| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31070789_31070790delinsAG | CA2293646671 | DSC2 | c.1757_1758delinsCT (p.Pro586=) c.2186_2187delinsCT (p.Pro729=) | |
| 18 | g.31070790G>A | CA402112469 | DSC2 | c.1757C>T (p.Pro586Leu) c.2186C>T (p.Pro729Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070790G>C | CA402112471 | DSC2 | c.1757C>G (p.Pro586Arg) c.2186C>G (p.Pro729Arg) | |
| 18 | g.31070790G= | CA2293646672 | DSC2 | c.1757C= (p.Pro586=) c.2186C= (p.Pro729=) | |
| 18 | g.31070790G>T | CA402112470 | DSC2 | c.1757C>A (p.Pro586His) c.2186C>A (p.Pro729His) | |
| 18 | g.31070791del | CA915952452 | DSC2 | c.1757del (p.Pro586LeufsTer4) c.2186del (p.Pro729LeufsTer4) | ClinVar dbSNP |
| 18 | g.31070791G>A | CA402112472 | DSC2 | c.1756C>T (p.Pro586Ser) c.2185C>T (p.Pro729Ser) | gnomAD v4 |
| 18 | g.31070791G>C | CA402112474 | DSC2 | c.1756C>G (p.Pro586Ala) c.2185C>G (p.Pro729Ala) | |
| 18 | g.31070791G= | CA2293646673 | DSC2 | c.1756C= (p.Pro586=) c.2185C= (p.Pro729=) | |
| 18 | g.31070791G>T | CA402112473 | DSC2 | c.1756C>A (p.Pro586Thr) c.2185C>A (p.Pro729Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070792A= | CA2293646674 | DSC2 | c.1755T= (p.Ile585=) c.2184T= (p.Ile728=) | |
| 18 | g.31070792A>C | CA402112475 | DSC2 | c.1755T>G (p.Ile585Met) c.2184T>G (p.Ile728Met) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070792A>G | CA503384740 | DSC2 | c.1755T>C (p.Ile585=) c.2184T>C (p.Ile728=) | |
| 18 | g.31070792A>T | CA503384741 | DSC2 | c.1755T>A (p.Ile585=) c.2184T>A (p.Ile728=) | |
| 18 | g.31070793A= | CA2293646675 | DSC2 | c.1754T= (p.Ile585=) c.2183T= (p.Ile728=) | |
| 18 | g.31070793A>C | CA402112477 | DSC2 | c.1754T>G (p.Ile585Ser) c.2183T>G (p.Ile728Ser) | |
| 18 | g.31070793A>G | CA402112476 | DSC2 | c.1754T>C (p.Ile585Thr) c.2183T>C (p.Ile728Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070793A>T | CA402112478 | DSC2 | c.1754T>A (p.Ile585Asn) c.2183T>A (p.Ile728Asn) | COSMIC COSMIC |
| 18 | g.31070794T>A | CA402112479 | DSC2 | c.1753A>T (p.Ile585Phe) c.2182A>T (p.Ile728Phe) | gnomAD v4 |
| 18 | g.31070794T>C | CA402112481 | DSC2 | c.1753A>G (p.Ile585Val) c.2182A>G (p.Ile728Val) | |
| 18 | g.31070794T>G | CA402112480 | DSC2 | c.1753A>C (p.Ile585Leu) c.2182A>C (p.Ile728Leu) | |
| 18 | g.31070795T>A | CA503384742 | DSC2 | c.1752A>T (p.Val584=) c.2181A>T (p.Val727=) | |
| 18 | g.31070795T>C | CA503384743 | DSC2 | c.1752A>G (p.Val584=) c.2181A>G (p.Val727=) | gnomAD v4 |
| 18 | g.31070795T>G | CA503384744 | DSC2 | c.1752A>C (p.Val584=) c.2181A>C (p.Val727=) | |
| 18 | g.31070796A>C | CA402112482 | DSC2 | c.1751T>G (p.Val584Gly) c.2180T>G (p.Val727Gly) | |
| 18 | g.31070796A>G | CA402112483 | DSC2 | c.1751T>C (p.Val584Ala) c.2180T>C (p.Val727Ala) | |
| 18 | g.31070796A>T | CA402112484 | DSC2 | c.1751T>A (p.Val584Glu) c.2180T>A (p.Val727Glu) | |
| 18 | g.31070797C>A | CA402112485 | DSC2 | c.1750G>T (p.Val584Leu) c.2179G>T (p.Val727Leu) | |
| 18 | g.31070797C>G | CA402112486 | DSC2 | c.1750G>C (p.Val584Leu) c.2179G>C (p.Val727Leu) | |
| 18 | g.31070797C>T | CA402112487 | DSC2 | c.1750G>A (p.Val584Ile) c.2179G>A (p.Val727Ile) | |
| 18 | g.31070798T>A | CA402112488 | DSC2 | c.1749A>T (p.Lys583Asn) c.2178A>T (p.Lys726Asn) | |
| 18 | g.31070798T>C | CA035273 | DSC2 | c.1749A>G (p.Lys583=) c.2178A>G (p.Lys726=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070798T>G | CA402112489 | DSC2 | c.1749A>C (p.Lys583Asn) c.2178A>C (p.Lys726Asn) | |
| 18 | g.31070798T= | CA2293646676 | DSC2 | c.1749A= (p.Lys583=) c.2178A= (p.Lys726=) | |
| 18 | g.31070799T>A | CA402112492 | DSC2 | c.1748A>T (p.Lys583Ile) c.2177A>T (p.Lys726Ile) | |
| 18 | g.31070799T>C | CA402112491 | DSC2 | c.1748A>G (p.Lys583Arg) c.2177A>G (p.Lys726Arg) | |
