| 20 | g.44118580C>A | CA16043135 | JPH2 | c.1213G>T (p.Ala405Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118580C= | CA2365626472 | JPH2 | c.1213G= (p.Ala405=)
| |
| 20 | g.44118580C>G | CA409101810 | JPH2 | c.1213G>C (p.Ala405Pro)
| |
| 20 | g.44118580C>T | CA9868698 | JPH2 | c.1213G>A (p.Ala405Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118581G>A | CA9868699 | JPH2 | c.1212C>T (p.Ala404=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118581G>C | CA510571406 | JPH2 | c.1212C>G (p.Ala404=)
| |
| 20 | g.44118581G= | CA2365626473 | JPH2 | c.1212C= (p.Ala404=)
| |
| 20 | g.44118581G>T | CA510571407 | JPH2 | c.1212C>A (p.Ala404=)
| ClinVar gnomAD v4 |
| 20 | g.44118581_44118582insA | CA2518976594 | JPH2 | c.1211_1212insT (p.Ala405ArgfsTer?)
| |
| 20 | g.44118582G>A | CA409101811 | JPH2 | c.1211C>T (p.Ala404Val)
| gnomAD v4 COSMIC |
| 20 | g.44118582G>C | CA409101812 | JPH2 | c.1211C>G (p.Ala404Gly)
| |
| 20 | g.44118582G>T | CA409101813 | JPH2 | c.1211C>A (p.Ala404Asp)
| gnomAD v4 |
| 20 | g.44118582_44118583insTT | CA2511778009 | JPH2 | c.1210_1211insAA (p.Ala404GlufsTer?)
| |
| 20 | g.44118583C>A | CA409101814 | JPH2 | c.1210G>T (p.Ala404Ser)
| gnomAD v4 COSMIC |
| 20 | g.44118583C>G | CA409101815 | JPH2 | c.1210G>C (p.Ala404Pro)
| |
| 20 | g.44118583C>T | CA409101816 | JPH2 | c.1210G>A (p.Ala404Thr)
| gnomAD v4 |
| 20 | g.44118584C>A | CA409101817 | JPH2 | c.1209G>T (p.Gln403His)
| |
| 20 | g.44118584C>G | CA409101818 | JPH2 | c.1209G>C (p.Gln403His)
| |
| 20 | g.44118584C>T | CA510571408 | JPH2 | c.1209G>A (p.Gln403=)
| |
| 20 | g.44118585T>A | CA409101821 | JPH2 | c.1208A>T (p.Gln403Leu)
| |
| 20 | g.44118585T>C | CA409101819 | JPH2 | c.1208A>G (p.Gln403Arg)
| gnomAD v4 |
| 20 | g.44118585T>G | CA409101820 | JPH2 | c.1208A>C (p.Gln403Pro)
| |
| 20 | g.44118585_44118586insTCGTGATCCGAGGGATCAG | CA2543264218 | JPH2 | c.1207_1208insCTGATCCCTCGGATCACGA (p.Gln403ProfsTer?)
| |
| 20 | g.44118586G>A | CA409101822 | JPH2 | c.1207C>T (p.Gln403Ter)
| |
| 20 | g.44118586G>C | CA314643243 | JPH2 | c.1207C>G (p.Gln403Glu)
| ClinVar dbSNP |
| 20 | g.44118586G= | CA2365626474 | JPH2 | c.1207C= (p.Gln403=)
| |
| 20 | g.44118586G>T | CA409101823 | JPH2 | c.1207C>A (p.Gln403Lys)
| gnomAD v4 |
| 20 | g.44118587T>A | CA409101824 | JPH2 | c.1206A>T (p.Glu402Asp)
| |
| 20 | g.44118587T>C | CA510571409 | JPH2 | c.1206A>G (p.Glu402=)
| gnomAD v4 |
| 20 | g.44118587T>G | CA409101825 | JPH2 | c.1206A>C (p.Glu402Asp)
| |
| 20 | g.44118588T>A | CA409101826 | JPH2 | c.1205A>T (p.Glu402Val)
| |
| 20 | g.44118588T>C | CA409101827 | JPH2 | c.1205A>G (p.Glu402Gly)
| |
| 20 | g.44118588T>G | CA409101828 | JPH2 | c.1205A>C (p.Glu402Ala)
| |
| 20 | g.44118589C>A | CA409101829 | JPH2 | c.1204G>T (p.Glu402Ter)
| |
| 20 | g.44118589C= | CA2365626475 | JPH2 | c.1204G= (p.Glu402=)
| |
| 20 | g.44118589C>G | CA409101830 | JPH2 | c.1204G>C (p.Glu402Gln)
| |
| 20 | g.44118589C>T | CA334429 | JPH2 | c.1204G>A (p.Glu402Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118590C>A | CA510571411 | JPH2 | c.1203G>T (p.Ala401=)
| |
| 20 | g.44118590C= | CA2365626476 | JPH2 | c.1203G= (p.Ala401=)
| |
| 20 | g.44118590C>G | CA510571410 | JPH2 | c.1203G>C (p.Ala401=)
| |
| 20 | g.44118590C>T | CA9868700 | JPH2 | c.1203G>A (p.Ala401=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44118590_44118591insAGTCG | CA2546883925 | JPH2 | c.1202_1203insCGACT (p.Glu402AspfsTer?)
