.2655T>G (p.Phe885Leu) c.2700T>G (p.Phe900Leu) | |
17 | g.745355A>G | CA497383733 | GEMIN4 | c.2688T>C (p.Phe896=) c.2655T>C (p.Phe885=) c.2700T>C (p.Phe900=) | |
17 | g.745355A>T | CA397503197 | GEMIN4 | c.2688T>A (p.Phe896Leu) c.2655T>A (p.Phe885Leu) c.2700T>A (p.Phe900Leu) | |
17 | g.745356A>C | CA397503198 | GEMIN4 | c.2687T>G (p.Phe896Cys) c.2654T>G (p.Phe885Cys) c.2699T>G (p.Phe900Cys) | |
17 | g.745356A>G | CA397503200 | GEMIN4 | c.2687T>C (p.Phe896Ser) c.2654T>C (p.Phe885Ser) c.2699T>C (p.Phe900Ser) | |
17 | g.745356A>T | CA397503199 | GEMIN4 | c.2687T>A (p.Phe896Tyr) c.2654T>A (p.Phe885Tyr) c.2699T>A (p.Phe900Tyr) | |
17 | g.745357A= | CA2242474212 | GEMIN4 | c.2686T= (p.Phe896=) c.2653T= (p.Phe885=) c.2698T= (p.Phe900=) | |
17 | g.745357A>C | CA397503201 | GEMIN4 | c.2686T>G (p.Phe896Val) c.2653T>G (p.Phe885Val) c.2698T>G (p.Phe900Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745357A>G | CA397503202 | GEMIN4 | c.2686T>C (p.Phe896Leu) c.2653T>C (p.Phe885Leu) c.2698T>C (p.Phe900Leu) | |
17 | g.745357A>T | CA397503203 | GEMIN4 | c.2686T>A (p.Phe896Ile) c.2653T>A (p.Phe885Ile) c.2698T>A (p.Phe900Ile) | |
17 | g.745358C>A | CA397503204 | GEMIN4 | c.2685G>T (p.Gln895His) c.2652G>T (p.Gln884His) c.2697G>T (p.Gln899His) | |
17 | g.745358C>G | CA397503205 | GEMIN4 | c.2685G>C (p.Gln895His) c.2652G>C (p.Gln884His) c.2697G>C (p.Gln899His) | |
17 | g.745358C>T | CA497383734 | GEMIN4 | c.2685G>A (p.Gln895=) c.2652G>A (p.Gln884=) c.2697G>A (p.Gln899=) | |
17 | g.745358_745360delinsCTG | CA2242474213 | GEMIN4 | c.2683_2685delinsCAG (p.Gln895=) c.2650_2652delinsCAG (p.Gln884=) c.2695_2697delinsCAG (p.Gln899=) | |
17 | g.745359T>A | CA397503206 | GEMIN4 | c.2684A>T (p.Gln895Leu) c.2651A>T (p.Gln884Leu) c.2696A>T (p.Gln899Leu) | |
17 | g.745359T>C | CA397503207 | GEMIN4 | c.2684A>G (p.Gln895Arg) c.2651A>G (p.Gln884Arg) c.2696A>G (p.Gln899Arg) | |
17 | g.745359T>G | CA397503208 | GEMIN4 | c.2684A>C (p.Gln895Pro) c.2651A>C (p.Gln884Pro) c.2696A>C (p.Gln899Pro) | |
17 | g.745359_745360del | CA497383735 | GEMIN4 | c.2683_2684del (p.Gln895ValfsTer?) c.2650_2651del (p.Gln884ValfsTer?) c.2695_2696del (p.Gln899ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745360G>A | CA397503209 | GEMIN4 | c.2683C>T (p.Gln895Ter) c.2650C>T (p.Gln884Ter) c.2695C>T (p.Gln899Ter) | |
17 | g.745360G>C | CA397503210 | GEMIN4 | c.2683C>G (p.Gln895Glu) c.2650C>G (p.Gln884Glu) c.2695C>G (p.Gln899Glu) | |
17 | g.745360G>T | CA397503211 | GEMIN4 | c.2683C>A (p.Gln895Lys) c.2650C>A (p.Gln884Lys) c.2695C>A (p.Gln899Lys) | |
17 | g.745361A>C | CA397503212 | GEMIN4 | c.2682T>G (p.Ile894Met) c.2649T>G (p.Ile883Met) c.2694T>G (p.Ile898Met) | |
17 | g.745361A>G | CA497383736 | GEMIN4 | c.2682T>C (p.Ile894=) c.2649T>C (p.Ile883=) c.2694T>C (p.Ile898=) | |
17 | g.745361A>T | CA497383737 | GEMIN4 | c.2682T>A (p.Ile894=) c.2649T>A (p.Ile883=) c.2694T>A (p.Ile898=) | |
17 | g.745362A>C | CA397503214 | GEMIN4 | c.2681T>G (p.Ile894Ser) c.2648T>G (p.Ile883Ser) c.2693T>G (p.Ile898Ser) | |
17 | g.745362A>G | CA397503213 | GEMIN4 | c.2681T>C (p.Ile894Thr) c.2648T>C (p.Ile883Thr) c.2693T>C (p.Ile898Thr) | |
17 | g.745362A>T | CA397503215 | GEMIN4 | c.2681T>A (p.Ile894Asn) c.2648T>A (p.Ile883Asn) c.2693T>A (p.Ile898Asn) | |
17 | g.745363T>A | CA397503216 | GEMIN4 | c.2680A>T (p.Ile894Phe) c.2647A>T (p.Ile883Phe) c.2692A>T (p.Ile898Phe) | gnomAD v4 |
17 | g.745363T>C | CA397503217 | GEMIN4 | c.2680A>G (p.Ile894Val) c.2647A>G (p.Ile883Val) c.2692A>G (p.Ile898Val) | |
17 | g.745363T>G | CA397503218 | GEMIN4 | c.2680A>C (p.Ile894Leu) c.2647A>C (p.Ile883Leu) c.2692A>C (p.Ile898Leu) | |
17 | g.745364A>C | CA397503219 | GEMIN4 | c.2679T>G (p.Tyr893Ter) c.2646T>G (p.Tyr882Ter) c.2691T>G (p.Tyr897Ter) | |
17 | g.745364A>G | CA497383738 | GEMIN4 | c.2679T>C (p.Tyr893=) c.2646T>C (p.Tyr882=) c.2691T>C (p.Tyr897=) | |
17 | g.745364A>T | CA397503220 | GEMIN4 | c.2679T>A (p.Tyr893Ter) c.2646T>A (p.Tyr882Ter) c.2691T>A (p.Tyr897Ter) | |
17 | g.745365T>A | CA397503223 | GEMIN4 | c.2678A>T (p.Tyr893Phe) c.2645A>T (p.Tyr882Phe) c.2690A>T (p.Tyr897Phe) | |
17 | g.745365T>C | CA397503222 | GEMIN4 | c.2678A>G (p.Tyr893Cys) c.2645A>G (p.Tyr882Cys) c.2690A>G (p.Tyr897Cys) | |
17 | g.745365T>G | CA397503221 | GEMIN4 | c.2678A>C (p.Tyr893Ser) c.2645A>C (p.Tyr882Ser) c.2690A>C (p.Tyr897Ser) | |
17 | g.745366A>C | CA397503224 | GEMIN4 | c.2677T>G (p.Tyr893Asp) c.2644T>G (p.Tyr882Asp) c.2689T>G (p.Tyr897Asp) | |
