Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31070681A>G | CA2576478716 | DSC2 | c.1821+45T>C (n.1821+45T>C) c.2250+45T>C (n.2250+45T>C) | gnomAD v4 |
18 | g.31070682G>A | CA2641388067 | DSC2 | c.1821+44C>T (n.1821+44C>T) c.2250+44C>T (n.2250+44C>T) | gnomAD v4 |
18 | g.31070683C>A | CA035715 | DSC2 | c.1821+43G>T (n.1821+43G>T) c.2250+43G>T (n.2250+43G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070683C= | CA2293646620 | DSC2 | c.1821+43G= (n.1821+43G=) c.2250+43G= (n.2250+43G=) | |
18 | g.31070683C>T | CA2576478717 | DSC2 | c.1821+43G>A (n.1821+43G>A) c.2250+43G>A (n.2250+43G>A) | gnomAD v4 |
18 | g.31070684G>A | CA629140410 | DSC2 | c.1821+42C>T (n.1821+42C>T) c.2250+42C>T (n.2250+42C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070684G= | CA2293646621 | DSC2 | c.1821+42C= (n.1821+42C=) c.2250+42C= (n.2250+42C=) | |
18 | g.31070687T>C | CA2734953173 | DSC2 | c.1821+39A>G (n.1821+39A>G) c.2250+39A>G (n.2250+39A>G) | dbSNP |
18 | g.31070689C= | CA2293646622 | DSC2 | c.1821+37G= (n.1821+37G=) c.2250+37G= (n.2250+37G=) | |
18 | g.31070689C>G | CA035703 | DSC2 | c.1821+37G>C (n.1821+37G>C) c.2250+37G>C (n.2250+37G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070690A= | CA2293646623 | DSC2 | c.1821+36T= (n.1821+36T=) c.2250+36T= (n.2250+36T=) | |
18 | g.31070690A>T | CA629140411 | DSC2 | c.1821+36T>A (n.1821+36T>A) c.2250+36T>A (n.2250+36T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070691T>C | CA629140412 | DSC2 | c.1821+35A>G (n.1821+35A>G) c.2250+35A>G (n.2250+35A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070691T= | CA2293646624 | DSC2 | c.1821+35A= (n.1821+35A=) c.2250+35A= (n.2250+35A=) | |
18 | g.31070692C>A | CA035682 | DSC2 | c.1821+34G>T (n.1821+34G>T) c.2250+34G>T (n.2250+34G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070692C= | CA2293646625 | DSC2 | c.1821+34G= (n.1821+34G=) c.2250+34G= (n.2250+34G=) | |
18 | g.31070692C>T | CA2641388069 | DSC2 | c.1821+34G>A (n.1821+34G>A) c.2250+34G>A (n.2250+34G>A) | gnomAD v4 |
18 | g.31070694T>A | CA656940247 | DSC2 | c.1821+32A>T (n.1821+32A>T) c.2250+32A>T (n.2250+32A>T) | COSMIC COSMIC COSMIC COSMIC |
18 | g.31070699_31070704delinsATTTAT | CA2293646626 | DSC2 | c.1821+22_1821+27delinsATAAAT (n.1821+22_1821+27delinsATAAAT) c.2250+22_2250+27delinsATAAAT (n.2250+22_2250+27delinsATAAAT) | |
18 | g.31070700T>A | CA035669 | DSC2 | c.1821+26A>T (n.1821+26A>T) c.2250+26A>T (n.2250+26A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070700T>G | CA2641388070 | DSC2 | c.1821+26A>C (n.1821+26A>C) c.2250+26A>C (n.2250+26A>C) | gnomAD v4 |
18 | g.31070700T= | CA2293646627 | DSC2 | c.1821+26A= (n.1821+26A=) c.2250+26A= (n.2250+26A=) | |
18 | g.31070702_31070706del | CA629140413 | DSC2 | c.1821+22_1821+26del (n.1821+22_1821+26del) c.2250+22_2250+26del (n.2250+22_2250+26del) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070703A>G | CA2641388071 | DSC2 | c.1821+23T>C (n.1821+23T>C) c.2250+23T>C (n.2250+23T>C) | gnomAD v4 |
18 | g.31070703_31070704delinsAT | CA2293646628 | DSC2 | c.1821+22_1821+23delinsAT (n.1821+22_1821+23delinsAT) c.2250+22_2250+23delinsAT (n.2250+22_2250+23delinsAT) | |
18 | g.31070704T>C | CA2641388072 | DSC2 | c.1821+22A>G (n.1821+22A>G) c.2250+22A>G (n.2250+22A>G) | gnomAD v4 |