| |
| 20 | g.44118591G>A | CA9868701 | JPH2 | c.1202C>T (p.Ala401Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118591G>C | CA409101832 | JPH2 | c.1202C>G (p.Ala401Gly)
| dbSNP |
| 20 | g.44118591G= | CA2365626477 | JPH2 | c.1202C= (p.Ala401=)
| |
| 20 | g.44118591G>T | CA409101831 | JPH2 | c.1202C>A (p.Ala401Glu)
| gnomAD v4 |
| 20 | g.44118592C>A | CA409101835 | JPH2 | c.1201G>T (p.Ala401Ser)
| |
| 20 | g.44118592C= | CA2365626478 | JPH2 | c.1201G= (p.Ala401=)
| |
| 20 | g.44118592C>G | CA409101833 | JPH2 | c.1201G>C (p.Ala401Pro)
| |
| 20 | g.44118592C>T | CA409101834 | JPH2 | c.1201G>A (p.Ala401Thr)
| dbSNP gnomAD v2 |
| 20 | g.44118593T>A | CA510571412 | JPH2 | c.1200A>T (p.Ala400=)
| |
| 20 | g.44118593T>C | CA510571413 | JPH2 | c.1200A>G (p.Ala400=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118593T>G | CA510571414 | JPH2 | c.1200A>C (p.Ala400=)
| |
| 20 | g.44118593T= | CA2365626479 | JPH2 | c.1200A= (p.Ala400=)
| |
| 20 | g.44118593_44118594insCCGTA | CA2571974199 | JPH2 | c.1199_1200insTACGG (p.Ala401ThrfsTer?)
| |
| 20 | g.44118594G>A | CA9868702 | JPH2 | c.1199C>T (p.Ala400Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118594G>C | CA409101836 | JPH2 | c.1199C>G (p.Ala400Gly)
| |
| 20 | g.44118594G= | CA2365626480 | JPH2 | c.1199C= (p.Ala400=)
| |
| 20 | g.44118594G>T | CA409101837 | JPH2 | c.1199C>A (p.Ala400Glu)
| gnomAD v4 |
| 20 | g.44118595C>A | CA409101838 | JPH2 | c.1198G>T (p.Ala400Ser)
| |
| 20 | g.44118595C= | CA2365626481 | JPH2 | c.1198G= (p.Ala400=)
| |
| 20 | g.44118595C>G | CA409101839 | JPH2 | c.1198G>C (p.Ala400Pro)
| |
| 20 | g.44118595C>T | CA409101840 | JPH2 | c.1198G>A (p.Ala400Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118595_44118596insGCTTCAGGGT | CA2534987520 | JPH2 | c.1197_1198insACCCTGAAGC (p.Ala400ThrfsTer?)
