| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209630711G>A | CA344593792 | LAMB3 | c.847C>T (p.His283Tyr) c.655C>T (p.His219Tyr) | |
| 1 | g.209630711G>C | CA344593794 | LAMB3 | c.847C>G (p.His283Asp) c.655C>G (p.His219Asp) | |
| 1 | g.209630711G>T | CA344593795 | LAMB3 | c.847C>A (p.His283Asn) c.655C>A (p.His219Asn) | |
| 1 | g.209630712C>A | CA344593797 | LAMB3 | c.846G>T (p.Gln282His) c.654G>T (p.Gln218His) | dbSNP |
| 1 | g.209630712C= | CA2484301213 | LAMB3 | c.846G= (p.Gln282=) c.654G= (p.Gln218=) | |
| 1 | g.209630712C>G | CA344593799 | LAMB3 | c.846G>C (p.Gln282His) c.654G>C (p.Gln218His) | |
| 1 | g.209630712C>T | CA423032463 | LAMB3 | c.846G>A (p.Gln282=) c.654G>A (p.Gln218=) | |
| 1 | g.209630713T>A | CA344593801 | LAMB3 | c.845A>T (p.Gln282Leu) c.653A>T (p.Gln218Leu) | |
| 1 | g.209630713T>C | CA344593803 | LAMB3 | c.845A>G (p.Gln282Arg) c.653A>G (p.Gln218Arg) | |
| 1 | g.209630713T>G | CA344593805 | LAMB3 | c.845A>C (p.Gln282Pro) c.653A>C (p.Gln218Pro) | |
| 1 | g.209630714G>A | CA344593807 | LAMB3 | c.844C>T (p.Gln282Ter) c.652C>T (p.Gln218Ter) | |
| 1 | g.209630714G>C | CA344593809 | LAMB3 | c.844C>G (p.Gln282Glu) c.652C>G (p.Gln218Glu) | |
| 1 | g.209630714G>T | CA344593811 | LAMB3 | c.844C>A (p.Gln282Lys) c.652C>A (p.Gln218Lys) | |
| 1 | g.209630715G>A | CA423032464 | LAMB3 | c.843C>T (p.Cys281=) c.651C>T (p.Cys217=) | |
| 1 | g.209630715G>C | CA344593812 | LAMB3 | c.843C>G (p.Cys281Trp) c.651C>G (p.Cys217Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630715G= | CA2484301214 | LAMB3 | c.843C= (p.Cys281=) c.651C= (p.Cys217=) | |
| 1 | g.209630715G>T | CA344593814 | LAMB3 | c.843C>A (p.Cys281Ter) c.651C>A (p.Cys217Ter) | |
| 1 | g.209630716C>A | CA344593820 | LAMB3 | c.842G>T (p.Cys281Phe) c.650G>T (p.Cys217Phe) | |
| 1 | g.209630716C>G | CA344593818 | LAMB3 | c.842G>C (p.Cys281Ser) c.650G>C (p.Cys217Ser) | |
| 1 | g.209630716C>T | CA344593816 | LAMB3 | c.842G>A (p.Cys281Tyr) c.650G>A (p.Cys217Tyr) | |
| 1 | g.209630717A>C | CA344593822 | LAMB3 | c.841T>G (p.Cys281Gly) c.649T>G (p.Cys217Gly) | |
| 1 | g.209630717A>G | CA344593823 | LAMB3 | c.841T>C (p.Cys281Arg) c.649T>C (p.Cys217Arg) | |
| 1 | g.209630717A>T | CA344593825 | LAMB3 | c.841T>A (p.Cys281Ser) c.649T>A (p.Cys217Ser) | |
| 1 | g.209630718G>A | CA423032465 | LAMB3 | c.840C>T (p.Val280=) c.648C>T (p.Val216=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630718G>C | CA423032466 | LAMB3 | c.840C>G (p.Val280=) c.648C>G (p.Val216=) | gnomAD v4 |
| 1 | g.209630718G= | CA2484301215 | LAMB3 | c.840C= (p.Val280=) c.648C= (p.Val216=) | |
| 1 | g.209630718G>T | CA423032467 | LAMB3 | c.840C>A (p.Val280=) c.648C>A (p.Val216=) | |
| 1 | g.209630719A>C | CA344593827 | LAMB3 | c.839T>G (p.Val280Gly) c.647T>G (p.Val216Gly) | |
| 1 | g.209630719A>G | CA344593829 | LAMB3 | c.839T>C (p.Val280Ala) c.647T>C (p.Val216Ala) | |
| 1 | g.209630719A>T | CA344593831 | LAMB3 | c.839T>A (p.Val280Asp) c.647T>A (p.Val216Asp) | |
