| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115587044G>A | CA4851614 | TRPS1 | c.2657C>T (p.Ser886Leu) c.2618C>T (p.Ser873Leu) c.2030C>T (p.Ser677Leu) c.1880C>T (p.Ser627Leu) c.2630C>T (p.Ser877Leu) c.2636C>T (p.Ser879Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115587044G>C | CA372064667 | TRPS1 | c.2657C>G (p.Ser886Trp) c.2618C>G (p.Ser873Trp) c.2030C>G (p.Ser677Trp) c.1880C>G (p.Ser627Trp) c.2630C>G (p.Ser877Trp) c.2636C>G (p.Ser879Trp) | |
| 8 | g.115587044G= | CA1812945307 | TRPS1 | c.2657C= (p.Ser886=) c.2618C= (p.Ser873=) c.2030C= (p.Ser677=) c.1880C= (p.Ser627=) c.2630C= (p.Ser877=) c.2636C= (p.Ser879=) | |
| 8 | g.115587044G>T | CA372064668 | TRPS1 | c.2657C>A (p.Ser886Ter) c.2618C>A (p.Ser873Ter) c.2030C>A (p.Ser677Ter) c.1880C>A (p.Ser627Ter) c.2630C>A (p.Ser877Ter) c.2636C>A (p.Ser879Ter) | ClinVar dbSNP |
| 8 | g.115587045A>C | CA372064669 | TRPS1 | c.2656T>G (p.Ser886Ala) c.2617T>G (p.Ser873Ala) c.2029T>G (p.Ser677Ala) c.1879T>G (p.Ser627Ala) c.2629T>G (p.Ser877Ala) c.2635T>G (p.Ser879Ala) | |
| 8 | g.115587045A>G | CA372064670 | TRPS1 | c.2656T>C (p.Ser886Pro) c.2617T>C (p.Ser873Pro) c.2029T>C (p.Ser677Pro) c.1879T>C (p.Ser627Pro) c.2629T>C (p.Ser877Pro) c.2635T>C (p.Ser879Pro) | |
| 8 | g.115587045A>T | CA372064671 | TRPS1 | c.2656T>A (p.Ser886Thr) c.2617T>A (p.Ser873Thr) c.2029T>A (p.Ser677Thr) c.1879T>A (p.Ser627Thr) c.2629T>A (p.Ser877Thr) c.2635T>A (p.Ser879Thr) | |
| 8 | g.115587046T>A | CA462658550 | TRPS1 | c.2655A>T (p.Ala885=) c.2616A>T (p.Ala872=) c.2028A>T (p.Ala676=) c.1878A>T (p.Ala626=) c.2628A>T (p.Ala876=) c.2634A>T (p.Ala878=) | |
| 8 | g.115587046T>C | CA462658551 | TRPS1 | c.2655A>G (p.Ala885=) c.2616A>G (p.Ala872=) c.2028A>G (p.Ala676=) c.1878A>G (p.Ala626=) c.2628A>G (p.Ala876=) c.2634A>G (p.Ala878=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115587046T>G | CA462658553 | TRPS1 | c.2655A>C (p.Ala885=) c.2616A>C (p.Ala872=) c.2028A>C (p.Ala676=) c.1878A>C (p.Ala626=) c.2628A>C (p.Ala876=) c.2634A>C (p.Ala878=) | gnomAD v4 |
| 8 | g.115587046T= | CA1812945309 | TRPS1 | c.2655A= (p.Ala885=) c.2616A= (p.Ala872=) c.2028A= (p.Ala676=) c.1878A= (p.Ala626=) c.2628A= (p.Ala876=) c.2634A= (p.Ala878=) | |
| 8 | g.115587047G>A | CA4851615 | TRPS1 | c.2654C>T (p.Ala885Val) c.2615C>T (p.Ala872Val) c.2027C>T (p.Ala676Val) c.1877C>T (p.Ala626Val) c.2627C>T (p.Ala876Val) c.2633C>T (p.Ala878Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115587047G>C | CA372064672 | TRPS1 | c.2654C>G (p.Ala885Gly) c.2615C>G (p.Ala872Gly) c.2027C>G (p.Ala676Gly) c.1877C>G (p.Ala626Gly) c.2627C>G (p.Ala876Gly) c.2633C>G (p.Ala878Gly) | |
