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 |
|---|---|---|---|---|---|
| 1 | g.183207935_183207938del | CA16040674 | LAMC2 | c.134_137del (p.Arg45LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183207937C>A | CA343669960 | LAMC2 | c.136C>A (p.Gln46Lys) | |
| 1 | g.183207937C>G | CA343669962 | LAMC2 | c.136C>G (p.Gln46Glu) | gnomAD v4 |
| 1 | g.183207937C>T | CA343669964 | LAMC2 | c.136C>T (p.Gln46Ter) | ClinVar dbSNP |
| 1 | g.183207938A= | CA1211812091 | LAMC2 | c.137A= (p.Gln46=) | |
| 1 | g.183207938A>C | CA343669967 | LAMC2 | c.137A>C (p.Gln46Pro) | |
| 1 | g.183207938A>G | CA343669969 | LAMC2 | c.137A>G (p.Gln46Arg) | dbSNP gnomAD v4 |
| 1 | g.183207938A>T | CA343669971 | LAMC2 | c.137A>T (p.Gln46Leu) | |
| 1 | g.183207939A= | CA1211812092 | LAMC2 | c.138A= (p.Gln46=) | |
| 1 | g.183207939A>C | CA343669974 | LAMC2 | c.138A>C (p.Gln46His) | |
| 1 | g.183207939A>G | CA1282244 | LAMC2 | c.138A>G (p.Gln46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207939A>T | CA343669975 | LAMC2 | c.138A>T (p.Gln46His) | |
| 1 | g.183207940A= | CA1211812093 | LAMC2 | c.139A= (p.Thr47=) | |
| 1 | g.183207940A>C | CA343669977 | LAMC2 | c.139A>C (p.Thr47Pro) | |
| 1 | g.183207940A>G | CA1282245 | LAMC2 | c.139A>G (p.Thr47Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183207940A>T | CA343669978 | LAMC2 | c.139A>T (p.Thr47Ser) | |
| 1 | g.183207941C>A | CA343669979 | LAMC2 | c.140C>A (p.Thr47Asn) | |
| 1 | g.183207941C>G | CA343669980 | LAMC2 | c.140C>G (p.Thr47Ser) | |
| 1 | g.183207941C>T | CA343669981 | LAMC2 | c.140C>T (p.Thr47Ile) | |
| 1 | g.183207942T>A | CA422114058 | LAMC2 | c.141T>A (p.Thr47=) | |
| 1 | g.183207942T>C | CA422114059 | LAMC2 | c.141T>C (p.Thr47=) | |
| 1 | g.183207942T>G | CA422114061 | LAMC2 | c.141T>G (p.Thr47=) | |
| 1 | g.183207943G>A | CA343669982 | LAMC2 | c.142G>A (p.Gly48Ser) | |
| 1 | g.183207943G>C | CA1282246 | LAMC2 | c.142G>C (p.Gly48Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207943G= | CA1211812094 | LAMC2 | c.142G= (p.Gly48=) | |
| 1 | g.183207943G>T | CA343669983 | LAMC2 | c.142G>T (p.Gly48Cys) | dbSNP COSMIC |
| 1 | g.183207944G>A | CA343669984 | LAMC2 | c.143G>A (p.Gly48Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183207944G>C | CA343669985 | LAMC2 | c.143G>C (p.Gly48Ala) | |
| 1 | g.183207944G= | CA1211812095 | LAMC2 | c.143G= (p.Gly48=) | |
| 1 | g.183207944G>T | CA343669986 | LAMC2 | c.143G>T (p.Gly48Val) | gnomAD v4 |
| 1 | g.183207945T>A | CA422114063 | LAMC2 | c.144T>A (p.Gly48=) | |
| 1 | g.183207945T>C | CA422114064 | LAMC2 | c.144T>C (p.Gly48=) | gnomAD v4 |
| 1 | g.183207945T>G | CA422114065 | LAMC2 | c.144T>G (p.Gly48=) | |
| 1 | g.183207945T= | CA1211812096 | LAMC2 | c.144T= (p.Gly48=) | |
| 1 | g.183207946A= | CA1211812097 | LAMC2 | c.145A= (p.Asn49=) | |
| 1 | g.183207946A>C | CA1282247 | LAMC2 | c.145A>C (p.Asn49His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183207946A>G | CA33955346 | LAMC2 | c.145A>G (p.Asn49Asp) | dbSNP gnomAD v4 |
| 1 | g.183207946A>T | CA343669987 | LAMC2 | c.145A>T (p.Asn49Tyr) | |
| 1 | g.183207947_183207951dup | CA16040675 | LAMC2 | c.146_150dup (p.Phe51MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183207947A>C | CA343669988 | LAMC2 | c.146A>C (p.Asn49Thr) | |
| 1 | g.183207947A>G | CA343669989 | LAMC2 | c.146A>G (p.Asn49Ser) | |
| 1 | g.183207947A>T | CA343669990 | LAMC2 | c.146A>T (p.Asn49Ile) | |