| 1 | g.209630720C>A | CA344593833 | LAMB3 | c.838G>T (p.Val280Phe) c.646G>T (p.Val216Phe) | |
| 1 | g.209630720C>G | CA344593834 | LAMB3 | c.838G>C (p.Val280Leu) c.646G>C (p.Val216Leu) | |
| 1 | g.209630720C>T | CA344593836 | LAMB3 | c.838G>A (p.Val280Ile) c.646G>A (p.Val216Ile) | gnomAD v4 COSMIC |
| 1 | g.209630721A>C | CA344593838 | LAMB3 | c.837T>G (p.Cys279Trp) c.645T>G (p.Cys215Trp) | |
| 1 | g.209630721A>G | CA423032468 | LAMB3 | c.837T>C (p.Cys279=) c.645T>C (p.Cys215=) | |
| 1 | g.209630721A>T | CA344593840 | LAMB3 | c.837T>A (p.Cys279Ter) c.645T>A (p.Cys215Ter) | |
| 1 | g.209630722C>A | CA344593842 | LAMB3 | c.836G>T (p.Cys279Phe) c.644G>T (p.Cys215Phe) | |
| 1 | g.209630722C= | CA2484301216 | LAMB3 | c.836G= (p.Cys279=) c.644G= (p.Cys215=) | |
| 1 | g.209630722C>G | CA344593844 | LAMB3 | c.836G>C (p.Cys279Ser) c.644G>C (p.Cys215Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630722C>T | CA344593846 | LAMB3 | c.836G>A (p.Cys279Tyr) c.644G>A (p.Cys215Tyr) | |
| 1 | g.209630723A>C | CA344593852 | LAMB3 | c.835T>G (p.Cys279Gly) c.643T>G (p.Cys215Gly) | |
| 1 | g.209630723A>G | CA344593854 | LAMB3 | c.835T>C (p.Cys279Arg) c.643T>C (p.Cys215Arg) | |
| 1 | g.209630723A>T | CA344593851 | LAMB3 | c.835T>A (p.Cys279Ser) c.643T>A (p.Cys215Ser) | |
| 1 | g.209630724G>A | CA423032469 | LAMB3 | c.834C>T (p.Val278=) c.642C>T (p.Val214=) | ClinVar gnomAD v4 |
| 1 | g.209630724G>C | CA423032470 | LAMB3 | c.834C>G (p.Val278=) c.642C>G (p.Val214=) | ClinVar dbSNP |
| 1 | g.209630724G>T | CA423032471 | LAMB3 | c.834C>A (p.Val278=) c.642C>A (p.Val214=) | |
| 1 | g.209630725A>C | CA344593856 | LAMB3 | c.833T>G (p.Val278Gly) c.641T>G (p.Val214Gly) | |
| 1 | g.209630725A>G | CA344593857 | LAMB3 | c.833T>C (p.Val278Ala) c.641T>C (p.Val214Ala) | |
| 1 | g.209630725A>T | CA344593859 | LAMB3 | c.833T>A (p.Val278Asp) c.641T>A (p.Val214Asp) | |
| 1 | g.209630726C>A | CA344593860 | LAMB3 | c.832G>T (p.Val278Phe) c.640G>T (p.Val214Phe) | |
| 1 | g.209630726C= | CA1146299041 | LAMB3 | c.832G= (p.Val278=) c.640G= (p.Val214=) | |
| 1 | g.209630726C>G | CA36758938 | LAMB3 | c.832G>C (p.Val278Leu) c.640G>C (p.Val214Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630726C>T | CA344593863 | LAMB3 | c.832G>A (p.Val278Ile) c.640G>A (p.Val214Ile) | gnomAD v4 |
| 1 | g.209630727A= | CA2484301217 | LAMB3 | c.831T= (p.Asp277=) c.639T= (p.Asp213=) | |
| 1 | g.209630727A>C | CA344593864 | LAMB3 | c.831T>G (p.Asp277Glu) c.639T>G (p.Asp213Glu) | gnomAD v4 |
| 1 | g.209630727A>G | CA423032472 | LAMB3 | c.831T>C (p.Asp277=) c.639T>C (p.Asp213=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209630727A>T | CA344593866 | LAMB3 | c.831T>A (p.Asp277Glu) c.639T>A (p.Asp213Glu) | |
| 1 | g.209630728T>A | CA344593868 | LAMB3 | c.830A>T (p.Asp277Val) c.638A>T (p.Asp213Val) | |
| 1 | g.209630728T>C | CA344593869 | LAMB3 | c.830A>G (p.Asp277Gly) c.638A>G (p.Asp213Gly) | gnomAD v4 |
