Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129427810T>A | CA365623989 | LAMA2 | c.5924T>A (p.Phe1975Tyr) c.6188T>A (p.Phe2063Tyr) c.6194T>A (p.Phe2065Tyr) c.4319T>A (p.Phe1440Tyr) | |
6 | g.129427810T>C | CA365623988 | LAMA2 | c.5924T>C (p.Phe1975Ser) c.6188T>C (p.Phe2063Ser) c.6194T>C (p.Phe2065Ser) c.4319T>C (p.Phe1440Ser) | |
6 | g.129427810T>G | CA365623987 | LAMA2 | c.5924T>G (p.Phe1975Cys) c.6188T>G (p.Phe2063Cys) c.6194T>G (p.Phe2065Cys) c.4319T>G (p.Phe1440Cys) | |
6 | g.129427811C>A | CA365623990 | LAMA2 | c.5925C>A (p.Phe1975Leu) c.6189C>A (p.Phe2063Leu) c.6195C>A (p.Phe2065Leu) c.4320C>A (p.Phe1440Leu) | |
6 | g.129427811C= | CA1663161659 | LAMA2 | c.5925C= (p.Phe1975=) c.6189C= (p.Phe2063=) c.6195C= (p.Phe2065=) c.4320C= (p.Phe1440=) | |
6 | g.129427811C>G | CA365623991 | LAMA2 | c.5925C>G (p.Phe1975Leu) c.6189C>G (p.Phe2063Leu) c.6195C>G (p.Phe2065Leu) c.4320C>G (p.Phe1440Leu) | |
6 | g.129427811C>T | CA451930771 | LAMA2 | c.5925C>T (p.Phe1975=) c.6189C>T (p.Phe2063=) c.6195C>T (p.Phe2065=) c.4320C>T (p.Phe1440=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129427812A= | CA1663161662 | LAMA2 | c.5926A= (p.Arg1976=) c.6190A= (p.Arg2064=) c.6196A= (p.Arg2066=) c.4321A= (p.Arg1441=) | |
6 | g.129427812A>C | CA451930776 | LAMA2 | c.5926A>C (p.Arg1976=) c.6190A>C (p.Arg2064=) c.6196A>C (p.Arg2066=) c.4321A>C (p.Arg1441=) | |
6 | g.129427812A>G | CA365623992 | LAMA2 | c.5926A>G (p.Arg1976Gly) c.6190A>G (p.Arg2064Gly) c.6196A>G (p.Arg2066Gly) c.4321A>G (p.Arg1441Gly) | |
6 | g.129427812A>T | CA3994031 | LAMA2 | c.5926A>T (p.Arg1976Trp) c.6190A>T (p.Arg2064Trp) c.6196A>T (p.Arg2066Trp) c.4321A>T (p.Arg1441Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427813G>A | CA365623993 | LAMA2 | c.5927G>A (p.Arg1976Lys) c.6191G>A (p.Arg2064Lys) c.6197G>A (p.Arg2066Lys) c.4322G>A (p.Arg1441Lys) | |
6 | g.129427813G>C | CA365623994 | LAMA2 | c.5927G>C (p.Arg1976Thr) c.6191G>C (p.Arg2064Thr) c.6197G>C (p.Arg2066Thr) c.4322G>C (p.Arg1441Thr) | |
6 | g.129427813G>T | CA365623995 | LAMA2 | c.5927G>T (p.Arg1976Met) c.6191G>T (p.Arg2064Met) c.6197G>T (p.Arg2066Met) c.4322G>T (p.Arg1441Met) | |
6 | g.129427814G>A | CA451930784 | LAMA2 | c.5928G>A (p.Arg1976=) c.6192G>A (p.Arg2064=) c.6198G>A (p.Arg2066=) c.4323G>A (p.Arg1441=) | ClinVar dbSNP |
6 | g.129427814G>C | CA365623996 | LAMA2 | c.5928G>C (p.Arg1976Ser) c.6192G>C (p.Arg2064Ser) c.6198G>C (p.Arg2066Ser) c.4323G>C (p.Arg1441Ser) | |
6 | g.129427814G>T | CA365623997 | LAMA2 | c.5928G>T (p.Arg1976Ser) c.6192G>T (p.Arg2064Ser) c.6198G>T (p.Arg2066Ser) c.4323G>T (p.Arg1441Ser) | |