| 1 | g.183207948T>A | CA343669991 | LAMC2 | c.147T>A (p.Asn49Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207948T>C | CA422114072 | LAMC2 | c.147T>C (p.Asn49=) | ClinVar |
| 1 | g.183207948T>G | CA1282248 | LAMC2 | c.147T>G (p.Asn49Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207948T= | CA1147438802 | LAMC2 | c.147T= (p.Asn49=) | |
| 1 | g.183207949G>A | CA1282249 | LAMC2 | c.148G>A (p.Gly50Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183207949G>C | CA343669992 | LAMC2 | c.148G>C (p.Gly50Arg) | |
| 1 | g.183207949G= | CA1211812098 | LAMC2 | c.148G= (p.Gly50=) | |
| 1 | g.183207949G>T | CA343669993 | LAMC2 | c.148G>T (p.Gly50Ter) | |
| 1 | g.183207950G>A | CA33955367 | LAMC2 | c.149G>A (p.Gly50Glu) | dbSNP |
| 1 | g.183207950G>C | CA343669994 | LAMC2 | c.149G>C (p.Gly50Ala) | |
| 1 | g.183207950G= | CA1211812099 | LAMC2 | c.149G= (p.Gly50=) | |
| 1 | g.183207950G>T | CA343669995 | LAMC2 | c.149G>T (p.Gly50Val) | |
| 1 | g.183207951A= | CA1211812100 | LAMC2 | c.150A= (p.Gly50=) | |
| 1 | g.183207951A>C | CA422114076 | LAMC2 | c.150A>C (p.Gly50=) | |
| 1 | g.183207951A>G | CA422114075 | LAMC2 | c.150A>G (p.Gly50=) | |
| 1 | g.183207951A>T | CA422114074 | LAMC2 | c.150A>T (p.Gly50=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183207952T>A | CA343669998 | LAMC2 | c.151T>A (p.Phe51Ile) | gnomAD v4 |
| 1 | g.183207952T>C | CA343669997 | LAMC2 | c.151T>C (p.Phe51Leu) | gnomAD v4 |
| 1 | g.183207952T>G | CA343669996 | LAMC2 | c.151T>G (p.Phe51Val) | |
| 1 | g.183207953T>A | CA343669999 | LAMC2 | c.152T>A (p.Phe51Tyr) | |
| 1 | g.183207953T>C | CA343670000 | LAMC2 | c.152T>C (p.Phe51Ser) | |
| 1 | g.183207953T>G | CA343670001 | LAMC2 | c.152T>G (p.Phe51Cys) | |
| 1 | g.183207954C>A | CA343670002 | LAMC2 | c.153C>A (p.Phe51Leu) | |
| 1 | g.183207954C= | CA1144126435 | LAMC2 | c.153C= (p.Phe51=) | |
| 1 | g.183207954C>G | CA343670003 | LAMC2 | c.153C>G (p.Phe51Leu) | |
| 1 | g.183207954C>T | CA33955388 | LAMC2 | c.153C>T (p.Phe51=) | dbSNP gnomAD v4 |
| 1 | g.183207955C>A | CA343670004 | LAMC2 | c.154C>A (p.Arg52Ser) | |
| 1 | g.183207955C= | CA1211812101 | LAMC2 | c.154C= (p.Arg52=) | |
| 1 | g.183207955C>G | CA343670005 | LAMC2 | c.154C>G (p.Arg52Gly) | |
| 1 | g.183207955C>T | CA343670006 | LAMC2 | c.154C>T (p.Arg52Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183207956G>A | CA343670007 | LAMC2 | c.155G>A (p.Arg52His) | COSMIC |
| 1 | g.183207956G>C | CA343670008 | LAMC2 | c.155G>C (p.Arg52Pro) | |
| 1 | g.183207956G= | CA1211812102 | LAMC2 | c.155G= (p.Arg52=) | |
| 1 | g.183207956G>T | CA343670009 | LAMC2 | c.155G>T (p.Arg52Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183207957C>A | CA422114087 | LAMC2 | c.156C>A (p.Arg52=) | |
| 1 | g.183207957C>G | CA422114082 | LAMC2 | c.156C>G (p.Arg52=) | |
| 1 | g.183207957C>T | CA422114084 | LAMC2 | c.156C>T (p.Arg52=) | |
| 1 | g.183207958T>A | CA343670010 | LAMC2 | c.157T>A (p.Cys53Ser) | |
| 1 | g.183207958T>C | CA343670012 | LAMC2 | c.157T>C (p.Cys53Arg) | |
| 1 | g.183207958T>G | CA343670011 | LAMC2 | c.157T>G (p.Cys53Gly) | |
| 1 | g.183207959G>A | CA343670013 | LAMC2 | c.158G>A (p.Cys53Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183207959G>C | CA343670015 | LAMC2 | c.158G>C (p.Cys53Ser) | |
| 1 | g.183207959G= | CA1211812103 | LAMC2 | c.158G= (p.Cys53=) | |
| 1 | g.183207959G>T | CA343670014 | LAMC2 | c.158G>T (p.Cys53Phe) | |
