UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31070648G>A | CA2293646602 | DSC2 | c.1821+78C>T (n.1821+78C>T) c.2250+78C>T (n.2250+78C>T) | dbSNP |
| 18 | g.31070648G>C | CA2641388043 | DSC2 | c.1821+78C>G (n.1821+78C>G) c.2250+78C>G (n.2250+78C>G) | gnomAD v4 |
| 18 | g.31070648G= | CA2293646601 | DSC2 | c.1821+78C= (n.1821+78C=) c.2250+78C= (n.2250+78C=) | |
| 18 | g.31070649A>G | CA2641388044 | DSC2 | c.1821+77T>C (n.1821+77T>C) c.2250+77T>C (n.2250+77T>C) | gnomAD v4 |
| 18 | g.31070651A>G | CA2641388045 | DSC2 | c.1821+75T>C (n.1821+75T>C) c.2250+75T>C (n.2250+75T>C) | dbSNP gnomAD v4 |
| 18 | g.31070652A= | CA2293646603 | DSC2 | c.1821+74T= (n.1821+74T=) c.2250+74T= (n.2250+74T=) | |
| 18 | g.31070652A>T | CA297687565 | DSC2 | c.1821+74T>A (n.1821+74T>A) c.2250+74T>A (n.2250+74T>A) | dbSNP |
| 18 | g.31070653G= | CA2293646604 | DSC2 | c.1821+73C= (n.1821+73C=) c.2250+73C= (n.2250+73C=) | |
| 18 | g.31070653G>T | CA778392989 | DSC2 | c.1821+73C>A (n.1821+73C>A) c.2250+73C>A (n.2250+73C>A) | dbSNP gnomAD v4 |
| 18 | g.31070654A>T | CA2576478714 | DSC2 | c.1821+72T>A (n.1821+72T>A) c.2250+72T>A (n.2250+72T>A) | |
| 18 | g.31070655T>C | CA2576478715 | DSC2 | c.1821+71A>G (n.1821+71A>G) c.2250+71A>G (n.2250+71A>G) | gnomAD v4 |
| 18 | g.31070656C>A | CA778392990 | DSC2 | c.1821+70G>T (n.1821+70G>T) c.2250+70G>T (n.2250+70G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070656C= | CA2293646605 | DSC2 | c.1821+70G= (n.1821+70G=) c.2250+70G= (n.2250+70G=) | |
| 18 | g.31070656C>T | CA2641388047 | DSC2 | c.1821+70G>A (n.1821+70G>A) c.2250+70G>A (n.2250+70G>A) | gnomAD v4 |
| 18 | g.31070657A>G | CA2641388049 | DSC2 | c.1821+69T>C (n.1821+69T>C) c.2250+69T>C (n.2250+69T>C) | gnomAD v4 |
| 18 | g.31070661del | CA2641388051 | DSC2 | c.1821+68del (n.1821+68del) c.2250+68del (n.2250+68del) | gnomAD v4 |
| 18 | g.31070661T>C | CA988890048 | DSC2 | c.1821+65A>G (n.1821+65A>G) c.2250+65A>G (n.2250+65A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070661T= | CA2293646606 | DSC2 | c.1821+65A= (n.1821+65A=) c.2250+65A= (n.2250+65A=) | |
| 18 | g.31070661_31070663delinsTAG | CA2293646607 | DSC2 | c.1821+63_1821+65delinsCTA (n.1821+63_1821+65delinsCTA) c.2250+63_2250+65delinsCTA (n.2250+63_2250+65delinsCTA) | |
| 18 | g.31070663_31070664del | CA2293646608 | DSC2 | c.1821+63_1821+64del (n.1821+63_1821+64del) c.2250+63_2250+64del (n.2250+63_2250+64del) | dbSNP |
| 18 | g.31070663G>T | CA2641388055 | DSC2 | c.1821+63C>A (n.1821+63C>A) c.2250+63C>A (n.2250+63C>A) | gnomAD v4 |
| 18 | g.31070664A= | CA2293646609 | DSC2 | c.1821+62T= (n.1821+62T=) c.2250+62T= (n.2250+62T=) | |
| 18 | g.31070664A>G | CA2293646610 | DSC2 | c.1821+62T>C (n.1821+62T>C) c.2250+62T>C (n.2250+62T>C) | dbSNP gnomAD v4 |