6 | g.129427815A>C | CA365623998 | LAMA2 | c.5929A>C (p.Ile1977Leu) c.6193A>C (p.Ile2065Leu) c.6199A>C (p.Ile2067Leu) c.4324A>C (p.Ile1442Leu) | |
6 | g.129427815A>G | CA365623999 | LAMA2 | c.5929A>G (p.Ile1977Val) c.6193A>G (p.Ile2065Val) c.6199A>G (p.Ile2067Val) c.4324A>G (p.Ile1442Val) | ClinVar dbSNP gnomAD v4 |
6 | g.129427815A>T | CA365624000 | LAMA2 | c.5929A>T (p.Ile1977Phe) c.6193A>T (p.Ile2065Phe) c.6199A>T (p.Ile2067Phe) c.4324A>T (p.Ile1442Phe) | |
6 | g.129427816T>A | CA365624001 | LAMA2 | c.5930T>A (p.Ile1977Asn) c.6194T>A (p.Ile2065Asn) c.6200T>A (p.Ile2067Asn) c.4325T>A (p.Ile1442Asn) | |
6 | g.129427816T>C | CA365624003 | LAMA2 | c.5930T>C (p.Ile1977Thr) c.6194T>C (p.Ile2065Thr) c.6200T>C (p.Ile2067Thr) c.4325T>C (p.Ile1442Thr) | dbSNP |
6 | g.129427816T>G | CA365624002 | LAMA2 | c.5930T>G (p.Ile1977Ser) c.6194T>G (p.Ile2065Ser) c.6200T>G (p.Ile2067Ser) c.4325T>G (p.Ile1442Ser) | |
6 | g.129427816T= | CA1663161668 | LAMA2 | c.5930T= (p.Ile1977=) c.6194T= (p.Ile2065=) c.6200T= (p.Ile2067=) c.4325T= (p.Ile1442=) | |
6 | g.129427817T>A | CA451930790 | LAMA2 | c.5931T>A (p.Ile1977=) c.6195T>A (p.Ile2065=) c.6201T>A (p.Ile2067=) c.4326T>A (p.Ile1442=) | gnomAD v4 |
6 | g.129427817T>C | CA451930792 | LAMA2 | c.5931T>C (p.Ile1977=) c.6195T>C (p.Ile2065=) c.6201T>C (p.Ile2067=) c.4326T>C (p.Ile1442=) | dbSNP |
6 | g.129427817T>G | CA365624004 | LAMA2 | c.5931T>G (p.Ile1977Met) c.6195T>G (p.Ile2065Met) c.6201T>G (p.Ile2067Met) c.4326T>G (p.Ile1442Met) | |
6 | g.129427817T= | CA1663161676 | LAMA2 | c.5931T= (p.Ile1977=) c.6195T= (p.Ile2065=) c.6201T= (p.Ile2067=) c.4326T= (p.Ile1442=) | |
6 | g.129427818C>A | CA3994033 | LAMA2 | c.5932C>A (p.Leu1978Ile) c.6196C>A (p.Leu2066Ile) c.6202C>A (p.Leu2068Ile) c.4327C>A (p.Leu1443Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.129427818C= | CA1663161683 | LAMA2 | c.5932C= (p.Leu1978=) c.6196C= (p.Leu2066=) c.6202C= (p.Leu2068=) c.4327C= (p.Leu1443=) | |
6 | g.129427818C>G | CA365624005 | LAMA2 | c.5932C>G (p.Leu1978Val) c.6196C>G (p.Leu2066Val) c.6202C>G (p.Leu2068Val) c.4327C>G (p.Leu1443Val) | |
6 | g.129427818C>T | CA3994032 | LAMA2 | c.5932C>T (p.Leu1978Phe) c.6196C>T (p.Leu2066Phe) c.6202C>T (p.Leu2068Phe) c.4327C>T (p.Leu1443Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.129427819T>A | CA365624006 | LAMA2 | c.5933T>A (p.Leu1978His) c.6197T>A (p.Leu2066His) c.6203T>A (p.Leu2068His) c.4328T>A (p.Leu1443His) | |
6 | g.129427819T>C | CA365624007 | LAMA2 | c.5933T>C (p.Leu1978Pro) c.6197T>C (p.Leu2066Pro) c.6203T>C (p.Leu2068Pro) c.4328T>C (p.Leu1443Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427819T>G | CA365624008 | LAMA2 | c.5933T>G (p.Leu1978Arg) c.6197T>G (p.Leu2066Arg) c.6203T>G (p.Leu2068Arg) c.4328T>G (p.Leu1443Arg) | |