| 1 | g.209630728T>G | CA344593871 | LAMB3 | c.830A>C (p.Asp277Ala) c.638A>C (p.Asp213Ala) | |
| 1 | g.209630728_209630729delinsTC | CA2484301218 | LAMB3 | c.829_830delinsGA (p.Asp277=) c.637_638delinsGA (p.Asp213=) | |
| 1 | g.209630729del | CA528652862 | LAMB3 | c.829del (p.Asp277MetfsTer?) c.637del (p.Asp213MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630729C>A | CA344593874 | LAMB3 | c.829G>T (p.Asp277Tyr) c.637G>T (p.Asp213Tyr) | |
| 1 | g.209630729C= | CA1143700449 | LAMB3 | c.829G= (p.Asp277=) c.637G= (p.Asp213=) | |
| 1 | g.209630729C>G | CA344593875 | LAMB3 | c.829G>C (p.Asp277His) c.637G>C (p.Asp213His) | dbSNP |
| 1 | g.209630729C>T | CA1375807 | LAMB3 | c.829G>A (p.Asp277Asn) c.637G>A (p.Asp213Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630730G>A | CA36758940 | LAMB3 | c.828C>T (p.His276=) c.636C>T (p.His212=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630730G>C | CA1375808 | LAMB3 | c.828C>G (p.His276Gln) c.636C>G (p.His212Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630730G= | CA1142527123 | LAMB3 | c.828C= (p.His276=) c.636C= (p.His212=) | |
| 1 | g.209630730G>T | CA344593880 | LAMB3 | c.828C>A (p.His276Gln) c.636C>A (p.His212Gln) | |
| 1 | g.209630731T>A | CA344593882 | LAMB3 | c.827A>T (p.His276Leu) c.635A>T (p.His212Leu) | |
| 1 | g.209630731T>C | CA344593884 | LAMB3 | c.827A>G (p.His276Arg) c.635A>G (p.His212Arg) | |
| 1 | g.209630731T>G | CA344593886 | LAMB3 | c.827A>C (p.His276Pro) c.635A>C (p.His212Pro) | |
| 1 | g.209630732G>A | CA344593888 | LAMB3 | c.826C>T (p.His276Tyr) c.634C>T (p.His212Tyr) | |
| 1 | g.209630732G>C | CA344593890 | LAMB3 | c.826C>G (p.His276Asp) c.634C>G (p.His212Asp) | |
| 1 | g.209630732G>T | CA344593892 | LAMB3 | c.826C>A (p.His276Asn) c.634C>A (p.His212Asn) | |
| 1 | g.209630733G>A | CA423032474 | LAMB3 | c.825C>T (p.Val275=) c.633C>T (p.Val211=) | dbSNP gnomAD v4 |
| 1 | g.209630733G>C | CA423032475 | LAMB3 | c.825C>G (p.Val275=) c.633C>G (p.Val211=) | |
| 1 | g.209630733G= | CA2484301219 | LAMB3 | c.825C= (p.Val275=) c.633C= (p.Val211=) | |
| 1 | g.209630733G>T | CA423032476 | LAMB3 | c.825C>A (p.Val275=) c.633C>A (p.Val211=) | gnomAD v4 |
| 1 | g.209630734A= | CA2484301220 | LAMB3 | c.824T= (p.Val275=) c.632T= (p.Val211=) | |
| 1 | g.209630734A>C | CA344593898 | LAMB3 | c.824T>G (p.Val275Gly) c.632T>G (p.Val211Gly) | |
| 1 | g.209630734A>G | CA1375809 | LAMB3 | c.824T>C (p.Val275Ala) c.632T>C (p.Val211Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630734A>T | CA344593900 | LAMB3 | c.824T>A (p.Val275Asp) c.632T>A (p.Val211Asp) | |
| 1 | g.209630735C>A | CA344593903 | LAMB3 | c.823G>T (p.Val275Phe) c.631G>T (p.Val211Phe) | gnomAD v4 |
| 1 | g.209630735C>G | CA344593904 | LAMB3 | c.823G>C (p.Val275Leu) c.631G>C (p.Val211Leu) | gnomAD v4 |
| 1 | g.209630735C>T | CA344593906 | LAMB3 | c.823G>A (p.Val275Ile) c.631G>A (p.Val211Ile) | |