| |
| 20 | g.44118596C>A | CA409101841 | JPH2 | c.1197G>T (p.Glu399Asp)
| |
| 20 | g.44118596C>G | CA409101842 | JPH2 | c.1197G>C (p.Glu399Asp)
| |
| 20 | g.44118596C>T | CA510571415 | JPH2 | c.1197G>A (p.Glu399=)
| COSMIC |
| 20 | g.44118597T>A | CA409101843 | JPH2 | c.1196A>T (p.Glu399Val)
| |
| 20 | g.44118597T>C | CA409101844 | JPH2 | c.1196A>G (p.Glu399Gly)
| gnomAD v4 |
| 20 | g.44118597T>G | CA409101845 | JPH2 | c.1196A>C (p.Glu399Ala)
| |
| 20 | g.44118598C>A | CA409101846 | JPH2 | c.1195G>T (p.Glu399Ter)
| |
| 20 | g.44118598C>G | CA409101848 | JPH2 | c.1195G>C (p.Glu399Gln)
| |
| 20 | g.44118598C>T | CA409101847 | JPH2 | c.1195G>A (p.Glu399Lys)
| |
| 20 | g.44118598_44118599insCCAGGAA | CA2507170878 | JPH2 | c.1194_1195insTTCCTGG (p.Glu399PhefsTer?)
| |
| 20 | g.44118599A>C | CA510571416 | JPH2 | c.1194T>G (p.Ala398=)
| |
| 20 | g.44118599A>G | CA510571417 | JPH2 | c.1194T>C (p.Ala398=)
| |
| 20 | g.44118599A>T | CA510571418 | JPH2 | c.1194T>A (p.Ala398=)
| |
| 20 | g.44118600G>A | CA409101849 | JPH2 | c.1193C>T (p.Ala398Val)
| gnomAD v4 |
| 20 | g.44118600G>C | CA409101850 | JPH2 | c.1193C>G (p.Ala398Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118600G= | CA2365626482 | JPH2 | c.1193C= (p.Ala398=)
| |
| 20 | g.44118600G>T | CA409101851 | JPH2 | c.1193C>A (p.Ala398Asp)
| gnomAD v4 |
| 20 | g.44118601C>A | CA409101852 | JPH2 | c.1192G>T (p.Ala398Ser)
| |
| 20 | g.44118601C>G | CA409101853 | JPH2 | c.1192G>C (p.Ala398Pro)
| |
| 20 | g.44118601C>T | CA409101854 | JPH2 | c.1192G>A (p.Ala398Thr)
| |
| 20 | g.44118601_44118602insGGGA | CA2521655353 | JPH2 | c.1191_1192insTCCC (p.Ala398SerfsTer3)
| |
| 20 | g.44118602T>A | CA409101855 | JPH2 | c.1191A>T (p.Lys397Asn)
| |
| 20 | g.44118602T>C | CA510571419 | JPH2 | c.1191A>G (p.Lys397=)
| dbSNP |
| 20 | g.44118602T>G | CA409101856 | JPH2 | c.1191A>C (p.Lys397Asn)
| |
| 20 | g.44118602T= | CA2365626483 | JPH2 | c.1191A= (p.Lys397=)
| |
| 20 | g.44118604del | CA2652956034 | JPH2 | c.1191del (p.Ala398LeufsTer?)
| gnomAD v4 |
| 20 | g.44118603T>A | CA409101857 | JPH2 | c.1190A>T (p.Lys397Ile)
| |
| 20 | g.44118603T>C | CA409101858 | JPH2 | c.1190A>G (p.Lys397Arg)
| |
| 20 | g.44118603T>G | CA409101859 | JPH2 | c.1190A>C (p.Lys397Thr)
| |
| 20 | g.44118604T>A | CA409101861 | JPH2 | c.1189A>T (p.Lys397Ter)
| |
| 20 | g.44118604T>C | CA409101862 | JPH2 | c.1189A>G (p.Lys397Glu)
| |
| 20 | g.44118604T>G | CA409101860 | JPH2 | c.1189A>C (p.Lys397Gln)
| |
| 20 | g.44118605G>A | CA510571420 | JPH2 | c.1188C>T (p.Ala396=)
| |
| 20 | g.44118605G>C | CA510571421 | JPH2 | c.1188C>G (p.Ala396=)
| ClinVar gnomAD v4 |
| 20 | g.44118605G>T | CA510571422 | JPH2 | c.1188C>A (p.Ala396=)
| gnomAD v4 |
| 20 | g.44118606_44118607insACGCCGG | CA2510738882 | JPH2 | c.1188_1189insGGCGTCC (p.Lys397GlyfsTer5)