| 18 | g.31070799T>G | CA402112490 | DSC2 | c.1748A>C (p.Lys583Thr) c.2177A>C (p.Lys726Thr) | |
| 18 | g.31070800T>A | CA402112493 | DSC2 | c.1747A>T (p.Lys583Ter) c.2176A>T (p.Lys726Ter) | |
| 18 | g.31070800T>C | CA402112494 | DSC2 | c.1747A>G (p.Lys583Glu) c.2176A>G (p.Lys726Glu) | |
| 18 | g.31070800T>G | CA402112495 | DSC2 | c.1747A>C (p.Lys583Gln) c.2176A>C (p.Lys726Gln) | dbSNP |
| 18 | g.31070800T= | CA2293646677 | DSC2 | c.1747A= (p.Lys583=) c.2176A= (p.Lys726=) | |
| 18 | g.31070801T>A | CA503384745 | DSC2 | c.1746A>T (p.Pro582=) c.2175A>T (p.Pro725=) | |
| 18 | g.31070801T>C | CA503384746 | DSC2 | c.1746A>G (p.Pro582=) c.2175A>G (p.Pro725=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070801T>G | CA297687769 | DSC2 | c.1746A>C (p.Pro582=) c.2175A>C (p.Pro725=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070801T= | CA2293646678 | DSC2 | c.1746A= (p.Pro582=) c.2175A= (p.Pro725=) | |
| 18 | g.31070802G>A | CA10577046 | DSC2 | c.1745C>T (p.Pro582Leu) c.2174C>T (p.Pro725Leu) | ClinVar dbSNP |
| 18 | g.31070802G>C | CA402112496 | DSC2 | c.1745C>G (p.Pro582Arg) c.2174C>G (p.Pro725Arg) | |
| 18 | g.31070802G= | CA2293646679 | DSC2 | c.1745C= (p.Pro582=) c.2174C= (p.Pro725=) | |
| 18 | g.31070802G>T | CA402112497 | DSC2 | c.1745C>A (p.Pro582Gln) c.2174C>A (p.Pro725Gln) | |
| 18 | g.31070803G>A | CA402112498 | DSC2 | c.1744C>T (p.Pro582Ser) c.2173C>T (p.Pro725Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070803G>C | CA402112499 | DSC2 | c.1744C>G (p.Pro582Ala) c.2173C>G (p.Pro725Ala) | gnomAD v4 |
| 18 | g.31070803G= | CA2293646680 | DSC2 | c.1744C= (p.Pro582=) c.2173C= (p.Pro725=) | |
| 18 | g.31070803G>T | CA402112500 | DSC2 | c.1744C>A (p.Pro582Thr) c.2173C>A (p.Pro725Thr) | gnomAD v4 |
| 18 | g.31070804T>A | CA402112501 | DSC2 | c.1743A>T (p.Gln581His) c.2172A>T (p.Gln724His) | |
| 18 | g.31070804T>C | CA503384747 | DSC2 | c.1743A>G (p.Gln581=) c.2172A>G (p.Gln724=) | |
| 18 | g.31070804T>G | CA402112502 | DSC2 | c.1743A>C (p.Gln581His) c.2172A>C (p.Gln724His) | |
| 18 | g.31070805T>A | CA402112504 | DSC2 | c.1742A>T (p.Gln581Leu) c.2171A>T (p.Gln724Leu) | |
| 18 | g.31070805T>C | CA402112505 | DSC2 | c.1742A>G (p.Gln581Arg) c.2171A>G (p.Gln724Arg) | |
| 18 | g.31070805T>G | CA402112503 | DSC2 | c.1742A>C (p.Gln581Pro) c.2171A>C (p.Gln724Pro) | |
| 18 | g.31070806G>A | CA402112506 | DSC2 | c.1741C>T (p.Gln581Ter) c.2170C>T (p.Gln724Ter) | |
| 18 | g.31070806G>C | CA402112507 | DSC2 | c.1741C>G (p.Gln581Glu) c.2170C>G (p.Gln724Glu) | |
| 18 | g.31070806G>T | CA402112508 | DSC2 | c.1741C>A (p.Gln581Lys) c.2170C>A (p.Gln724Lys) | |
| 18 | g.31070807T>A | CA402112509 | DSC2 | c.1740A>T (p.Lys580Asn) c.2169A>T (p.Lys723Asn) | |
| 18 | g.31070807T>C | CA503384748 | DSC2 | c.1740A>G (p.Lys580=) c.2169A>G (p.Lys723=) | gnomAD v4 |
| 18 | g.31070807T>G | CA402112510 | DSC2 | c.1740A>C (p.Lys580Asn) c.2169A>C (p.Lys723Asn) | |
| 18 | g.31070808T>A | CA402112511 | DSC2 | c.1739A>T (p.Lys580Ile) c.2168A>T (p.Lys723Ile) | |
| 18 | g.31070808T>C | CA402112512 | DSC2 | c.1739A>G (p.Lys580Arg) c.2168A>G (p.Lys723Arg) | |
| 18 | g.31070808T>G | CA402112513 | DSC2 | c.1739A>C (p.Lys580Thr) c.2168A>C (p.Lys723Thr) | |
| 18 | g.31070809T>A | CA402112514 | DSC2 | c.1738A>T (p.Lys580Ter) c.2167A>T (p.Lys723Ter) | COSMIC COSMIC |
| 18 | g.31070809T>C | CA402112515 | DSC2 | c.1738A>G (p.Lys580Glu) c.2167A>G (p.Lys723Glu) | gnomAD v4 |
| 18 | g.31070809T>G | CA402112516 | DSC2 | c.1738A>C (p.Lys580Gln) c.2167A>C (p.Lys723Gln) | |
| 18 | g.31070810A>C | CA503384749 | DSC2 | c.1737T>G (p.Ser579=) c.2166T>G (p.Ser722=) | |