6 | g.129427819T= | CA1663161684 | LAMA2 | c.5933T= (p.Leu1978=) c.6197T= (p.Leu2066=) c.6203T= (p.Leu2068=) c.4328T= (p.Leu1443=) | |
6 | g.129427820T>A | CA451930799 | LAMA2 | c.5934T>A (p.Leu1978=) c.6198T>A (p.Leu2066=) c.6204T>A (p.Leu2068=) c.4329T>A (p.Leu1443=) | |
6 | g.129427820T>C | CA451930801 | LAMA2 | c.5934T>C (p.Leu1978=) c.6198T>C (p.Leu2066=) c.6204T>C (p.Leu2068=) c.4329T>C (p.Leu1443=) | |
6 | g.129427820T>G | CA451930803 | LAMA2 | c.5934T>G (p.Leu1978=) c.6198T>G (p.Leu2066=) c.6204T>G (p.Leu2068=) c.4329T>G (p.Leu1443=) | dbSNP |
6 | g.129427820T= | CA1663161688 | LAMA2 | c.5934T= (p.Leu1978=) c.6198T= (p.Leu2066=) c.6204T= (p.Leu2068=) c.4329T= (p.Leu1443=) | |
6 | g.129427821A= | CA1663161690 | LAMA2 | c.5935A= (p.Asn1979=) c.6199A= (p.Asn2067=) c.6205A= (p.Asn2069=) c.4330A= (p.Asn1444=) | |
6 | g.129427821A>C | CA365624009 | LAMA2 | c.5935A>C (p.Asn1979His) c.6199A>C (p.Asn2067His) c.6205A>C (p.Asn2069His) c.4330A>C (p.Asn1444His) | |
6 | g.129427821A>G | CA365624010 | LAMA2 | c.5935A>G (p.Asn1979Asp) c.6199A>G (p.Asn2067Asp) c.6205A>G (p.Asn2069Asp) c.4330A>G (p.Asn1444Asp) | COSMIC |
6 | g.129427821A>T | CA365624011 | LAMA2 | c.5935A>T (p.Asn1979Tyr) c.6199A>T (p.Asn2067Tyr) c.6205A>T (p.Asn2069Tyr) c.4330A>T (p.Asn1444Tyr) | ClinVar dbSNP gnomAD v4 |
6 | g.129427822A= | CA1663161693 | LAMA2 | c.5936A= (p.Asn1979=) c.6200A= (p.Asn2067=) c.6206A= (p.Asn2069=) c.4331A= (p.Asn1444=) | |
6 | g.129427822A>C | CA365624012 | LAMA2 | c.5936A>C (p.Asn1979Thr) c.6200A>C (p.Asn2067Thr) c.6206A>C (p.Asn2069Thr) c.4331A>C (p.Asn1444Thr) | |
6 | g.129427822A>G | CA365624013 | LAMA2 | c.5936A>G (p.Asn1979Ser) c.6200A>G (p.Asn2067Ser) c.6206A>G (p.Asn2069Ser) c.4331A>G (p.Asn1444Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427822A>T | CA365624014 | LAMA2 | c.5936A>T (p.Asn1979Ile) c.6200A>T (p.Asn2067Ile) c.6206A>T (p.Asn2069Ile) c.4331A>T (p.Asn1444Ile) | |
6 | g.129427823C>A | CA365624015 | LAMA2 | c.5937C>A (p.Asn1979Lys) c.6201C>A (p.Asn2067Lys) c.6207C>A (p.Asn2069Lys) c.4332C>A (p.Asn1444Lys) | |
6 | g.129427823C= | CA1663161695 | LAMA2 | c.5937C= (p.Asn1979=) c.6201C= (p.Asn2067=) c.6207C= (p.Asn2069=) c.4332C= (p.Asn1444=) | |
6 | g.129427823C>G | CA146909063 | LAMA2 | c.5937C>G (p.Asn1979Lys) c.6201C>G (p.Asn2067Lys) c.6207C>G (p.Asn2069Lys) c.4332C>G (p.Asn1444Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427823C>T | CA3994034 | LAMA2 | c.5937C>T (p.Asn1979=) c.6201C>T (p.Asn2067=) c.6207C>T (p.Asn2069=) c.4332C>T (p.Asn1444=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.129427824G>A | CA3994035 | LAMA2 | c.5938G>A (p.Glu1980Lys) c.6202G>A (p.Glu2068Lys) c.6208G>A (p.Glu2070Lys) c.4333G>A (p.Glu1445Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.129427824G>C | CA365624017 | LAMA2 | c.5938G>C (p.Glu1980Gln) c.6202G>C (p.Glu2068Gln) c.6208G>C (p.Glu2070Gln) c.4333G>C (p.Glu1445Gln) | |