| |
| 20 | g.44118606G>A | CA409101863 | JPH2 | c.1187C>T (p.Ala396Val)
| |
| 20 | g.44118606G>C | CA409101864 | JPH2 | c.1187C>G (p.Ala396Gly)
| |
| 20 | g.44118606G>T | CA409101865 | JPH2 | c.1187C>A (p.Ala396Asp)
| |
| 20 | g.44118607C>A | CA9868703 | JPH2 | c.1186G>T (p.Ala396Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118607C= | CA2365626484 | JPH2 | c.1186G= (p.Ala396=)
| |
| 20 | g.44118607C>G | CA409101866 | JPH2 | c.1186G>C (p.Ala396Pro)
| |
| 20 | g.44118607C>T | CA200001 | JPH2 | c.1186G>A (p.Ala396Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118607_44118608delinsCC | CA2365626485 | JPH2 | c.1185_1186delinsGG (p.Lys395=)
| |
| 20 | g.44118607_44118608delinsTT | CA16616465 | JPH2 | c.1185_1186delinsAA (p.Ala396Thr)
| ClinVar dbSNP |
| 20 | g.44118608C>A | CA409101867 | JPH2 | c.1185G>T (p.Lys395Asn)
| |
| 20 | g.44118608C= | CA2365626486 | JPH2 | c.1185G= (p.Lys395=)
| |
| 20 | g.44118608C>G | CA409101868 | JPH2 | c.1185G>C (p.Lys395Asn)
| |
| 20 | g.44118608C>T | CA9868704 | JPH2 | c.1185G>A (p.Lys395=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118609T>A | CA409101869 | JPH2 | c.1184A>T (p.Lys395Met)
| |
| 20 | g.44118609T>C | CA409101870 | JPH2 | c.1184A>G (p.Lys395Arg)
| dbSNP gnomAD v2 |
| 20 | g.44118609T>G | CA409101871 | JPH2 | c.1184A>C (p.Lys395Thr)
| |
| 20 | g.44118609T= | CA2365626487 | JPH2 | c.1184A= (p.Lys395=)
| |
| 20 | g.44118610T>A | CA409101873 | JPH2 | c.1183A>T (p.Lys395Ter)
| |
| 20 | g.44118610T>C | CA409101874 | JPH2 | c.1183A>G (p.Lys395Glu)
| |
| 20 | g.44118610T>G | CA409101872 | JPH2 | c.1183A>C (p.Lys395Gln)
| |
| 20 | g.44118611G>A | CA510571423 | JPH2 | c.1182C>T (p.Ala394=)
| |
| 20 | g.44118611G>C | CA510571424 | JPH2 | c.1182C>G (p.Ala394=)
| |
| 20 | g.44118611G>T | CA510571425 | JPH2 | c.1182C>A (p.Ala394=)
| |
| 20 | g.44118612G>A | CA409101875 | JPH2 | c.1181C>T (p.Ala394Val)
| |
| 20 | g.44118612G>C | CA9868705 | JPH2 | c.1181C>G (p.Ala394Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118612G= | CA2365626488 | JPH2 | c.1181C= (p.Ala394=)
| |
| 20 | g.44118612G>T | CA409101876 | JPH2 | c.1181C>A (p.Ala394Asp)
| gnomAD v4 |
| 20 | g.44118613_44118614del | CA2580098214 | JPH2 | c.1180_1181del (p.Ala394GlnfsTer5)
| ClinVar |
| 20 | g.44118613C>A | CA409101877 | JPH2 | c.1180G>T (p.Ala394Ser)
| |
| 20 | g.44118613C= | CA2365626489 | JPH2 | c.1180G= (p.Ala394=)
| |
| 20 | g.44118613C>G | CA409101878 | JPH2 | c.1180G>C (p.Ala394Pro)
| |
| 20 | g.44118613C>T | CA9868706 | JPH2 | c.1180G>A (p.Ala394Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44118614G>A | CA333092 | JPH2 | c.1179C>T (p.His393=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118614G>C | CA409101879 | JPH2 | c.1179C>G (p.His393Gln)