17 | g.745366A>G | CA397503225 | GEMIN4 | c.2677T>C (p.Tyr893His) c.2644T>C (p.Tyr882His) c.2689T>C (p.Tyr897His) | |
17 | g.745366A>T | CA397503226 | GEMIN4 | c.2677T>A (p.Tyr893Asn) c.2644T>A (p.Tyr882Asn) c.2689T>A (p.Tyr897Asn) | |
17 | g.745367T>A | CA397503227 | GEMIN4 | c.2676A>T (p.Glu892Asp) c.2643A>T (p.Glu881Asp) c.2688A>T (p.Glu896Asp) | |
17 | g.745367T>C | CA286713640 | GEMIN4 | c.2676A>G (p.Glu892=) c.2643A>G (p.Glu881=) c.2688A>G (p.Glu896=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745367T>G | CA286713641 | GEMIN4 | c.2676A>C (p.Glu892Asp) c.2643A>C (p.Glu881Asp) c.2688A>C (p.Glu896Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745367T= | CA2242474214 | GEMIN4 | c.2676A= (p.Glu892=) c.2643A= (p.Glu881=) c.2688A= (p.Glu896=) | |
17 | g.745368T>A | CA397503228 | GEMIN4 | c.2675A>T (p.Glu892Val) c.2642A>T (p.Glu881Val) c.2687A>T (p.Glu896Val) | |
17 | g.745368T>C | CA397503230 | GEMIN4 | c.2675A>G (p.Glu892Gly) c.2642A>G (p.Glu881Gly) c.2687A>G (p.Glu896Gly) | |
17 | g.745368T>G | CA397503229 | GEMIN4 | c.2675A>C (p.Glu892Ala) c.2642A>C (p.Glu881Ala) c.2687A>C (p.Glu896Ala) | |
17 | g.745369C>A | CA397503231 | GEMIN4 | c.2674G>T (p.Glu892Ter) c.2641G>T (p.Glu881Ter) c.2686G>T (p.Glu896Ter) | |
17 | g.745369C= | CA2242474215 | GEMIN4 | c.2674G= (p.Glu892=) c.2641G= (p.Glu881=) c.2686G= (p.Glu896=) | |
17 | g.745369C>G | CA397503232 | GEMIN4 | c.2674G>C (p.Glu892Gln) c.2641G>C (p.Glu881Gln) c.2686G>C (p.Glu896Gln) | gnomAD v4 |
17 | g.745369C>T | CA397503233 | GEMIN4 | c.2674G>A (p.Glu892Lys) c.2641G>A (p.Glu881Lys) c.2686G>A (p.Glu896Lys) | dbSNP gnomAD v4 |
17 | g.745370C>A | CA497383740 | GEMIN4 | c.2673G>T (p.Leu891=) c.2640G>T (p.Leu880=) c.2685G>T (p.Leu895=) | |
17 | g.745370C= | CA2242474216 | GEMIN4 | c.2673G= (p.Leu891=) c.2640G= (p.Leu880=) c.2685G= (p.Leu895=) | |
17 | g.745370C>G | CA497383741 | GEMIN4 | c.2673G>C (p.Leu891=) c.2640G>C (p.Leu880=) c.2685G>C (p.Leu895=) | dbSNP |
17 | g.745370C>T | CA497383743 | GEMIN4 | c.2673G>A (p.Leu891=) c.2640G>A (p.Leu880=) c.2685G>A (p.Leu895=) | |
17 | g.745371A= | CA2242474217 | GEMIN4 | c.2672T= (p.Leu891=) c.2639T= (p.Leu880=) c.2684T= (p.Leu895=) | |
17 | g.745371A>C | CA397503234 | GEMIN4 | c.2672T>G (p.Leu891Arg) c.2639T>G (p.Leu880Arg) c.2684T>G (p.Leu895Arg) | |
17 | g.745371A>G | CA397503235 | GEMIN4 | c.2672T>C (p.Leu891Pro) c.2639T>C (p.Leu880Pro) c.2684T>C (p.Leu895Pro) | dbSNP |
17 | g.745371A>T | CA397503236 | GEMIN4 | c.2672T>A (p.Leu891Gln) c.2639T>A (p.Leu880Gln) c.2684T>A (p.Leu895Gln) | |
17 | g.745372G>A | CA497383744 | GEMIN4 | c.2671C>T (p.Leu891=) c.2638C>T (p.Leu880=) c.2683C>T (p.Leu895=) | |
17 | g.745372G>C | CA397503237 | GEMIN4 | c.2671C>G (p.Leu891Val) c.2638C>G (p.Leu880Val) c.2683C>G (p.Leu895Val) | gnomAD v4 |
17 | g.745372G>T | CA397503238 | GEMIN4 | c.2671C>A (p.Leu891Met) c.2638C>A (p.Leu880Met) c.2683C>A (p.Leu895Met) | |
17 | g.745373G>A | CA497383745 | GEMIN4 | c.2670C>T (p.Ser890=) c.2637C>T (p.Ser879=) c.2682C>T (p.Ser894=) | |
17 | g.745373G>C | CA397503239 | GEMIN4 | c.2670C>G (p.Ser890Arg) c.2637C>G (p.Ser879Arg) c.2682C>G (p.Ser894Arg) | |
17 | g.745373G>T | CA397503240 | GEMIN4 | c.2670C>A (p.Ser890Arg) c.2637C>A (p.Ser879Arg) c.2682C>A (p.Ser894Arg) | |
17 | g.745374C>A | CA397503243 | GEMIN4 | c.2669G>T (p.Ser890Ile) c.2636G>T (p.Ser879Ile) c.2681G>T (p.Ser894Ile) | |
17 | g.745374C= | CA2242474218 | GEMIN4 | c.2669G= (p.Ser890=) c.2636G= (p.Ser879=) c.2681G= (p.Ser894=) | |
17 | g.745374C>G | CA397503242 | GEMIN4 | c.2669G>C (p.Ser890Thr) c.2636G>C (p.Ser879Thr) c.2681G>C (p.Ser894Thr) | |
17 | g.745374C>T | CA397503241 | GEMIN4 | c.2669G>A (p.Ser890Asn) c.2636G>A (p.Ser879Asn) c.2681G>A (p.Ser894Asn) | dbSNP gnomAD v4 |
17 | g.745375T>A | CA397503244 | GEMIN4 | c.2668A>T (p.Ser890Cys) c.2635A>T (p.Ser879Cys) c.2680A>T (p.Ser894Cys) | |
17 | g.745375T>C | CA397503245 | GEMIN4 | c.2668A>G (p.Ser890Gly) c.2635A>G (p.Ser879Gly) c.2680A>G (p.Ser894Gly) | |
17 | g.745375T>G | CA397503246 | GEMIN4 | c.2668A>C (p.Ser890Arg) c.2635A>C (p.Ser879Arg) c.2680A>C (p.Ser894Arg) | |
17 | g.745376A>C | CA397503247 | GEMIN4 | c.2667T>G (p.Tyr889Ter) c.2634T>G (p.Tyr878Ter) c.2679T>G (p.Tyr893Ter) | |
17 | g.745376A>G | CA497383753 | GEMIN4 | c.2667T>C (p.Tyr889=) c.2634T>C (p.Tyr878=) c.2679T>C (p.Tyr893=) | gnomAD v4 |
17 | g.745376A>T | CA397503248 | GEMIN4 | c.2667T>A (p.Tyr889Ter) c.2634T>A (p.Tyr878Ter) c.2679T>A (p.Tyr893Ter) | |