6 | g.129427824G= | CA1663161699 | LAMA2 | c.5938G= (p.Glu1980=) c.6202G= (p.Glu2068=) c.6208G= (p.Glu2070=) c.4333G= (p.Glu1445=) | |
6 | g.129427824G>T | CA365624016 | LAMA2 | c.5938G>T (p.Glu1980Ter) c.6202G>T (p.Glu2068Ter) c.6208G>T (p.Glu2070Ter) c.4333G>T (p.Glu1445Ter) | |
6 | g.129427825A>C | CA365624018 | LAMA2 | c.5939A>C (p.Glu1980Ala) c.6203A>C (p.Glu2068Ala) c.6209A>C (p.Glu2070Ala) c.4334A>C (p.Glu1445Ala) | |
6 | g.129427825A>G | CA365624019 | LAMA2 | c.5939A>G (p.Glu1980Gly) c.6203A>G (p.Glu2068Gly) c.6209A>G (p.Glu2070Gly) c.4334A>G (p.Glu1445Gly) | |
6 | g.129427825A>T | CA365624020 | LAMA2 | c.5939A>T (p.Glu1980Val) c.6203A>T (p.Glu2068Val) c.6209A>T (p.Glu2070Val) c.4334A>T (p.Glu1445Val) | COSMIC |
6 | g.129427828_129427832del | CA2578737525 | LAMA2 | c.5942_5946del (p.Ala1981GlufsTer5) c.6206_6210del (p.Ala2069GlufsTer5) c.6212_6216del (p.Ala2071GlufsTer5) c.4337_4341del (p.Ala1446GlufsTer5) | |
6 | g.129427826A= | CA1663161707 | LAMA2 | c.5940A= (p.Glu1980=) c.6204A= (p.Glu2068=) c.6210A= (p.Glu2070=) c.4335A= (p.Glu1445=) | |
6 | g.129427826A>C | CA365624021 | LAMA2 | c.5940A>C (p.Glu1980Asp) c.6204A>C (p.Glu2068Asp) c.6210A>C (p.Glu2070Asp) c.4335A>C (p.Glu1445Asp) | |
6 | g.129427826A>G | CA451930849 | LAMA2 | c.5940A>G (p.Glu1980=) c.6204A>G (p.Glu2068=) c.6210A>G (p.Glu2070=) c.4335A>G (p.Glu1445=) | ClinVar dbSNP |
6 | g.129427826A>T | CA365624022 | LAMA2 | c.5940A>T (p.Glu1980Asp) c.6204A>T (p.Glu2068Asp) c.6210A>T (p.Glu2070Asp) c.4335A>T (p.Glu1445Asp) | |
6 | g.129427827G>A | CA3994036 | LAMA2 | c.5941G>A (p.Ala1981Thr) c.6205G>A (p.Ala2069Thr) c.6211G>A (p.Ala2071Thr) c.4336G>A (p.Ala1446Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427827G>C | CA365624023 | LAMA2 | c.5941G>C (p.Ala1981Pro) c.6205G>C (p.Ala2069Pro) c.6211G>C (p.Ala2071Pro) c.4336G>C (p.Ala1446Pro) | |
6 | g.129427827G= | CA1663161710 | LAMA2 | c.5941G= (p.Ala1981=) c.6205G= (p.Ala2069=) c.6211G= (p.Ala2071=) c.4336G= (p.Ala1446=) | |
6 | g.129427827G>T | CA365624024 | LAMA2 | c.5941G>T (p.Ala1981Ser) c.6205G>T (p.Ala2069Ser) c.6211G>T (p.Ala2071Ser) c.4336G>T (p.Ala1446Ser) | |
6 | g.129427828C>A | CA365624025 | LAMA2 | c.5942C>A (p.Ala1981Asp) c.6206C>A (p.Ala2069Asp) c.6212C>A (p.Ala2071Asp) c.4337C>A (p.Ala1446Asp) | |
6 | g.129427828C>G | CA365624026 | LAMA2 | c.5942C>G (p.Ala1981Gly) c.6206C>G (p.Ala2069Gly) c.6212C>G (p.Ala2071Gly) c.4337C>G (p.Ala1446Gly) | |