| 1 | g.209630736C>A | CA1375810 | LAMB3 | c.823-1G>T (n.823-1G>T) c.631-1G>T (n.631-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209630736C= | CA2484301221 | LAMB3 | c.823-1G= (n.823-1G=) c.631-1G= (n.631-1G=) | |
| 1 | g.209630736C>G | CA344593910 | LAMB3 | c.823-1G>C (n.823-1G>C) c.631-1G>C (n.631-1G>C) | |
| 1 | g.209630736C>T | CA344593909 | LAMB3 | c.823-1G>A (n.823-1G>A) c.631-1G>A (n.631-1G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209630737T>A | CA344593916 | LAMB3 | c.823-2A>T (n.823-2A>T) c.631-2A>T (n.631-2A>T) | ClinVar dbSNP |
| 1 | g.209630737T>C | CA344593914 | LAMB3 | c.823-2A>G (n.823-2A>G) c.631-2A>G (n.631-2A>G) | gnomAD v4 |
| 1 | g.209630737T>G | CA344593918 | LAMB3 | c.823-2A>C (n.823-2A>C) c.631-2A>C (n.631-2A>C) | ClinVar |
| 1 | g.209630740G>A | CA2574004104 | LAMB3 | c.823-5C>T (n.823-5C>T) c.631-5C>T (n.631-5C>T) | gnomAD v4 |
| 1 | g.209630740G>C | CA2650323803 | LAMB3 | c.823-5C>G (n.823-5C>G) c.631-5C>G (n.631-5C>G) | gnomAD v4 |
| 1 | g.209630741A>G | CA2650323804 | LAMB3 | c.823-6T>C (n.823-6T>C) c.631-6T>C (n.631-6T>C) | gnomAD v4 |
| 1 | g.209630742G>A | CA2499214426 | LAMB3 | c.823-7C>T (n.823-7C>T) c.631-7C>T (n.631-7C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209630742G>C | CA1375811 | LAMB3 | c.823-7C>G (n.823-7C>G) c.631-7C>G (n.631-7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630742G= | CA1148460165 | LAMB3 | c.823-7C= (n.823-7C=) c.631-7C= (n.631-7C=) | |
| 1 | g.209630742G>T | CA2650323808 | LAMB3 | c.823-7C>A (n.823-7C>A) c.631-7C>A (n.631-7C>A) | gnomAD v4 |
| 1 | g.209630746del | CA2580062017 | LAMB3 | c.823-7del (n.823-7del) c.631-7del (n.631-7del) | ClinVar gnomAD v4 |
| 1 | g.209630743G>A | CA2574004110 | LAMB3 | c.823-8C>T (n.823-8C>T) c.631-8C>T (n.631-8C>T) | ClinVar gnomAD v4 |
| 1 | g.209630743G>C | CA2580062019 | LAMB3 | c.823-8C>G (n.823-8C>G) c.631-8C>G (n.631-8C>G) | ClinVar |
| 1 | g.209630744G>A | CA2650323813 | LAMB3 | c.823-9C>T (n.823-9C>T) c.631-9C>T (n.631-9C>T) | gnomAD v4 |
| 1 | g.209630744G>C | CA528652863 | LAMB3 | c.823-9C>G (n.823-9C>G) c.631-9C>G (n.631-9C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630744G= | CA2484301222 | LAMB3 | c.823-9C= (n.823-9C=) c.631-9C= (n.631-9C=) | |
| 1 | g.209630744G>T | CA528652864 | LAMB3 | c.823-9C>A (n.823-9C>A) c.631-9C>A (n.631-9C>A) | dbSNP gnomAD v2 |
| 1 | g.209630745G= | CA2484301223 | LAMB3 | c.823-10C= (n.823-10C=) c.631-10C= (n.631-10C=) | |
| 1 | g.209630745G>T | CA528652865 | LAMB3 | c.823-10C>A (n.823-10C>A) c.631-10C>A (n.631-10C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630746G>A | CA528652866 | LAMB3 | c.823-11C>T (n.823-11C>T) c.631-11C>T (n.631-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630746G>C | CA2484301224 | LAMB3 | c.823-11C>G (n.823-11C>G) c.631-11C>G (n.631-11C>G) | ClinVar dbSNP |
| 1 | g.209630746G= | CA2484301225 | LAMB3 | c.823-11C= (n.823-11C=) c.631-11C= (n.631-11C=) | |
| 1 | g.209630746G>T | CA2650323815 | LAMB3 | c.823-11C>A (n.823-11C>A) c.631-11C>A (n.631-11C>A) | ClinVar gnomAD v4 |