| 8 | g.115587047G= | CA1812945315 | TRPS1 | c.2654C= (p.Ala885=) c.2615C= (p.Ala872=) c.2027C= (p.Ala676=) c.1877C= (p.Ala626=) c.2627C= (p.Ala876=) c.2633C= (p.Ala878=) | |
| 8 | g.115587047G>T | CA372064673 | TRPS1 | c.2654C>A (p.Ala885Glu) c.2615C>A (p.Ala872Glu) c.2027C>A (p.Ala676Glu) c.1877C>A (p.Ala626Glu) c.2627C>A (p.Ala876Glu) c.2633C>A (p.Ala878Glu) | |
| 8 | g.115587048C>A | CA372064674 | TRPS1 | c.2653G>T (p.Ala885Ser) c.2614G>T (p.Ala872Ser) c.2026G>T (p.Ala676Ser) c.1876G>T (p.Ala626Ser) c.2626G>T (p.Ala876Ser) c.2632G>T (p.Ala878Ser) | |
| 8 | g.115587048C= | CA1812945323 | TRPS1 | c.2653G= (p.Ala885=) c.2614G= (p.Ala872=) c.2026G= (p.Ala676=) c.1876G= (p.Ala626=) c.2626G= (p.Ala876=) c.2632G= (p.Ala878=) | |
| 8 | g.115587048C>G | CA372064675 | TRPS1 | c.2653G>C (p.Ala885Pro) c.2614G>C (p.Ala872Pro) c.2026G>C (p.Ala676Pro) c.1876G>C (p.Ala626Pro) c.2626G>C (p.Ala876Pro) c.2632G>C (p.Ala878Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115587048C>T | CA372064676 | TRPS1 | c.2653G>A (p.Ala885Thr) c.2614G>A (p.Ala872Thr) c.2026G>A (p.Ala676Thr) c.1876G>A (p.Ala626Thr) c.2626G>A (p.Ala876Thr) c.2632G>A (p.Ala878Thr) | dbSNP gnomAD v2 |
| 8 | g.115587049A= | CA1812945328 | TRPS1 | c.2652T= (p.Pro884=) c.2613T= (p.Pro871=) c.2025T= (p.Pro675=) c.1875T= (p.Pro625=) c.2625T= (p.Pro875=) c.2631T= (p.Pro877=) | |
| 8 | g.115587049A>C | CA462658556 | TRPS1 | c.2652T>G (p.Pro884=) c.2613T>G (p.Pro871=) c.2025T>G (p.Pro675=) c.1875T>G (p.Pro625=) c.2625T>G (p.Pro875=) c.2631T>G (p.Pro877=) | |
| 8 | g.115587049A>G | CA462658557 | TRPS1 | c.2652T>C (p.Pro884=) c.2613T>C (p.Pro871=) c.2025T>C (p.Pro675=) c.1875T>C (p.Pro625=) c.2625T>C (p.Pro875=) c.2631T>C (p.Pro877=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115587049A>T | CA462658559 | TRPS1 | c.2652T>A (p.Pro884=) c.2613T>A (p.Pro871=) c.2025T>A (p.Pro675=) c.1875T>A (p.Pro625=) c.2625T>A (p.Pro875=) c.2631T>A (p.Pro877=) | dbSNP |
| 8 | g.115587050G>A | CA372064679 | TRPS1 | c.2651C>T (p.Pro884Leu) c.2612C>T (p.Pro871Leu) c.2024C>T (p.Pro675Leu) c.1874C>T (p.Pro625Leu) c.2624C>T (p.Pro875Leu) c.2630C>T (p.Pro877Leu) | dbSNP |
| 8 | g.115587050G>C | CA372064678 | TRPS1 | c.2651C>G (p.Pro884Arg) c.2612C>G (p.Pro871Arg) c.2024C>G (p.Pro675Arg) c.1874C>G (p.Pro625Arg) c.2624C>G (p.Pro875Arg) c.2630C>G (p.Pro877Arg) | gnomAD v4 |