| |
| 20 | g.44118614G= | CA2365626490 | JPH2 | c.1179C= (p.His393=)
| |
| 20 | g.44118614G>T | CA409101880 | JPH2 | c.1179C>A (p.His393Gln)
| gnomAD v4 |
| 20 | g.44118615T>A | CA409101881 | JPH2 | c.1178A>T (p.His393Leu)
| |
| 20 | g.44118615T>C | CA409101882 | JPH2 | c.1178A>G (p.His393Arg)
| gnomAD v4 |
| 20 | g.44118615T>G | CA409101883 | JPH2 | c.1178A>C (p.His393Pro)
| |
| 20 | g.44118616G>A | CA409101884 | JPH2 | c.1177C>T (p.His393Tyr)
| dbSNP |
| 20 | g.44118616G>C | CA409101885 | JPH2 | c.1177C>G (p.His393Asp)
| |
| 20 | g.44118616G= | CA2365626491 | JPH2 | c.1177C= (p.His393=)
| |
| 20 | g.44118616G>T | CA409101886 | JPH2 | c.1177C>A (p.His393Asn)
| gnomAD v4 |
| 20 | g.44118617G>A | CA510571426 | JPH2 | c.1176C>T (p.Ser392=)
| gnomAD v4 COSMIC |
| 20 | g.44118617G>C | CA409101887 | JPH2 | c.1176C>G (p.Ser392Arg)
| COSMIC |
| 20 | g.44118617G>T | CA409101888 | JPH2 | c.1176C>A (p.Ser392Arg)
| gnomAD v4 |
| 20 | g.44118618C>A | CA409101889 | JPH2 | c.1175G>T (p.Ser392Ile)
| |
| 20 | g.44118618C= | CA2365626492 | JPH2 | c.1175G= (p.Ser392=)
| |
| 20 | g.44118618C>G | CA409101890 | JPH2 | c.1175G>C (p.Ser392Thr)
| |
| 20 | g.44118618C>T | CA9868707 | JPH2 | c.1175G>A (p.Ser392Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118619T>A | CA409101891 | JPH2 | c.1174A>T (p.Ser392Cys)
| gnomAD v4 |
| 20 | g.44118619T>C | CA409101893 | JPH2 | c.1174A>G (p.Ser392Gly)
| |
| 20 | g.44118619T>G | CA409101892 | JPH2 | c.1174A>C (p.Ser392Arg)
| |
| 20 | g.44118620T>A | CA510571427 | JPH2 | c.1173A>T (p.Thr391=)
| |
| 20 | g.44118620T>C | CA510571428 | JPH2 | c.1173A>G (p.Thr391=)
| ClinVar gnomAD v4 |
| 20 | g.44118620T>G | CA510571429 | JPH2 | c.1173A>C (p.Thr391=)
| |
| 20 | g.44118621G>A | CA409101894 | JPH2 | c.1172C>T (p.Thr391Ile)
| gnomAD v4 COSMIC |
| 20 | g.44118621G>C | CA409101895 | JPH2 | c.1172C>G (p.Thr391Arg)
| COSMIC |
| 20 | g.44118621G>T | CA409101896 | JPH2 | c.1172C>A (p.Thr391Lys)
| gnomAD v4 |
| 20 | g.44118622T>A | CA409101897 | JPH2 | c.1171A>T (p.Thr391Ser)
| |
| 20 | g.44118622T>C | CA409101898 | JPH2 | c.1171A>G (p.Thr391Ala)
| ClinVar gnomAD v4 |
| 20 | g.44118622T>G | CA409101899 | JPH2 | c.1171A>C (p.Thr391Pro)
| |
| 20 | g.44118623C>A | CA409101900 | JPH2 | c.1170G>T (p.Arg390Ser)
| |
| 20 | g.44118623C>G | CA409101901 | JPH2 | c.1170G>C (p.Arg390Ser)
| |
| 20 | g.44118623C>T | CA510571430 | JPH2 | c.1170G>A (p.Arg390=)
| |
| 20 | g.44118624del | CA2652956036 | JPH2 | c.1170del
| gnomAD v4 |
| 20 | g.44118624C>A | CA409101902 | JPH2 | c.1170-1G>T (n.1170-1G>T)
| |
| 20 | g.44118624C>G | CA409101903 | JPH2 | c.1170-1G>C (n.1170-1G>C)
| |
| 20 | g.44118624C>T | CA409101904 | JPH2 | c.1170-1G>A (n.1170-1G>A)
| gnomAD v4 |