18 | g.31070706del | CA2293646629 | DSC2 | c.1821+22del (n.1821+22del) c.2250+22del (n.2250+22del) | dbSNP |
18 | g.31070705_31070707dup | CA2641388073 | DSC2 | c.1821+19_1821+21dup (n.1821+19_1821+21dup) c.2250+19_2250+21dup (n.2250+19_2250+21dup) | gnomAD v4 |
18 | g.31070707A>G | CA2641388074 | DSC2 | c.1821+19T>C (n.1821+19T>C) c.2250+19T>C (n.2250+19T>C) | gnomAD v4 |
18 | g.31070709A>G | CA2641388075 | DSC2 | c.1821+17T>C (n.1821+17T>C) c.2250+17T>C (n.2250+17T>C) | gnomAD v4 |
18 | g.31070710A= | CA2293646630 | DSC2 | c.1821+16T= (n.1821+16T=) c.2250+16T= (n.2250+16T=) | |
18 | g.31070710A>C | CA035656 | DSC2 | c.1821+16T>G (n.1821+16T>G) c.2250+16T>G (n.2250+16T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070712G>A | CA035638 | DSC2 | c.1821+14C>T (n.1821+14C>T) c.2250+14C>T (n.2250+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070712G= | CA2293646631 | DSC2 | c.1821+14C= (n.1821+14C=) c.2250+14C= (n.2250+14C=) | |
18 | g.31070713C>G | CA2641388076 | DSC2 | c.1821+13G>C (n.1821+13G>C) c.2250+13G>C (n.2250+13G>C) | gnomAD v4 |
18 | g.31070713C>T | CA2641388077 | DSC2 | c.1821+13G>A (n.1821+13G>A) c.2250+13G>A (n.2250+13G>A) | gnomAD v4 |
18 | g.31070714C>A | CA035630 | DSC2 | c.1821+12G>T (n.1821+12G>T) c.2250+12G>T (n.2250+12G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070714C= | CA2293646632 | DSC2 | c.1821+12G= (n.1821+12G=) c.2250+12G= (n.2250+12G=) | |
18 | g.31070714C>T | CA2293646633 | DSC2 | c.1821+12G>A (n.1821+12G>A) c.2250+12G>A (n.2250+12G>A) | dbSNP |
18 | g.31070716G>C | CA035618 | DSC2 | c.1821+10C>G (n.1821+10C>G) c.2250+10C>G (n.2250+10C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070716G= | CA2293646634 | DSC2 | c.1821+10C= (n.1821+10C=) c.2250+10C= (n.2250+10C=) | |
18 | g.31070717A= | CA2293646635 | DSC2 | c.1821+9T= (n.1821+9T=) c.2250+9T= (n.2250+9T=) | |
18 | g.31070717A>C | CA629140414 | DSC2 | c.1821+9T>G (n.1821+9T>G) c.2250+9T>G (n.2250+9T>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070719T>G | CA778393022 | DSC2 | c.1821+7A>C (n.1821+7A>C) c.2250+7A>C (n.2250+7A>C) | dbSNP |
18 | g.31070719T= | CA2293646636 | DSC2 | c.1821+7A= (n.1821+7A=) c.2250+7A= (n.2250+7A=) | |
18 | g.31070720A>G | CA2641388079 | DSC2 | c.1821+6T>C (n.1821+6T>C) c.2250+6T>C (n.2250+6T>C) | gnomAD v4 |
18 | g.31070723T>A | CA2641388080 | DSC2 | c.1821+3A>T (n.1821+3A>T) c.2250+3A>T (n.2250+3A>T) | gnomAD v4 |
18 | g.31070723T>C | CA658658732 | DSC2 | c.1821+3A>G (n.1821+3A>G) c.2250+3A>G (n.2250+3A>G) | ClinVar dbSNP gnomAD v4 |
18 | g.31070723T= | CA2293646637 | DSC2 | c.1821+3A= (n.1821+3A=) c.2250+3A= (n.2250+3A=) | |
18 | g.31070724A= | CA2293646638 | DSC2 | c.1821+2T= (n.1821+2T=) c.2250+2T= (n.2250+2T=) | |
18 | g.31070724A>C | CA402112258 | DSC2 | c.1821+2T>G (n.1821+2T>G) c.2250+2T>G (n.2250+2T>G) | |
18 | g.31070724A>G | CA16620671 | DSC2 | c.1821+2T>C (n.1821+2T>C) c.2250+2T>C (n.2250+2T>C) | ClinVar dbSNP gnomAD v4 |
18 | g.31070724A>T | CA402112256 | DSC2 | c.1821+2T>A (n.1821+2T>A) c.2250+2T>A (n.2250+2T>A) | |
18 | g.31070725C>A | CA402112261 | DSC2 | c.1821+1G>T (n.1821+1G>T) c.2250+1G>T (n.2250+1G>T) | gnomAD v4 |
18 | g.31070725C= | CA2293646639 | DSC2 | c.1821+1G= (n.1821+1G=) c.2250+1G= (n.2250+1G=) | |
