OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.183127304T>A | CA343674744 | LAMC1 | c.3023T>A (p.Val1008Glu) n.585T>A | |
| 1 | g.183127304T>C | CA343674748 | LAMC1 | c.3023T>C (p.Val1008Ala) n.585T>C | |
| 1 | g.183127304T>G | CA343674747 | LAMC1 | c.3023T>G (p.Val1008Gly) n.585T>G | |
| 1 | g.183127305G>A | CA422117309 | LAMC1 | c.3024G>A (p.Val1008=) n.586G>A | |
| 1 | g.183127305G>C | CA422117310 | LAMC1 | c.3024G>C (p.Val1008=) n.586G>C | |
| 1 | g.183127305G>T | CA422117311 | LAMC1 | c.3024G>T (p.Val1008=) n.586G>T | |
| 1 | g.183127306G>A | CA343674750 | LAMC1 | c.3025G>A (p.Gly1009Arg) n.587G>A | |
| 1 | g.183127306G>C | CA343674752 | LAMC1 | c.3025G>C (p.Gly1009Arg) n.587G>C | |
| 1 | g.183127306G>T | CA343674755 | LAMC1 | c.3025G>T (p.Gly1009Ter) n.587G>T | |
| 1 | g.183127307G>A | CA343674757 | LAMC1 | c.3026G>A (p.Gly1009Glu) n.588G>A | gnomAD v4 |
| 1 | g.183127307G>C | CA343674761 | LAMC1 | c.3026G>C (p.Gly1009Ala) n.588G>C | |
| 1 | g.183127307G>T | CA343674763 | LAMC1 | c.3026G>T (p.Gly1009Val) n.588G>T | |
| 1 | g.183127308A>C | CA422117313 | LAMC1 | c.3027A>C (p.Gly1009=) n.589A>C | |
| 1 | g.183127308A>G | CA422117314 | LAMC1 | c.3027A>G (p.Gly1009=) n.589A>G | |
| 1 | g.183127308A>T | CA422117317 | LAMC1 | c.3027A>T (p.Gly1009=) n.589A>T | |
| 1 | g.183127309A= | CA1149066761 | LAMC1 | c.3028A= (p.Asn1010=) n.590A= | |
| 1 | g.183127309A>C | CA1281539 | LAMC1 | c.3028A>C (p.Asn1010His) n.590A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183127309A>G | CA343674771 | LAMC1 | c.3028A>G (p.Asn1010Asp) n.590A>G | dbSNP |
| 1 | g.183127309A>T | CA343674774 | LAMC1 | c.3028A>T (p.Asn1010Tyr) n.590A>T | |
| 1 | g.183127310A= | CA1211779383 | LAMC1 | c.3029A= (p.Asn1010=) n.591A= | |
| 1 | g.183127310A>C | CA343674777 | LAMC1 | c.3029A>C (p.Asn1010Thr) n.591A>C | |
| 1 | g.183127310A>G | CA1281540 | LAMC1 | c.3029A>G (p.Asn1010Ser) n.591A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183127310A>T | CA343674779 | LAMC1 | c.3029A>T (p.Asn1010Ile) n.591A>T | |
| 1 | g.183127311T>A | CA343674797 | LAMC1 | c.3030T>A (p.Asn1010Lys) n.592T>A | |
| 1 | g.183127311T>C | CA422117322 | LAMC1 | c.3030T>C (p.Asn1010=) n.592T>C | |
| 1 | g.183127311T>G | CA343674795 | LAMC1 | c.3030T>G (p.Asn1010Lys) n.592T>G | |
| 1 | g.183127312C>A | CA343674798 | LAMC1 | c.3031C>A (p.Arg1011Ser) n.593C>A | |
| 1 | g.183127312C= | CA1211779385 | LAMC1 | c.3031C= (p.Arg1011=) n.593C= | |
| 1 | g.183127312C>G | CA343674799 | LAMC1 | c.3031C>G (p.Arg1011Gly) n.593C>G | gnomAD v4 |
| 1 | g.183127312C>T | CA33929067 | LAMC1 | c.3031C>T (p.Arg1011Cys) n.593C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183127313G>A | CA1281541 | LAMC1 | c.3032G>A (p.Arg1011His) n.594G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127313G>C | CA343674802 | LAMC1 | c.3032G>C (p.Arg1011Pro) n.594G>C | |
| 1 | g.183127313G= | CA1141589356 | LAMC1 | c.3032G= (p.Arg1011=) n.594G= | |
| 1 | g.183127313G>T | CA1281542 | LAMC1 | c.3032G>T (p.Arg1011Leu) n.594G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183127314C>A | CA422117324 | LAMC1 | c.3033C>A (p.Arg1011=) n.595C>A | |
| 1 | g.183127314C>G | CA422117325 | LAMC1 | c.3033C>G (p.Arg1011=) n.595C>G | |
| 1 | g.183127314C>T | CA422117327 | LAMC1 | c.3033C>T (p.Arg1011=) n.595C>T | |
| 1 | g.183127315T>A | CA343674806 | LAMC1 | c.3034T>A (p.Cys1012Ser) n.596T>A | gnomAD v4 |
| 1 | g.183127315T>C | CA343674809 | LAMC1 | c.3034T>C (p.Cys1012Arg) n.596T>C | gnomAD v4 |
| 1 | g.183127315T>G | CA343674815 | LAMC1 | c.3034T>G (p.Cys1012Gly) n.596T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183127315T= | CA1211779387 | LAMC1 | c.3034T= (p.Cys1012=) n.596T= | |
| 1 | g.183127316G>A | CA343674817 | LAMC1 | c.3035G>A (p.Cys1012Tyr) n.597G>A | |
| 1 | g.183127316G>C | CA343674818 | LAMC1 | c.3035G>C (p.Cys1012Ser) n.597G>C | |