17 | g.745377T>A | CA397503251 | GEMIN4 | c.2666A>T (p.Tyr889Phe) c.2633A>T (p.Tyr878Phe) c.2678A>T (p.Tyr893Phe) | |
17 | g.745377T>C | CA397503250 | GEMIN4 | c.2666A>G (p.Tyr889Cys) c.2633A>G (p.Tyr878Cys) c.2678A>G (p.Tyr893Cys) | dbSNP gnomAD v4 |
17 | g.745377T>G | CA397503249 | GEMIN4 | c.2666A>C (p.Tyr889Ser) c.2633A>C (p.Tyr878Ser) c.2678A>C (p.Tyr893Ser) | |
17 | g.745377T= | CA2242474219 | GEMIN4 | c.2666A= (p.Tyr889=) c.2633A= (p.Tyr878=) c.2678A= (p.Tyr893=) | |
17 | g.745378A= | CA2242474220 | GEMIN4 | c.2665T= (p.Tyr889=) c.2632T= (p.Tyr878=) c.2677T= (p.Tyr893=) | |
17 | g.745378A>C | CA397503252 | GEMIN4 | c.2665T>G (p.Tyr889Asp) c.2632T>G (p.Tyr878Asp) c.2677T>G (p.Tyr893Asp) | |
17 | g.745378A>G | CA8262379 | GEMIN4 | c.2665T>C (p.Tyr889His) c.2632T>C (p.Tyr878His) c.2677T>C (p.Tyr893His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745378A>T | CA397503253 | GEMIN4 | c.2665T>A (p.Tyr889Asn) c.2632T>A (p.Tyr878Asn) c.2677T>A (p.Tyr893Asn) | |
17 | g.745379A>C | CA497383761 | GEMIN4 | c.2664T>G (p.Pro888=) c.2631T>G (p.Pro877=) c.2676T>G (p.Pro892=) | |
17 | g.745379A>G | CA497383762 | GEMIN4 | c.2664T>C (p.Pro888=) c.2631T>C (p.Pro877=) c.2676T>C (p.Pro892=) | dbSNP |
17 | g.745379A>T | CA497383763 | GEMIN4 | c.2664T>A (p.Pro888=) c.2631T>A (p.Pro877=) c.2676T>A (p.Pro892=) | |
17 | g.745380G>A | CA8262380 | GEMIN4 | c.2663C>T (p.Pro888Leu) c.2630C>T (p.Pro877Leu) c.2675C>T (p.Pro892Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745380G>C | CA397503254 | GEMIN4 | c.2663C>G (p.Pro888Arg) c.2630C>G (p.Pro877Arg) c.2675C>G (p.Pro892Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745380G= | CA2242474221 | GEMIN4 | c.2663C= (p.Pro888=) c.2630C= (p.Pro877=) c.2675C= (p.Pro892=) | |
17 | g.745380G>T | CA397503255 | GEMIN4 | c.2663C>A (p.Pro888His) c.2630C>A (p.Pro877His) c.2675C>A (p.Pro892His) | |
17 | g.745381G>A | CA397503256 | GEMIN4 | c.2662C>T (p.Pro888Ser) c.2629C>T (p.Pro877Ser) c.2674C>T (p.Pro892Ser) | |
17 | g.745381G>C | CA397503258 | GEMIN4 | c.2662C>G (p.Pro888Ala) c.2629C>G (p.Pro877Ala) c.2674C>G (p.Pro892Ala) | |
17 | g.745381G>T | CA397503257 | GEMIN4 | c.2662C>A (p.Pro888Thr) c.2629C>A (p.Pro877Thr) c.2674C>A (p.Pro892Thr) | |
17 | g.745382G>A | CA497383766 | GEMIN4 | c.2661C>T (p.Val887=) c.2628C>T (p.Val876=) c.2673C>T (p.Val891=) | gnomAD v4 |
17 | g.745382G>C | CA497383767 | GEMIN4 | c.2661C>G (p.Val887=) c.2628C>G (p.Val876=) c.2673C>G (p.Val891=) | |
17 | g.745382G= | CA2242474222 | GEMIN4 | c.2661C= (p.Val887=) c.2628C= (p.Val876=) c.2673C= (p.Val891=) | |
17 | g.745382G>T | CA286713642 | GEMIN4 | c.2661C>A (p.Val887=) c.2628C>A (p.Val876=) c.2673C>A (p.Val891=) | dbSNP |
17 | g.745383A>C | CA397503259 | GEMIN4 | c.2660T>G (p.Val887Gly) c.2627T>G (p.Val876Gly) c.2672T>G (p.Val891Gly) | |
17 | g.745383A>G | CA397503260 | GEMIN4 | c.2660T>C (p.Val887Ala) c.2627T>C (p.Val876Ala) c.2672T>C (p.Val891Ala) | gnomAD v4 |
17 | g.745383A>T | CA397503261 | GEMIN4 | c.2660T>A (p.Val887Asp) c.2627T>A (p.Val876Asp) c.2672T>A (p.Val891Asp) | |
17 | g.745384C>A | CA397503262 | GEMIN4 | c.2659G>T (p.Val887Phe) c.2626G>T (p.Val876Phe) c.2671G>T (p.Val891Phe) | |
17 | g.745384C>G | CA397503263 | GEMIN4 | c.2659G>C (p.Val887Leu) c.2626G>C (p.Val876Leu) c.2671G>C (p.Val891Leu) | |
17 | g.745384C>T | CA397503264 | GEMIN4 | c.2659G>A (p.Val887Ile) c.2626G>A (p.Val876Ile) c.2671G>A (p.Val891Ile) | |
17 | g.745385A>C | CA397503265 | GEMIN4 | c.2658T>G (p.His886Gln) c.2625T>G (p.His875Gln) c.2670T>G (p.His890Gln) | |
17 | g.745385A>G | CA497383770 | GEMIN4 | c.2658T>C (p.His886=) c.2625T>C (p.His875=) c.2670T>C (p.His890=) | |
17 | g.745385A>T | CA397503266 | GEMIN4 | c.2658T>A (p.His886Gln) c.2625T>A (p.His875Gln) c.2670T>A (p.His890Gln) | |
17 | g.745385_745386delinsAT | CA2242474223 | GEMIN4 | c.2657_2658delinsAT (p.His886=) c.2624_2625delinsAT (p.His875=) c.2669_2670delinsAT (p.His890=) | |
17 | g.745386del | CA8262381 | GEMIN4 | c.2657del (p.His886LeufsTer17) c.2624del (p.His875LeufsTer17) c.2669del (p.His890LeufsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745386T>A | CA397503267 | GEMIN4 | c.2657A>T (p.His886Leu) c.2624A>T (p.His875Leu) c.2669A>T (p.His890Leu) | |
17 | g.745386T>C | CA8262382 | GEMIN4 | c.2657A>G (p.His886Arg) c.2624A>G (p.His875Arg) c.2669A>G (p.His890Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745386T>G | CA397503268 | GEMIN4 | c.2657A>C (p.His886Pro) c.2624A>C (p.His875Pro) c.2669A>C (p.His890Pro) | |