18 | g.31070725C>G | CA402112262 | DSC2 | c.1821+1G>C (n.1821+1G>C) c.2250+1G>C (n.2250+1G>C) | ClinVar dbSNP |
18 | g.31070725C>T | CA402112264 | DSC2 | c.1821+1G>A (n.1821+1G>A) c.2250+1G>A (n.2250+1G>A) | ClinVar dbSNP gnomAD v4 |
18 | g.31070726C>A | CA503384701 | DSC2 | c.1821G>T (p.Val607=) c.2250G>T (p.Val750=) | COSMIC COSMIC |
18 | g.31070726C>G | CA503384702 | DSC2 | c.1821G>C (p.Val607=) c.2250G>C (p.Val750=) | |
18 | g.31070726C>T | CA503384703 | DSC2 | c.1821G>A (p.Val607=) c.2250G>A (p.Val750=) | |
18 | g.31070727A>C | CA402112266 | DSC2 | c.1820T>G (p.Val607Gly) c.2249T>G (p.Val750Gly) | |
18 | g.31070727A>G | CA402112268 | DSC2 | c.1820T>C (p.Val607Ala) c.2249T>C (p.Val750Ala) | |
18 | g.31070727A>T | CA402112269 | DSC2 | c.1820T>A (p.Val607Glu) c.2249T>A (p.Val750Glu) | |
18 | g.31070728C>A | CA402112274 | DSC2 | c.1819G>T (p.Val607Leu) c.2248G>T (p.Val750Leu) | |
18 | g.31070728C= | CA2293646640 | DSC2 | c.1819G= (p.Val607=) c.2248G= (p.Val750=) | |
18 | g.31070728C>G | CA035580 | DSC2 | c.1819G>C (p.Val607Leu) c.2248G>C (p.Val750Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070728C>T | CA402112273 | DSC2 | c.1819G>A (p.Val607Met) c.2248G>A (p.Val750Met) | ClinVar dbSNP |
18 | g.31070729T>A | CA035557 | DSC2 | c.1818A>T (p.Lys606Asn) c.2247A>T (p.Lys749Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070729T>C | CA503384704 | DSC2 | c.1818A>G (p.Lys606=) c.2247A>G (p.Lys749=) | |
18 | g.31070729T>G | CA402112277 | DSC2 | c.1818A>C (p.Lys606Asn) c.2247A>C (p.Lys749Asn) | COSMIC COSMIC |
18 | g.31070729T= | CA2293646641 | DSC2 | c.1818A= (p.Lys606=) c.2247A= (p.Lys749=) | |
18 | g.31070731dup | CA913189076 | DSC2 | c.1818dup (p.Val607SerfsTer?) c.2247dup (p.Val750SerfsTer?) | |
18 | g.31070730T>A | CA402112279 | DSC2 | c.1817A>T (p.Lys606Ile) c.2246A>T (p.Lys749Ile) | |
18 | g.31070730T>C | CA402112281 | DSC2 | c.1817A>G (p.Lys606Arg) c.2246A>G (p.Lys749Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070730T>G | CA402112283 | DSC2 | c.1817A>C (p.Lys606Thr) c.2246A>C (p.Lys749Thr) | gnomAD v4 |
18 | g.31070730T= | CA2293646642 | DSC2 | c.1817A= (p.Lys606=) c.2246A= (p.Lys749=) | |
18 | g.31070731T>A | CA402112285 | DSC2 | c.1816A>T (p.Lys606Ter) c.2245A>T (p.Lys749Ter) | |
18 | g.31070731T>C | CA402112287 | DSC2 | c.1816A>G (p.Lys606Glu) c.2245A>G (p.Lys749Glu) | gnomAD v4 |
18 | g.31070731T>G | CA022646 | DSC2 | c.1816A>C (p.Lys606Gln) c.2245A>C (p.Lys749Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070731T= | CA2293646643 | DSC2 | c.1816A= (p.Lys606=) c.2245A= (p.Lys749=) | |
18 | g.31070732G>A | CA10587907 | DSC2 | c.1815C>T (p.Asp605=) c.2244C>T (p.Asp748=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070732G>C | CA402112289 | DSC2 | c.1815C>G (p.Asp605Glu) c.2244C>G (p.Asp748Glu) | |
18 | g.31070732G= | CA2293646644 | DSC2 | c.1815C= (p.Asp605=) c.2244C= (p.Asp748=) | |
18 | g.31070732G>T | CA402112290 | DSC2 | c.1815C>A (p.Asp605Glu) c.2244C>A (p.Asp748Glu) | |
18 | g.31070733T>A | CA402112292 | DSC2 | c.1814A>T (p.Asp605Val) c.2243A>T (p.Asp748Val) | |
18 | g.31070733T>C | CA402112294 | DSC2 | c.1814A>G (p.Asp605Gly) c.2243A>G (p.Asp748Gly) | |
18 | g.31070733T>G | CA402112296 | DSC2 | c.1814A>C (p.Asp605Ala) c.2243A>C (p.Asp748Ala) | |