| 1 | g.209630748C= | CA2484301226 | LAMB3 | c.823-13G= (n.823-13G=) c.631-13G= (n.631-13G=) | |
| 1 | g.209630748C>T | CA36758950 | LAMB3 | c.823-13G>A (n.823-13G>A) c.631-13G>A (n.631-13G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630749C>T | CA2574004181 | LAMB3 | c.823-14G>A (n.823-14G>A) c.631-14G>A (n.631-14G>A) | gnomAD v4 |
| 1 | g.209630750G>A | CA1375812 | LAMB3 | c.823-15C>T (n.823-15C>T) c.631-15C>T (n.631-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630750G>C | CA2484301227 | LAMB3 | c.823-15C>G (n.823-15C>G) c.631-15C>G (n.631-15C>G) | dbSNP |
| 1 | g.209630750G= | CA1140044434 | LAMB3 | c.823-15C= (n.823-15C=) c.631-15C= (n.631-15C=) | |
| 1 | g.209630750G>T | CA2484301228 | LAMB3 | c.823-15C>A (n.823-15C>A) c.631-15C>A (n.631-15C>A) | dbSNP gnomAD v4 |
| 1 | g.209630751T>A | CA36758953 | LAMB3 | c.823-16A>T (n.823-16A>T) c.631-16A>T (n.631-16A>T) | dbSNP |
| 1 | g.209630751T>C | CA2650323825 | LAMB3 | c.823-16A>G (n.823-16A>G) c.631-16A>G (n.631-16A>G) | ClinVar gnomAD v4 |
| 1 | g.209630751T= | CA2484301229 | LAMB3 | c.823-16A= (n.823-16A=) c.631-16A= (n.631-16A=) | |
| 1 | g.209630754G>T | CA2650323827 | LAMB3 | c.823-19C>A (n.823-19C>A) c.631-19C>A (n.631-19C>A) | gnomAD v4 |
| 1 | g.209630755C>A | CA528652867 | LAMB3 | c.823-20G>T (n.823-20G>T) c.631-20G>T (n.631-20G>T) | dbSNP gnomAD v2 |
| 1 | g.209630755C= | CA2484301230 | LAMB3 | c.823-20G= (n.823-20G=) c.631-20G= (n.631-20G=) | |
| 1 | g.209630755C>T | CA2484301231 | LAMB3 | c.823-20G>A (n.823-20G>A) c.631-20G>A (n.631-20G>A) | dbSNP gnomAD v4 |
| 1 | g.209630756C= | CA2484301232 | LAMB3 | c.823-21G= (n.823-21G=) c.631-21G= (n.631-21G=) | |
| 1 | g.209630756C>G | CA528652868 | LAMB3 | c.823-21G>C (n.823-21G>C) c.631-21G>C (n.631-21G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630758T>C | CA2650323828 | LAMB3 | c.823-23A>G (n.823-23A>G) c.631-23A>G (n.631-23A>G) | gnomAD v4 |
| 1 | g.209630760A= | CA2484301233 | LAMB3 | c.823-25T= (n.823-25T=) c.631-25T= (n.631-25T=) | |
| 1 | g.209630760A>G | CA2484301234 | LAMB3 | c.823-25T>C (n.823-25T>C) c.631-25T>C (n.631-25T>C) | dbSNP |
| 1 | g.209630761G>A | CA36758954 | LAMB3 | c.823-26C>T (n.823-26C>T) c.631-26C>T (n.631-26C>T) | dbSNP |
| 1 | g.209630761G= | CA2484301235 | LAMB3 | c.823-26C= (n.823-26C=) c.631-26C= (n.631-26C=) | |
| 1 | g.209630762G>A | CA1375813 | LAMB3 | c.823-27C>T (n.823-27C>T) c.631-27C>T (n.631-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630762G>C | CA528652869 | LAMB3 | c.823-27C>G (n.823-27C>G) c.631-27C>G (n.631-27C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630762G= | CA2484301236 | LAMB3 | c.823-27C= (n.823-27C=) c.631-27C= (n.631-27C=) | |
| 1 | g.209630763A>G | CA2650323833 | LAMB3 | c.823-28T>C (n.823-28T>C) c.631-28T>C (n.631-28T>C) | gnomAD v4 |
| 1 | g.209630764G>A | CA36758957 | LAMB3 | c.823-29C>T (n.823-29C>T) c.631-29C>T (n.631-29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630764G>C | CA2484301238 | LAMB3 | c.823-29C>G (n.823-29C>G) c.631-29C>G (n.631-29C>G) | dbSNP |