6 | g.129427828C>T | CA365624027 | LAMA2 | c.5942C>T (p.Ala1981Val) c.6206C>T (p.Ala2069Val) c.6212C>T (p.Ala2071Val) c.4337C>T (p.Ala1446Val) | |
6 | g.129427829C>A | CA451930859 | LAMA2 | c.5943C>A (p.Ala1981=) c.6207C>A (p.Ala2069=) c.6213C>A (p.Ala2071=) c.4338C>A (p.Ala1446=) | |
6 | g.129427829C= | CA1663161716 | LAMA2 | c.5943C= (p.Ala1981=) c.6207C= (p.Ala2069=) c.6213C= (p.Ala2071=) c.4338C= (p.Ala1446=) | |
6 | g.129427829C>G | CA451930863 | LAMA2 | c.5943C>G (p.Ala1981=) c.6207C>G (p.Ala2069=) c.6213C>G (p.Ala2071=) c.4338C>G (p.Ala1446=) | |
6 | g.129427829C>T | CA451930865 | LAMA2 | c.5943C>T (p.Ala1981=) c.6207C>T (p.Ala2069=) c.6213C>T (p.Ala2071=) c.4338C>T (p.Ala1446=) | dbSNP |
6 | g.129427830A= | CA1663161719 | LAMA2 | c.5944A= (p.Lys1982=) c.6208A= (p.Lys2070=) c.6214A= (p.Lys2072=) c.4339A= (p.Lys1447=) | |
6 | g.129427830A>C | CA365624028 | LAMA2 | c.5944A>C (p.Lys1982Gln) c.6208A>C (p.Lys2070Gln) c.6214A>C (p.Lys2072Gln) c.4339A>C (p.Lys1447Gln) | |
6 | g.129427830A>G | CA365624029 | LAMA2 | c.5944A>G (p.Lys1982Glu) c.6208A>G (p.Lys2070Glu) c.6214A>G (p.Lys2072Glu) c.4339A>G (p.Lys1447Glu) | |
6 | g.129427830A>T | CA365624030 | LAMA2 | c.5944A>T (p.Lys1982Ter) c.6208A>T (p.Lys2070Ter) c.6214A>T (p.Lys2072Ter) c.4339A>T (p.Lys1447Ter) | ClinVar dbSNP |
6 | g.129427831A= | CA1663161729 | LAMA2 | c.5945A= (p.Lys1982=) c.6209A= (p.Lys2070=) c.6215A= (p.Lys2072=) c.4340A= (p.Lys1447=) | |
6 | g.129427831A>C | CA365624032 | LAMA2 | c.5945A>C (p.Lys1982Thr) c.6209A>C (p.Lys2070Thr) c.6215A>C (p.Lys2072Thr) c.4340A>C (p.Lys1447Thr) | |
6 | g.129427831A>G | CA146909092 | LAMA2 | c.5945A>G (p.Lys1982Arg) c.6209A>G (p.Lys2070Arg) c.6215A>G (p.Lys2072Arg) c.4340A>G (p.Lys1447Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427831A>T | CA365624031 | LAMA2 | c.5945A>T (p.Lys1982Met) c.6209A>T (p.Lys2070Met) c.6215A>T (p.Lys2072Met) c.4340A>T (p.Lys1447Met) | |
6 | g.129427832G>A | CA451930879 | LAMA2 | c.5946G>A (p.Lys1982=) c.6210G>A (p.Lys2070=) c.6216G>A (p.Lys2072=) c.4341G>A (p.Lys1447=) | dbSNP |
6 | g.129427832G>C | CA365624033 | LAMA2 | c.5946G>C (p.Lys1982Asn) c.6210G>C (p.Lys2070Asn) c.6216G>C (p.Lys2072Asn) c.4341G>C (p.Lys1447Asn) | |
6 | g.129427832G= | CA1663161733 | LAMA2 | c.5946G= (p.Lys1982=) c.6210G= (p.Lys2070=) c.6216G= (p.Lys2072=) c.4341G= (p.Lys1447=) | |
6 | g.129427832G>T | CA365624034 | LAMA2 | c.5946G>T (p.Lys1982Asn) c.6210G>T (p.Lys2070Asn) c.6216G>T (p.Lys2072Asn) c.4341G>T (p.Lys1447Asn) | |
6 | g.129427833A>C | CA365624035 | LAMA2 | c.5947A>C (p.Lys1983Gln) c.6211A>C (p.Lys2071Gln) c.6217A>C (p.Lys2073Gln) c.4342A>C (p.Lys1448Gln) | gnomAD v4 |