| 1 | g.183127316G>T | CA343674821 | LAMC1 | c.3035G>T (p.Cys1012Phe) n.597G>T | |
| 1 | g.183127317T>A | CA343674823 | LAMC1 | c.3036T>A (p.Cys1012Ter) n.598T>A | |
| 1 | g.183127317T>C | CA422117331 | LAMC1 | c.3036T>C (p.Cys1012=) n.598T>C | gnomAD v4 |
| 1 | g.183127317T>G | CA343674826 | LAMC1 | c.3036T>G (p.Cys1012Trp) n.598T>G | |
| 1 | g.183127318G>A | CA343674828 | LAMC1 | c.3037G>A (p.Asp1013Asn) n.599G>A | dbSNP |
| 1 | g.183127318G>C | CA343674830 | LAMC1 | c.3037G>C (p.Asp1013His) n.599G>C | |
| 1 | g.183127318G= | CA1211779388 | LAMC1 | c.3037G= (p.Asp1013=) n.599G= | |
| 1 | g.183127318G>T | CA343674833 | LAMC1 | c.3037G>T (p.Asp1013Tyr) n.599G>T | gnomAD v4 |
| 1 | g.183127319A>C | CA343674836 | LAMC1 | c.3038A>C (p.Asp1013Ala) n.600A>C | |
| 1 | g.183127319A>G | CA343674837 | LAMC1 | c.3038A>G (p.Asp1013Gly) n.600A>G | |
| 1 | g.183127319A>T | CA343674838 | LAMC1 | c.3038A>T (p.Asp1013Val) n.600A>T | |
| 1 | g.183127320C>A | CA343674839 | LAMC1 | c.3039C>A (p.Asp1013Glu) n.601C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127320C= | CA1211779390 | LAMC1 | c.3039C= (p.Asp1013=) n.601C= | |
| 1 | g.183127320C>G | CA343674840 | LAMC1 | c.3039C>G (p.Asp1013Glu) n.601C>G | |
| 1 | g.183127320C>T | CA422117338 | LAMC1 | c.3039C>T (p.Asp1013=) n.601C>T | |
| 1 | g.183127321C>A | CA343674842 | LAMC1 | c.3040C>A (p.Gln1014Lys) n.602C>A | |
| 1 | g.183127321C= | CA1211779391 | LAMC1 | c.3040C= (p.Gln1014=) n.602C= | |
| 1 | g.183127321C>G | CA1281543 | LAMC1 | c.3040C>G (p.Gln1014Glu) n.602C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183127321C>T | CA343674845 | LAMC1 | c.3040C>T (p.Gln1014Ter) n.602C>T | |
| 1 | g.183127322A= | CA1211779392 | LAMC1 | c.3041A= (p.Gln1014=) n.603A= | |
| 1 | g.183127322A>C | CA343674851 | LAMC1 | c.3041A>C (p.Gln1014Pro) n.603A>C | |
| 1 | g.183127322A>G | CA343674850 | LAMC1 | c.3041A>G (p.Gln1014Arg) n.603A>G | dbSNP gnomAD v4 |
| 1 | g.183127322A>T | CA343674847 | LAMC1 | c.3041A>T (p.Gln1014Leu) n.603A>T | |
| 1 | g.183127323G>A | CA422117340 | LAMC1 | c.3042G>A (p.Gln1014=) n.604G>A | dbSNP gnomAD v4 |
| 1 | g.183127323G>C | CA343674854 | LAMC1 | c.3042G>C (p.Gln1014His) n.604G>C | |
| 1 | g.183127323G= | CA1211779394 | LAMC1 | c.3042G= (p.Gln1014=) n.604G= | |
| 1 | g.183127323G>T | CA343674856 | LAMC1 | c.3042G>T (p.Gln1014His) n.604G>T | |
| 1 | g.183127324T>A | CA343674860 | LAMC1 | c.3043T>A (p.Cys1015Ser) n.605T>A | |
| 1 | g.183127324T>C | CA343674862 | LAMC1 | c.3043T>C (p.Cys1015Arg) n.605T>C | |
| 1 | g.183127324T>G | CA343674864 | LAMC1 | c.3043T>G (p.Cys1015Gly) n.605T>G | |
| 1 | g.183127325G>A | CA343674867 | LAMC1 | c.3044G>A (p.Cys1015Tyr) n.606G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127325G>C | CA343674870 | LAMC1 | c.3044G>C (p.Cys1015Ser) n.606G>C | |
| 1 | g.183127325G= | CA1211779397 | LAMC1 | c.3044G= (p.Cys1015=) n.606G= | |
| 1 | g.183127325G>T | CA343674873 | LAMC1 | c.3044G>T (p.Cys1015Phe) n.606G>T | |
| 1 | g.183127326T>A | CA343674874 | LAMC1 | c.3045T>A (p.Cys1015Ter) n.607T>A | |
| 1 | g.183127326T>C | CA422117343 | LAMC1 | c.3045T>C (p.Cys1015=) n.607T>C | gnomAD v4 |
| 1 | g.183127326T>G | CA343674875 | LAMC1 | c.3045T>G (p.Cys1015Trp) n.607T>G | |
| 1 | g.183127327G>A | CA1281544 | LAMC1 | c.3046G>A (p.Glu1016Lys) n.608G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127327G>C | CA343674877 | LAMC1 | c.3046G>C (p.Glu1016Gln) n.608G>C | |
| 1 | g.183127327G= | CA1211779398 | LAMC1 | c.3046G= (p.Glu1016=) n.608G= | |
| 1 | g.183127327G>T | CA343674881 | LAMC1 | c.3046G>T (p.Glu1016Ter) n.608G>T | |
| 1 | g.183127328A= | CA1211779399 | LAMC1 | c.3047A= (p.Glu1016=) n.609A= | |
| 1 | g.183127328A>C | CA343674886 | LAMC1 | c.3047A>C (p.Glu1016Ala) n.609A>C | |