18 | g.31070734C>A | CA402112297 | DSC2 | c.1813G>T (p.Asp605Tyr) c.2242G>T (p.Asp748Tyr) | dbSNP |
18 | g.31070734C>G | CA402112298 | DSC2 | c.1813G>C (p.Asp605His) c.2242G>C (p.Asp748His) | gnomAD v4 |
18 | g.31070734C>T | CA402112300 | DSC2 | c.1813G>A (p.Asp605Asn) c.2242G>A (p.Asp748Asn) | |
18 | g.31070735A= | CA2293646645 | DSC2 | c.1812T= (p.Asp604=) c.2241T= (p.Asp747=) | |
18 | g.31070735A>C | CA402112302 | DSC2 | c.1812T>G (p.Asp604Glu) c.2241T>G (p.Asp747Glu) | |
18 | g.31070735A>G | CA503384705 | DSC2 | c.1812T>C (p.Asp604=) c.2241T>C (p.Asp747=) | |
18 | g.31070735A>T | CA402112304 | DSC2 | c.1812T>A (p.Asp604Glu) c.2241T>A (p.Asp747Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070736T>A | CA402112309 | DSC2 | c.1811A>T (p.Asp604Val) c.2240A>T (p.Asp747Val) | |
18 | g.31070736T>C | CA402112307 | DSC2 | c.1811A>G (p.Asp604Gly) c.2240A>G (p.Asp747Gly) | |
18 | g.31070736T>G | CA402112306 | DSC2 | c.1811A>C (p.Asp604Ala) c.2240A>C (p.Asp747Ala) | |
18 | g.31070737C>A | CA402112312 | DSC2 | c.1810G>T (p.Asp604Tyr) c.2239G>T (p.Asp747Tyr) | |
18 | g.31070737C>G | CA402112315 | DSC2 | c.1810G>C (p.Asp604His) c.2239G>C (p.Asp747His) | |
18 | g.31070737C>T | CA402112313 | DSC2 | c.1810G>A (p.Asp604Asn) c.2239G>A (p.Asp747Asn) | COSMIC COSMIC |
18 | g.31070738T>A | CA503384706 | DSC2 | c.1809A>T (p.Gly603=) c.2238A>T (p.Gly746=) | |
18 | g.31070738T>C | CA503384707 | DSC2 | c.1809A>G (p.Gly603=) c.2238A>G (p.Gly746=) | |
18 | g.31070738T>G | CA503384708 | DSC2 | c.1809A>C (p.Gly603=) c.2238A>C (p.Gly746=) | |
18 | g.31070739C>A | CA402112317 | DSC2 | c.1808G>T (p.Gly603Val) c.2237G>T (p.Gly746Val) | |
18 | g.31070739C= | CA2293646646 | DSC2 | c.1808G= (p.Gly603=) c.2237G= (p.Gly746=) | |
18 | g.31070739C>G | CA402112320 | DSC2 | c.1808G>C (p.Gly603Ala) c.2237G>C (p.Gly746Ala) | |
18 | g.31070739C>T | CA035526 | DSC2 | c.1808G>A (p.Gly603Glu) c.2237G>A (p.Gly746Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070740C>A | CA402112322 | DSC2 | c.1807G>T (p.Gly603Ter) c.2236G>T (p.Gly746Ter) | |
18 | g.31070740C= | CA2293646647 | DSC2 | c.1807G= (p.Gly603=) c.2236G= (p.Gly746=) | |
18 | g.31070740C>G | CA402112324 | DSC2 | c.1807G>C (p.Gly603Arg) c.2236G>C (p.Gly746Arg) | |
18 | g.31070740C>T | CA402112326 | DSC2 | c.1807G>A (p.Gly603Arg) c.2236G>A (p.Gly746Arg) | ClinVar dbSNP |
18 | g.31070741A>C | CA503384709 | DSC2 | c.1806T>G (p.Pro602=) c.2235T>G (p.Pro745=) | |
18 | g.31070741A>G | CA503384710 | DSC2 | c.1806T>C (p.Pro602=) c.2235T>C (p.Pro745=) | |
18 | g.31070741A>T | CA503384711 | DSC2 | c.1806T>A (p.Pro602=) c.2235T>A (p.Pro745=) | COSMIC COSMIC |
18 | g.31070741_31070742delinsAG | CA2293646648 | DSC2 | c.1805_1806delinsCT (p.Pro602=) c.2234_2235delinsCT (p.Pro745=) | |
18 | g.31070742G>A | CA402112328 | DSC2 | c.1805C>T (p.Pro602Leu) c.2234C>T (p.Pro745Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.31070742G>C | CA402112330 | DSC2 | c.1805C>G (p.Pro602Arg) c.2234C>G (p.Pro745Arg) | |
18 | g.31070742G>T | CA402112332 | DSC2 | c.1805C>A (p.Pro602His) c.2234C>A (p.Pro745His) | |
18 | g.31070743del | CA645372289 | DSC2 | c.1805del (p.Pro602LeufsTer?) c.2234del (p.Pro745LeufsTer?) | dbSNP |