6 | g.129427833A>G | CA365624036 | LAMA2 | c.5947A>G (p.Lys1983Glu) c.6211A>G (p.Lys2071Glu) c.6217A>G (p.Lys2073Glu) c.4342A>G (p.Lys1448Glu) | |
6 | g.129427833A>T | CA365624037 | LAMA2 | c.5947A>T (p.Lys1983Ter) c.6211A>T (p.Lys2071Ter) c.6217A>T (p.Lys2073Ter) c.4342A>T (p.Lys1448Ter) | gnomAD v4 |
6 | g.129427834A>C | CA365624038 | LAMA2 | c.5948A>C (p.Lys1983Thr) c.6212A>C (p.Lys2071Thr) c.6218A>C (p.Lys2073Thr) c.4343A>C (p.Lys1448Thr) | |
6 | g.129427834A>G | CA365624039 | LAMA2 | c.5948A>G (p.Lys1983Arg) c.6212A>G (p.Lys2071Arg) c.6218A>G (p.Lys2073Arg) c.4343A>G (p.Lys1448Arg) | |
6 | g.129427834A>T | CA365624040 | LAMA2 | c.5948A>T (p.Lys1983Met) c.6212A>T (p.Lys2071Met) c.6218A>T (p.Lys2073Met) c.4343A>T (p.Lys1448Met) | |
6 | g.129427835G>A | CA451930890 | LAMA2 | c.5949G>A (p.Lys1983=) c.6213G>A (p.Lys2071=) c.6219G>A (p.Lys2073=) c.4344G>A (p.Lys1448=) | |
6 | g.129427835G>C | CA3994037 | LAMA2 | c.5949G>C (p.Lys1983Asn) c.6213G>C (p.Lys2071Asn) c.6219G>C (p.Lys2073Asn) c.4344G>C (p.Lys1448Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427835G= | CA1663161742 | LAMA2 | c.5949G= (p.Lys1983=) c.6213G= (p.Lys2071=) c.6219G= (p.Lys2073=) c.4344G= (p.Lys1448=) | |
6 | g.129427835G>T | CA365624041 | LAMA2 | c.5949G>T (p.Lys1983Asn) c.6213G>T (p.Lys2071Asn) c.6219G>T (p.Lys2073Asn) c.4344G>T (p.Lys1448Asn) | |
6 | g.129427836T>A | CA365624042 | LAMA2 | c.5950T>A (p.Leu1984Ile) c.6214T>A (p.Leu2072Ile) c.6220T>A (p.Leu2074Ile) c.4345T>A (p.Leu1449Ile) | |
6 | g.129427836T>C | CA3994038 | LAMA2 | c.5950T>C (p.Leu1984=) c.6214T>C (p.Leu2072=) c.6220T>C (p.Leu2074=) c.4345T>C (p.Leu1449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427836T>G | CA365624043 | LAMA2 | c.5950T>G (p.Leu1984Val) c.6214T>G (p.Leu2072Val) c.6220T>G (p.Leu2074Val) c.4345T>G (p.Leu1449Val) | |
6 | g.129427836T= | CA1663161749 | LAMA2 | c.5950T= (p.Leu1984=) c.6214T= (p.Leu2072=) c.6220T= (p.Leu2074=) c.4345T= (p.Leu1449=) | |
6 | g.129427837T>A | CA365624046 | LAMA2 | c.5951T>A (p.Leu1984Ter) c.6215T>A (p.Leu2072Ter) c.6221T>A (p.Leu2074Ter) c.4346T>A (p.Leu1449Ter) | |
6 | g.129427837T>C | CA365624044 | LAMA2 | c.5951T>C (p.Leu1984Ser) c.6215T>C (p.Leu2072Ser) c.6221T>C (p.Leu2074Ser) c.4346T>C (p.Leu1449Ser) | |
6 | g.129427837T>G | CA365624045 | LAMA2 | c.5951T>G (p.Leu1984Ter) c.6215T>G (p.Leu2072Ter) c.6221T>G (p.Leu2074Ter) c.4346T>G (p.Leu1449Ter) | |
6 | g.129427838A= | CA1663161754 | LAMA2 | c.5952A= (p.Leu1984=) c.6216A= (p.Leu2072=) c.6222A= (p.Leu2074=) c.4347A= (p.Leu1449=) | |