| 18 | g.31070666G>A | CA2557305316 | DSC2 | c.1821+60C>T (n.1821+60C>T) c.2250+60C>T (n.2250+60C>T) | |
| 18 | g.31070667G>C | CA2293646612 | DSC2 | c.1821+59C>G (n.1821+59C>G) c.2250+59C>G (n.2250+59C>G) | dbSNP |
| 18 | g.31070667G= | CA2293646611 | DSC2 | c.1821+59C= (n.1821+59C=) c.2250+59C= (n.2250+59C=) | |
| 18 | g.31070667_31070670dup | CA2641388056 | DSC2 | c.1821+56_1821+59dup (n.1821+56_1821+59dup) c.2250+56_2250+59dup (n.2250+56_2250+59dup) | gnomAD v4 |
| 18 | g.31070669A>G | CA2641388057 | DSC2 | c.1821+57T>C (n.1821+57T>C) c.2250+57T>C (n.2250+57T>C) | gnomAD v4 |
| 18 | g.31070672C= | CA2293646613 | DSC2 | c.1821+54G= (n.1821+54G=) c.2250+54G= (n.2250+54G=) | |
| 18 | g.31070672C>T | CA297687567 | DSC2 | c.1821+54G>A (n.1821+54G>A) c.2250+54G>A (n.2250+54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070673G>A | CA297687574 | DSC2 | c.1821+53C>T (n.1821+53C>T) c.2250+53C>T (n.2250+53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070673G>C | CA297687586 | DSC2 | c.1821+53C>G (n.1821+53C>G) c.2250+53C>G (n.2250+53C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070673G= | CA2293646614 | DSC2 | c.1821+53C= (n.1821+53C=) c.2250+53C= (n.2250+53C=) | |
| 18 | g.31070673G>T | CA778392998 | DSC2 | c.1821+53C>A (n.1821+53C>A) c.2250+53C>A (n.2250+53C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31070674C= | CA2293646615 | DSC2 | c.1821+52G= (n.1821+52G=) c.2250+52G= (n.2250+52G=) | |
| 18 | g.31070674C>T | CA778393002 | DSC2 | c.1821+52G>A (n.1821+52G>A) c.2250+52G>A (n.2250+52G>A) | dbSNP |
| 18 | g.31070675A= | CA2293646616 | DSC2 | c.1821+51T= (n.1821+51T=) c.2250+51T= (n.2250+51T=) | |
| 18 | g.31070675A>G | CA2293646617 | DSC2 | c.1821+51T>C (n.1821+51T>C) c.2250+51T>C (n.2250+51T>C) | dbSNP gnomAD v4 |
| 18 | g.31070675A>T | CA2641388064 | DSC2 | c.1821+51T>A (n.1821+51T>A) c.2250+51T>A (n.2250+51T>A) | gnomAD v4 |
| 18 | g.31070676T>C | CA629140409 | DSC2 | c.1821+50A>G (n.1821+50A>G) c.2250+50A>G (n.2250+50A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31070676T= | CA2293646618 | DSC2 | c.1821+50A= (n.1821+50A=) c.2250+50A= (n.2250+50A=) | |
| 18 | g.31070677T>C | CA035730 | DSC2 | c.1821+49A>G (n.1821+49A>G) c.2250+49A>G (n.2250+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31070677T= | CA2293646619 | DSC2 | c.1821+49A= (n.1821+49A=) c.2250+49A= (n.2250+49A=) | |
| 18 | g.31070678A>G | CA2641388066 | DSC2 | c.1821+48T>C (n.1821+48T>C) c.2250+48T>C (n.2250+48T>C) | gnomAD v4 |
| 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) | 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) | |
| 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) |