| 1 | g.183207960C>A | CA343670016 | LAMC2 | c.159C>A (p.Cys53Ter) | |
| 1 | g.183207960C>G | CA343670017 | LAMC2 | c.159C>G (p.Cys53Trp) | |
| 1 | g.183207960C>T | CA422114090 | LAMC2 | c.159C>T (p.Cys53=) | gnomAD v4 |
| 1 | g.183207961C>A | CA343670018 | LAMC2 | c.160C>A (p.Leu54Ile) | |
| 1 | g.183207961C= | CA1211812104 | LAMC2 | c.160C= (p.Leu54=) | |
| 1 | g.183207961C>G | CA343670019 | LAMC2 | c.160C>G (p.Leu54Val) | |
| 1 | g.183207961C>T | CA343670020 | LAMC2 | c.160C>T (p.Leu54Phe) | dbSNP gnomAD v4 |
| 1 | g.183207962T>A | CA343670021 | LAMC2 | c.161T>A (p.Leu54His) | COSMIC |
| 1 | g.183207962T>C | CA343670022 | LAMC2 | c.161T>C (p.Leu54Pro) | |
| 1 | g.183207962T>G | CA343670023 | LAMC2 | c.161T>G (p.Leu54Arg) | |
| 1 | g.183207962_183207963delinsAA | CA645533542 | LAMC2 | c.161_162delinsAA (p.Leu54Gln) | COSMIC |
| 1 | g.183207963C>A | CA422114093 | LAMC2 | c.162C>A (p.Leu54=) | COSMIC |
| 1 | g.183207963C>G | CA422114091 | LAMC2 | c.162C>G (p.Leu54=) | COSMIC |
| 1 | g.183207963C>T | CA422114092 | LAMC2 | c.162C>T (p.Leu54=) | gnomAD v4 |
| 1 | g.183207964A>C | CA343670024 | LAMC2 | c.163A>C (p.Asn55His) | |
| 1 | g.183207964A>G | CA343670025 | LAMC2 | c.163A>G (p.Asn55Asp) | |
| 1 | g.183207964A>T | CA343670026 | LAMC2 | c.163A>T (p.Asn55Tyr) | |
| 1 | g.183207965A= | CA1211812105 | LAMC2 | c.164A= (p.Asn55=) | |
| 1 | g.183207965A>C | CA343670029 | LAMC2 | c.164A>C (p.Asn55Thr) | |
| 1 | g.183207965A>G | CA343670027 | LAMC2 | c.164A>G (p.Asn55Ser) | dbSNP gnomAD v4 |
| 1 | g.183207965A>T | CA343670028 | LAMC2 | c.164A>T (p.Asn55Ile) | |
| 1 | g.183207966C>A | CA343670030 | LAMC2 | c.165C>A (p.Asn55Lys) | dbSNP |
| 1 | g.183207966C= | CA1211812106 | LAMC2 | c.165C= (p.Asn55=) | |
| 1 | g.183207966C>G | CA343670031 | LAMC2 | c.165C>G (p.Asn55Lys) | |
| 1 | g.183207966C>T | CA422114095 | LAMC2 | c.165C>T (p.Asn55=) | |
| 1 | g.183207967T>A | CA343670032 | LAMC2 | c.166T>A (p.Cys56Ser) | |
| 1 | g.183207967T>C | CA343670033 | LAMC2 | c.166T>C (p.Cys56Arg) | dbSNP COSMIC |
| 1 | g.183207967T>G | CA343670034 | LAMC2 | c.166T>G (p.Cys56Gly) | |
| 1 | g.183207967T= | CA1211812107 | LAMC2 | c.166T= (p.Cys56=) | |
| 1 | g.183207968G>A | CA343670035 | LAMC2 | c.167G>A (p.Cys56Tyr) | gnomAD v4 |
| 1 | g.183207968G>C | CA343670036 | LAMC2 | c.167G>C (p.Cys56Ser) | |
| 1 | g.183207968G>T | CA343670037 | LAMC2 | c.167G>T (p.Cys56Phe) | |
| 1 | g.183207969C>A | CA343670038 | LAMC2 | c.168C>A (p.Cys56Ter) | |
| 1 | g.183207969C>G | CA343670039 | LAMC2 | c.168C>G (p.Cys56Trp) | |
| 1 | g.183207969C>T | CA422114096 | LAMC2 | c.168C>T (p.Cys56=) | |
| 1 | g.183207970A>C | CA343670041 | LAMC2 | c.169A>C (p.Asn57His) | |
| 1 | g.183207970A>G | CA343670042 | LAMC2 | c.169A>G (p.Asn57Asp) | ClinVar |
| 1 | g.183207970A>T | CA343670040 | LAMC2 | c.169A>T (p.Asn57Tyr) | |
| 1 | g.183207971del | CA2649463390 | LAMC2 | c.170del (p.Asn57MetfsTer?) | gnomAD v4 |
| 1 | g.183207971A= | CA1211812108 | LAMC2 | c.170A= (p.Asn57=) | |
| 1 | g.183207971A>C | CA343670043 | LAMC2 | c.170A>C (p.Asn57Thr) | |
| 1 | g.183207971A>G | CA1282250 | LAMC2 | c.170A>G (p.Asn57Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207971A>T | CA33955402 | LAMC2 | c.170A>T (p.Asn57Ile) | dbSNP gnomAD v4 |
| 1 | g.183207972T>A | CA343670044 | LAMC2 | c.171T>A (p.Asn57Lys) | |
| 1 | g.183207972T>C | CA422114097 | LAMC2 | c.171T>C (p.Asn57=) | ClinVar dbSNP |