6 | g.129427838A>C | CA365624047 | LAMA2 | c.5952A>C (p.Leu1984Phe) c.6216A>C (p.Leu2072Phe) c.6222A>C (p.Leu2074Phe) c.4347A>C (p.Leu1449Phe) | |
6 | g.129427838A>G | CA451930912 | LAMA2 | c.5952A>G (p.Leu1984=) c.6216A>G (p.Leu2072=) c.6222A>G (p.Leu2074=) c.4347A>G (p.Leu1449=) | |
6 | g.129427838A>T | CA365624048 | LAMA2 | c.5952A>T (p.Leu1984Phe) c.6216A>T (p.Leu2072Phe) c.6222A>T (p.Leu2074Phe) c.4347A>T (p.Leu1449Phe) | |
6 | g.129427838dup | CA913109483 | LAMA2 | c.5952dup (p.Ala1985SerfsTer3) c.6216dup (p.Ala2073SerfsTer3) c.6222dup (p.Ala2075SerfsTer3) c.4347dup (p.Ala1450SerfsTer3) | |
6 | g.129427839G>A | CA365624049 | LAMA2 | c.5953G>A (p.Ala1985Thr) c.6217G>A (p.Ala2073Thr) c.6223G>A (p.Ala2075Thr) c.4348G>A (p.Ala1450Thr) | |
6 | g.129427839G>C | CA365624050 | LAMA2 | c.5953G>C (p.Ala1985Pro) c.6217G>C (p.Ala2073Pro) c.6223G>C (p.Ala2075Pro) c.4348G>C (p.Ala1450Pro) | |
6 | g.129427839G>T | CA365624051 | LAMA2 | c.5953G>T (p.Ala1985Ser) c.6217G>T (p.Ala2073Ser) c.6223G>T (p.Ala2075Ser) c.4348G>T (p.Ala1450Ser) | COSMIC |
6 | g.129427840_129427848dup | CA658822374 | LAMA2 | c.5954_5962dup (p.Asp1987_Val1988insAlaAsnAsp) c.6218_6226dup (p.Asp2075_Val2076insAlaAsnAsp) c.6224_6232dup (p.Asp2077_Val2078insAlaAsnAsp) c.4349_4357dup (p.Asp1452_Val1453insAlaAsnAsp) | ClinVar dbSNP gnomAD v4 |
6 | g.129427840C>A | CA365624052 | LAMA2 | c.5954C>A (p.Ala1985Glu) c.6218C>A (p.Ala2073Glu) c.6224C>A (p.Ala2075Glu) c.4349C>A (p.Ala1450Glu) | |
6 | g.129427840C>G | CA365624053 | LAMA2 | c.5954C>G (p.Ala1985Gly) c.6218C>G (p.Ala2073Gly) c.6224C>G (p.Ala2075Gly) c.4349C>G (p.Ala1450Gly) | gnomAD v4 |
6 | g.129427840C>T | CA365624054 | LAMA2 | c.5954C>T (p.Ala1985Val) c.6218C>T (p.Ala2073Val) c.6224C>T (p.Ala2075Val) c.4349C>T (p.Ala1450Val) | gnomAD v4 |
6 | g.129427841A>C | CA451930930 | LAMA2 | c.5955A>C (p.Ala1985=) c.6219A>C (p.Ala2073=) c.6225A>C (p.Ala2075=) c.4350A>C (p.Ala1450=) | |
6 | g.129427841A>G | CA451930933 | LAMA2 | c.5955A>G (p.Ala1985=) c.6219A>G (p.Ala2073=) c.6225A>G (p.Ala2075=) c.4350A>G (p.Ala1450=) | ClinVar gnomAD v4 |
6 | g.129427841A>T | CA451930942 | LAMA2 | c.5955A>T (p.Ala1985=) c.6219A>T (p.Ala2073=) c.6225A>T (p.Ala2075=) c.4350A>T (p.Ala1450=) | |
6 | g.129427842A>C | CA365624055 | LAMA2 | c.5956A>C (p.Asn1986His) c.6220A>C (p.Asn2074His) c.6226A>C (p.Asn2076His) c.4351A>C (p.Asn1451His) | |
6 | g.129427842A>G | CA365624056 | LAMA2 | c.5956A>G (p.Asn1986Asp) c.6220A>G (p.Asn2074Asp) c.6226A>G (p.Asn2076Asp) c.4351A>G (p.Asn1451Asp) | |
6 | g.129427842A>T | CA365624057 | LAMA2 | c.5956A>T (p.Asn1986Tyr) c.6220A>T (p.Asn2074Tyr) c.6226A>T (p.Asn2076Tyr) c.4351A>T (p.Asn1451Tyr) | |