| 1 | g.209630764G= | CA2484301237 | LAMB3 | c.823-29C= (n.823-29C=) c.631-29C= (n.631-29C=) | |
| 1 | g.209630766A= | CA1148247751 | LAMB3 | c.823-31T= (n.823-31T=) c.631-31T= (n.631-31T=) | |
| 1 | g.209630766A>T | CA1375814 | LAMB3 | c.823-31T>A (n.823-31T>A) c.631-31T>A (n.631-31T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630767del | CA2574004271 | LAMB3 | c.823-31del (n.823-31del) c.631-31del (n.631-31del) | |
| 1 | g.209630767A= | CA2484301239 | LAMB3 | c.823-32T= (n.823-32T=) c.631-32T= (n.631-32T=) | |
| 1 | g.209630767A>C | CA730834496 | LAMB3 | c.823-32T>G (n.823-32T>G) c.631-32T>G (n.631-32T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630767A>G | CA528652870 | LAMB3 | c.823-32T>C (n.823-32T>C) c.631-32T>C (n.631-32T>C) | dbSNP gnomAD v2 |
| 1 | g.209630768T>A | CA730834499 | LAMB3 | c.823-33A>T (n.823-33A>T) c.631-33A>T (n.631-33A>T) | dbSNP |
| 1 | g.209630768T= | CA2484301240 | LAMB3 | c.823-33A= (n.823-33A=) c.631-33A= (n.631-33A=) | |
| 1 | g.209630769del | CA2574004354 | LAMB3 | c.823-34del (n.823-34del) c.631-34del (n.631-34del) | |
| 1 | g.209630769C>A | CA2650323837 | LAMB3 | c.823-34G>T (n.823-34G>T) c.631-34G>T (n.631-34G>T) | gnomAD v4 |
| 1 | g.209630772_209630778del | CA2650323838 | LAMB3 | c.823-41_823-35del (n.823-41_823-35del) c.631-41_631-35del (n.631-41_631-35del) | gnomAD v4 |
| 1 | g.209630771A= | CA2484301241 | LAMB3 | c.823-36T= (n.823-36T=) c.631-36T= (n.631-36T=) | |
| 1 | g.209630771A>C | CA36758963 | LAMB3 | c.823-36T>G (n.823-36T>G) c.631-36T>G (n.631-36T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630771A>G | CA2650323841 | LAMB3 | c.823-36T>C (n.823-36T>C) c.631-36T>C (n.631-36T>C) | gnomAD v4 |
| 1 | g.209630772C>A | CA2574004362 | LAMB3 | c.823-37G>T (n.823-37G>T) c.631-37G>T (n.631-37G>T) | |
| 1 | g.209630774A= | CA2484301242 | LAMB3 | c.823-39T= (n.823-39T=) c.631-39T= (n.631-39T=) | |
| 1 | g.209630774A>G | CA1375815 | LAMB3 | c.823-39T>C (n.823-39T>C) c.631-39T>C (n.631-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209630777_209630779del | CA2650323842 | LAMB3 | c.823-41_823-39del (n.823-41_823-39del) c.631-41_631-39del (n.631-41_631-39del) | gnomAD v4 |
| 1 | g.209630779G>A | CA1375816 | LAMB3 | c.823-44C>T (n.823-44C>T) c.631-44C>T (n.631-44C>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.209630779G= | CA2484301243 | LAMB3 | c.823-44C= (n.823-44C=) c.631-44C= (n.631-44C=) | |
| 1 | g.209630779G>T | CA2650323843 | LAMB3 | c.823-44C>A (n.823-44C>A) c.631-44C>A (n.631-44C>A) | gnomAD v4 |
| 1 | g.209630780G>A | CA2574004370 | LAMB3 | c.823-45C>T (n.823-45C>T) c.631-45C>T (n.631-45C>T) | gnomAD v4 |
| 1 | g.209630780G>C | CA1375817 | LAMB3 | c.823-45C>G (n.823-45C>G) c.631-45C>G (n.631-45C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630780G= | CA1144184404 | LAMB3 | c.823-45C= (n.823-45C=) c.631-45C= (n.631-45C=) | |