| 1 | g.183207972T>G | CA343670045 | LAMC2 | c.171T>G (p.Asn57Lys) | |
| 1 | g.183207973G>A | CA343670048 | LAMC2 | c.172G>A (p.Asp58Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207973G>C | CA343670046 | LAMC2 | c.172G>C (p.Asp58His) | |
| 1 | g.183207973G= | CA1211812109 | LAMC2 | c.172G= (p.Asp58=) | |
| 1 | g.183207973G>T | CA343670047 | LAMC2 | c.172G>T (p.Asp58Tyr) | |
| 1 | g.183207974A>C | CA343670049 | LAMC2 | c.173A>C (p.Asp58Ala) | |
| 1 | g.183207974A>G | CA343670050 | LAMC2 | c.173A>G (p.Asp58Gly) | |
| 1 | g.183207974A>T | CA343670051 | LAMC2 | c.173A>T (p.Asp58Val) | |
| 1 | g.183207975C>A | CA343670052 | LAMC2 | c.174C>A (p.Asp58Glu) | |
| 1 | g.183207975C>G | CA343670053 | LAMC2 | c.174C>G (p.Asp58Glu) | |
| 1 | g.183207975C>T | CA422114100 | LAMC2 | c.174C>T (p.Asp58=) | gnomAD v4 |
| 1 | g.183207976A>C | CA343670054 | LAMC2 | c.175A>C (p.Asn59His) | |
| 1 | g.183207976A>G | CA343670056 | LAMC2 | c.175A>G (p.Asn59Asp) | |
| 1 | g.183207976A>T | CA343670055 | LAMC2 | c.175A>T (p.Asn59Tyr) | |
| 1 | g.183207977del | CA2580061600 | LAMC2 | c.176del (p.Asn59ThrfsTer?) | ClinVar |
| 1 | g.183207977A>C | CA343670057 | LAMC2 | c.176A>C (p.Asn59Thr) | |
| 1 | g.183207977A>G | CA343670058 | LAMC2 | c.176A>G (p.Asn59Ser) | gnomAD v4 |
| 1 | g.183207977A>T | CA343670059 | LAMC2 | c.176A>T (p.Asn59Ile) | |
| 1 | g.183207978C>A | CA343670060 | LAMC2 | c.177C>A (p.Asn59Lys) | |
| 1 | g.183207978C>G | CA343670061 | LAMC2 | c.177C>G (p.Asn59Lys) | |
| 1 | g.183207978C>T | CA422114102 | LAMC2 | c.177C>T (p.Asn59=) | gnomAD v4 |
| 1 | g.183207979A>C | CA343670062 | LAMC2 | c.178A>C (p.Thr60Pro) | |
| 1 | g.183207979A>G | CA343670063 | LAMC2 | c.178A>G (p.Thr60Ala) | |
| 1 | g.183207979A>T | CA343670064 | LAMC2 | c.178A>T (p.Thr60Ser) | gnomAD v4 |
| 1 | g.183207980C>A | CA343670065 | LAMC2 | c.179C>A (p.Thr60Asn) | |
| 1 | g.183207980C= | CA1211812110 | LAMC2 | c.179C= (p.Thr60=) | |
| 1 | g.183207980C>G | CA343670066 | LAMC2 | c.179C>G (p.Thr60Ser) | gnomAD v4 |
| 1 | g.183207980C>T | CA343670067 | LAMC2 | c.179C>T (p.Thr60Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183207980dup | CA913071907 | LAMC2 | c.179dup (p.Asp61Ter) | |
| 1 | g.183207981T>A | CA422114105 | LAMC2 | c.180T>A (p.Thr60=) | |
| 1 | g.183207981T>C | CA422114106 | LAMC2 | c.180T>C (p.Thr60=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.183207981T>G | CA422114107 | LAMC2 | c.180T>G (p.Thr60=) | |
| 1 | g.183207981T= | CA1211812111 | LAMC2 | c.180T= (p.Thr60=) | |
| 1 | g.183207981dup | CA658821421 | LAMC2 | c.180dup (p.Asp61Ter) | ClinVar dbSNP |
| 1 | g.183207982G>A | CA343670070 | LAMC2 | c.181G>A (p.Asp61Asn) | |
| 1 | g.183207982G>C | CA343670069 | LAMC2 | c.181G>C (p.Asp61His) | |
| 1 | g.183207982G>T | CA343670068 | LAMC2 | c.181G>T (p.Asp61Tyr) | |
| 1 | g.183207983A= | CA1211812113 | LAMC2 | c.182A= (p.Asp61=) | |
| 1 | g.183207983A>C | CA343670071 | LAMC2 | c.182A>C (p.Asp61Ala) | |
| 1 | g.183207983A>G | CA343670073 | LAMC2 | c.182A>G (p.Asp61Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207983A>T | CA343670072 | LAMC2 | c.182A>T (p.Asp61Val) | |
| 1 | g.183207983_183207984delinsAT | CA1211812112 | LAMC2 | c.182_183delinsAT (p.Asp61=) | |
| 1 | g.183207984del | CA527260171 | LAMC2 | c.183del (p.Asp61GlufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207984T>A | CA343670074 | LAMC2 | c.183T>A (p.Asp61Glu) | |