17 | g.745386T= | CA2242474224 | GEMIN4 | c.2657A= (p.His886=) c.2624A= (p.His875=) c.2669A= (p.His890=) | |
17 | g.745387G>A | CA397503270 | GEMIN4 | c.2656C>T (p.His886Tyr) c.2623C>T (p.His875Tyr) c.2668C>T (p.His890Tyr) | |
17 | g.745387G>C | CA397503271 | GEMIN4 | c.2656C>G (p.His886Asp) c.2623C>G (p.His875Asp) c.2668C>G (p.His890Asp) | |
17 | g.745387G>T | CA397503269 | GEMIN4 | c.2656C>A (p.His886Asn) c.2623C>A (p.His875Asn) c.2668C>A (p.His890Asn) | |
17 | g.745388G>A | CA497383777 | GEMIN4 | c.2655C>T (p.Leu885=) c.2622C>T (p.Leu874=) c.2667C>T (p.Leu889=) | dbSNP |
17 | g.745388G>C | CA497383778 | GEMIN4 | c.2655C>G (p.Leu885=) c.2622C>G (p.Leu874=) c.2667C>G (p.Leu889=) | |
17 | g.745388G= | CA2242474225 | GEMIN4 | c.2655C= (p.Leu885=) c.2622C= (p.Leu874=) c.2667C= (p.Leu889=) | |
17 | g.745388G>T | CA497383776 | GEMIN4 | c.2655C>A (p.Leu885=) c.2622C>A (p.Leu874=) c.2667C>A (p.Leu889=) | |
17 | g.745389A>C | CA397503273 | GEMIN4 | c.2654T>G (p.Leu885Arg) c.2621T>G (p.Leu874Arg) c.2666T>G (p.Leu889Arg) | |
17 | g.745389A>G | CA397503272 | GEMIN4 | c.2654T>C (p.Leu885Pro) c.2621T>C (p.Leu874Pro) c.2666T>C (p.Leu889Pro) | |
17 | g.745389A>T | CA397503274 | GEMIN4 | c.2654T>A (p.Leu885His) c.2621T>A (p.Leu874His) c.2666T>A (p.Leu889His) | |
17 | g.745390G>A | CA286713643 | GEMIN4 | c.2653C>T (p.Leu885Phe) c.2620C>T (p.Leu874Phe) c.2665C>T (p.Leu889Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745390G>C | CA397503276 | GEMIN4 | c.2653C>G (p.Leu885Val) c.2620C>G (p.Leu874Val) c.2665C>G (p.Leu889Val) | |
17 | g.745390G= | CA2242474226 | GEMIN4 | c.2653C= (p.Leu885=) c.2620C= (p.Leu874=) c.2665C= (p.Leu889=) | |
17 | g.745390G>T | CA397503275 | GEMIN4 | c.2653C>A (p.Leu885Ile) c.2620C>A (p.Leu874Ile) c.2665C>A (p.Leu889Ile) | |
17 | g.745391G>A | CA497383784 | GEMIN4 | c.2652C>T (p.Leu884=) c.2619C>T (p.Leu873=) c.2664C>T (p.Leu888=) | |
17 | g.745391G>C | CA497383782 | GEMIN4 | c.2652C>G (p.Leu884=) c.2619C>G (p.Leu873=) c.2664C>G (p.Leu888=) | |
17 | g.745391G>T | CA497383783 | GEMIN4 | c.2652C>A (p.Leu884=) c.2619C>A (p.Leu873=) c.2664C>A (p.Leu888=) | |
17 | g.745392A= | CA2242474227 | GEMIN4 | c.2651T= (p.Leu884=) c.2618T= (p.Leu873=) c.2663T= (p.Leu888=) | |
17 | g.745392A>C | CA397503277 | GEMIN4 | c.2651T>G (p.Leu884Arg) c.2618T>G (p.Leu873Arg) c.2663T>G (p.Leu888Arg) | gnomAD v4 |
17 | g.745392A>G | CA8262383 | GEMIN4 | c.2651T>C (p.Leu884Pro) c.2618T>C (p.Leu873Pro) c.2663T>C (p.Leu888Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745392A>T | CA397503278 | GEMIN4 | c.2651T>A (p.Leu884His) c.2618T>A (p.Leu873His) c.2663T>A (p.Leu888His) | |
17 | g.745393G>A | CA397503279 | GEMIN4 | c.2650C>T (p.Leu884Phe) c.2617C>T (p.Leu873Phe) c.2662C>T (p.Leu888Phe) | gnomAD v4 |
17 | g.745393G>C | CA397503281 | GEMIN4 | c.2650C>G (p.Leu884Val) c.2617C>G (p.Leu873Val) c.2662C>G (p.Leu888Val) | gnomAD v4 |
17 | g.745393G>T | CA397503280 | GEMIN4 | c.2650C>A (p.Leu884Ile) c.2617C>A (p.Leu873Ile) c.2662C>A (p.Leu888Ile) | |
17 | g.745394C>A | CA397503282 | GEMIN4 | c.2649G>T (p.Gln883His) c.2616G>T (p.Gln872His) c.2661G>T (p.Gln887His) | |
17 | g.745394C>G | CA397503283 | GEMIN4 | c.2649G>C (p.Gln883His) c.2616G>C (p.Gln872His) c.2661G>C (p.Gln887His) | ClinVar gnomAD v4 |
17 | g.745394C>T | CA497383794 | GEMIN4 | c.2649G>A (p.Gln883=) c.2616G>A (p.Gln872=) c.2661G>A (p.Gln887=) | |
17 | g.745395T>A | CA397503284 | GEMIN4 | c.2648A>T (p.Gln883Leu) c.2615A>T (p.Gln872Leu) c.2660A>T (p.Gln887Leu) | gnomAD v4 |
17 | g.745395T>C | CA397503285 | GEMIN4 | c.2648A>G (p.Gln883Arg) c.2615A>G (p.Gln872Arg) c.2660A>G (p.Gln887Arg) | |
17 | g.745395T>G | CA397503286 | GEMIN4 | c.2648A>C (p.Gln883Pro) c.2615A>C (p.Gln872Pro) c.2660A>C (p.Gln887Pro) | |
17 | g.745396G>A | CA397503287 | GEMIN4 | c.2647C>T (p.Gln883Ter) c.2614C>T (p.Gln872Ter) c.2659C>T (p.Gln887Ter) | |
17 | g.745396G>C | CA397503288 | GEMIN4 | c.2647C>G (p.Gln883Glu) c.2614C>G (p.Gln872Glu) c.2659C>G (p.Gln887Glu) | |
17 | g.745396G>T | CA397503289 | GEMIN4 | c.2647C>A (p.Gln883Lys) c.2614C>A (p.Gln872Lys) c.2659C>A (p.Gln887Lys) | |
17 | g.745397C>A | CA397503290 | GEMIN4 | c.2646G>T (p.Lys882Asn) c.2613G>T (p.Lys871Asn) c.2658G>T (p.Lys886Asn) | |
17 | g.745397C>G | CA397503291 | GEMIN4 | c.2646G>C (p.Lys882Asn) c.2613G>C (p.Lys871Asn) c.2658G>C (p.Lys886Asn) | gnomAD v4 |
17 | g.745397C>T | CA497383807 | GEMIN4 | c.2646G>A (p.Lys882=) c.2613G>A (p.Lys871=) c.2658G>A (p.Lys886=) | |