| 18 | g.31070810A>G | CA503384750 | DSC2 | c.1737T>C (p.Ser579=) c.2166T>C (p.Ser722=) | |
| 18 | g.31070810A>T | CA503384751 | DSC2 | c.1737T>A (p.Ser579=) c.2166T>A (p.Ser722=) | |
| 18 | g.31070811G>A | CA402112519 | DSC2 | c.1736C>T (p.Ser579Phe) c.2165C>T (p.Ser722Phe) | |
| 18 | g.31070811G>C | CA402112518 | DSC2 | c.1736C>G (p.Ser579Cys) c.2165C>G (p.Ser722Cys) | |
| 18 | g.31070811G>T | CA402112517 | DSC2 | c.1736C>A (p.Ser579Tyr) c.2165C>A (p.Ser722Tyr) | |
| 18 | g.31070812A>C | CA402112520 | DSC2 | c.1735T>G (p.Ser579Ala) c.2164T>G (p.Ser722Ala) | |
| 18 | g.31070812A>G | CA402112521 | DSC2 | c.1735T>C (p.Ser579Pro) c.2164T>C (p.Ser722Pro) | ClinVar |
| 18 | g.31070812A>T | CA402112522 | DSC2 | c.1735T>A (p.Ser579Thr) c.2164T>A (p.Ser722Thr) | |
| 18 | g.31070813C>A | CA503384752 | DSC2 | c.1734G>T (p.Thr578=) c.2163G>T (p.Thr721=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070813C= | CA2293646681 | DSC2 | c.1734G= (p.Thr578=) c.2163G= (p.Thr721=) | |
| 18 | g.31070813C>G | CA503384753 | DSC2 | c.1734G>C (p.Thr578=) c.2163G>C (p.Thr721=) | |
| 18 | g.31070813C>T | CA035221 | DSC2 | c.1734G>A (p.Thr578=) c.2163G>A (p.Thr721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070813_31070814delinsCG | CA2293646682 | DSC2 | c.1733_1734delinsCG (p.Thr578=) c.2162_2163delinsCG (p.Thr721=) | |
| 18 | g.31070814del | CA913189077 | DSC2 | c.1733del (p.Thr578SerfsTer7) c.2162del (p.Thr721SerfsTer7) | ClinVar dbSNP |
| 18 | g.31070814G>A | CA035202 | DSC2 | c.1733C>T (p.Thr578Met) c.2162C>T (p.Thr721Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.31070814G>C | CA402112523 | DSC2 | c.1733C>G (p.Thr578Arg) c.2162C>G (p.Thr721Arg) | |
| 18 | g.31070814G= | CA2293646683 | DSC2 | c.1733C= (p.Thr578=) c.2162C= (p.Thr721=) | |
| 18 | g.31070814G>T | CA402112524 | DSC2 | c.1733C>A (p.Thr578Lys) c.2162C>A (p.Thr721Lys) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070815T>A | CA402112525 | DSC2 | c.1732A>T (p.Thr578Ser) c.2161A>T (p.Thr721Ser) | |
| 18 | g.31070815T>C | CA402112526 | DSC2 | c.1732A>G (p.Thr578Ala) c.2161A>G (p.Thr721Ala) | |
| 18 | g.31070815T>G | CA402112527 | DSC2 | c.1732A>C (p.Thr578Pro) c.2161A>C (p.Thr721Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070815T= | CA2293646684 | DSC2 | c.1732A= (p.Thr578=) c.2161A= (p.Thr721=) | |
| 18 | g.31070816C>A | CA503384754 | DSC2 | c.1731G>T (p.Gly577=) c.2160G>T (p.Gly720=) | gnomAD v4 |
| 18 | g.31070816C>G | CA503384755 | DSC2 | c.1731G>C (p.Gly577=) c.2160G>C (p.Gly720=) | ClinVar dbSNP |
| 18 | g.31070816C>T | CA503384756 | DSC2 | c.1731G>A (p.Gly577=) c.2160G>A (p.Gly720=) | COSMIC COSMIC |
| 18 | g.31070817C>A | CA402112528 | DSC2 | c.1730G>T (p.Gly577Val) c.2159G>T (p.Gly720Val) | |
| 18 | g.31070817C>G | CA402112529 | DSC2 | c.1730G>C (p.Gly577Ala) c.2159G>C (p.Gly720Ala) | |
| 18 | g.31070817C>T | CA402112530 | DSC2 | c.1730G>A (p.Gly577Glu) c.2159G>A (p.Gly720Glu) | gnomAD v4 |
| 18 | g.31070818C>A | CA402112532 | DSC2 | c.1729G>T (p.Gly577Trp) c.2158G>T (p.Gly720Trp) | |
| 18 | g.31070818C= | CA2293646685 | DSC2 | c.1729G= (p.Gly577=) c.2158G= (p.Gly720=) | |
| 18 | g.31070818C>G | CA402112533 | DSC2 | c.1729G>C (p.Gly577Arg) c.2158G>C (p.Gly720Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070818C>T | CA402112531 | DSC2 | c.1729G>A (p.Gly577Arg) c.2158G>A (p.Gly720Arg) | dbSNP |
| 18 | g.31070819A= | CA2293646686 | DSC2 | c.1728T= (p.Ser576=) c.2157T= (p.Ser719=) | |
| 18 | g.31070819A>C | CA503384757 | DSC2 | c.1728T>G (p.Ser576=) c.2157T>G (p.Ser719=) | |
| 18 | g.31070819A>G | CA16607902 | DSC2 | c.1728T>C (p.Ser576=) c.2157T>C (p.Ser719=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070819A>T | CA503384758 | DSC2 | c.1728T>A (p.Ser576=) c.2157T>A (p.Ser719=) | |