| 1 | g.183207984T>C | CA422114113 | LAMC2 | c.183T>C (p.Asp61=) | dbSNP gnomAD v4 |
| 1 | g.183207984T>G | CA33955411 | LAMC2 | c.183T>G (p.Asp61Glu) | dbSNP |
| 1 | g.183207984T= | CA1141133385 | LAMC2 | c.183T= (p.Asp61=) | |
| 1 | g.183207985G>A | CA343670075 | LAMC2 | c.184G>A (p.Gly62Ser) | |
| 1 | g.183207985G>C | CA343670076 | LAMC2 | c.184G>C (p.Gly62Arg) | |
| 1 | g.183207985G>T | CA343670077 | LAMC2 | c.184G>T (p.Gly62Cys) | |
| 1 | g.183207986G>A | CA343670078 | LAMC2 | c.185G>A (p.Gly62Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183207986G>C | CA343670079 | LAMC2 | c.185G>C (p.Gly62Ala) | gnomAD v4 |
| 1 | g.183207986G= | CA1211812114 | LAMC2 | c.185G= (p.Gly62=) | |
| 1 | g.183207986G>T | CA343670080 | LAMC2 | c.185G>T (p.Gly62Val) | dbSNP |
| 1 | g.183207987C>A | CA422114117 | LAMC2 | c.186C>A (p.Gly62=) | |
| 1 | g.183207987C>G | CA422114119 | LAMC2 | c.186C>G (p.Gly62=) | |
| 1 | g.183207987C>T | CA422114120 | LAMC2 | c.186C>T (p.Gly62=) | |
| 1 | g.183207988A>C | CA343670081 | LAMC2 | c.187A>C (p.Ile63Leu) | |
| 1 | g.183207988A>G | CA343670082 | LAMC2 | c.187A>G (p.Ile63Val) | gnomAD v4 |
| 1 | g.183207988A>T | CA343670083 | LAMC2 | c.187A>T (p.Ile63Phe) | |
| 1 | g.183207989T>A | CA343670084 | LAMC2 | c.188T>A (p.Ile63Asn) | |
| 1 | g.183207989T>C | CA343670085 | LAMC2 | c.188T>C (p.Ile63Thr) | |
| 1 | g.183207989T>G | CA343670086 | LAMC2 | c.188T>G (p.Ile63Ser) | |
| 1 | g.183207990T>A | CA422114122 | LAMC2 | c.189T>A (p.Ile63=) | |
| 1 | g.183207990T>C | CA422114123 | LAMC2 | c.189T>C (p.Ile63=) | |
| 1 | g.183207990T>G | CA343670087 | LAMC2 | c.189T>G (p.Ile63Met) | |
| 1 | g.183207991C>A | CA343670088 | LAMC2 | c.190C>A (p.His64Asn) | |
| 1 | g.183207991C>G | CA343670090 | LAMC2 | c.190C>G (p.His64Asp) | |
| 1 | g.183207991C>T | CA343670089 | LAMC2 | c.190C>T (p.His64Tyr) | |
| 1 | g.183207992_183207993dup | CA2586964439 | LAMC2 | c.191_192dup (p.Cys65ThrfsTer?) | |
| 1 | g.183207992A= | CA1211812115 | LAMC2 | c.191A= (p.His64=) | |
| 1 | g.183207992A>C | CA343670091 | LAMC2 | c.191A>C (p.His64Pro) | |
| 1 | g.183207992A>G | CA1282251 | LAMC2 | c.191A>G (p.His64Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183207992A>T | CA343670092 | LAMC2 | c.191A>T (p.His64Leu) | |
| 1 | g.183207993C>A | CA343670093 | LAMC2 | c.192C>A (p.His64Gln) | |
| 1 | g.183207993C>G | CA343670094 | LAMC2 | c.192C>G (p.His64Gln) | |
| 1 | g.183207993C>T | CA422114127 | LAMC2 | c.192C>T (p.His64=) | gnomAD v4 |
| 1 | g.183207994T>A | CA343670095 | LAMC2 | c.193T>A (p.Cys65Ser) | gnomAD v4 |
| 1 | g.183207994T>C | CA343670096 | LAMC2 | c.193T>C (p.Cys65Arg) | |
| 1 | g.183207994T>G | CA343670097 | LAMC2 | c.193T>G (p.Cys65Gly) | |
| 1 | g.183207995G>A | CA343670098 | LAMC2 | c.194G>A (p.Cys65Tyr) | |
| 1 | g.183207995G>C | CA343670099 | LAMC2 | c.194G>C (p.Cys65Ser) | |
| 1 | g.183207995G>T | CA343670100 | LAMC2 | c.194G>T (p.Cys65Phe) | gnomAD v4 |
| 1 | g.183207996C>A | CA343670101 | LAMC2 | c.195C>A (p.Cys65Ter) | ClinVar |
| 1 | g.183207996C>G | CA343670102 | LAMC2 | c.195C>G (p.Cys65Trp) | gnomAD v4 |
| 1 | g.183207996C>T | CA422114131 | LAMC2 | c.195C>T (p.Cys65=) | gnomAD v4 COSMIC |
| 1 | g.183207997G>A | CA241587 | LAMC2 | c.196G>A (p.Glu66Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183207997G>C | CA343670103 | LAMC2 | c.196G>C (p.Glu66Gln) | |
| 1 | g.183207997G= | CA1142109267 | LAMC2 | c.196G= (p.Glu66=) | |