18 | g.31070743G>A | CA402112334 | DSC2 | c.1804C>T (p.Pro602Ser) c.2233C>T (p.Pro745Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31070743G>C | CA402112336 | DSC2 | c.1804C>G (p.Pro602Ala) c.2233C>G (p.Pro745Ala) | |
18 | g.31070743G= | CA2293646649 | DSC2 | c.1804C= (p.Pro602=) c.2233C= (p.Pro745=) | |
18 | g.31070743G>T | CA402112338 | DSC2 | c.1804C>A (p.Pro602Thr) c.2233C>A (p.Pro745Thr) | |
18 | g.31070744A>C | CA503384714 | DSC2 | c.1803T>G (p.Ala601=) c.2232T>G (p.Ala744=) | |
18 | g.31070744A>G | CA503384713 | DSC2 | c.1803T>C (p.Ala601=) c.2232T>C (p.Ala744=) | |
18 | g.31070744A>T | CA503384712 | DSC2 | c.1803T>A (p.Ala601=) c.2232T>A (p.Ala744=) | gnomAD v4 |
18 | g.31070745G>A | CA035502 | DSC2 | c.1802C>T (p.Ala601Val) c.2231C>T (p.Ala744Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070745G>C | CA402112341 | DSC2 | c.1802C>G (p.Ala601Gly) c.2231C>G (p.Ala744Gly) | |
18 | g.31070745G= | CA2293646650 | DSC2 | c.1802C= (p.Ala601=) c.2231C= (p.Ala744=) | |
18 | g.31070745G>T | CA402112342 | DSC2 | c.1802C>A (p.Ala601Asp) c.2231C>A (p.Ala744Asp) | |
18 | g.31070746C>A | CA402112347 | DSC2 | c.1801G>T (p.Ala601Ser) c.2230G>T (p.Ala744Ser) | ClinVar |
18 | g.31070746C= | CA2293646651 | DSC2 | c.1801G= (p.Ala601=) c.2230G= (p.Ala744=) | |
18 | g.31070746C>G | CA402112351 | DSC2 | c.1801G>C (p.Ala601Pro) c.2230G>C (p.Ala744Pro) | |
18 | g.31070746C>T | CA402112349 | DSC2 | c.1801G>A (p.Ala601Thr) c.2230G>A (p.Ala744Thr) | dbSNP gnomAD v4 |
18 | g.31070747T>A | CA402112353 | DSC2 | c.1800A>T (p.Glu600Asp) c.2229A>T (p.Glu743Asp) | |
18 | g.31070747T>C | CA503384715 | DSC2 | c.1800A>G (p.Glu600=) c.2229A>G (p.Glu743=) | |
18 | g.31070747T>G | CA402112355 | DSC2 | c.1800A>C (p.Glu600Asp) c.2229A>C (p.Glu743Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070747T= | CA2293646652 | DSC2 | c.1800A= (p.Glu600=) c.2229A= (p.Glu743=) | |
18 | g.31070748T>A | CA402112357 | DSC2 | c.1799A>T (p.Glu600Val) c.2228A>T (p.Glu743Val) | |
18 | g.31070748T>C | CA402112359 | DSC2 | c.1799A>G (p.Glu600Gly) c.2228A>G (p.Glu743Gly) | |
18 | g.31070748T>G | CA402112360 | DSC2 | c.1799A>C (p.Glu600Ala) c.2228A>C (p.Glu743Ala) | |
18 | g.31070749C>A | CA402112362 | DSC2 | c.1798G>T (p.Glu600Ter) c.2227G>T (p.Glu743Ter) | |
18 | g.31070749C>G | CA402112364 | DSC2 | c.1798G>C (p.Glu600Gln) c.2227G>C (p.Glu743Gln) | |
18 | g.31070749C>T | CA402112366 | DSC2 | c.1798G>A (p.Glu600Lys) c.2227G>A (p.Glu743Lys) | |
18 | g.31070750T>A | CA503384716 | DSC2 | c.1797A>T (p.Thr599=) c.2226A>T (p.Thr742=) | |
18 | g.31070750T>C | CA035480 | DSC2 | c.1797A>G (p.Thr599=) c.2226A>G (p.Thr742=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070750T>G | CA503384717 | DSC2 | c.1797A>C (p.Thr599=) c.2226A>C (p.Thr742=) | |
18 | g.31070750T= | CA2293646653 | DSC2 | c.1797A= (p.Thr599=) c.2226A= (p.Thr742=) | |
18 | g.31070751G>A | CA402112371 | DSC2 | c.1796C>T (p.Thr599Ile) c.2225C>T (p.Thr742Ile) | |
18 | g.31070751G>C | CA402112372 | DSC2 | c.1796C>G (p.Thr599Arg) c.2225C>G (p.Thr742Arg) | |
18 | g.31070751G>T | CA402112369 | DSC2 | c.1796C>A (p.Thr599Lys) c.2225C>A (p.Thr742Lys) | |
18 | g.31070752T>A | CA402112373 | DSC2 | c.1795A>T (p.Thr599Ser) c.2224A>T (p.Thr742Ser) | |
18 | g.31070752T>C | CA402112375 | DSC2 | c.1795A>G (p.Thr599Ala) c.2224A>G (p.Thr742Ala) | |