| 1 | g.209630781G>T | CA646386188 | LAMB3 | c.823-46C>A (n.823-46C>A) c.631-46C>A (n.631-46C>A) | gnomAD v4 COSMIC |
| 1 | g.209630782C= | CA2484301244 | LAMB3 | c.823-47G= (n.823-47G=) c.631-47G= (n.631-47G=) | |
| 1 | g.209630782C>T | CA730834512 | LAMB3 | c.823-47G>A (n.823-47G>A) c.631-47G>A (n.631-47G>A) | dbSNP |
| 1 | g.209630784C= | CA2484301245 | LAMB3 | c.823-49G= (n.823-49G=) c.631-49G= (n.631-49G=) | |
| 1 | g.209630784C>T | CA2484301246 | LAMB3 | c.823-49G>A (n.823-49G>A) c.631-49G>A (n.631-49G>A) | dbSNP gnomAD v4 |
| 1 | g.209630785del | CA2650323845 | LAMB3 | c.823-49del (n.823-49del) c.631-49del (n.631-49del) | gnomAD v4 |
| 1 | g.209630785C>A | CA2650323847 | LAMB3 | c.823-50G>T (n.823-50G>T) c.631-50G>T (n.631-50G>T) | gnomAD v4 |
| 1 | g.209630785C>G | CA2650323848 | LAMB3 | c.823-50G>C (n.823-50G>C) c.631-50G>C (n.631-50G>C) | gnomAD v4 |
| 1 | g.209630786del | CA2574004379 | LAMB3 | c.823-51del (n.823-51del) c.631-51del (n.631-51del) | |
| 1 | g.209630787G>A | CA2650323849 | LAMB3 | c.823-52C>T (n.823-52C>T) c.631-52C>T (n.631-52C>T) | gnomAD v4 |
| 1 | g.209630787G>T | CA2650323850 | LAMB3 | c.823-52C>A (n.823-52C>A) c.631-52C>A (n.631-52C>A) | gnomAD v4 |
| 1 | g.209630789del | CA2574004381 | LAMB3 | c.823-52del (n.823-52del) c.631-52del (n.631-52del) | |
| 1 | g.209630789G>A | CA2484301248 | LAMB3 | c.823-54C>T (n.823-54C>T) c.631-54C>T (n.631-54C>T) | dbSNP gnomAD v4 |
| 1 | g.209630789G= | CA2484301247 | LAMB3 | c.823-54C= (n.823-54C=) c.631-54C= (n.631-54C=) | |
| 1 | g.209630789G>T | CA2650323851 | LAMB3 | c.823-54C>A (n.823-54C>A) c.631-54C>A (n.631-54C>A) | gnomAD v4 |
| 1 | g.209630790A>G | CA2650323852 | LAMB3 | c.823-55T>C (n.823-55T>C) c.631-55T>C (n.631-55T>C) | gnomAD v4 |
| 1 | g.209630792G>T | CA2650323854 | LAMB3 | c.823-57C>A (n.823-57C>A) c.631-57C>A (n.631-57C>A) | gnomAD v4 |
| 1 | g.209630793del | CA2650323853 | LAMB3 | c.823-57del (n.823-57del) c.631-57del (n.631-57del) | gnomAD v4 |
| 1 | g.209630793G= | CA1143494947 | LAMB3 | c.823-58C= (n.823-58C=) c.631-58C= (n.631-58C=) | |
| 1 | g.209630793G>T | CA36758972 | LAMB3 | c.823-58C>A (n.823-58C>A) c.631-58C>A (n.631-58C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630794A= | CA2484301249 | LAMB3 | c.823-59T= (n.823-59T=) c.631-59T= (n.631-59T=) | |
| 1 | g.209630794A>C | CA2747563246 | LAMB3 | c.823-59T>G (n.823-59T>G) c.631-59T>G (n.631-59T>G) | |
| 1 | g.209630795C= | CA2484301250 | LAMB3 | c.823-60G= (n.823-60G=) c.631-60G= (n.631-60G=) | |
| 1 | g.209630795C>T | CA730834515 | LAMB3 | c.823-60G>A (n.823-60G>A) c.631-60G>A (n.631-60G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630797_209630800dup | CA2484301251 | LAMB3 | c.823-63_823-60dup (n.823-63_823-60dup) c.631-63_631-60dup (n.631-63_631-60dup) | dbSNP |
| 1 | g.209630796C>A | CA2650323857 | LAMB3 | c.823-61G>T (n.823-61G>T) c.631-61G>T (n.631-61G>T) | gnomAD v4 |