| 18 | g.31070820G>A | CA402112536 | DSC2 | c.1727C>T (p.Ser576Phe) c.2156C>T (p.Ser719Phe) | gnomAD v4 |
| 18 | g.31070820G>C | CA402112534 | DSC2 | c.1727C>G (p.Ser576Cys) c.2156C>G (p.Ser719Cys) | |
| 18 | g.31070820G>T | CA402112535 | DSC2 | c.1727C>A (p.Ser576Tyr) c.2156C>A (p.Ser719Tyr) | |
| 18 | g.31070821A>C | CA402112537 | DSC2 | c.1726T>G (p.Ser576Ala) c.2155T>G (p.Ser719Ala) | |
| 18 | g.31070821A>G | CA402112538 | DSC2 | c.1726T>C (p.Ser576Pro) c.2155T>C (p.Ser719Pro) | |
| 18 | g.31070821A>T | CA402112539 | DSC2 | c.1726T>A (p.Ser576Thr) c.2155T>A (p.Ser719Thr) | |
| 18 | g.31070822A>C | CA503384761 | DSC2 | c.1725T>G (p.Ala575=) c.2154T>G (p.Ala718=) | |
| 18 | g.31070822A>G | CA503384759 | DSC2 | c.1725T>C (p.Ala575=) c.2154T>C (p.Ala718=) | |
| 18 | g.31070822A>T | CA503384760 | DSC2 | c.1725T>A (p.Ala575=) c.2154T>A (p.Ala718=) | |
| 18 | g.31070823G>A | CA402112540 | DSC2 | c.1724C>T (p.Ala575Val) c.2153C>T (p.Ala718Val) | |
| 18 | g.31070823G>C | CA402112541 | DSC2 | c.1724C>G (p.Ala575Gly) c.2153C>G (p.Ala718Gly) | |
| 18 | g.31070823G>T | CA402112542 | DSC2 | c.1724C>A (p.Ala575Asp) c.2153C>A (p.Ala718Asp) | |
| 18 | g.31070823_31070824delinsGC | CA2293646687 | DSC2 | c.1723_1724delinsGC (p.Ala575=) c.2152_2153delinsGC (p.Ala718=) | |
| 18 | g.31070824C>A | CA035181 | DSC2 | c.1723G>T (p.Ala575Ser) c.2152G>T (p.Ala718Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070824C= | CA2293646688 | DSC2 | c.1723G= (p.Ala575=) c.2152G= (p.Ala718=) | |
| 18 | g.31070824C>G | CA402112543 | DSC2 | c.1723G>C (p.Ala575Pro) c.2152G>C (p.Ala718Pro) | |
| 18 | g.31070824C>T | CA402112544 | DSC2 | c.1723G>A (p.Ala575Thr) c.2152G>A (p.Ala718Thr) | dbSNP |
| 18 | g.31070827del | CA035169 | DSC2 | c.1723del (p.Ala575LeufsTer10) c.2152del (p.Ala718LeufsTer10) | ClinVar dbSNP ExAC gnomAD v2 |
| 18 | g.31070825C>A | CA503384762 | DSC2 | c.1722G>T (p.Gly574=) c.2151G>T (p.Gly717=) | |
| 18 | g.31070825C= | CA2293646689 | DSC2 | c.1722G= (p.Gly574=) c.2151G= (p.Gly717=) | |
| 18 | g.31070825C>G | CA035152 | DSC2 | c.1722G>C (p.Gly574=) c.2151G>C (p.Gly717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070825C>T | CA503384763 | DSC2 | c.1722G>A (p.Gly574=) c.2151G>A (p.Gly717=) | |
| 18 | g.31070826C>A | CA402112546 | DSC2 | c.1721G>T (p.Gly574Val) c.2150G>T (p.Gly717Val) | |
| 18 | g.31070826C= | CA2293646690 | DSC2 | c.1721G= (p.Gly574=) c.2150G= (p.Gly717=) | |
| 18 | g.31070826C>G | CA402112545 | DSC2 | c.1721G>C (p.Gly574Ala) c.2150G>C (p.Gly717Ala) | COSMIC COSMIC |
| 18 | g.31070826C>T | CA035137 | DSC2 | c.1721G>A (p.Gly574Glu) c.2150G>A (p.Gly717Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070827C>A | CA402112547 | DSC2 | c.1720G>T (p.Gly574Trp) c.2149G>T (p.Gly717Trp) | |
| 18 | g.31070827C= | CA2293646691 | DSC2 | c.1720G= (p.Gly574=) c.2149G= (p.Gly717=) | |
| 18 | g.31070827C>G | CA402112548 | DSC2 | c.1720G>C (p.Gly574Arg) c.2149G>C (p.Gly717Arg) | |
| 18 | g.31070827C>T | CA297687842 | DSC2 | c.1720G>A (p.Gly574Arg) c.2149G>A (p.Gly717Arg) | dbSNP gnomAD v4 |
| 18 | g.31070828A>C | CA402112549 | DSC2 | c.1719T>G (p.Cys573Trp) c.2148T>G (p.Cys716Trp) | |
| 18 | g.31070828A>G | CA503384764 | DSC2 | c.1719T>C (p.Cys573=) c.2148T>C (p.Cys716=) | |
| 18 | g.31070828A>T | CA402112550 | DSC2 | c.1719T>A (p.Cys573Ter) c.2148T>A (p.Cys716Ter) | |
| 18 | g.31070829C>A | CA035114 | DSC2 | c.1718G>T (p.Cys573Phe) c.2147G>T (p.Cys716Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070829C= | CA2293646692 | DSC2 | c.1718G= (p.Cys573=) c.2147G= (p.Cys716=) | |