18 | g.31070752T>G | CA402112377 | DSC2 | c.1795A>C (p.Thr599Pro) c.2224A>C (p.Thr742Pro) | |
18 | g.31070753G>A | CA503384718 | DSC2 | c.1794C>T (p.Asn598=) c.2223C>T (p.Asn741=) | |
18 | g.31070753G>C | CA402112379 | DSC2 | c.1794C>G (p.Asn598Lys) c.2223C>G (p.Asn741Lys) | |
18 | g.31070753G>T | CA402112380 | DSC2 | c.1794C>A (p.Asn598Lys) c.2223C>A (p.Asn741Lys) | |
18 | g.31070754T>A | CA402112383 | DSC2 | c.1793A>T (p.Asn598Ile) c.2222A>T (p.Asn741Ile) | |
18 | g.31070754T>C | CA402112385 | DSC2 | c.1793A>G (p.Asn598Ser) c.2222A>G (p.Asn741Ser) | |
18 | g.31070754T>G | CA402112386 | DSC2 | c.1793A>C (p.Asn598Thr) c.2222A>C (p.Asn741Thr) | |
18 | g.31070755T>A | CA402112388 | DSC2 | c.1792A>T (p.Asn598Tyr) c.2221A>T (p.Asn741Tyr) | |
18 | g.31070755T>C | CA402112390 | DSC2 | c.1792A>G (p.Asn598Asp) c.2221A>G (p.Asn741Asp) | |
18 | g.31070755T>G | CA402112392 | DSC2 | c.1792A>C (p.Asn598His) c.2221A>C (p.Asn741His) | |
18 | g.31070756T>A | CA035469 | DSC2 | c.1791A>T (p.Ser597=) c.2220A>T (p.Ser740=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070756T>C | CA503384719 | DSC2 | c.1791A>G (p.Ser597=) c.2220A>G (p.Ser740=) | |
18 | g.31070756T>G | CA503384720 | DSC2 | c.1791A>C (p.Ser597=) c.2220A>C (p.Ser740=) | |
18 | g.31070756T= | CA2293646654 | DSC2 | c.1791A= (p.Ser597=) c.2220A= (p.Ser740=) | |
18 | g.31070757G>A | CA402112396 | DSC2 | c.1790C>T (p.Ser597Leu) c.2219C>T (p.Ser740Leu) | |
18 | g.31070757G>C | CA402112397 | DSC2 | c.1790C>G (p.Ser597Ter) c.2219C>G (p.Ser740Ter) | |
18 | g.31070757G>T | CA402112394 | DSC2 | c.1790C>A (p.Ser597Ter) c.2219C>A (p.Ser740Ter) | dbSNP |
18 | g.31070758A= | CA2293646655 | DSC2 | c.1789T= (p.Ser597=) c.2218T= (p.Ser740=) | |
18 | g.31070758A>C | CA402112399 | DSC2 | c.1789T>G (p.Ser597Ala) c.2218T>G (p.Ser740Ala) | |
18 | g.31070758A>G | CA402112401 | DSC2 | c.1789T>C (p.Ser597Pro) c.2218T>C (p.Ser740Pro) | ClinVar dbSNP |
18 | g.31070758A>T | CA402112403 | DSC2 | c.1789T>A (p.Ser597Thr) c.2218T>A (p.Ser740Thr) | |
18 | g.31070759T>A | CA297687699 | DSC2 | c.1788A>T (p.Val596=) c.2217A>T (p.Val739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070759T>C | CA503384722 | DSC2 | c.1788A>G (p.Val596=) c.2217A>G (p.Val739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31070759T>G | CA503384721 | DSC2 | c.1788A>C (p.Val596=) c.2217A>C (p.Val739=) | |
18 | g.31070759T= | CA2293646656 | DSC2 | c.1788A= (p.Val596=) c.2217A= (p.Val739=) | |
18 | g.31070760A= | CA2293646657 | DSC2 | c.1787T= (p.Val596=) c.2216T= (p.Val739=) | |
18 | g.31070760A>C | CA402112405 | DSC2 | c.1787T>G (p.Val596Gly) c.2216T>G (p.Val739Gly) | |
18 | g.31070760A>G | CA035451 | DSC2 | c.1787T>C (p.Val596Ala) c.2216T>C (p.Val739Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070760A>T | CA402112407 | DSC2 | c.1787T>A (p.Val596Glu) c.2216T>A (p.Val739Glu) | |
18 | g.31070761C>A | CA402112410 | DSC2 | c.1786G>T (p.Val596Leu) c.2215G>T (p.Val739Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31070761C= | CA2293646658 | DSC2 | c.1786G= (p.Val596=) c.2215G= (p.Val739=) | |
18 | g.31070761C>G | CA402112411 | DSC2 | c.1786G>C (p.Val596Leu) c.2215G>C (p.Val739Leu) | gnomAD v4 |