| 20 | g.44118625T>A | CA409101907 | JPH2 | c.1170-2A>T (n.1170-2A>T)
| gnomAD v4 |
| 20 | g.44118625T>C | CA409101906 | JPH2 | c.1170-2A>G (n.1170-2A>G)
| |
| 20 | g.44118625T>G | CA409101905 | JPH2 | c.1170-2A>C (n.1170-2A>C)
| |
| 20 | g.44118626A>G | CA2652956037 | JPH2 | c.1170-3T>C (n.1170-3T>C)
| ClinVar gnomAD v4 |
| 20 | g.44118627T>C | CA2652956038 | JPH2 | c.1170-4A>G (n.1170-4A>G)
| dbSNP gnomAD v4 |
| 20 | g.44118628G>A | CA9868708 | JPH2 | c.1170-5C>T (n.1170-5C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118628G= | CA2365626493 | JPH2 | c.1170-5C= (n.1170-5C=)
| |
| 20 | g.44118628G>T | CA2652956039 | JPH2 | c.1170-5C>A (n.1170-5C>A)
| gnomAD v4 |
| 20 | g.44118629G>A | CA2365626495 | JPH2 | c.1170-6C>T (n.1170-6C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118629G= | CA2365626494 | JPH2 | c.1170-6C= (n.1170-6C=)
| |
| 20 | g.44118629G>T | CA2652956040 | JPH2 | c.1170-6C>A (n.1170-6C>A)
| gnomAD v4 |
| 20 | g.44118631G>A | CA635961142 | JPH2 | c.1170-8C>T (n.1170-8C>T)
| dbSNP gnomAD v2 |
| 20 | g.44118631G= | CA2365626496 | JPH2 | c.1170-8C= (n.1170-8C=)
| |
| 20 | g.44118631G>T | CA2652956041 | JPH2 | c.1170-8C>A (n.1170-8C>A)
| gnomAD v4 |
| 20 | g.44118632A>G | CA2652956042 | JPH2 | c.1170-9T>C (n.1170-9T>C)
| gnomAD v4 |
| 20 | g.44118634A= | CA2365626497 | JPH2 | c.1170-11T= (n.1170-11T=)
| |
| 20 | g.44118634A>G | CA9868709 | JPH2 | c.1170-11T>C (n.1170-11T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118636T>A | CA2652956043 | JPH2 | c.1170-13A>T (n.1170-13A>T)
| gnomAD v4 |
| 20 | g.44118637G>A | CA9868710 | JPH2 | c.1170-14C>T (n.1170-14C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118637G= | CA2365626498 | JPH2 | c.1170-14C= (n.1170-14C=)
| |
| 20 | g.44118637G>T | CA2652956044 | JPH2 | c.1170-14C>A (n.1170-14C>A)
| gnomAD v4 |
| 20 | g.44118639G>T | CA2652956045 | JPH2 | c.1170-16C>A (n.1170-16C>A)
| gnomAD v4 |
| 20 | g.44118640del | CA657639347 | JPH2 | c.1170-16del (n.1170-16del)
| COSMIC |
| 20 | g.44118640G>A | CA635961145 | JPH2 | c.1170-17C>T (n.1170-17C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118640G= | CA2365626499 | JPH2 | c.1170-17C= (n.1170-17C=)
| |
| 20 | g.44118640G>T | CA635961146 | JPH2 | c.1170-17C>A (n.1170-17C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44118641C>G | CA2652956046 | JPH2 | c.1170-18G>C (n.1170-18G>C)
| gnomAD v4 |
| 20 | g.44118641C>T | CA2652956047 | JPH2 | c.1170-18G>A (n.1170-18G>A)
| gnomAD v4 |
| 20 | g.44118643G>T | CA2652956048 | JPH2 | c.1170-20C>A (n.1170-20C>A)
| gnomAD v4 |
| 20 | g.44118644A>G | CA2652956049 | JPH2 | c.1170-21T>C (n.1170-21T>C)
| gnomAD v4 |
| 20 | g.44118645A= | CA2365626500 | JPH2 | c.1170-22T= (n.1170-22T=)
| |