| 18 | g.31070829C>G | CA022618 | DSC2 | c.1718G>C (p.Cys573Ser) c.2147G>C (p.Cys716Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070829C>T | CA402112551 | DSC2 | c.1718G>A (p.Cys573Tyr) c.2147G>A (p.Cys716Tyr) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070830A= | CA2293646693 | DSC2 | c.1717T= (p.Cys573=) c.2146T= (p.Cys716=) | |
| 18 | g.31070830A>C | CA035060 | DSC2 | c.1717T>G (p.Cys573Gly) c.2146T>G (p.Cys716Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070830A>G | CA402112552 | DSC2 | c.1717T>C (p.Cys573Arg) c.2146T>C (p.Cys716Arg) | gnomAD v4 |
| 18 | g.31070830A>T | CA402112553 | DSC2 | c.1717T>A (p.Cys573Ser) c.2146T>A (p.Cys716Ser) | |
| 18 | g.31070831G>A | CA503384765 | DSC2 | c.1716C>T (p.Val572=) c.2145C>T (p.Val715=) | |
| 18 | g.31070831G>C | CA503384766 | DSC2 | c.1716C>G (p.Val572=) c.2145C>G (p.Val715=) | |
| 18 | g.31070831G>T | CA503384767 | DSC2 | c.1716C>A (p.Val572=) c.2145C>A (p.Val715=) | COSMIC COSMIC |
| 18 | g.31070832A>C | CA402112556 | DSC2 | c.1715T>G (p.Val572Gly) c.2144T>G (p.Val715Gly) | |
| 18 | g.31070832A>G | CA402112555 | DSC2 | c.1715T>C (p.Val572Ala) c.2144T>C (p.Val715Ala) | |
| 18 | g.31070832A>T | CA402112554 | DSC2 | c.1715T>A (p.Val572Asp) c.2144T>A (p.Val715Asp) | |
| 18 | g.31070833C>A | CA402112557 | DSC2 | c.1714G>T (p.Val572Phe) c.2143G>T (p.Val715Phe) | |
| 18 | g.31070833C>G | CA402112558 | DSC2 | c.1714G>C (p.Val572Leu) c.2143G>C (p.Val715Leu) | gnomAD v4 |
| 18 | g.31070833C>T | CA402112559 | DSC2 | c.1714G>A (p.Val572Ile) c.2143G>A (p.Val715Ile) | |
| 18 | g.31070834C>A | CA503384768 | DSC2 | c.1713G>T (p.Leu571=) c.2142G>T (p.Leu714=) | |
| 18 | g.31070834C= | CA2293646694 | DSC2 | c.1713G= (p.Leu571=) c.2142G= (p.Leu714=) | |
| 18 | g.31070834C>G | CA035038 | DSC2 | c.1713G>C (p.Leu571=) c.2142G>C (p.Leu714=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070834C>T | CA035018 | DSC2 | c.1713G>A (p.Leu571=) c.2142G>A (p.Leu714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070835A>C | CA402112560 | DSC2 | c.1712T>G (p.Leu571Arg) c.2141T>G (p.Leu714Arg) | |
| 18 | g.31070835A>G | CA402112561 | DSC2 | c.1712T>C (p.Leu571Pro) c.2141T>C (p.Leu714Pro) | dbSNP |
| 18 | g.31070835A>T | CA402112562 | DSC2 | c.1712T>A (p.Leu571Gln) c.2141T>A (p.Leu714Gln) | |
| 18 | g.31070836G>A | CA503384769 | DSC2 | c.1711C>T (p.Leu571=) c.2140C>T (p.Leu714=) | |
| 18 | g.31070836G>C | CA402112563 | DSC2 | c.1711C>G (p.Leu571Val) c.2140C>G (p.Leu714Val) | |
| 18 | g.31070836G>T | CA402112564 | DSC2 | c.1711C>A (p.Leu571Met) c.2140C>A (p.Leu714Met) | |
| 18 | g.31070837C>A | CA297687895 | DSC2 | c.1710G>T (p.Thr570=) c.2139G>T (p.Thr713=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070837C= | CA2293646695 | DSC2 | c.1710G= (p.Thr570=) c.2139G= (p.Thr713=) | |
| 18 | g.31070837C>G | CA503384770 | DSC2 | c.1710G>C (p.Thr570=) c.2139G>C (p.Thr713=) | |
| 18 | g.31070837C>T | CA022613 | DSC2 | c.1710G>A (p.Thr570=) c.2139G>A (p.Thr713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070838G>A | CA034970 | DSC2 | c.1709C>T (p.Thr570Met) c.2138C>T (p.Thr713Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.31070838G>C | CA402112566 | DSC2 | c.1709C>G (p.Thr570Arg) c.2138C>G (p.Thr713Arg) | |
| 18 | g.31070838G= | CA2293646696 | DSC2 | c.1709C= (p.Thr570=) c.2138C= (p.Thr713=) | |
| 18 | g.31070838G>T | CA402112565 | DSC2 | c.1709C>A (p.Thr570Lys) c.2138C>A (p.Thr713Lys) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070839T>A | CA402112567 | DSC2 | c.1708A>T (p.Thr570Ser) c.2137A>T (p.Thr713Ser) | |
| 18 | g.31070839T>C | CA402112568 | DSC2 | c.1708A>G (p.Thr570Ala) c.2137A>G (p.Thr713Ala) | |
| 18 | g.31070839T>G | CA402112569 | DSC2 | c.1708A>C (p.Thr570Pro) c.2137A>C (p.Thr713Pro) | |