18 | g.31070761C>T | CA035439 | DSC2 | c.1786G>A (p.Val596Ile) c.2215G>A (p.Val739Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070762A>C | CA402112412 | DSC2 | c.1785T>G (p.Ile595Met) c.2214T>G (p.Ile738Met) | |
18 | g.31070762A>G | CA503384723 | DSC2 | c.1785T>C (p.Ile595=) c.2214T>C (p.Ile738=) | gnomAD v4 |
18 | g.31070762A>T | CA503384724 | DSC2 | c.1785T>A (p.Ile595=) c.2214T>A (p.Ile738=) | |
18 | g.31070763A>C | CA402112413 | DSC2 | c.1784T>G (p.Ile595Ser) c.2213T>G (p.Ile738Ser) | |
18 | g.31070763A>G | CA402112414 | DSC2 | c.1784T>C (p.Ile595Thr) c.2213T>C (p.Ile738Thr) | |
18 | g.31070763A>T | CA402112415 | DSC2 | c.1784T>A (p.Ile595Asn) c.2213T>A (p.Ile738Asn) | |
18 | g.31070764T>A | CA402112418 | DSC2 | c.1783A>T (p.Ile595Phe) c.2212A>T (p.Ile738Phe) | |
18 | g.31070764T>C | CA402112417 | DSC2 | c.1783A>G (p.Ile595Val) c.2212A>G (p.Ile738Val) | gnomAD v4 |
18 | g.31070764T>G | CA402112416 | DSC2 | c.1783A>C (p.Ile595Leu) c.2212A>C (p.Ile738Leu) | |
18 | g.31070765T>A | CA503384725 | DSC2 | c.1782A>T (p.Leu594=) c.2211A>T (p.Leu737=) | |
18 | g.31070765T>C | CA503384726 | DSC2 | c.1782A>G (p.Leu594=) c.2211A>G (p.Leu737=) | |
18 | g.31070765T>G | CA503384727 | DSC2 | c.1782A>C (p.Leu594=) c.2211A>C (p.Leu737=) | |
18 | g.31070766A>C | CA402112419 | DSC2 | c.1781T>G (p.Leu594Arg) c.2210T>G (p.Leu737Arg) | |
18 | g.31070766A>G | CA402112421 | DSC2 | c.1781T>C (p.Leu594Pro) c.2210T>C (p.Leu737Pro) | |
18 | g.31070766A>T | CA402112420 | DSC2 | c.1781T>A (p.Leu594Gln) c.2210T>A (p.Leu737Gln) | |
18 | g.31070767G>A | CA503384728 | DSC2 | c.1780C>T (p.Leu594=) c.2209C>T (p.Leu737=) | gnomAD v4 |
18 | g.31070767G>C | CA402112422 | DSC2 | c.1780C>G (p.Leu594Val) c.2209C>G (p.Leu737Val) | |
18 | g.31070767G>T | CA402112423 | DSC2 | c.1780C>A (p.Leu594Ile) c.2209C>A (p.Leu737Ile) | |
18 | g.31070768G>A | CA022634 | DSC2 | c.1779C>T (p.Asn593=) c.2208C>T (p.Asn736=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070768G>C | CA402112424 | DSC2 | c.1779C>G (p.Asn593Lys) c.2208C>G (p.Asn736Lys) | |
18 | g.31070768G= | CA2293646659 | DSC2 | c.1779C= (p.Asn593=) c.2208C= (p.Asn736=) | |
18 | g.31070768G>T | CA402112425 | DSC2 | c.1779C>A (p.Asn593Lys) c.2208C>A (p.Asn736Lys) | |
18 | g.31070769T>A | CA402112426 | DSC2 | c.1778A>T (p.Asn593Ile) c.2207A>T (p.Asn736Ile) | |
18 | g.31070769T>C | CA402112427 | DSC2 | c.1778A>G (p.Asn593Ser) c.2207A>G (p.Asn736Ser) | |
18 | g.31070769T>G | CA402112428 | DSC2 | c.1778A>C (p.Asn593Thr) c.2207A>C (p.Asn736Thr) | |
18 | g.31070770T>A | CA402112429 | DSC2 | c.1777A>T (p.Asn593Tyr) c.2206A>T (p.Asn736Tyr) | |
18 | g.31070770T>C | CA035374 | DSC2 | c.1777A>G (p.Asn593Asp) c.2206A>G (p.Asn736Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070770T>G | CA402112430 | DSC2 | c.1777A>C (p.Asn593His) c.2206A>C (p.Asn736His) | |
18 | g.31070770T= | CA2293646660 | DSC2 | c.1777A= (p.Asn593=) c.2206A= (p.Asn736=) | |
18 | g.31070771C>A | CA10641320 | DSC2 | c.1776G>T (p.Gln592His) c.2205G>T (p.Gln735His) | ClinVar dbSNP |
18 | g.31070771C= | CA2293646661 | DSC2 | c.1776G= (p.Gln592=) c.2205G= (p.Gln735=) | |
18 | g.31070771C>G | CA402112431 | DSC2 | c.1776G>C (p.Gln592His) c.2205G>C (p.Gln735His) | |
18 | g.31070771C>T | CA503384729 | DSC2 | c.1776G>A (p.Gln592=) c.2205G>A (p.Gln735=) | |