| 1 | g.183127328A>G | CA343674885 | LAMC1 | c.3047A>G (p.Glu1016Gly) n.609A>G | dbSNP gnomAD v4 |
| 1 | g.183127328A>T | CA343674884 | LAMC1 | c.3047A>T (p.Glu1016Val) n.609A>T | |
| 1 | g.183127329A>C | CA343674888 | LAMC1 | c.3048A>C (p.Glu1016Asp) n.610A>C | |
| 1 | g.183127329A>G | CA422117349 | LAMC1 | c.3048A>G (p.Glu1016=) n.610A>G | |
| 1 | g.183127329A>T | CA343674887 | LAMC1 | c.3048A>T (p.Glu1016Asp) n.610A>T | |
| 1 | g.183127330G>A | CA343674893 | LAMC1 | c.3049G>A (p.Glu1017Lys) n.611G>A | |
| 1 | g.183127330G>C | CA343674889 | LAMC1 | c.3049G>C (p.Glu1017Gln) n.611G>C | |
| 1 | g.183127330G>T | CA343674891 | LAMC1 | c.3049G>T (p.Glu1017Ter) n.611G>T | |
| 1 | g.183127331A>C | CA343674894 | LAMC1 | c.3050A>C (p.Glu1017Ala) n.612A>C | |
| 1 | g.183127331A>G | CA343674898 | LAMC1 | c.3050A>G (p.Glu1017Gly) n.612A>G | |
| 1 | g.183127331A>T | CA343674899 | LAMC1 | c.3050A>T (p.Glu1017Val) n.612A>T | |
| 1 | g.183127332A= | CA1211779400 | LAMC1 | c.3051A= (p.Glu1017=) n.613A= | |
| 1 | g.183127332A>C | CA343674901 | LAMC1 | c.3051A>C (p.Glu1017Asp) n.613A>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.183127332A>G | CA422117354 | LAMC1 | c.3051A>G (p.Glu1017=) n.613A>G | |
| 1 | g.183127332A>T | CA343674903 | LAMC1 | c.3051A>T (p.Glu1017Asp) n.613A>T | |
| 1 | g.183127333A>C | CA343674906 | LAMC1 | c.3052A>C (p.Asn1018His) n.614A>C | |
| 1 | g.183127333A>G | CA343674908 | LAMC1 | c.3052A>G (p.Asn1018Asp) n.614A>G | |
| 1 | g.183127333A>T | CA343674909 | LAMC1 | c.3052A>T (p.Asn1018Tyr) n.614A>T | |
| 1 | g.183127334A>C | CA343674910 | LAMC1 | c.3053A>C (p.Asn1018Thr) n.615A>C | |
| 1 | g.183127334A>G | CA343674911 | LAMC1 | c.3053A>G (p.Asn1018Ser) n.615A>G | |
| 1 | g.183127334A>T | CA343674912 | LAMC1 | c.3053A>T (p.Asn1018Ile) n.615A>T | |
| 1 | g.183127335C>A | CA343674914 | LAMC1 | c.3054C>A (p.Asn1018Lys) n.616C>A | |
| 1 | g.183127335C>G | CA343674916 | LAMC1 | c.3054C>G (p.Asn1018Lys) n.616C>G | gnomAD v4 |
| 1 | g.183127335C>T | CA422117360 | LAMC1 | c.3054C>T (p.Asn1018=) n.616C>T | gnomAD v4 |
| 1 | g.183127335_183127337delinsCTA | CA1211779402 | LAMC1 | c.3054_3056delinsCTA (p.Asn1018=) n.616_618delinsCTA | |
| 1 | g.183127336T>A | CA343674919 | LAMC1 | c.3055T>A (p.Tyr1019Asn) n.617T>A | |
| 1 | g.183127336T>C | CA343674920 | LAMC1 | c.3055T>C (p.Tyr1019His) n.617T>C | |
| 1 | g.183127336T>G | CA343674921 | LAMC1 | c.3055T>G (p.Tyr1019Asp) n.617T>G | |
| 1 | g.183127337_183127338del | CA527600202 | LAMC1 | c.3056_3057del (p.Tyr1019PhefsTer22) n.618_619del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183127337A= | CA1211779405 | LAMC1 | c.3056A= (p.Tyr1019=) n.618A= | |
| 1 | g.183127337A>C | CA343674923 | LAMC1 | c.3056A>C (p.Tyr1019Ser) n.618A>C | |
| 1 | g.183127337A>G | CA1281545 | LAMC1 | c.3056A>G (p.Tyr1019Cys) n.618A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127337A>T | CA1281546 | LAMC1 | c.3056A>T (p.Tyr1019Phe) n.618A>T | dbSNP ExAC |
| 1 | g.183127338T>A | CA343674924 | LAMC1 | c.3057T>A (p.Tyr1019Ter) n.619T>A | |
| 1 | g.183127338T>C | CA422117364 | LAMC1 | c.3057T>C (p.Tyr1019=) n.619T>C | |
| 1 | g.183127338T>G | CA343674925 | LAMC1 | c.3057T>G (p.Tyr1019Ter) n.619T>G | |
| 1 | g.183127339T>A | CA343674927 | LAMC1 | c.3058T>A (p.Phe1020Ile) n.620T>A | |
| 1 | g.183127339T>C | CA343674930 | LAMC1 | c.3058T>C (p.Phe1020Leu) n.620T>C | gnomAD v4 |
| 1 | g.183127339T>G | CA343674931 | LAMC1 | c.3058T>G (p.Phe1020Val) n.620T>G | |
| 1 | g.183127340T>A | CA343674936 | LAMC1 | c.3059T>A (p.Phe1020Tyr) n.621T>A | |
| 1 | g.183127340T>C | CA343674937 | LAMC1 | c.3059T>C (p.Phe1020Ser) n.621T>C | |
| 1 | g.183127340T>G | CA343674935 | LAMC1 | c.3059T>G (p.Phe1020Cys) n.621T>G | |
| 1 | g.183127341C>A | CA343674938 | LAMC1 | c.3060C>A (p.Phe1020Leu) n.622C>A | |
| 1 | g.183127341C>G | CA343674940 | LAMC1 | c.3060C>G (p.Phe1020Leu) n.622C>G | |