| 1 | g.209630796C= | CA2484301252 | LAMB3 | c.823-61G= (n.823-61G=) c.631-61G= (n.631-61G=) | |
| 1 | g.209630796C>T | CA36758975 | LAMB3 | c.823-61G>A (n.823-61G>A) c.631-61G>A (n.631-61G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630798G>A | CA2574004503 | LAMB3 | c.823-63C>T (n.823-63C>T) c.631-63C>T (n.631-63C>T) | gnomAD v4 |
| 1 | g.209630798G>T | CA2650323858 | LAMB3 | c.823-63C>A (n.823-63C>A) c.631-63C>A (n.631-63C>A) | gnomAD v4 |
| 1 | g.209630799C>A | CA2650323860 | LAMB3 | c.823-64G>T (n.823-64G>T) c.631-64G>T (n.631-64G>T) | gnomAD v4 |
| 1 | g.209630799C>T | CA2574004505 | LAMB3 | c.823-64G>A (n.823-64G>A) c.631-64G>A (n.631-64G>A) | gnomAD v4 |
| 1 | g.209630801del | CA2650323859 | LAMB3 | c.823-64del (n.823-64del) c.631-64del (n.631-64del) | gnomAD v4 |
| 1 | g.209630800C>A | CA2650323862 | LAMB3 | c.823-65G>T (n.823-65G>T) c.631-65G>T (n.631-65G>T) | gnomAD v4 |
| 1 | g.209630801C>A | CA2574004509 | LAMB3 | c.823-66G>T (n.823-66G>T) c.631-66G>T (n.631-66G>T) | gnomAD v4 |
| 1 | g.209630801C= | CA2484301253 | LAMB3 | c.823-66G= (n.823-66G=) c.631-66G= (n.631-66G=) | |
| 1 | g.209630801C>T | CA528652871 | LAMB3 | c.823-66G>A (n.823-66G>A) c.631-66G>A (n.631-66G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630804T>C | CA2650323864 | LAMB3 | c.823-69A>G (n.823-69A>G) c.631-69A>G (n.631-69A>G) | gnomAD v4 |
| 1 | g.209630805G>A | CA2650323865 | LAMB3 | c.823-70C>T (n.823-70C>T) c.631-70C>T (n.631-70C>T) | gnomAD v4 |
| 1 | g.209630805G>T | CA2650323866 | LAMB3 | c.823-70C>A (n.823-70C>A) c.631-70C>A (n.631-70C>A) | gnomAD v4 |
| 1 | g.209630806C>A | CA730834530 | LAMB3 | c.823-71G>T (n.823-71G>T) c.631-71G>T (n.631-71G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630806C= | CA2484301254 | LAMB3 | c.823-71G= (n.823-71G=) c.631-71G= (n.631-71G=) | |
| 1 | g.209630806C>T | CA2650323867 | LAMB3 | c.823-71G>A (n.823-71G>A) c.631-71G>A (n.631-71G>A) | gnomAD v4 |
| 1 | g.209630807C>A | CA2650323868 | LAMB3 | c.823-72G>T (n.823-72G>T) c.631-72G>T (n.631-72G>T) | gnomAD v4 |
| 1 | g.209630807C= | CA2484301255 | LAMB3 | c.823-72G= (n.823-72G=) c.631-72G= (n.631-72G=) | |
| 1 | g.209630807C>T | CA528652872 | LAMB3 | c.823-72G>A (n.823-72G>A) c.631-72G>A (n.631-72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630808C>T | CA2650323870 | LAMB3 | c.823-73G>A (n.823-73G>A) c.631-73G>A (n.631-73G>A) | gnomAD v4 |
| 1 | g.209630809T>C | CA2650323871 | LAMB3 | c.823-74A>G (n.823-74A>G) c.631-74A>G (n.631-74A>G) | gnomAD v4 |
| 1 | g.209630810C>A | CA2650323873 | LAMB3 | c.823-75G>T (n.823-75G>T) c.631-75G>T (n.631-75G>T) | gnomAD v4 |
| 1 | g.209630810C= | CA2484301256 | LAMB3 | c.823-75G= (n.823-75G=) c.631-75G= (n.631-75G=) | |
| 1 | g.209630810C>T | CA730834536 | LAMB3 | c.823-75G>A (n.823-75G>A) c.631-75G>A (n.631-75G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630811T>C | CA2574004519 | LAMB3 | c.823-76A>G (n.823-76A>G) c.631-76A>G (n.631-76A>G) | gnomAD v4 |