| 1 | g.183207997G>T | CA343670104 | LAMC2 | c.196G>T (p.Glu66Ter) | COSMIC |
| 1 | g.183207998A>C | CA343670105 | LAMC2 | c.197A>C (p.Glu66Ala) | |
| 1 | g.183207998A>G | CA343670106 | LAMC2 | c.197A>G (p.Glu66Gly) | |
| 1 | g.183207998A>T | CA343670107 | LAMC2 | c.197A>T (p.Glu66Val) | |
| 1 | g.183207999G>A | CA422114136 | LAMC2 | c.198G>A (p.Glu66=) | |
| 1 | g.183207999G>C | CA343670108 | LAMC2 | c.198G>C (p.Glu66Asp) | |
| 1 | g.183207999G>T | CA343670109 | LAMC2 | c.198G>T (p.Glu66Asp) | |
| 1 | g.183208000A>C | CA343670110 | LAMC2 | c.199A>C (p.Lys67Gln) | |
| 1 | g.183208000A>G | CA343670111 | LAMC2 | c.199A>G (p.Lys67Glu) | |
| 1 | g.183208000A>T | CA343670112 | LAMC2 | c.199A>T (p.Lys67Ter) | |
| 1 | g.183208001A= | CA1211812116 | LAMC2 | c.200A= (p.Lys67=) | |
| 1 | g.183208001A>C | CA343670113 | LAMC2 | c.200A>C (p.Lys67Thr) | |
| 1 | g.183208001A>G | CA343670114 | LAMC2 | c.200A>G (p.Lys67Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183208001A>T | CA343670115 | LAMC2 | c.200A>T (p.Lys67Met) | |
| 1 | g.183208002G>A | CA422114140 | LAMC2 | c.201G>A (p.Lys67=) | ClinVar gnomAD v4 |
| 1 | g.183208002G>C | CA343670116 | LAMC2 | c.201G>C (p.Lys67Asn) | |
| 1 | g.183208002G>T | CA343670117 | LAMC2 | c.201G>T (p.Lys67Asn) | |
| 1 | g.183208003T>A | CA343670118 | LAMC2 | c.202T>A (p.Cys68Ser) | |
| 1 | g.183208003T>C | CA1282252 | LAMC2 | c.202T>C (p.Cys68Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.183208003T>G | CA343670119 | LAMC2 | c.202T>G (p.Cys68Gly) | |
| 1 | g.183208003T= | CA1148568088 | LAMC2 | c.202T= (p.Cys68=) | |
| 1 | g.183208004G>A | CA343670120 | LAMC2 | c.203G>A (p.Cys68Tyr) | |
| 1 | g.183208004G>C | CA343670121 | LAMC2 | c.203G>C (p.Cys68Ser) | gnomAD v4 |
| 1 | g.183208004G= | CA1211812117 | LAMC2 | c.203G= (p.Cys68=) | |
| 1 | g.183208004G>T | CA343670122 | LAMC2 | c.203G>T (p.Cys68Phe) | |
| 1 | g.183208005C>A | CA343670123 | LAMC2 | c.204C>A (p.Cys68Ter) | |
| 1 | g.183208005C= | CA1211812118 | LAMC2 | c.204C= (p.Cys68=) | |
| 1 | g.183208005C>G | CA343670124 | LAMC2 | c.204C>G (p.Cys68Trp) | |
| 1 | g.183208005C>T | CA422114143 | LAMC2 | c.204C>T (p.Cys68=) | dbSNP |
| 1 | g.183208005dup | CA916355256 | LAMC2 | c.204dup (p.Lys69GlnfsTer19) | dbSNP |
| 1 | g.183208006A>C | CA343670125 | LAMC2 | c.205A>C (p.Lys69Gln) | |
| 1 | g.183208006A>G | CA343670126 | LAMC2 | c.205A>G (p.Lys69Glu) | |
| 1 | g.183208006A>T | CA343670127 | LAMC2 | c.205A>T (p.Lys69Ter) | |
| 1 | g.183208007A>C | CA343670130 | LAMC2 | c.206A>C (p.Lys69Thr) | |
| 1 | g.183208007A>G | CA343670129 | LAMC2 | c.206A>G (p.Lys69Arg) | |
| 1 | g.183208007A>T | CA343670128 | LAMC2 | c.206A>T (p.Lys69Met) | |
| 1 | g.183208008G>A | CA422114146 | LAMC2 | c.207G>A (p.Lys69=) | |
| 1 | g.183208008G>C | CA343670131 | LAMC2 | c.207G>C (p.Lys69Asn) | |
| 1 | g.183208008G>T | CA343670132 | LAMC2 | c.207G>T (p.Lys69Asn) | |
| 1 | g.183208009A= | CA1211812119 | LAMC2 | c.208A= (p.Asn70=) | |
| 1 | g.183208009A>C | CA343670133 | LAMC2 | c.208A>C (p.Asn70His) | |
| 1 | g.183208009A>G | CA343670134 | LAMC2 | c.208A>G (p.Asn70Asp) | dbSNP |
| 1 | g.183208009A>T | CA343670135 | LAMC2 | c.208A>T (p.Asn70Tyr) | |
| 1 | g.183208010A>C | CA343670136 | LAMC2 | c.209A>C (p.Asn70Thr) | |
| 1 | g.183208010A>G | CA343670137 | LAMC2 | c.209A>G (p.Asn70Ser) | |
| 1 | g.183208010A>T | CA343670138 | LAMC2 | c.209A>T (p.Asn70Ile) | |