| 8 | g.115587050G= | CA1812945333 | TRPS1 | c.2651C= (p.Pro884=) c.2612C= (p.Pro871=) c.2024C= (p.Pro675=) c.1874C= (p.Pro625=) c.2624C= (p.Pro875=) c.2630C= (p.Pro877=) | |
| 8 | g.115587050G>T | CA372064677 | TRPS1 | c.2651C>A (p.Pro884His) c.2612C>A (p.Pro871His) c.2024C>A (p.Pro675His) c.1874C>A (p.Pro625His) c.2624C>A (p.Pro875His) c.2630C>A (p.Pro877His) | |
| 8 | g.115587051G>A | CA372064680 | TRPS1 | c.2650C>T (p.Pro884Ser) c.2611C>T (p.Pro871Ser) c.2023C>T (p.Pro675Ser) c.1873C>T (p.Pro625Ser) c.2623C>T (p.Pro875Ser) c.2629C>T (p.Pro877Ser) | ClinVar dbSNP |
| 8 | g.115587051G>C | CA372064681 | TRPS1 | c.2650C>G (p.Pro884Ala) c.2611C>G (p.Pro871Ala) c.2023C>G (p.Pro675Ala) c.1873C>G (p.Pro625Ala) c.2623C>G (p.Pro875Ala) c.2629C>G (p.Pro877Ala) | |
| 8 | g.115587051G>T | CA372064682 | TRPS1 | c.2650C>A (p.Pro884Thr) c.2611C>A (p.Pro871Thr) c.2023C>A (p.Pro675Thr) c.1873C>A (p.Pro625Thr) c.2623C>A (p.Pro875Thr) c.2629C>A (p.Pro877Thr) | |
| 8 | g.115587052A>C | CA372064683 | TRPS1 | c.2649T>G (p.Tyr883Ter) c.2610T>G (p.Tyr870Ter) c.2022T>G (p.Tyr674Ter) c.1872T>G (p.Tyr624Ter) c.2622T>G (p.Tyr874Ter) c.2628T>G (p.Tyr876Ter) | |
| 8 | g.115587052A>G | CA462658562 | TRPS1 | c.2649T>C (p.Tyr883=) c.2610T>C (p.Tyr870=) c.2022T>C (p.Tyr674=) c.1872T>C (p.Tyr624=) c.2622T>C (p.Tyr874=) c.2628T>C (p.Tyr876=) | gnomAD v4 |
| 8 | g.115587052A>T | CA372064684 | TRPS1 | c.2649T>A (p.Tyr883Ter) c.2610T>A (p.Tyr870Ter) c.2022T>A (p.Tyr674Ter) c.1872T>A (p.Tyr624Ter) c.2622T>A (p.Tyr874Ter) c.2628T>A (p.Tyr876Ter) | |
| 8 | g.115587053T>A | CA372064685 | TRPS1 | c.2648A>T (p.Tyr883Phe) c.2609A>T (p.Tyr870Phe) c.2021A>T (p.Tyr674Phe) c.1871A>T (p.Tyr624Phe) c.2621A>T (p.Tyr874Phe) c.2627A>T (p.Tyr876Phe) | |
| 8 | g.115587053T>C | CA372064686 | TRPS1 | c.2648A>G (p.Tyr883Cys) c.2609A>G (p.Tyr870Cys) c.2021A>G (p.Tyr674Cys) c.1871A>G (p.Tyr624Cys) c.2621A>G (p.Tyr874Cys) c.2627A>G (p.Tyr876Cys) | gnomAD v4 |
| 8 | g.115587053T>G | CA372064687 | TRPS1 | c.2648A>C (p.Tyr883Ser) c.2609A>C (p.Tyr870Ser) c.2021A>C (p.Tyr674Ser) c.1871A>C (p.Tyr624Ser) c.2621A>C (p.Tyr874Ser) c.2627A>C (p.Tyr876Ser) | |
| 8 | g.115587054A= | CA1812945336 | TRPS1 | c.2647T= (p.Tyr883=) c.2608T= (p.Tyr870=) c.2020T= (p.Tyr674=) c.1870T= (p.Tyr624=) c.2620T= (p.Tyr874=) c.2626T= (p.Tyr876=) | |
| 8 | g.115587054A>C | CA372064688 | TRPS1 | c.2647T>G (p.Tyr883Asp) c.2608T>G (p.Tyr870Asp) c.2020T>G (p.Tyr674Asp) c.1870T>G (p.Tyr624Asp) c.2620T>G (p.Tyr874Asp) c.2626T>G (p.Tyr876Asp) | |