| 18 | g.31070840A>C | CA402112570 | DSC2 | c.1707T>G (p.Phe569Leu) c.2136T>G (p.Phe712Leu) | |
| 18 | g.31070840A>G | CA503384771 | DSC2 | c.1707T>C (p.Phe569=) c.2136T>C (p.Phe712=) | |
| 18 | g.31070840A>T | CA402112571 | DSC2 | c.1707T>A (p.Phe569Leu) c.2136T>A (p.Phe712Leu) | |
| 18 | g.31070842dup | CA2573155205 | DSC2 | c.1707dup (p.Thr570TyrfsTer11) c.2136dup (p.Thr713TyrfsTer11) | ClinVar dbSNP |
| 18 | g.31070842del | CA2739268623 | DSC2 | c.1707del (p.Phe569LeufsTer16) c.2136del (p.Phe712LeufsTer16) | ClinVar |
| 18 | g.31070841A>C | CA402112574 | DSC2 | c.1706T>G (p.Phe569Cys) c.2135T>G (p.Phe712Cys) | |
| 18 | g.31070841A>G | CA402112572 | DSC2 | c.1706T>C (p.Phe569Ser) c.2135T>C (p.Phe712Ser) | |
| 18 | g.31070841A>T | CA402112573 | DSC2 | c.1706T>A (p.Phe569Tyr) c.2135T>A (p.Phe712Tyr) | |
| 18 | g.31070842A>C | CA402112575 | DSC2 | c.1705T>G (p.Phe569Val) c.2134T>G (p.Phe712Val) | |
| 18 | g.31070842A>G | CA402112576 | DSC2 | c.1705T>C (p.Phe569Leu) c.2134T>C (p.Phe712Leu) | |
| 18 | g.31070842A>T | CA402112577 | DSC2 | c.1705T>A (p.Phe569Ile) c.2134T>A (p.Phe712Ile) | |
| 18 | g.31070843C>A | CA503384772 | DSC2 | c.1704G>T (p.Leu568=) c.2133G>T (p.Leu711=) | |
| 18 | g.31070843C>G | CA503384773 | DSC2 | c.1704G>C (p.Leu568=) c.2133G>C (p.Leu711=) | |
| 18 | g.31070843C>T | CA503384774 | DSC2 | c.1704G>A (p.Leu568=) c.2133G>A (p.Leu711=) | |
| 18 | g.31070844A>C | CA402112578 | DSC2 | c.1703T>G (p.Leu568Arg) c.2132T>G (p.Leu711Arg) | |
| 18 | g.31070844A>G | CA402112579 | DSC2 | c.1703T>C (p.Leu568Pro) c.2132T>C (p.Leu711Pro) | |
| 18 | g.31070844A>T | CA402112580 | DSC2 | c.1703T>A (p.Leu568Gln) c.2132T>A (p.Leu711Gln) | ClinVar gnomAD v4 |
| 18 | g.31070845G>A | CA503384775 | DSC2 | c.1702C>T (p.Leu568=) c.2131C>T (p.Leu711=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.31070845G>C | CA402112582 | DSC2 | c.1702C>G (p.Leu568Val) c.2131C>G (p.Leu711Val) | ClinVar |
| 18 | g.31070845G= | CA2293646697 | DSC2 | c.1702C= (p.Leu568=) c.2131C= (p.Leu711=) | |
| 18 | g.31070845G>T | CA402112581 | DSC2 | c.1702C>A (p.Leu568Met) c.2131C>A (p.Leu711Met) | |
| 18 | g.31070846G>A | CA503384776 | DSC2 | c.1701C>T (p.Ile567=) c.2130C>T (p.Ile710=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070846G>C | CA402112583 | DSC2 | c.1701C>G (p.Ile567Met) c.2130C>G (p.Ile710Met) | |
| 18 | g.31070846G= | CA2293646698 | DSC2 | c.1701C= (p.Ile567=) c.2130C= (p.Ile710=) | |
| 18 | g.31070846G>T | CA503384777 | DSC2 | c.1701C>A (p.Ile567=) c.2130C>A (p.Ile710=) | |
| 18 | g.31070847A= | CA2293646699 | DSC2 | c.1700T= (p.Ile567=) c.2129T= (p.Ile710=) | |
| 18 | g.31070847A>C | CA402112585 | DSC2 | c.1700T>G (p.Ile567Ser) c.2129T>G (p.Ile710Ser) | dbSNP |
| 18 | g.31070847A>G | CA402112584 | DSC2 | c.1700T>C (p.Ile567Thr) c.2129T>C (p.Ile710Thr) | |
| 18 | g.31070847A>T | CA402112586 | DSC2 | c.1700T>A (p.Ile567Asn) c.2129T>A (p.Ile710Asn) | |
| 18 | g.31070848T>A | CA034955 | DSC2 | c.1699A>T (p.Ile567Phe) c.2128A>T (p.Ile710Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070848T>C | CA402112587 | DSC2 | c.1699A>G (p.Ile567Val) c.2128A>G (p.Ile710Val) | ClinVar |
| 18 | g.31070848T>G | CA402112588 | DSC2 | c.1699A>C (p.Ile567Leu) c.2128A>C (p.Ile710Leu) | |
| 18 | g.31070848T= | CA2293646700 | DSC2 | c.1699A= (p.Ile567=) c.2128A= (p.Ile710=) | |
| 18 | g.31070849G>A | CA503384778 | DSC2 | c.1698C>T (p.Cys566=) c.2127C>T (p.Cys709=) | |
| 18 | g.31070849G>C | CA402112589 | DSC2 | c.1698C>G (p.Cys566Trp) c.2127C>G (p.Cys709Trp) | |
| 18 | g.31070849G>T | CA402112590 | DSC2 | c.1698C>A (p.Cys566Ter) c.2127C>A (p.Cys709Ter) | |
| 18 | g.31070849_31070850delinsGC | CA2293646701 | DSC2 | c.1697_1698delinsGC (p.Cys566=) c.2126_2127delinsGC (p.Cys709=) | |