17 | g.745398T>A | CA397503294 | GEMIN4 | c.2645A>T (p.Lys882Met) c.2612A>T (p.Lys871Met) c.2657A>T (p.Lys886Met) | |
17 | g.745398T>C | CA397503293 | GEMIN4 | c.2645A>G (p.Lys882Arg) c.2612A>G (p.Lys871Arg) c.2657A>G (p.Lys886Arg) | |
17 | g.745398T>G | CA397503292 | GEMIN4 | c.2645A>C (p.Lys882Thr) c.2612A>C (p.Lys871Thr) c.2657A>C (p.Lys886Thr) | |
17 | g.745399T>A | CA397503295 | GEMIN4 | c.2644A>T (p.Lys882Ter) c.2611A>T (p.Lys871Ter) c.2656A>T (p.Lys886Ter) | |
17 | g.745399T>C | CA397503296 | GEMIN4 | c.2644A>G (p.Lys882Glu) c.2611A>G (p.Lys871Glu) c.2656A>G (p.Lys886Glu) | |
17 | g.745399T>G | CA397503297 | GEMIN4 | c.2644A>C (p.Lys882Gln) c.2611A>C (p.Lys871Gln) c.2656A>C (p.Lys886Gln) | |
17 | g.745400C>A | CA397503298 | GEMIN4 | c.2643G>T (p.Glu881Asp) c.2610G>T (p.Glu870Asp) c.2655G>T (p.Glu885Asp) | |
17 | g.745400C>G | CA397503299 | GEMIN4 | c.2643G>C (p.Glu881Asp) c.2610G>C (p.Glu870Asp) c.2655G>C (p.Glu885Asp) | |
17 | g.745400C>T | CA497383816 | GEMIN4 | c.2643G>A (p.Glu881=) c.2610G>A (p.Glu870=) c.2655G>A (p.Glu885=) | gnomAD v4 |
17 | g.745401T>A | CA397503300 | GEMIN4 | c.2642A>T (p.Glu881Val) c.2609A>T (p.Glu870Val) c.2654A>T (p.Glu885Val) | gnomAD v4 |
17 | g.745401T>C | CA397503301 | GEMIN4 | c.2642A>G (p.Glu881Gly) c.2609A>G (p.Glu870Gly) c.2654A>G (p.Glu885Gly) | |
17 | g.745401T>G | CA397503302 | GEMIN4 | c.2642A>C (p.Glu881Ala) c.2609A>C (p.Glu870Ala) c.2654A>C (p.Glu885Ala) | |
17 | g.745402C>A | CA397503303 | GEMIN4 | c.2641G>T (p.Glu881Ter) c.2608G>T (p.Glu870Ter) c.2653G>T (p.Glu885Ter) | gnomAD v4 |
17 | g.745402C>G | CA397503304 | GEMIN4 | c.2641G>C (p.Glu881Gln) c.2608G>C (p.Glu870Gln) c.2653G>C (p.Glu885Gln) | |
17 | g.745402C>T | CA397503305 | GEMIN4 | c.2641G>A (p.Glu881Lys) c.2608G>A (p.Glu870Lys) c.2653G>A (p.Glu885Lys) | |
17 | g.745403C>A | CA497383823 | GEMIN4 | c.2640G>T (p.Leu880=) c.2607G>T (p.Leu869=) c.2652G>T (p.Leu884=) | |
17 | g.745403C>G | CA497383824 | GEMIN4 | c.2640G>C (p.Leu880=) c.2607G>C (p.Leu869=) c.2652G>C (p.Leu884=) | |
17 | g.745403C>T | CA497383825 | GEMIN4 | c.2640G>A (p.Leu880=) c.2607G>A (p.Leu869=) c.2652G>A (p.Leu884=) | |
17 | g.745404A>C | CA397503307 | GEMIN4 | c.2639T>G (p.Leu880Arg) c.2606T>G (p.Leu869Arg) c.2651T>G (p.Leu884Arg) | |
17 | g.745404A>G | CA397503308 | GEMIN4 | c.2639T>C (p.Leu880Pro) c.2606T>C (p.Leu869Pro) c.2651T>C (p.Leu884Pro) | |
17 | g.745404A>T | CA397503306 | GEMIN4 | c.2639T>A (p.Leu880Gln) c.2606T>A (p.Leu869Gln) c.2651T>A (p.Leu884Gln) | |
17 | g.745405G>A | CA497383830 | GEMIN4 | c.2638C>T (p.Leu880=) c.2605C>T (p.Leu869=) c.2650C>T (p.Leu884=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745405G>C | CA397503309 | GEMIN4 | c.2638C>G (p.Leu880Val) c.2605C>G (p.Leu869Val) c.2650C>G (p.Leu884Val) | |
17 | g.745405G= | CA2242474228 | GEMIN4 | c.2638C= (p.Leu880=) c.2605C= (p.Leu869=) c.2650C= (p.Leu884=) | |
17 | g.745405G>T | CA397503310 | GEMIN4 | c.2638C>A (p.Leu880Met) c.2605C>A (p.Leu869Met) c.2650C>A (p.Leu884Met) | |
17 | g.745406C>A | CA497383835 | GEMIN4 | c.2637G>T (p.Leu879=) c.2604G>T (p.Leu868=) c.2649G>T (p.Leu883=) | |
17 | g.745406C>G | CA497383836 | GEMIN4 | c.2637G>C (p.Leu879=) c.2604G>C (p.Leu868=) c.2649G>C (p.Leu883=) | gnomAD v4 |
17 | g.745406C>T | CA497383834 | GEMIN4 | c.2637G>A (p.Leu879=) c.2604G>A (p.Leu868=) c.2649G>A (p.Leu883=) | |
17 | g.745407A>C | CA397503311 | GEMIN4 | c.2636T>G (p.Leu879Arg) c.2603T>G (p.Leu868Arg) c.2648T>G (p.Leu883Arg) | gnomAD v4 |
17 | g.745407A>G | CA397503312 | GEMIN4 | c.2636T>C (p.Leu879Pro) c.2603T>C (p.Leu868Pro) c.2648T>C (p.Leu883Pro) | |
17 | g.745407A>T | CA397503313 | GEMIN4 | c.2636T>A (p.Leu879Gln) c.2603T>A (p.Leu868Gln) c.2648T>A (p.Leu883Gln) | |
17 | g.745408G>A | CA497383840 | GEMIN4 | c.2635C>T (p.Leu879=) c.2602C>T (p.Leu868=) c.2647C>T (p.Leu883=) | gnomAD v4 |
17 | g.745408G>C | CA397503314 | GEMIN4 | c.2635C>G (p.Leu879Val) c.2602C>G (p.Leu868Val) c.2647C>G (p.Leu883Val) | gnomAD v4 |
17 | g.745408G>T | CA397503315 | GEMIN4 | c.2635C>A (p.Leu879Met) c.2602C>A (p.Leu868Met) c.2647C>A (p.Leu883Met) | |
17 | g.745409T>A | CA397503316 | GEMIN4 | c.2634A>T (p.Arg878Ser) c.2601A>T (p.Arg867Ser) c.2646A>T (p.Arg882Ser) | |
17 | g.745409T>C | CA497383844 | GEMIN4 | c.2634A>G (p.Arg878=) c.2601A>G (p.Arg867=) c.2646A>G (p.Arg882=) | |
17 | g.745409T>G | CA397503317 | GEMIN4 | c.2634A>C (p.Arg878Ser) c.2601A>C (p.Arg867Ser) c.2646A>C (p.Arg882Ser) | |
17 | g.745410C>A | CA397503318 | GEMIN4 | c.2633G>T (p.Arg878Ile) c.2600G>T (p.Arg867Ile) c.2645G>T (p.Arg882Ile) | |