| 1 | g.183127341C>T | CA422117372 | LAMC1 | c.3060C>T (p.Phe1020=) n.622C>T | |
| 1 | g.183127342T>A | CA343674943 | LAMC1 | c.3061T>A (p.Tyr1021Asn) n.623T>A | |
| 1 | g.183127342T>C | CA343674945 | LAMC1 | c.3061T>C (p.Tyr1021His) n.623T>C | |
| 1 | g.183127342T>G | CA343674952 | LAMC1 | c.3061T>G (p.Tyr1021Asp) n.623T>G | |
| 1 | g.183127343A= | CA1211779408 | LAMC1 | c.3062A= (p.Tyr1021=) n.624A= | |
| 1 | g.183127343A>C | CA343674960 | LAMC1 | c.3062A>C (p.Tyr1021Ser) n.624A>C | |
| 1 | g.183127343A>G | CA343674961 | LAMC1 | c.3062A>G (p.Tyr1021Cys) n.624A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183127343A>T | CA343674967 | LAMC1 | c.3062A>T (p.Tyr1021Phe) n.624A>T | COSMIC |
| 1 | g.183127344C>A | CA343674971 | LAMC1 | c.3063C>A (p.Tyr1021Ter) n.625C>A | |
| 1 | g.183127344C= | CA1211779410 | LAMC1 | c.3063C= (p.Tyr1021=) n.625C= | |
| 1 | g.183127344C>G | CA343674980 | LAMC1 | c.3063C>G (p.Tyr1021Ter) n.625C>G | |
| 1 | g.183127344C>T | CA422117374 | LAMC1 | c.3063C>T (p.Tyr1021=) n.625C>T | dbSNP |
| 1 | g.183127345A= | CA1211779411 | LAMC1 | c.3064A= (p.Asn1022=) n.626A= | |
| 1 | g.183127345A>C | CA343674989 | LAMC1 | c.3064A>C (p.Asn1022His) n.626A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183127345A>G | CA343674991 | LAMC1 | c.3064A>G (p.Asn1022Asp) n.626A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183127345A>T | CA343674995 | LAMC1 | c.3064A>T (p.Asn1022Tyr) n.626A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183127346A= | CA1142200629 | LAMC1 | c.3065A= (p.Asn1022=) n.627A= | |
| 1 | g.183127346A>C | CA343674998 | LAMC1 | c.3065A>C (p.Asn1022Thr) n.627A>C | gnomAD v4 |
| 1 | g.183127346A>G | CA1281547 | LAMC1 | c.3065A>G (p.Asn1022Ser) n.627A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127346A>T | CA343674996 | LAMC1 | c.3065A>T (p.Asn1022Ile) n.627A>T | dbSNP |
| 1 | g.183127347T>A | CA343675001 | LAMC1 | c.3066T>A (p.Asn1022Lys) n.628T>A | |
| 1 | g.183127347T>C | CA422117378 | LAMC1 | c.3066T>C (p.Asn1022=) n.628T>C | |
| 1 | g.183127347T>G | CA343675002 | LAMC1 | c.3066T>G (p.Asn1022Lys) n.628T>G | |
| 1 | g.183127348C>A | CA422117379 | LAMC1 | c.3067C>A (p.Arg1023=) n.629C>A | gnomAD v4 |
| 1 | g.183127348C= | CA1211779414 | LAMC1 | c.3067C= (p.Arg1023=) n.629C= | |
| 1 | g.183127348C>G | CA343675005 | LAMC1 | c.3067C>G (p.Arg1023Gly) n.629C>G | |
| 1 | g.183127348C>T | CA1281548 | LAMC1 | c.3067C>T (p.Arg1023Trp) n.629C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127349G>A | CA1281549 | LAMC1 | c.3068G>A (p.Arg1023Gln) n.630G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183127349G>C | CA343675015 | LAMC1 | c.3068G>C (p.Arg1023Pro) n.630G>C | |
| 1 | g.183127349G= | CA1211779415 | LAMC1 | c.3068G= (p.Arg1023=) n.630G= | |
| 1 | g.183127349G>T | CA343675030 | LAMC1 | c.3068G>T (p.Arg1023Leu) n.630G>T | |
| 1 | g.183127350G>A | CA422117383 | LAMC1 | c.3069G>A (p.Arg1023=) n.631G>A | gnomAD v4 |
| 1 | g.183127350G>C | CA422117384 | LAMC1 | c.3069G>C (p.Arg1023=) n.631G>C | |
| 1 | g.183127350G>T | CA422117385 | LAMC1 | c.3069G>T (p.Arg1023=) n.631G>T | |
| 1 | g.183127351T>A | CA343675038 | LAMC1 | c.3070T>A (p.Ser1024Thr) n.632T>A | |
| 1 | g.183127351T>C | CA343675042 | LAMC1 | c.3070T>C (p.Ser1024Pro) n.632T>C | |
| 1 | g.183127351T>G | CA343675060 | LAMC1 | c.3070T>G (p.Ser1024Ala) n.632T>G | |
| 1 | g.183127352C>A | CA343675064 | LAMC1 | c.3071C>A (p.Ser1024Tyr) n.633C>A | |
| 1 | g.183127352C= | CA1143962519 | LAMC1 | c.3071C= (p.Ser1024=) n.633C= | |
| 1 | g.183127352C>G | CA343675067 | LAMC1 | c.3071C>G (p.Ser1024Cys) n.633C>G | |
| 1 | g.183127352C>T | CA1281550 | LAMC1 | c.3071C>T (p.Ser1024Phe) n.633C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183127353T>A | CA422117392 | LAMC1 | c.3072T>A (p.Ser1024=) n.634T>A | |