| 1 | g.183208011T>A | CA343670140 | LAMC2 | c.210T>A (p.Asn70Lys) | |
| 1 | g.183208011T>C | CA422114152 | LAMC2 | c.210T>C (p.Asn70=) | gnomAD v4 |
| 1 | g.183208011T>G | CA343670139 | LAMC2 | c.210T>G (p.Asn70Lys) | |
| 1 | g.183208012G>A | CA343670141 | LAMC2 | c.211G>A (p.Gly71Ser) | |
| 1 | g.183208012G>C | CA343670142 | LAMC2 | c.211G>C (p.Gly71Arg) | |
| 1 | g.183208012G>T | CA343670143 | LAMC2 | c.211G>T (p.Gly71Cys) | |
| 1 | g.183208013G>A | CA343670144 | LAMC2 | c.212G>A (p.Gly71Asp) | |
| 1 | g.183208013G>C | CA343670145 | LAMC2 | c.212G>C (p.Gly71Ala) | |
| 1 | g.183208013G>T | CA343670146 | LAMC2 | c.212G>T (p.Gly71Val) | |
| 1 | g.183208013_183208015delinsCC | CA2586964440 | LAMC2 | c.212_214delinsCC (p.Gly71AlafsTer?) | |
| 1 | g.183208014C>A | CA422114156 | LAMC2 | c.213C>A (p.Gly71=) | |
| 1 | g.183208014C>G | CA422114158 | LAMC2 | c.213C>G (p.Gly71=) | |
| 1 | g.183208014C>T | CA422114161 | LAMC2 | c.213C>T (p.Gly71=) | |
| 1 | g.183208015T>A | CA343670147 | LAMC2 | c.214T>A (p.Phe72Ile) | |
| 1 | g.183208015T>C | CA343670149 | LAMC2 | c.214T>C (p.Phe72Leu) | |
| 1 | g.183208015T>G | CA343670148 | LAMC2 | c.214T>G (p.Phe72Val) | |
| 1 | g.183208016T>A | CA343670150 | LAMC2 | c.215T>A (p.Phe72Tyr) | |
| 1 | g.183208016T>C | CA343670151 | LAMC2 | c.215T>C (p.Phe72Ser) | |
| 1 | g.183208016T>G | CA343670152 | LAMC2 | c.215T>G (p.Phe72Cys) | gnomAD v4 |
| 1 | g.183208017T>A | CA343670153 | LAMC2 | c.216T>A (p.Phe72Leu) | |
| 1 | g.183208017T>C | CA422114164 | LAMC2 | c.216T>C (p.Phe72=) | |
| 1 | g.183208017T>G | CA343670154 | LAMC2 | c.216T>G (p.Phe72Leu) | |
| 1 | g.183208018T>A | CA343670155 | LAMC2 | c.217T>A (p.Tyr73Asn) | |
| 1 | g.183208018T>C | CA343670156 | LAMC2 | c.217T>C (p.Tyr73His) | |
| 1 | g.183208018T>G | CA343670157 | LAMC2 | c.217T>G (p.Tyr73Asp) | |
| 1 | g.183208019A>C | CA343670158 | LAMC2 | c.218A>C (p.Tyr73Ser) | |
| 1 | g.183208019A>G | CA343670159 | LAMC2 | c.218A>G (p.Tyr73Cys) | |
| 1 | g.183208019A>T | CA343670160 | LAMC2 | c.218A>T (p.Tyr73Phe) | |
| 1 | g.183208020C>A | CA343670161 | LAMC2 | c.219C>A (p.Tyr73Ter) | ClinVar dbSNP |
| 1 | g.183208020C= | CA1211812120 | LAMC2 | c.219C= (p.Tyr73=) | |
| 1 | g.183208020C>G | CA343670162 | LAMC2 | c.219C>G (p.Tyr73Ter) | |
| 1 | g.183208020C>T | CA422114167 | LAMC2 | c.219C>T (p.Tyr73=) | |
| 1 | g.183208021C>A | CA422114168 | LAMC2 | c.220C>A (p.Arg74=) | |
| 1 | g.183208021C= | CA1211812121 | LAMC2 | c.220C= (p.Arg74=) | |
| 1 | g.183208021C>G | CA343670163 | LAMC2 | c.220C>G (p.Arg74Gly) | |
| 1 | g.183208021C>T | CA1282253 | LAMC2 | c.220C>T (p.Arg74Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183208022G>A | CA1282254 | LAMC2 | c.221G>A (p.Arg74Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183208022G>C | CA343670164 | LAMC2 | c.221G>C (p.Arg74Pro) | gnomAD v4 |
| 1 | g.183208022G= | CA1143760639 | LAMC2 | c.221G= (p.Arg74=) | |
| 1 | g.183208022G>T | CA343670167 | LAMC2 | c.221G>T (p.Arg74Leu) | |
| 1 | g.183208023G>A | CA422114173 | LAMC2 | c.222G>A (p.Arg74=) | ClinVar dbSNP |
| 1 | g.183208023G>C | CA422114174 | LAMC2 | c.222G>C (p.Arg74=) | |
| 1 | g.183208023G>T | CA422114175 | LAMC2 | c.222G>T (p.Arg74=) | ClinVar dbSNP |
| 1 | g.183208024C>A | CA343670171 | LAMC2 | c.223C>A (p.His75Asn) | |
| 1 | g.183208024C>G | CA343670175 | LAMC2 | c.223C>G (p.His75Asp) | |
| 1 | g.183208024C>T | CA343670177 | LAMC2 | c.223C>T (p.His75Tyr) | |