17 | g.745410C>G | CA397503319 | GEMIN4 | c.2633G>C (p.Arg878Thr) c.2600G>C (p.Arg867Thr) c.2645G>C (p.Arg882Thr) | |
17 | g.745410C>T | CA397503320 | GEMIN4 | c.2633G>A (p.Arg878Lys) c.2600G>A (p.Arg867Lys) c.2645G>A (p.Arg882Lys) | |
17 | g.745411T>A | CA397503322 | GEMIN4 | c.2632A>T (p.Arg878Ter) c.2599A>T (p.Arg867Ter) c.2644A>T (p.Arg882Ter) | |
17 | g.745411T>C | CA397503321 | GEMIN4 | c.2632A>G (p.Arg878Gly) c.2599A>G (p.Arg867Gly) c.2644A>G (p.Arg882Gly) | |
17 | g.745411T>G | CA497383851 | GEMIN4 | c.2632A>C (p.Arg878=) c.2599A>C (p.Arg867=) c.2644A>C (p.Arg882=) | |
17 | g.745412C>A | CA397503323 | GEMIN4 | c.2631G>T (p.Arg877Ser) c.2598G>T (p.Arg866Ser) c.2643G>T (p.Arg881Ser) | gnomAD v4 |
17 | g.745412C>G | CA397503324 | GEMIN4 | c.2631G>C (p.Arg877Ser) c.2598G>C (p.Arg866Ser) c.2643G>C (p.Arg881Ser) | |
17 | g.745412C>T | CA497383857 | GEMIN4 | c.2631G>A (p.Arg877=) c.2598G>A (p.Arg866=) c.2643G>A (p.Arg881=) | |
17 | g.745413C>A | CA397503325 | GEMIN4 | c.2630G>T (p.Arg877Met) c.2597G>T (p.Arg866Met) c.2642G>T (p.Arg881Met) | |
17 | g.745413C>G | CA397503326 | GEMIN4 | c.2630G>C (p.Arg877Thr) c.2597G>C (p.Arg866Thr) c.2642G>C (p.Arg881Thr) | |
17 | g.745413C>T | CA397503327 | GEMIN4 | c.2630G>A (p.Arg877Lys) c.2597G>A (p.Arg866Lys) c.2642G>A (p.Arg881Lys) | |
17 | g.745414T>A | CA397503328 | GEMIN4 | c.2629A>T (p.Arg877Trp) c.2596A>T (p.Arg866Trp) c.2641A>T (p.Arg881Trp) | |
17 | g.745414T>C | CA8262384 | GEMIN4 | c.2629A>G (p.Arg877Gly) c.2596A>G (p.Arg866Gly) c.2641A>G (p.Arg881Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745414T>G | CA497383864 | GEMIN4 | c.2629A>C (p.Arg877=) c.2596A>C (p.Arg866=) c.2641A>C (p.Arg881=) | |
17 | g.745414T= | CA2242474229 | GEMIN4 | c.2629A= (p.Arg877=) c.2596A= (p.Arg866=) c.2641A= (p.Arg881=) | |
17 | g.745415G>A | CA497383866 | GEMIN4 | c.2628C>T (p.Thr876=) c.2595C>T (p.Thr865=) c.2640C>T (p.Thr880=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.745415G>C | CA497383867 | GEMIN4 | c.2628C>G (p.Thr876=) c.2595C>G (p.Thr865=) c.2640C>G (p.Thr880=) | dbSNP |
17 | g.745415G= | CA2242474230 | GEMIN4 | c.2628C= (p.Thr876=) c.2595C= (p.Thr865=) c.2640C= (p.Thr880=) | |
17 | g.745415G>T | CA497383868 | GEMIN4 | c.2628C>A (p.Thr876=) c.2595C>A (p.Thr865=) c.2640C>A (p.Thr880=) | |
17 | g.745416G>A | CA397503329 | GEMIN4 | c.2627C>T (p.Thr876Ile) c.2594C>T (p.Thr865Ile) c.2639C>T (p.Thr880Ile) | gnomAD v4 |
17 | g.745416G>C | CA397503330 | GEMIN4 | c.2627C>G (p.Thr876Ser) c.2594C>G (p.Thr865Ser) c.2639C>G (p.Thr880Ser) | gnomAD v4 |
17 | g.745416G>T | CA397503331 | GEMIN4 | c.2627C>A (p.Thr876Asn) c.2594C>A (p.Thr865Asn) c.2639C>A (p.Thr880Asn) | |
17 | g.745417T>A | CA397503332 | GEMIN4 | c.2626A>T (p.Thr876Ser) c.2593A>T (p.Thr865Ser) c.2638A>T (p.Thr880Ser) | |
17 | g.745417T>C | CA397503333 | GEMIN4 | c.2626A>G (p.Thr876Ala) c.2593A>G (p.Thr865Ala) c.2638A>G (p.Thr880Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745417T>G | CA397503334 | GEMIN4 | c.2626A>C (p.Thr876Pro) c.2593A>C (p.Thr865Pro) c.2638A>C (p.Thr880Pro) | |
17 | g.745417T= | CA2242474231 | GEMIN4 | c.2626A= (p.Thr876=) c.2593A= (p.Thr865=) c.2638A= (p.Thr880=) | |
17 | g.745418C>A | CA497383874 | GEMIN4 | c.2625G>T (p.Leu875=) c.2592G>T (p.Leu864=) c.2637G>T (p.Leu879=) | |
17 | g.745418C>G | CA497383878 | GEMIN4 | c.2625G>C (p.Leu875=) c.2592G>C (p.Leu864=) c.2637G>C (p.Leu879=) | |
17 | g.745418C>T | CA497383876 | GEMIN4 | c.2625G>A (p.Leu875=) c.2592G>A (p.Leu864=) c.2637G>A (p.Leu879=) | |
17 | g.745419A>C | CA397503337 | GEMIN4 | c.2624T>G (p.Leu875Arg) c.2591T>G (p.Leu864Arg) c.2636T>G (p.Leu879Arg) | |
17 | g.745419A>G | CA397503336 | GEMIN4 | c.2624T>C (p.Leu875Pro) c.2591T>C (p.Leu864Pro) c.2636T>C (p.Leu879Pro) | gnomAD v4 |
17 | g.745419A>T | CA397503335 | GEMIN4 | c.2624T>A (p.Leu875Gln) c.2591T>A (p.Leu864Gln) c.2636T>A (p.Leu879Gln) | |
17 | g.745420G>A | CA497383884 | GEMIN4 | c.2623C>T (p.Leu875=) c.2590C>T (p.Leu864=) c.2635C>T (p.Leu879=) | |
17 | g.745420G>C | CA397503338 | GEMIN4 | c.2623C>G (p.Leu875Val) c.2590C>G (p.Leu864Val) c.2635C>G (p.Leu879Val) | |
17 | g.745420G>T | CA397503339 | GEMIN4 | c.2623C>A (p.Leu875Met) c.2590C>A (p.Leu864Met) c.2635C>A (p.Leu879Met) | gnomAD v4 |
17 | g.745421C>A | CA397503340 | GEMIN4 | c.2622G>T (p.Gln874His) c.2589G>T (p.Gln863His) c.2634G>T (p.Gln878His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745421C= | CA2242474232 | GEMIN4 | c.2622G= (p.Gln874=) c.2589G= (p.Gln863=) c.2634G= (p.Gln878=) | |