18 | g.31070772T>A | CA402112432 | DSC2 | c.1775A>T (p.Gln592Leu) c.2204A>T (p.Gln735Leu) | |
18 | g.31070772T>C | CA402112433 | DSC2 | c.1775A>G (p.Gln592Arg) c.2204A>G (p.Gln735Arg) | |
18 | g.31070772T>G | CA402112434 | DSC2 | c.1775A>C (p.Gln592Pro) c.2204A>C (p.Gln735Pro) | |
18 | g.31070773G>A | CA402112435 | DSC2 | c.1774C>T (p.Gln592Ter) c.2203C>T (p.Gln735Ter) | ClinVar |
18 | g.31070773G>C | CA402112436 | DSC2 | c.1774C>G (p.Gln592Glu) c.2203C>G (p.Gln735Glu) | |
18 | g.31070773G>T | CA402112437 | DSC2 | c.1774C>A (p.Gln592Lys) c.2203C>A (p.Gln735Lys) | gnomAD v4 |
18 | g.31070774C>A | CA402112438 | DSC2 | c.1773G>T (p.Gln591His) c.2202G>T (p.Gln734His) | |
18 | g.31070774C= | CA2293646662 | DSC2 | c.1773G= (p.Gln591=) c.2202G= (p.Gln734=) | |
18 | g.31070774C>G | CA402112439 | DSC2 | c.1773G>C (p.Gln591His) c.2202G>C (p.Gln734His) | |
18 | g.31070774C>T | CA035362 | DSC2 | c.1773G>A (p.Gln591=) c.2202G>A (p.Gln734=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31070775T>A | CA402112440 | DSC2 | c.1772A>T (p.Gln591Leu) c.2201A>T (p.Gln734Leu) | |
18 | g.31070775T>C | CA402112441 | DSC2 | c.1772A>G (p.Gln591Arg) c.2201A>G (p.Gln734Arg) | ClinVar |
18 | g.31070775T>G | CA035347 | DSC2 | c.1772A>C (p.Gln591Pro) c.2201A>C (p.Gln734Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070775T= | CA2293646663 | DSC2 | c.1772A= (p.Gln591=) c.2201A= (p.Gln734=) | |
18 | g.31070776G>A | CA035335 | DSC2 | c.1771C>T (p.Gln591Ter) c.2200C>T (p.Gln734Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31070776G>C | CA402112443 | DSC2 | c.1771C>G (p.Gln591Glu) c.2200C>G (p.Gln734Glu) | |
18 | g.31070776G= | CA2293646664 | DSC2 | c.1771C= (p.Gln591=) c.2200C= (p.Gln734=) | |
18 | g.31070776G>T | CA402112442 | DSC2 | c.1771C>A (p.Gln591Lys) c.2200C>A (p.Gln734Lys) | |
18 | g.31070777G>A | CA503384730 | DSC2 | c.1770C>T (p.Ala590=) c.2199C>T (p.Ala733=) | ClinVar |
18 | g.31070777G>C | CA503384731 | DSC2 | c.1770C>G (p.Ala590=) c.2199C>G (p.Ala733=) | |
18 | g.31070777G>T | CA503384732 | DSC2 | c.1770C>A (p.Ala590=) c.2199C>A (p.Ala733=) | |
18 | g.31070778G>A | CA10641324 | DSC2 | c.1769C>T (p.Ala590Val) c.2198C>T (p.Ala733Val) | ClinVar dbSNP gnomAD v4 |
18 | g.31070778G>C | CA402112444 | DSC2 | c.1769C>G (p.Ala590Gly) c.2198C>G (p.Ala733Gly) | |
18 | g.31070778G= | CA2293646665 | DSC2 | c.1769C= (p.Ala590=) c.2198C= (p.Ala733=) | |
18 | g.31070778G>T | CA402112445 | DSC2 | c.1769C>A (p.Ala590Asp) c.2198C>A (p.Ala733Asp) | |
18 | g.31070779C>A | CA402112446 | DSC2 | c.1768G>T (p.Ala590Ser) c.2197G>T (p.Ala733Ser) | |
18 | g.31070779C= | CA2293646666 | DSC2 | c.1768G= (p.Ala590=) c.2197G= (p.Ala733=) | |
18 | g.31070779C>G | CA402112447 | DSC2 | c.1768G>C (p.Ala590Pro) c.2197G>C (p.Ala733Pro) | |
18 | g.31070779C>T | CA022628 | DSC2 | c.1768G>A (p.Ala590Thr) c.2197G>A (p.Ala733Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.31070779dup | CA2641388083 | DSC2 | c.1768dup (p.Ala590GlyfsTer16) c.2197dup (p.Ala733GlyfsTer16) | gnomAD v4 |
18 | g.31070780T>A | CA402112448 | DSC2 | c.1767A>T (p.Leu589Phe) c.2196A>T (p.Leu732Phe) | |
18 | g.31070780T>C | CA503384733 | DSC2 | c.1767A>G (p.Leu589=) c.2196A>G (p.Leu732=) | |
18 | g.31070780T>G | CA402112449 | DSC2 | c.1767A>C (p.Leu589Phe) c.2196A>C (p.Leu732Phe) |