| 8 | g.115587054A>G | CA372064689 | TRPS1 | c.2647T>C (p.Tyr883His) c.2608T>C (p.Tyr870His) c.2020T>C (p.Tyr674His) c.1870T>C (p.Tyr624His) c.2620T>C (p.Tyr874His) c.2626T>C (p.Tyr876His) | |
| 8 | g.115587054A>T | CA184607462 | TRPS1 | c.2647T>A (p.Tyr883Asn) c.2608T>A (p.Tyr870Asn) c.2020T>A (p.Tyr674Asn) c.1870T>A (p.Tyr624Asn) c.2620T>A (p.Tyr874Asn) c.2626T>A (p.Tyr876Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115587055C>A | CA372064690 | TRPS1 | c.2646G>T (p.Gln882His) c.2607G>T (p.Gln869His) c.2019G>T (p.Gln673His) c.1869G>T (p.Gln623His) c.2619G>T (p.Gln873His) c.2625G>T (p.Gln875His) | |
| 8 | g.115587055C>G | CA372064691 | TRPS1 | c.2646G>C (p.Gln882His) c.2607G>C (p.Gln869His) c.2019G>C (p.Gln673His) c.1869G>C (p.Gln623His) c.2619G>C (p.Gln873His) c.2625G>C (p.Gln875His) | |
| 8 | g.115587055C>T | CA462658564 | TRPS1 | c.2646G>A (p.Gln882=) c.2607G>A (p.Gln869=) c.2019G>A (p.Gln673=) c.1869G>A (p.Gln623=) c.2619G>A (p.Gln873=) c.2625G>A (p.Gln875=) | |
| 8 | g.115587056T>A | CA372064693 | TRPS1 | c.2645A>T (p.Gln882Leu) c.2606A>T (p.Gln869Leu) c.2018A>T (p.Gln673Leu) c.1868A>T (p.Gln623Leu) c.2618A>T (p.Gln873Leu) c.2624A>T (p.Gln875Leu) | |
| 8 | g.115587056T>C | CA4851616 | TRPS1 | c.2645A>G (p.Gln882Arg) c.2606A>G (p.Gln869Arg) c.2018A>G (p.Gln673Arg) c.1868A>G (p.Gln623Arg) c.2618A>G (p.Gln873Arg) c.2624A>G (p.Gln875Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115587056T>G | CA372064692 | TRPS1 | c.2645A>C (p.Gln882Pro) c.2606A>C (p.Gln869Pro) c.2018A>C (p.Gln673Pro) c.1868A>C (p.Gln623Pro) c.2618A>C (p.Gln873Pro) c.2624A>C (p.Gln875Pro) | |
| 8 | g.115587056T= | CA1812945341 | TRPS1 | c.2645A= (p.Gln882=) c.2606A= (p.Gln869=) c.2018A= (p.Gln673=) c.1868A= (p.Gln623=) c.2618A= (p.Gln873=) c.2624A= (p.Gln875=) | |
| 8 | g.115587057G>A | CA372064694 | TRPS1 | c.2644C>T (p.Gln882Ter) c.2605C>T (p.Gln869Ter) c.2017C>T (p.Gln673Ter) c.1867C>T (p.Gln623Ter) c.2617C>T (p.Gln873Ter) c.2623C>T (p.Gln875Ter) | |
| 8 | g.115587057G>C | CA372064696 | TRPS1 | c.2644C>G (p.Gln882Glu) c.2605C>G (p.Gln869Glu) c.2017C>G (p.Gln673Glu) c.1867C>G (p.Gln623Glu) c.2617C>G (p.Gln873Glu) c.2623C>G (p.Gln875Glu) | |
| 8 | g.115587057G>T | CA372064695 | TRPS1 | c.2644C>A (p.Gln882Lys) c.2605C>A (p.Gln869Lys) c.2017C>A (p.Gln673Lys) c.1867C>A (p.Gln623Lys) c.2617C>A (p.Gln873Lys) c.2623C>A (p.Gln875Lys) | gnomAD v4 |