17 | g.745421C>G | CA397503341 | GEMIN4 | c.2622G>C (p.Gln874His) c.2589G>C (p.Gln863His) c.2634G>C (p.Gln878His) | |
17 | g.745421C>T | CA497383887 | GEMIN4 | c.2622G>A (p.Gln874=) c.2589G>A (p.Gln863=) c.2634G>A (p.Gln878=) | dbSNP gnomAD v2 |
17 | g.745422T>A | CA397503342 | GEMIN4 | c.2621A>T (p.Gln874Leu) c.2588A>T (p.Gln863Leu) c.2633A>T (p.Gln878Leu) | |
17 | g.745422T>C | CA397503343 | GEMIN4 | c.2621A>G (p.Gln874Arg) c.2588A>G (p.Gln863Arg) c.2633A>G (p.Gln878Arg) | |
17 | g.745422T>G | CA397503344 | GEMIN4 | c.2621A>C (p.Gln874Pro) c.2588A>C (p.Gln863Pro) c.2633A>C (p.Gln878Pro) | |
17 | g.745423G>A | CA397503345 | GEMIN4 | c.2620C>T (p.Gln874Ter) c.2587C>T (p.Gln863Ter) c.2632C>T (p.Gln878Ter) | |
17 | g.745423G>C | CA397503346 | GEMIN4 | c.2620C>G (p.Gln874Glu) c.2587C>G (p.Gln863Glu) c.2632C>G (p.Gln878Glu) | gnomAD v4 |
17 | g.745423G>T | CA397503347 | GEMIN4 | c.2620C>A (p.Gln874Lys) c.2587C>A (p.Gln863Lys) c.2632C>A (p.Gln878Lys) | |
17 | g.745424G>A | CA286713644 | GEMIN4 | c.2619C>T (p.His873=) c.2586C>T (p.His862=) c.2631C>T (p.His877=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745424G>C | CA397503348 | GEMIN4 | c.2619C>G (p.His873Gln) c.2586C>G (p.His862Gln) c.2631C>G (p.His877Gln) | |
17 | g.745424G= | CA2242474233 | GEMIN4 | c.2619C= (p.His873=) c.2586C= (p.His862=) c.2631C= (p.His877=) | |
17 | g.745424G>T | CA8262385 | GEMIN4 | c.2619C>A (p.His873Gln) c.2586C>A (p.His862Gln) c.2631C>A (p.His877Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745425T>A | CA397503350 | GEMIN4 | c.2618A>T (p.His873Leu) c.2585A>T (p.His862Leu) c.2630A>T (p.His877Leu) | |
17 | g.745425T>C | CA8262387 | GEMIN4 | c.2618A>G (p.His873Arg) c.2585A>G (p.His862Arg) c.2630A>G (p.His877Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745425T>G | CA397503349 | GEMIN4 | c.2618A>C (p.His873Pro) c.2585A>C (p.His862Pro) c.2630A>C (p.His877Pro) | dbSNP |
17 | g.745425T= | CA2242474234 | GEMIN4 | c.2618A= (p.His873=) c.2585A= (p.His862=) c.2630A= (p.His877=) | |
17 | g.745425dup | CA8262386 | GEMIN4 | c.2618dup (p.His873GlnfsTer18) c.2585dup (p.His862GlnfsTer18) c.2630dup (p.His877GlnfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745426G>A | CA397503351 | GEMIN4 | c.2617C>T (p.His873Tyr) c.2584C>T (p.His862Tyr) c.2629C>T (p.His877Tyr) | |
17 | g.745426G>C | CA397503352 | GEMIN4 | c.2617C>G (p.His873Asp) c.2584C>G (p.His862Asp) c.2629C>G (p.His877Asp) | |
17 | g.745426G>T | CA397503353 | GEMIN4 | c.2617C>A (p.His873Asn) c.2584C>A (p.His862Asn) c.2629C>A (p.His877Asn) | |
17 | g.745427A>C | CA497383899 | GEMIN4 | c.2616T>G (p.Leu872=) c.2583T>G (p.Leu861=) c.2628T>G (p.Leu876=) | |
17 | g.745427A>G | CA497383901 | GEMIN4 | c.2616T>C (p.Leu872=) c.2583T>C (p.Leu861=) c.2628T>C (p.Leu876=) | |
17 | g.745427A>T | CA497383902 | GEMIN4 | c.2616T>A (p.Leu872=) c.2583T>A (p.Leu861=) c.2628T>A (p.Leu876=) | |
17 | g.745428A>C | CA397503354 | GEMIN4 | c.2615T>G (p.Leu872Arg) c.2582T>G (p.Leu861Arg) c.2627T>G (p.Leu876Arg) | |
17 | g.745428A>G | CA397503355 | GEMIN4 | c.2615T>C (p.Leu872Pro) c.2582T>C (p.Leu861Pro) c.2627T>C (p.Leu876Pro) | |
17 | g.745428A>T | CA397503356 | GEMIN4 | c.2615T>A (p.Leu872His) c.2582T>A (p.Leu861His) c.2627T>A (p.Leu876His) | |
17 | g.745429G>A | CA397503357 | GEMIN4 | c.2614C>T (p.Leu872Phe) c.2581C>T (p.Leu861Phe) c.2626C>T (p.Leu876Phe) | dbSNP |
17 | g.745429G>C | CA397503358 | GEMIN4 | c.2614C>G (p.Leu872Val) c.2581C>G (p.Leu861Val) c.2626C>G (p.Leu876Val) | ClinVar |
17 | g.745429G= | CA2242474235 | GEMIN4 | c.2614C= (p.Leu872=) c.2581C= (p.Leu861=) c.2626C= (p.Leu876=) | |
17 | g.745429G>T | CA397503359 | GEMIN4 | c.2614C>A (p.Leu872Ile) c.2581C>A (p.Leu861Ile) c.2626C>A (p.Leu876Ile) | |
17 | g.745430G>A | CA497383910 | GEMIN4 | c.2613C>T (p.Arg871=) c.2580C>T (p.Arg860=) c.2625C>T (p.Arg875=) | |
17 | g.745430G>C | CA497383911 | GEMIN4 | c.2613C>G (p.Arg871=) c.2580C>G (p.Arg860=) c.2625C>G (p.Arg875=) | |
17 | g.745430G>T | CA497383912 | GEMIN4 | c.2613C>A (p.Arg871=) c.2580C>A (p.Arg860=) c.2625C>A (p.Arg875=) | |
17 | g.745431C>A | CA397503360 | GEMIN4 | c.2612G>T (p.Arg871Leu) c.2579G>T (p.Arg860Leu) c.2624G>T (p.Arg875Leu) | |
17 | g.745431C= | CA2242474236 | GEMIN4 | c.2612G= (p.Arg871=) c.2579G= (p.Arg860=) c.2624G= (p.Arg875=) | |
17 | g.745431C>G | CA397503361 | GEMIN4 | c.2612G>C (p.Arg871Pro) c.2579G>C (p.Arg860Pro) c.2624G>C (p.Arg875Pro) | gnomAD v4 |