| 18 | g.31070850C>A | CA402112591 | DSC2 | c.1697G>T (p.Cys566Phe) c.2126G>T (p.Cys709Phe) | |
| 18 | g.31070850C= | CA2293646702 | DSC2 | c.1697G= (p.Cys566=) c.2126G= (p.Cys709=) | |
| 18 | g.31070850C>G | CA402112592 | DSC2 | c.1697G>C (p.Cys566Ser) c.2126G>C (p.Cys709Ser) | ClinVar dbSNP |
| 18 | g.31070850C>T | CA034945 | DSC2 | c.1697G>A (p.Cys566Tyr) c.2126G>A (p.Cys709Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070851del | CA034927 | DSC2 | c.1697del c.2126del | dbSNP ExAC gnomAD v2 |
| 18 | g.31070851C>A | CA402112593 | DSC2 | c.1697-1G>T (n.1697-1G>T) c.2126-1G>T (n.2126-1G>T) | |
| 18 | g.31070851C>G | CA402112594 | DSC2 | c.1697-1G>C (n.1697-1G>C) c.2126-1G>C (n.2126-1G>C) | |
| 18 | g.31070851C>T | CA402112595 | DSC2 | c.1697-1G>A (n.1697-1G>A) c.2126-1G>A (n.2126-1G>A) | |
| 18 | g.31070852T>A | CA402112598 | DSC2 | c.1697-2A>T (n.1697-2A>T) c.2126-2A>T (n.2126-2A>T) | |
| 18 | g.31070852T>C | CA402112596 | DSC2 | c.1697-2A>G (n.1697-2A>G) c.2126-2A>G (n.2126-2A>G) | |
| 18 | g.31070852T>G | CA402112597 | DSC2 | c.1697-2A>C (n.1697-2A>C) c.2126-2A>C (n.2126-2A>C) | |
| 18 | g.31070854G>C | CA2641388155 | DSC2 | c.1697-4C>G (n.1697-4C>G) c.2126-4C>G (n.2126-4C>G) | gnomAD v4 |
| 18 | g.31070854G>T | CA2573155206 | DSC2 | c.1697-4C>A (n.1697-4C>A) c.2126-4C>A (n.2126-4C>A) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070856G>A | CA2580095618 | DSC2 | c.1697-6C>T (n.1697-6C>T) c.2126-6C>T (n.2126-6C>T) | ClinVar gnomAD v4 |
| 18 | g.31070857G>C | CA297687921 | DSC2 | c.1697-7C>G (n.1697-7C>G) c.2126-7C>G (n.2126-7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070857G= | CA2293646704 | DSC2 | c.1697-7C= (n.1697-7C=) c.2126-7C= (n.2126-7C=) | |
| 18 | g.31070857_31070861delinsGAAGA | CA2293646703 | DSC2 | c.1697-11_1697-7delinsTCTTC (n.1697-11_1697-7delinsTCTTC) c.2126-11_2126-7delinsTCTTC (n.2126-11_2126-7delinsTCTTC) | |
| 18 | g.31070864_31070867del | CA629140448 | DSC2 | c.1697-11_1697-8del (n.1697-11_1697-8del) c.2126-11_2126-8del (n.2126-11_2126-8del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070859A>G | CA2641388174 | DSC2 | c.1697-9T>C (n.1697-9T>C) c.2126-9T>C (n.2126-9T>C) | gnomAD v4 |
| 18 | g.31070860G= | CA2293646705 | DSC2 | c.1697-10C= (n.1697-10C=) c.2126-10C= (n.2126-10C=) | |
| 18 | g.31070860G>T | CA034813 | DSC2 | c.1697-10C>A (n.1697-10C>A) c.2126-10C>A (n.2126-10C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070861A= | CA2293646706 | DSC2 | c.1697-11T= (n.1697-11T=) c.2126-11T= (n.2126-11T=) | |
| 18 | g.31070861A>G | CA778393371 | DSC2 | c.1697-11T>C (n.1697-11T>C) c.2126-11T>C (n.2126-11T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070863A= | CA2293646707 | DSC2 | c.1697-13T= (n.1697-13T=) c.2126-13T= (n.2126-13T=) | |
| 18 | g.31070863A>G | CA629140449 | DSC2 | c.1697-13T>C (n.1697-13T>C) c.2126-13T>C (n.2126-13T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070864G>A | CA297687927 | DSC2 | c.1697-14C>T (n.1697-14C>T) c.2126-14C>T (n.2126-14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070864G= | CA2293646708 | DSC2 | c.1697-14C= (n.1697-14C=) c.2126-14C= (n.2126-14C=) | |
| 18 | g.31070867dup | CA778393395 | DSC2 | c.1697-15dup (n.1697-15dup) c.2126-15dup (n.2126-15dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070866A>C | CA2641388199 | DSC2 | c.1697-16T>G (n.1697-16T>G) c.2126-16T>G (n.2126-16T>G) | gnomAD v4 |
| 18 | g.31070867A= | CA2293646709 | DSC2 | c.1697-17T= (n.1697-17T=) c.2126-17T= (n.2126-17T=) | |
| 18 | g.31070867A>C | CA2293646710 | DSC2 | c.1697-17T>G (n.1697-17T>G) c.2126-17T>G (n.2126-17T>G) | dbSNP gnomAD v4 |
| 18 | g.31070868T>C | CA2293646711 | DSC2 | c.1697-18A>G (n.1697-18A>G) c.2126-18A>G (n.2126-18A>G) | dbSNP |