| 1 | g.183127353T>C | CA422117391 | LAMC1 | c.3072T>C (p.Ser1024=) n.634T>C | |
| 1 | g.183127353T>G | CA422117390 | LAMC1 | c.3072T>G (p.Ser1024=) n.634T>G | |
| 1 | g.183127354T>A | CA343675097 | LAMC1 | c.3073T>A (p.Trp1025Arg) n.635T>A | |
| 1 | g.183127354T>C | CA343675102 | LAMC1 | c.3073T>C (p.Trp1025Arg) n.635T>C | |
| 1 | g.183127354T>G | CA343675093 | LAMC1 | c.3073T>G (p.Trp1025Gly) n.635T>G | gnomAD v4 |
| 1 | g.183127355G>A | CA343675107 | LAMC1 | c.3074G>A (p.Trp1025Ter) n.636G>A | |
| 1 | g.183127355G>C | CA343675113 | LAMC1 | c.3074G>C (p.Trp1025Ser) n.636G>C | |
| 1 | g.183127355G>T | CA343675108 | LAMC1 | c.3074G>T (p.Trp1025Leu) n.636G>T | gnomAD v4 |
| 1 | g.183127356G>A | CA343675126 | LAMC1 | c.3075G>A (p.Trp1025Ter) n.637G>A | |
| 1 | g.183127356G>C | CA343675148 | LAMC1 | c.3075G>C (p.Trp1025Cys) n.637G>C | |
| 1 | g.183127356G>T | CA343675143 | LAMC1 | c.3075G>T (p.Trp1025Cys) n.637G>T | gnomAD v4 |
| 1 | g.183127357C>A | CA343675160 | LAMC1 | c.3076C>A (p.Pro1026Thr) n.638C>A | |
| 1 | g.183127357C>G | CA343675171 | LAMC1 | c.3076C>G (p.Pro1026Ala) n.638C>G | |
| 1 | g.183127357C>T | CA343675173 | LAMC1 | c.3076C>T (p.Pro1026Ser) n.638C>T | COSMIC |
| 1 | g.183127358C>A | CA343675179 | LAMC1 | c.3077C>A (p.Pro1026His) n.639C>A | |
| 1 | g.183127358C= | CA1211779418 | LAMC1 | c.3077C= (p.Pro1026=) n.639C= | |
| 1 | g.183127358C>G | CA343675185 | LAMC1 | c.3077C>G (p.Pro1026Arg) n.639C>G | |
| 1 | g.183127358C>T | CA33929137 | LAMC1 | c.3077C>T (p.Pro1026Leu) n.639C>T | dbSNP gnomAD v4 |
| 1 | g.183127359T>A | CA422117401 | LAMC1 | c.3078T>A (p.Pro1026=) n.640T>A | |
| 1 | g.183127359T>C | CA422117402 | LAMC1 | c.3078T>C (p.Pro1026=) n.640T>C | |
| 1 | g.183127359T>G | CA422117404 | LAMC1 | c.3078T>G (p.Pro1026=) n.640T>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183127359T= | CA1211779419 | LAMC1 | c.3078T= (p.Pro1026=) n.640T= | |
| 1 | g.183127360G>A | CA343675195 | LAMC1 | c.3079G>A (p.Gly1027Ser) n.641G>A | gnomAD v4 |
| 1 | g.183127360G>C | CA343675197 | LAMC1 | c.3079G>C (p.Gly1027Arg) n.641G>C | |
| 1 | g.183127360G>T | CA343675208 | LAMC1 | c.3079G>T (p.Gly1027Cys) n.641G>T | gnomAD v4 |
| 1 | g.183127361G>A | CA343675224 | LAMC1 | c.3080G>A (p.Gly1027Asp) n.642G>A | dbSNP |
| 1 | g.183127361G>C | CA343675229 | LAMC1 | c.3080G>C (p.Gly1027Ala) n.642G>C | |
| 1 | g.183127361G= | CA1211779420 | LAMC1 | c.3080G= (p.Gly1027=) n.642G= | |
| 1 | g.183127361G>T | CA343675234 | LAMC1 | c.3080G>T (p.Gly1027Val) n.642G>T | |
| 1 | g.183127362C>A | CA422117405 | LAMC1 | c.3081C>A (p.Gly1027=) n.643C>A | |
| 1 | g.183127362C= | CA1211779422 | LAMC1 | c.3081C= (p.Gly1027=) n.643C= | |
| 1 | g.183127362C>G | CA422117406 | LAMC1 | c.3081C>G (p.Gly1027=) n.643C>G | |
| 1 | g.183127362C>T | CA422117407 | LAMC1 | c.3081C>T (p.Gly1027=) n.643C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183127363T>A | CA343675239 | LAMC1 | c.3082T>A (p.Cys1028Ser) n.644T>A | |
| 1 | g.183127363T>C | CA343675246 | LAMC1 | c.3082T>C (p.Cys1028Arg) n.644T>C | gnomAD v4 |
| 1 | g.183127363T>G | CA343675242 | LAMC1 | c.3082T>G (p.Cys1028Gly) n.644T>G | |
| 1 | g.183127364G>A | CA1281551 | LAMC1 | c.3083G>A (p.Cys1028Tyr) n.645G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127364G>C | CA343675257 | LAMC1 | c.3083G>C (p.Cys1028Ser) n.645G>C | |
| 1 | g.183127364G= | CA1143533410 | LAMC1 | c.3083G= (p.Cys1028=) n.645G= | |
| 1 | g.183127364G>T | CA1281552 | LAMC1 | c.3083G>T (p.Cys1028Phe) n.645G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127365C>A | CA343675264 | LAMC1 | c.3084C>A (p.Cys1028Ter) n.646C>A | |
| 1 | g.183127365C= | CA1211779425 | LAMC1 | c.3084C= (p.Cys1028=) n.646C= | |
| 1 | g.183127365C>G | CA343675274 | LAMC1 | c.3084C>G (p.Cys1028Trp) n.646C>G | |
| 1 | g.183127365C>T | CA33929171 | LAMC1 | c.3084C>T (p.Cys1028=) n.646C>T | dbSNP |