| 20 | g.44118645A>G | CA9868711 | JPH2 | c.1170-22T>C (n.1170-22T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118646G>T | CA2652956050 | JPH2 | c.1170-23C>A (n.1170-23C>A)
| gnomAD v4 |
| 20 | g.44118648C= | CA2365626501 | JPH2 | c.1170-25G= (n.1170-25G=)
| |
| 20 | g.44118648C>G | CA744698874 | JPH2 | c.1170-25G>C (n.1170-25G>C)
| dbSNP |
| 20 | g.44118649T>A | CA2652956052 | JPH2 | c.1170-26A>T (n.1170-26A>T)
| gnomAD v4 |
| 20 | g.44118650_44118651del | CA2652956053 | JPH2 | c.1170-28_1170-27del (n.1170-28_1170-27del)
| gnomAD v4 |
| 20 | g.44118651A= | CA2365626502 | JPH2 | c.1170-28T= (n.1170-28T=)
| |
| 20 | g.44118651A>G | CA9868712 | JPH2 | c.1170-28T>C (n.1170-28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118651A>T | CA2365626503 | JPH2 | c.1170-28T>A (n.1170-28T>A)
| dbSNP |
| 20 | g.44118652G>C | CA2365626505 | JPH2 | c.1170-29C>G (n.1170-29C>G)
| dbSNP gnomAD v4 |
| 20 | g.44118652G= | CA2365626504 | JPH2 | c.1170-29C= (n.1170-29C=)
| |
| 20 | g.44118652G>T | CA2652956054 | JPH2 | c.1170-29C>A (n.1170-29C>A)
| gnomAD v4 |
| 20 | g.44118653G= | CA2365626506 | JPH2 | c.1170-30C= (n.1170-30C=)
| |
| 20 | g.44118653G>T | CA635961147 | JPH2 | c.1170-30C>A (n.1170-30C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118655T>A | CA2652956055 | JPH2 | c.1170-32A>T (n.1170-32A>T)
| gnomAD v4 |
| 20 | g.44118656C>A | CA2652956056 | JPH2 | c.1170-33G>T (n.1170-33G>T)
| gnomAD v4 |
| 20 | g.44118656C= | CA2365626507 | JPH2 | c.1170-33G= (n.1170-33G=)
| |
| 20 | g.44118656C>T | CA2365626508 | JPH2 | c.1170-33G>A (n.1170-33G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118657C>A | CA2652956057 | JPH2 | c.1170-34G>T (n.1170-34G>T)
| gnomAD v4 |
| 20 | g.44118657C>T | CA2652956058 | JPH2 | c.1170-34G>A (n.1170-34G>A)
| gnomAD v4 |
| 20 | g.44118658T>C | CA9868713 | JPH2 | c.1170-35A>G (n.1170-35A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118658T= | CA2365626509 | JPH2 | c.1170-35A= (n.1170-35A=)
| |
| 20 | g.44118659T>A | CA2593121516 | JPH2 | c.1170-36A>T (n.1170-36A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118660C>A | CA2577404031 | JPH2 | c.1170-37G>T (n.1170-37G>T)
| |
| 20 | g.44118661del | CA2652956060 | JPH2 | c.1170-37del (n.1170-37del)
| gnomAD v4 |
| 20 | g.44118660_44118661insATACACAAAGCAATGTTTTAGAGTATGAAGTGATGAGAGAGAAAAATGCA | CA2652956061 | JPH2 | c.1170-38_1170-37insTGCATTTTTCTCTCTCATCACTTCATACTCTAAAACATTGCTTTGTGTAT (n.1170-38_1170-37insTGCATTTTTCTCTCTCATCACTTCATACTCTAAAACATTGCTTTGTGTAT)
| gnomAD v4 |
| 20 | g.44118662A>G | CA2652956062 | JPH2 | c.1170-39T>C (n.1170-39T>C)
| gnomAD v4 |
| 20 | g.44118663G>A | CA2365626511 | JPH2 | c.1170-40C>T (n.1170-40C>T)
| dbSNP gnomAD v4 |
| 20 | g.44118663G= | CA2365626510 | JPH2 | c.1170-40C= (n.1170-40C=)
| |