| 18 | g.31070868T= | CA2293646712 | DSC2 | c.1697-18A= (n.1697-18A=) c.2126-18A= (n.2126-18A=) | |
| 18 | g.31070869A= | CA2293646713 | DSC2 | c.1697-19T= (n.1697-19T=) c.2126-19T= (n.2126-19T=) | |
| 18 | g.31070869A>G | CA988890091 | DSC2 | c.1697-19T>C (n.1697-19T>C) c.2126-19T>C (n.2126-19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070870T>A | CA034823 | DSC2 | c.1697-20A>T (n.1697-20A>T) c.2126-20A>T (n.2126-20A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070870T>C | CA629140450 | DSC2 | c.1697-20A>G (n.1697-20A>G) c.2126-20A>G (n.2126-20A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070870T>G | CA2580095620 | DSC2 | c.1697-20A>C (n.1697-20A>C) c.2126-20A>C (n.2126-20A>C) | ClinVar |
| 18 | g.31070870T= | CA2293646714 | DSC2 | c.1697-20A= (n.1697-20A=) c.2126-20A= (n.2126-20A=) | |
| 18 | g.31070871A>G | CA656940251 | DSC2 | c.1697-21T>C (n.1697-21T>C) c.2126-21T>C (n.2126-21T>C) | gnomAD v4 COSMIC |
| 18 | g.31070872C= | CA2293646715 | DSC2 | c.1697-22G= (n.1697-22G=) c.2126-22G= (n.2126-22G=) | |
| 18 | g.31070872C>T | CA297687956 | DSC2 | c.1697-22G>A (n.1697-22G>A) c.2126-22G>A (n.2126-22G>A) | dbSNP gnomAD v4 |
| 18 | g.31070872_31070873delinsCT | CA2293646716 | DSC2 | c.1697-23_1697-22delinsAG (n.1697-23_1697-22delinsAG) c.2126-23_2126-22delinsAG (n.2126-23_2126-22delinsAG) | |
| 18 | g.31070874del | CA778393402 | DSC2 | c.1697-23del (n.1697-23del) c.2126-23del (n.2126-23del) | dbSNP gnomAD v4 |
| 18 | g.31070875_31070880del | CA2576478727 | DSC2 | c.1697-28_1697-23del (n.1697-28_1697-23del) c.2126-28_2126-23del (n.2126-28_2126-23del) | |
| 18 | g.31070875G>C | CA297687961 | DSC2 | c.1697-25C>G (n.1697-25C>G) c.2126-25C>G (n.2126-25C>G) | dbSNP gnomAD v2 |
| 18 | g.31070875G= | CA2293646717 | DSC2 | c.1697-25C= (n.1697-25C=) c.2126-25C= (n.2126-25C=) | |
| 18 | g.31070875G>T | CA2641388233 | DSC2 | c.1697-25C>A (n.1697-25C>A) c.2126-25C>A (n.2126-25C>A) | gnomAD v4 |
| 18 | g.31070876_31070877del | CA2641388234 | DSC2 | c.1697-26_1697-25del (n.1697-26_1697-25del) c.2126-26_2126-25del (n.2126-26_2126-25del) | gnomAD v4 |
| 18 | g.31070877G>A | CA629140452 | DSC2 | c.1697-27C>T (n.1697-27C>T) c.2126-27C>T (n.2126-27C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070877G= | CA2293646718 | DSC2 | c.1697-27C= (n.1697-27C=) c.2126-27C= (n.2126-27C=) | |
| 18 | g.31070878T>A | CA034850 | DSC2 | c.1697-28A>T (n.1697-28A>T) c.2126-28A>T (n.2126-28A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070878T>C | CA034837 | DSC2 | c.1697-28A>G (n.1697-28A>G) c.2126-28A>G (n.2126-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070878T= | CA2293646719 | DSC2 | c.1697-28A= (n.1697-28A=) c.2126-28A= (n.2126-28A=) | |
| 18 | g.31070881A= | CA2293646720 | DSC2 | c.1697-31T= (n.1697-31T=) c.2126-31T= (n.2126-31T=) | |
| 18 | g.31070881A>G | CA034866 | DSC2 | c.1697-31T>C (n.1697-31T>C) c.2126-31T>C (n.2126-31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070882T>G | CA778393407 | DSC2 | c.1697-32A>C (n.1697-32A>C) c.2126-32A>C (n.2126-32A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070882T= | CA2293646721 | DSC2 | c.1697-32A= (n.1697-32A=) c.2126-32A= (n.2126-32A=) | |
| 18 | g.31070883C>G | CA2576478734 | DSC2 | c.1697-33G>C (n.1697-33G>C) c.2126-33G>C (n.2126-33G>C) | |
| 18 | g.31070884A>G | CA2641388235 | DSC2 | c.1697-34T>C (n.1697-34T>C) c.2126-34T>C (n.2126-34T>C) | gnomAD v4 |
| 18 | g.31070889A>G | CA2576478735 | DSC2 | c.1697-39T>C (n.1697-39T>C) c.2126-39T>C (n.2126-39T>C) | gnomAD v4 |
| 18 | g.31070890T>A | CA2641388236 | DSC2 | c.1697-40A>T (n.1697-40A>T) c.2126-40A>T (n.2126-40A>T) | gnomAD v4 |