| 1 | g.183127366C>A | CA343675292 | LAMC1 | c.3085C>A (p.Gln1029Lys) n.647C>A | |
| 1 | g.183127366C>G | CA343675295 | LAMC1 | c.3085C>G (p.Gln1029Glu) n.647C>G | gnomAD v4 |
| 1 | g.183127366C>T | CA343675299 | LAMC1 | c.3085C>T (p.Gln1029Ter) n.647C>T | |
| 1 | g.183127367A= | CA1211779427 | LAMC1 | c.3086A= (p.Gln1029=) n.648A= | |
| 1 | g.183127367A>C | CA343675304 | LAMC1 | c.3086A>C (p.Gln1029Pro) n.648A>C | dbSNP |
| 1 | g.183127367A>G | CA343675305 | LAMC1 | c.3086A>G (p.Gln1029Arg) n.648A>G | dbSNP gnomAD v4 |
| 1 | g.183127367A>T | CA343675303 | LAMC1 | c.3086A>T (p.Gln1029Leu) n.648A>T | |
| 1 | g.183127368G>A | CA422117408 | LAMC1 | c.3087G>A (p.Gln1029=) n.649G>A | gnomAD v4 |
| 1 | g.183127368G>C | CA343675306 | LAMC1 | c.3087G>C (p.Gln1029His) n.649G>C | |
| 1 | g.183127368G>T | CA343675312 | LAMC1 | c.3087G>T (p.Gln1029His) n.649G>T | |
| 1 | g.183127369G>A | CA343675320 | LAMC1 | c.3088G>A (p.Glu1030Lys) n.650G>A | |
| 1 | g.183127369G>C | CA343675321 | LAMC1 | c.3088G>C (p.Glu1030Gln) n.650G>C | |
| 1 | g.183127369G>T | CA343675322 | LAMC1 | c.3088G>T (p.Glu1030Ter) n.650G>T | |
| 1 | g.183127370A>C | CA343675329 | LAMC1 | c.3089A>C (p.Glu1030Ala) n.651A>C | |
| 1 | g.183127370A>G | CA343675326 | LAMC1 | c.3089A>G (p.Glu1030Gly) n.651A>G | |
| 1 | g.183127370A>T | CA343675328 | LAMC1 | c.3089A>T (p.Glu1030Val) n.651A>T | |
| 1 | g.183127371A= | CA1211779429 | LAMC1 | c.3090A= (p.Glu1030=) n.652A= | |
| 1 | g.183127371A>C | CA343675334 | LAMC1 | c.3090A>C (p.Glu1030Asp) n.652A>C | |
| 1 | g.183127371A>G | CA422117409 | LAMC1 | c.3090A>G (p.Glu1030=) n.652A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127371A>T | CA343675337 | LAMC1 | c.3090A>T (p.Glu1030Asp) n.652A>T | |
| 1 | g.183127372T>A | CA343675342 | LAMC1 | c.3091T>A (p.Cys1031Ser) n.653T>A | |
| 1 | g.183127372T>C | CA343675345 | LAMC1 | c.3091T>C (p.Cys1031Arg) n.653T>C | |
| 1 | g.183127372T>G | CA343675348 | LAMC1 | c.3091T>G (p.Cys1031Gly) n.653T>G | |
| 1 | g.183127373G>A | CA343675353 | LAMC1 | c.3092G>A (p.Cys1031Tyr) n.654G>A | |
| 1 | g.183127373G>C | CA343675360 | LAMC1 | c.3092G>C (p.Cys1031Ser) n.654G>C | |
| 1 | g.183127373G>T | CA343675358 | LAMC1 | c.3092G>T (p.Cys1031Phe) n.654G>T | |
| 1 | g.183127374T>A | CA343675361 | LAMC1 | c.3093T>A (p.Cys1031Ter) n.655T>A | |
| 1 | g.183127374T>C | CA422117410 | LAMC1 | c.3093T>C (p.Cys1031=) n.655T>C | |
| 1 | g.183127374T>G | CA343675362 | LAMC1 | c.3093T>G (p.Cys1031Trp) n.655T>G | |
| 1 | g.183127375C>A | CA343675363 | LAMC1 | c.3094C>A (p.Pro1032Thr) n.656C>A | |
| 1 | g.183127375C>G | CA343675367 | LAMC1 | c.3094C>G (p.Pro1032Ala) n.656C>G | |
| 1 | g.183127375C>T | CA343675372 | LAMC1 | c.3094C>T (p.Pro1032Ser) n.656C>T | |
| 1 | g.183127376C>A | CA343675375 | LAMC1 | c.3095C>A (p.Pro1032Gln) n.657C>A | |
| 1 | g.183127376C>G | CA343675377 | LAMC1 | c.3095C>G (p.Pro1032Arg) n.657C>G | |
| 1 | g.183127376C>T | CA343675382 | LAMC1 | c.3095C>T (p.Pro1032Leu) n.657C>T | |
| 1 | g.183127377A>C | CA422117411 | LAMC1 | c.3096A>C (p.Pro1032=) n.658A>C | |
| 1 | g.183127377A>G | CA422117412 | LAMC1 | c.3096A>G (p.Pro1032=) n.658A>G | |
| 1 | g.183127377A>T | CA422117413 | LAMC1 | c.3096A>T (p.Pro1032=) n.658A>T | |
| 1 | g.183127378G>A | CA343675393 | LAMC1 | c.3097G>A (p.Ala1033Thr) n.659G>A | gnomAD v4 |
| 1 | g.183127378G>C | CA343675395 | LAMC1 | c.3097G>C (p.Ala1033Pro) n.659G>C | |
| 1 | g.183127378G>T | CA343675396 | LAMC1 | c.3097G>T (p.Ala1033Ser) n.659G>T | |
| 1 | g.183127379C>A | CA343675413 | LAMC1 | c.3098C>A (p.Ala1033Asp) n.660C>A | |
| 1 | g.183127379C>G | CA343675412 | LAMC1 | c.3098C>G (p.Ala1033Gly) n.660C>G | gnomAD v4 |
| 1 | g.183127379C>T | CA343675407 | LAMC1 | c.3098C>T (p.Ala1033Val) n.660C>T | |
| 1 | g.183127380T>A | CA422117414 | LAMC1 | c.3099T>A (p.Ala1033=) n.661T>A | |