17 | g.745431C>T | CA8262388 | GEMIN4 | c.2612G>A (p.Arg871His) c.2579G>A (p.Arg860His) c.2624G>A (p.Arg875His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745432G>A | CA8262389 | GEMIN4 | c.2611C>T (p.Arg871Cys) c.2578C>T (p.Arg860Cys) c.2623C>T (p.Arg875Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745432G>C | CA397503363 | GEMIN4 | c.2611C>G (p.Arg871Gly) c.2578C>G (p.Arg860Gly) c.2623C>G (p.Arg875Gly) | dbSNP |
17 | g.745432G= | CA2242474237 | GEMIN4 | c.2611C= (p.Arg871=) c.2578C= (p.Arg860=) c.2623C= (p.Arg875=) | |
17 | g.745432G>T | CA397503362 | GEMIN4 | c.2611C>A (p.Arg871Ser) c.2578C>A (p.Arg860Ser) c.2623C>A (p.Arg875Ser) | gnomAD v4 |
17 | g.745433C>A | CA397503364 | GEMIN4 | c.2610G>T (p.Gln870His) c.2577G>T (p.Gln859His) c.2622G>T (p.Gln874His) | |
17 | g.745433C>G | CA397503365 | GEMIN4 | c.2610G>C (p.Gln870His) c.2577G>C (p.Gln859His) c.2622G>C (p.Gln874His) | |
17 | g.745433C>T | CA497383914 | GEMIN4 | c.2610G>A (p.Gln870=) c.2577G>A (p.Gln859=) c.2622G>A (p.Gln874=) | |
17 | g.745434T>A | CA397503366 | GEMIN4 | c.2609A>T (p.Gln870Leu) c.2576A>T (p.Gln859Leu) c.2621A>T (p.Gln874Leu) | |
17 | g.745434T>C | CA397503367 | GEMIN4 | c.2609A>G (p.Gln870Arg) c.2576A>G (p.Gln859Arg) c.2621A>G (p.Gln874Arg) | |
17 | g.745434T>G | CA397503368 | GEMIN4 | c.2609A>C (p.Gln870Pro) c.2576A>C (p.Gln859Pro) c.2621A>C (p.Gln874Pro) | |
17 | g.745435G>A | CA397503371 | GEMIN4 | c.2608C>T (p.Gln870Ter) c.2575C>T (p.Gln859Ter) c.2620C>T (p.Gln874Ter) | |
17 | g.745435G>C | CA397503370 | GEMIN4 | c.2608C>G (p.Gln870Glu) c.2575C>G (p.Gln859Glu) c.2620C>G (p.Gln874Glu) | |
17 | g.745435G>T | CA397503369 | GEMIN4 | c.2608C>A (p.Gln870Lys) c.2575C>A (p.Gln859Lys) c.2620C>A (p.Gln874Lys) | |
17 | g.745436C>A | CA397503372 | GEMIN4 | c.2607G>T (p.Trp869Cys) c.2574G>T (p.Trp858Cys) c.2619G>T (p.Trp873Cys) | gnomAD v4 |
17 | g.745436C= | CA2242474238 | GEMIN4 | c.2607G= (p.Trp869=) c.2574G= (p.Trp858=) c.2619G= (p.Trp873=) | |
17 | g.745436C>G | CA286713645 | GEMIN4 | c.2607G>C (p.Trp869Cys) c.2574G>C (p.Trp858Cys) c.2619G>C (p.Trp873Cys) | dbSNP gnomAD v4 |
17 | g.745436C>T | CA397503373 | GEMIN4 | c.2607G>A (p.Trp869Ter) c.2574G>A (p.Trp858Ter) c.2619G>A (p.Trp873Ter) | |
17 | g.745437C>A | CA397503374 | GEMIN4 | c.2606G>T (p.Trp869Leu) c.2573G>T (p.Trp858Leu) c.2618G>T (p.Trp873Leu) | |
17 | g.745437C= | CA2242474239 | GEMIN4 | c.2606G= (p.Trp869=) c.2573G= (p.Trp858=) c.2618G= (p.Trp873=) | |
17 | g.745437C>G | CA397503375 | GEMIN4 | c.2606G>C (p.Trp869Ser) c.2573G>C (p.Trp858Ser) c.2618G>C (p.Trp873Ser) | |
17 | g.745437C>T | CA397503376 | GEMIN4 | c.2606G>A (p.Trp869Ter) c.2573G>A (p.Trp858Ter) c.2618G>A (p.Trp873Ter) | dbSNP gnomAD v4 |
17 | g.745438A= | CA2242474240 | GEMIN4 | c.2605T= (p.Trp869=) c.2572T= (p.Trp858=) c.2617T= (p.Trp873=) | |
17 | g.745438A>C | CA397503377 | GEMIN4 | c.2605T>G (p.Trp869Gly) c.2572T>G (p.Trp858Gly) c.2617T>G (p.Trp873Gly) | gnomAD v4 |
17 | g.745438A>G | CA397503379 | GEMIN4 | c.2605T>C (p.Trp869Arg) c.2572T>C (p.Trp858Arg) c.2617T>C (p.Trp873Arg) | dbSNP gnomAD v4 |
17 | g.745438A>T | CA397503378 | GEMIN4 | c.2605T>A (p.Trp869Arg) c.2572T>A (p.Trp858Arg) c.2617T>A (p.Trp873Arg) | |
17 | g.745439C>A | CA397503380 | GEMIN4 | c.2604G>T (p.Glu868Asp) c.2571G>T (p.Glu857Asp) c.2616G>T (p.Glu872Asp) | dbSNP |
17 | g.745439C= | CA2242474241 | GEMIN4 | c.2604G= (p.Glu868=) c.2571G= (p.Glu857=) c.2616G= (p.Glu872=) | |
17 | g.745439C>G | CA397503381 | GEMIN4 | c.2604G>C (p.Glu868Asp) c.2571G>C (p.Glu857Asp) c.2616G>C (p.Glu872Asp) | |
17 | g.745439C>T | CA497383919 | GEMIN4 | c.2604G>A (p.Glu868=) c.2571G>A (p.Glu857=) c.2616G>A (p.Glu872=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745440T>A | CA397503382 | GEMIN4 | c.2603A>T (p.Glu868Val) c.2570A>T (p.Glu857Val) c.2615A>T (p.Glu872Val) | |
17 | g.745440T>C | CA397503383 | GEMIN4 | c.2603A>G (p.Glu868Gly) c.2570A>G (p.Glu857Gly) c.2615A>G (p.Glu872Gly) | |
17 | g.745440T>G | CA397503384 | GEMIN4 | c.2603A>C (p.Glu868Ala) c.2570A>C (p.Glu857Ala) c.2615A>C (p.Glu872Ala) | |
17 | g.745441C>A | CA397503385 | GEMIN4 | c.2602G>T (p.Glu868Ter) c.2569G>T (p.Glu857Ter) c.2614G>T (p.Glu872Ter) | |
17 | g.745441C>G | CA397503386 | GEMIN4 | c.2602G>C (p.Glu868Gln) c.2569G>C (p.Glu857Gln) c.2614G>C (p.Glu872Gln) | |
17 | g.745441C>T | CA397503387 | GEMIN4 | c.2602G>A (p.Glu868Lys) c.2569G>A (p.Glu857Lys) c.2614G>A (p.Glu872Lys) | gnomAD v4 |