| 20 | g.44118663G>T | CA2652956063 | JPH2 | c.1170-40C>A (n.1170-40C>A)
| gnomAD v4 |
| 20 | g.44118664A= | CA2365626512 | JPH2 | c.1170-41T= (n.1170-41T=)
| |
| 20 | g.44118664A>G | CA9868714 | JPH2 | c.1170-41T>C (n.1170-41T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44118669del | CA2652956064 | JPH2 | c.1170-45del (n.1170-45del)
| gnomAD v4 |
| 20 | g.44118669C>A | CA2365626514 | JPH2 | c.1170-46G>T (n.1170-46G>T)
| dbSNP |
| 20 | g.44118669C= | CA2365626513 | JPH2 | c.1170-46G= (n.1170-46G=)
| |
| 20 | g.44118669C>G | CA2736883118 | JPH2 | c.1170-46G>C (n.1170-46G>C)
| dbSNP |
| 20 | g.44118669C>T | CA2652956065 | JPH2 | c.1170-46G>A (n.1170-46G>A)
| gnomAD v4 |
| 20 | g.44118670A>G | CA2577404032 | JPH2 | c.1170-47T>C (n.1170-47T>C)
| gnomAD v4 |
| 20 | g.44118671G>A | CA1017794608 | JPH2 | c.1170-48C>T (n.1170-48C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118671G= | CA2365626515 | JPH2 | c.1170-48C= (n.1170-48C=)
| |
| 20 | g.44118671G>T | CA2652956066 | JPH2 | c.1170-48C>A (n.1170-48C>A)
| gnomAD v4 |
| 20 | g.44118672C= | CA2365626516 | JPH2 | c.1170-49G= (n.1170-49G=)
| |
| 20 | g.44118672C>G | CA635961151 | JPH2 | c.1170-49G>C (n.1170-49G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118672C>T | CA2652956067 | JPH2 | c.1170-49G>A (n.1170-49G>A)
| gnomAD v4 |
| 20 | g.44118673C>A | CA2652956068 | JPH2 | c.1170-50G>T (n.1170-50G>T)
| gnomAD v4 |
| 20 | g.44118673C= | CA2365626517 | JPH2 | c.1170-50G= (n.1170-50G=)
| |
| 20 | g.44118673C>T | CA635961153 | JPH2 | c.1170-50G>A (n.1170-50G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118675T>C | CA314643262 | JPH2 | c.1170-52A>G (n.1170-52A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118675T= | CA2365626518 | JPH2 | c.1170-52A= (n.1170-52A=)
| |
| 20 | g.44118676C>A | CA2652956069 | JPH2 | c.1170-53G>T (n.1170-53G>T)
| gnomAD v4 |
| 20 | g.44118677T>C | CA2365626520 | JPH2 | c.1170-54A>G (n.1170-54A>G)
| dbSNP gnomAD v4 |
| 20 | g.44118677T= | CA2365626519 | JPH2 | c.1170-54A= (n.1170-54A=)
| |
| 20 | g.44118678G>C | CA2652956070 | JPH2 | c.1170-55C>G (n.1170-55C>G)
| gnomAD v4 |
| 20 | g.44118678G= | CA2365626521 | JPH2 | c.1170-55C= (n.1170-55C=)
| |
| 20 | g.44118678G>T | CA2652956071 | JPH2 | c.1170-55C>A (n.1170-55C>A)
| gnomAD v4 |
| 20 | g.44118679C>A | CA2652956072 | JPH2 | c.1170-56G>T (n.1170-56G>T)
| gnomAD v4 |
| 20 | g.44118679C>T | CA2577404033 | JPH2 | c.1170-56G>A (n.1170-56G>A)
| gnomAD v4 |
| 20 | g.44118682_44118690dup | CA1017794612 | JPH2 | c.1170-64_1170-56dup (n.1170-64_1170-56dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44118680C= | CA2365626522 | JPH2 | c.1170-57G= (n.1170-57G=)
| |
| 20 | g.44118680C>T | CA744698888 | JPH2 | c.1170-57G>A (n.1170-57G>A)
| dbSNP gnomAD v3 gnomAD v4 |