| 1 | g.183127380T>C | CA422117416 | LAMC1 | c.3099T>C (p.Ala1033=) n.661T>C | |
| 1 | g.183127380T>G | CA422117415 | LAMC1 | c.3099T>G (p.Ala1033=) n.661T>G | |
| 1 | g.183127381T>A | CA343675414 | LAMC1 | c.3100T>A (p.Cys1034Ser) n.662T>A | |
| 1 | g.183127381T>C | CA343675424 | LAMC1 | c.3100T>C (p.Cys1034Arg) n.662T>C | |
| 1 | g.183127381T>G | CA343675416 | LAMC1 | c.3100T>G (p.Cys1034Gly) n.662T>G | |
| 1 | g.183127382G>A | CA343675426 | LAMC1 | c.3101G>A (p.Cys1034Tyr) n.663G>A | dbSNP |
| 1 | g.183127382G>C | CA343675427 | LAMC1 | c.3101G>C (p.Cys1034Ser) n.663G>C | |
| 1 | g.183127382G= | CA1211779431 | LAMC1 | c.3101G= (p.Cys1034=) n.663G= | |
| 1 | g.183127382G>T | CA343675428 | LAMC1 | c.3101G>T (p.Cys1034Phe) n.663G>T | |
| 1 | g.183127383T>A | CA343675430 | LAMC1 | c.3102T>A (p.Cys1034Ter) n.664T>A | |
| 1 | g.183127383T>C | CA422117417 | LAMC1 | c.3102T>C (p.Cys1034=) n.664T>C | |
| 1 | g.183127383T>G | CA343675433 | LAMC1 | c.3102T>G (p.Cys1034Trp) n.664T>G | |
| 1 | g.183127384T>A | CA343675443 | LAMC1 | c.3103T>A (p.Tyr1035Asn) n.665T>A | |
| 1 | g.183127384T>C | CA343675445 | LAMC1 | c.3103T>C (p.Tyr1035His) n.665T>C | |
| 1 | g.183127384T>G | CA343675450 | LAMC1 | c.3103T>G (p.Tyr1035Asp) n.665T>G | |
| 1 | g.183127385A= | CA1211779433 | LAMC1 | c.3104A= (p.Tyr1035=) n.666A= | |
| 1 | g.183127385A>C | CA343675453 | LAMC1 | c.3104A>C (p.Tyr1035Ser) n.666A>C | |
| 1 | g.183127385A>G | CA1281553 | LAMC1 | c.3104A>G (p.Tyr1035Cys) n.666A>G | dbSNP ExAC gnomAD v2 |
| 1 | g.183127385A>T | CA343675454 | LAMC1 | c.3104A>T (p.Tyr1035Phe) n.666A>T | |
| 1 | g.183127386C>A | CA343675456 | LAMC1 | c.3105C>A (p.Tyr1035Ter) n.667C>A | |
| 1 | g.183127386C>G | CA343675458 | LAMC1 | c.3105C>G (p.Tyr1035Ter) n.667C>G | |
| 1 | g.183127386C>T | CA422117418 | LAMC1 | c.3105C>T (p.Tyr1035=) n.667C>T | |
| 1 | g.183127387C>A | CA422117419 | LAMC1 | c.3106C>A (p.Arg1036=) n.668C>A | |
| 1 | g.183127387C= | CA1142146251 | LAMC1 | c.3106C= (p.Arg1036=) n.668C= | |
| 1 | g.183127387C>G | CA343675461 | LAMC1 | c.3106C>G (p.Arg1036Gly) n.668C>G | |
| 1 | g.183127387C>T | CA1281554 | LAMC1 | c.3106C>T (p.Arg1036Trp) n.668C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127388G>A | CA343675465 | LAMC1 | c.3107G>A (p.Arg1036Gln) n.669G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127388G>C | CA343675467 | LAMC1 | c.3107G>C (p.Arg1036Pro) n.669G>C | |
| 1 | g.183127388G= | CA1211779435 | LAMC1 | c.3107G= (p.Arg1036=) n.669G= | |
| 1 | g.183127388G>T | CA343675469 | LAMC1 | c.3107G>T (p.Arg1036Leu) n.669G>T | |
| 1 | g.183127389G>A | CA422117420 | LAMC1 | c.3108G>A (p.Arg1036=) n.670G>A | |
| 1 | g.183127389G>C | CA422117421 | LAMC1 | c.3108G>C (p.Arg1036=) n.670G>C | |
| 1 | g.183127389G= | CA1211779437 | LAMC1 | c.3108G= (p.Arg1036=) n.670G= | |
| 1 | g.183127389G>T | CA422117422 | LAMC1 | c.3108G>T (p.Arg1036=) n.670G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183127390C>A | CA343675472 | LAMC1 | c.3109C>A (p.Leu1037Met) n.671C>A | |
| 1 | g.183127390C>G | CA343675475 | LAMC1 | c.3109C>G (p.Leu1037Val) n.671C>G | |
| 1 | g.183127390C>T | CA422117423 | LAMC1 | c.3109C>T (p.Leu1037=) n.671C>T | |
| 1 | g.183127391T>A | CA343675477 | LAMC1 | c.3110T>A (p.Leu1037Gln) n.672T>A | |
| 1 | g.183127391T>C | CA343675481 | LAMC1 | c.3110T>C (p.Leu1037Pro) n.672T>C | |
| 1 | g.183127391T>G | CA343675484 | LAMC1 | c.3110T>G (p.Leu1037Arg) n.672T>G | |
| 1 | g.183127392G>A | CA422117424 | LAMC1 | c.3111G>A (p.Leu1037=) n.673G>A | |
| 1 | g.183127392G>C | CA422117425 | LAMC1 | c.3111G>C (p.Leu1037=) n.673G>C | |
| 1 | g.183127392G>T | CA422117426 | LAMC1 | c.3111G>T (p.Leu1037=) n.673G>T | gnomAD v4 |
| 1 | g.183127393G>A | CA343675488 | LAMC1 | c.3112G>A (p.Val1038Ile) n.674G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183127393G>C | CA343675489 | LAMC1 | c.3112G>C (p.Val1038Leu) n.674G>C | |