| 1 | g.183208025A>C | CA343670181 | LAMC2 | c.224A>C (p.His75Pro) | |
| 1 | g.183208025A>G | CA343670182 | LAMC2 | c.224A>G (p.His75Arg) | |
| 1 | g.183208025A>T | CA343670185 | LAMC2 | c.224A>T (p.His75Leu) | |
| 1 | g.183208026C>A | CA343670189 | LAMC2 | c.225C>A (p.His75Gln) | |
| 1 | g.183208026C= | CA1211812122 | LAMC2 | c.225C= (p.His75=) | |
| 1 | g.183208026C>G | CA33955426 | LAMC2 | c.225C>G (p.His75Gln) | dbSNP gnomAD v4 |
| 1 | g.183208026C>T | CA422114179 | LAMC2 | c.225C>T (p.His75=) | |
| 1 | g.183208026_183208028delinsCAG | CA1211812123 | LAMC2 | c.225_227delinsCAG (p.His75=) | |
| 1 | g.183208027A= | CA1211812124 | LAMC2 | c.226A= (p.Arg76=) | |
| 1 | g.183208027A>C | CA422114182 | LAMC2 | c.226A>C (p.Arg76=) | |
| 1 | g.183208027A>G | CA343670194 | LAMC2 | c.226A>G (p.Arg76Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183208027A>T | CA343670192 | LAMC2 | c.226A>T (p.Arg76Ter) | |
| 1 | g.183208030_183208031del | CA527260185 | LAMC2 | c.229_230del (p.Glu77LysfsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183208028G>A | CA343670196 | LAMC2 | c.227G>A (p.Arg76Lys) | |
| 1 | g.183208028G>C | CA343670199 | LAMC2 | c.227G>C (p.Arg76Thr) | |
| 1 | g.183208028G>T | CA343670202 | LAMC2 | c.227G>T (p.Arg76Ile) | |
| 1 | g.183208029A>C | CA343670204 | LAMC2 | c.228A>C (p.Arg76Ser) | |
| 1 | g.183208029A>G | CA422114184 | LAMC2 | c.228A>G (p.Arg76=) | |
| 1 | g.183208029A>T | CA343670205 | LAMC2 | c.228A>T (p.Arg76Ser) | |
| 1 | g.183208030G>A | CA343670209 | LAMC2 | c.229G>A (p.Glu77Lys) | |
| 1 | g.183208030G>C | CA343670211 | LAMC2 | c.229G>C (p.Glu77Gln) | |
| 1 | g.183208030G>T | CA343670213 | LAMC2 | c.229G>T (p.Glu77Ter) | |
| 1 | g.183208031A>C | CA343670216 | LAMC2 | c.230A>C (p.Glu77Ala) | |
| 1 | g.183208031A>G | CA343670223 | LAMC2 | c.230A>G (p.Glu77Gly) | gnomAD v4 |
| 1 | g.183208031A>T | CA343670225 | LAMC2 | c.230A>T (p.Glu77Val) | |
| 1 | g.183208033del | CA2649463391 | LAMC2 | c.232del (p.Arg78GlyfsTer?) | gnomAD v4 |
| 1 | g.183208032A>C | CA343670228 | LAMC2 | c.231A>C (p.Glu77Asp) | |
| 1 | g.183208032A>G | CA422114187 | LAMC2 | c.231A>G (p.Glu77=) | |
| 1 | g.183208032A>T | CA343670230 | LAMC2 | c.231A>T (p.Glu77Asp) | |
| 1 | g.183208033A>C | CA422114188 | LAMC2 | c.232A>C (p.Arg78=) | |
| 1 | g.183208033A>G | CA343670235 | LAMC2 | c.232A>G (p.Arg78Gly) | ClinVar gnomAD v4 |
| 1 | g.183208033A>T | CA343670233 | LAMC2 | c.232A>T (p.Arg78Trp) | |
| 1 | g.183208034G>A | CA343670239 | LAMC2 | c.233G>A (p.Arg78Lys) | dbSNP |
| 1 | g.183208034G>C | CA343670242 | LAMC2 | c.233G>C (p.Arg78Thr) | |
| 1 | g.183208034G>T | CA343670241 | LAMC2 | c.233G>T (p.Arg78Met) | |
| 1 | g.183208035G>A | CA422114191 | LAMC2 | c.234G>A (p.Arg78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183208035G>C | CA343670243 | LAMC2 | c.234G>C (p.Arg78Ser) | |
| 1 | g.183208035G= | CA1211812125 | LAMC2 | c.234G= (p.Arg78=) | |
| 1 | g.183208035G>T | CA343670244 | LAMC2 | c.234G>T (p.Arg78Ser) | |
| 1 | g.183208036G>A | CA343670246 | LAMC2 | c.235G>A (p.Asp79Asn) | |
| 1 | g.183208036G>C | CA343670250 | LAMC2 | c.235G>C (p.Asp79His) | gnomAD v4 |
| 1 | g.183208036G>T | CA343670248 | LAMC2 | c.235G>T (p.Asp79Tyr) | |
| 1 | g.183208037A>C | CA343670254 | LAMC2 | c.236A>C (p.Asp79Ala) | |
| 1 | g.183208037A>G | CA343670258 | LAMC2 | c.236A>G (p.Asp79Gly) | gnomAD v4 |
| 1 | g.183208037A>T | CA343670256 | LAMC2 | c.236A>T (p.Asp79Val) |