| 1 | g.183127393G= | CA1211779438 | LAMC1 | c.3112G= (p.Val1038=) n.674G= | |
| 1 | g.183127393G>T | CA343675490 | LAMC1 | c.3112G>T (p.Val1038Leu) n.674G>T | |
| 1 | g.183127394T>A | CA343675494 | LAMC1 | c.3113T>A (p.Val1038Glu) n.675T>A | |
| 1 | g.183127394T>C | CA33929173 | LAMC1 | c.3113T>C (p.Val1038Ala) n.675T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183127394T>G | CA1281555 | LAMC1 | c.3113T>G (p.Val1038Gly) n.675T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127394T= | CA1143371751 | LAMC1 | c.3113T= (p.Val1038=) n.675T= | |
| 1 | g.183127395A= | CA1149075783 | LAMC1 | c.3114A= (p.Val1038=) n.676A= | |
| 1 | g.183127395A>C | CA422117427 | LAMC1 | c.3114A>C (p.Val1038=) n.676A>C | |
| 1 | g.183127395A>G | CA1281556 | LAMC1 | c.3114A>G (p.Val1038=) n.676A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183127395A>T | CA422117428 | LAMC1 | c.3114A>T (p.Val1038=) n.676A>T | |
| 1 | g.183127396A= | CA1211779442 | LAMC1 | c.3115A= (p.Lys1039=) n.677A= | |
| 1 | g.183127396A>C | CA343675497 | LAMC1 | c.3115A>C (p.Lys1039Gln) n.677A>C | |
| 1 | g.183127396A>G | CA33929193 | LAMC1 | c.3115A>G (p.Lys1039Glu) n.677A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183127396A>T | CA343675499 | LAMC1 | c.3115A>T (p.Lys1039Ter) n.677A>T | |
| 1 | g.183127397A>C | CA343675500 | LAMC1 | c.3116A>C (p.Lys1039Thr) n.678A>C | |
| 1 | g.183127397A>G | CA343675501 | LAMC1 | c.3116A>G (p.Lys1039Arg) n.678A>G | |
| 1 | g.183127397A>T | CA343675503 | LAMC1 | c.3116A>T (p.Lys1039Met) n.678A>T | |
| 1 | g.183127398G>A | CA422117429 | LAMC1 | c.3117G>A (p.Lys1039=) n.679G>A | |
| 1 | g.183127398G>C | CA343675507 | LAMC1 | c.3117G>C (p.Lys1039Asn) n.679G>C | |
| 1 | g.183127398G>T | CA343675514 | LAMC1 | c.3117G>T (p.Lys1039Asn) n.679G>T | |
| 1 | g.183127399G>A | CA343675518 | LAMC1 | c.3118G>A (p.Asp1040Asn) n.680G>A | |
| 1 | g.183127399G>C | CA343675520 | LAMC1 | c.3118G>C (p.Asp1040His) n.680G>C | |
| 1 | g.183127399G>T | CA343675526 | LAMC1 | c.3118G>T (p.Asp1040Tyr) n.680G>T | |
| 1 | g.183127400A>C | CA343675540 | LAMC1 | c.3119A>C (p.Asp1040Ala) n.681A>C | |
| 1 | g.183127400A>G | CA343675538 | LAMC1 | c.3119A>G (p.Asp1040Gly) n.681A>G | gnomAD v4 |
| 1 | g.183127400A>T | CA343675529 | LAMC1 | c.3119A>T (p.Asp1040Val) n.681A>T | |
| 1 | g.183127400_183127405delinsATAAGG | CA1211779443 | LAMC1 | c.3119_3123+1delinsATAAGG n.681_685+1delinsATAAGG | |
| 1 | g.183127401T>A | CA343675542 | LAMC1 | c.3120T>A (p.Asp1040Glu) n.682T>A | dbSNP |
| 1 | g.183127401T>C | CA422117433 | LAMC1 | c.3120T>C (p.Asp1040=) n.682T>C | |
| 1 | g.183127401T>G | CA343675555 | LAMC1 | c.3120T>G (p.Asp1040Glu) n.682T>G | |
| 1 | g.183127405_183127409del | CA527600203 | LAMC1 | c.3123+1_3123+5del n.685+1_685+5del | dbSNP gnomAD v2 |
| 1 | g.183127402A= | CA1211779445 | LAMC1 | c.3121A= (p.Lys1041=) n.683A= | |
| 1 | g.183127402A>C | CA343675556 | LAMC1 | c.3121A>C (p.Lys1041Gln) n.683A>C | |
| 1 | g.183127402A>G | CA1281557 | LAMC1 | c.3121A>G (p.Lys1041Glu) n.683A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183127402A>T | CA343675557 | LAMC1 | c.3121A>T (p.Lys1041Ter) n.683A>T | |
| 1 | g.183127403A>C | CA343675560 | LAMC1 | c.3122A>C (p.Lys1041Thr) n.684A>C | |
| 1 | g.183127403A>G | CA343675562 | LAMC1 | c.3122A>G (p.Lys1041Arg) n.684A>G | |
| 1 | g.183127403A>T | CA343675564 | LAMC1 | c.3122A>T (p.Lys1041Met) n.684A>T | |
| 1 | g.183127404G>A | CA422117434 | LAMC1 | c.3123G>A (p.Lys1041=) n.685G>A | |
| 1 | g.183127404G>C | CA343675566 | LAMC1 | c.3123G>C (p.Lys1041Asn) n.685G>C | dbSNP gnomAD v4 |
| 1 | g.183127404G= | CA1211779446 | LAMC1 | c.3123G= (p.Lys1041=) n.685G= | |
| 1 | g.183127404G>T | CA343675568 | LAMC1 | c.3123G>T (p.Lys1041Asn) n.685G>T |