6 | g.129427843A= | CA1663161765 | LAMA2 | c.5957A= (p.Asn1986=) c.6221A= (p.Asn2074=) c.6227A= (p.Asn2076=) c.4352A= (p.Asn1451=) | |
6 | g.129427843A>C | CA365624058 | LAMA2 | c.5957A>C (p.Asn1986Thr) c.6221A>C (p.Asn2074Thr) c.6227A>C (p.Asn2076Thr) c.4352A>C (p.Asn1451Thr) | |
6 | g.129427843A>G | CA365624060 | LAMA2 | c.5957A>G (p.Asn1986Ser) c.6221A>G (p.Asn2074Ser) c.6227A>G (p.Asn2076Ser) c.4352A>G (p.Asn1451Ser) | dbSNP |
6 | g.129427843A>T | CA365624059 | LAMA2 | c.5957A>T (p.Asn1986Ile) c.6221A>T (p.Asn2074Ile) c.6227A>T (p.Asn2076Ile) c.4352A>T (p.Asn1451Ile) | |
6 | g.129427844T>A | CA365624061 | LAMA2 | c.5958T>A (p.Asn1986Lys) c.6222T>A (p.Asn2074Lys) c.6228T>A (p.Asn2076Lys) c.4353T>A (p.Asn1451Lys) | |
6 | g.129427844T>C | CA451930959 | LAMA2 | c.5958T>C (p.Asn1986=) c.6222T>C (p.Asn2074=) c.6228T>C (p.Asn2076=) c.4353T>C (p.Asn1451=) | ClinVar dbSNP gnomAD v4 |
6 | g.129427844T>G | CA365624062 | LAMA2 | c.5958T>G (p.Asn1986Lys) c.6222T>G (p.Asn2074Lys) c.6228T>G (p.Asn2076Lys) c.4353T>G (p.Asn1451Lys) | |
6 | g.129427845G>A | CA365624063 | LAMA2 | c.5959G>A (p.Asp1987Asn) c.6223G>A (p.Asp2075Asn) c.6229G>A (p.Asp2077Asn) c.4354G>A (p.Asp1452Asn) | |
6 | g.129427845G>C | CA365624064 | LAMA2 | c.5959G>C (p.Asp1987His) c.6223G>C (p.Asp2075His) c.6229G>C (p.Asp2077His) c.4354G>C (p.Asp1452His) | |
6 | g.129427845G>T | CA365624065 | LAMA2 | c.5959G>T (p.Asp1987Tyr) c.6223G>T (p.Asp2075Tyr) c.6229G>T (p.Asp2077Tyr) c.4354G>T (p.Asp1452Tyr) | |
6 | g.129427846A= | CA1663161776 | LAMA2 | c.5960A= (p.Asp1987=) c.6224A= (p.Asp2075=) c.6230A= (p.Asp2077=) c.4355A= (p.Asp1452=) | |
6 | g.129427846A>C | CA3994039 | LAMA2 | c.5960A>C (p.Asp1987Ala) c.6224A>C (p.Asp2075Ala) c.6230A>C (p.Asp2077Ala) c.4355A>C (p.Asp1452Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427846A>G | CA365624066 | LAMA2 | c.5960A>G (p.Asp1987Gly) c.6224A>G (p.Asp2075Gly) c.6230A>G (p.Asp2077Gly) c.4355A>G (p.Asp1452Gly) | dbSNP |
6 | g.129427846A>T | CA365624067 | LAMA2 | c.5960A>T (p.Asp1987Val) c.6224A>T (p.Asp2075Val) c.6230A>T (p.Asp2077Val) c.4355A>T (p.Asp1452Val) | gnomAD v4 COSMIC |
6 | g.129427847T>A | CA365624068 | LAMA2 | c.5961T>A (p.Asp1987Glu) c.6225T>A (p.Asp2075Glu) c.6231T>A (p.Asp2077Glu) c.4356T>A (p.Asp1452Glu) | |
6 | g.129427847T>C | CA3994040 | LAMA2 | c.5961T>C (p.Asp1987=) c.6225T>C (p.Asp2075=) c.6231T>C (p.Asp2077=) c.4356T>C (p.Asp1452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427847T>G | CA365624069 | LAMA2 | c.5961T>G (p.Asp1987Glu) c.6225T>G (p.Asp2075Glu) c.6231T>G (p.Asp2077Glu) c.4356T>G (p.Asp1452Glu) | |
6 | g.129427847T= | CA1663161780 | LAMA2 | c.5961T= (p.Asp1987=) c.6225T= (p.Asp2075=) c.6231T= (p.Asp2077=) c.4356T= (p.Asp1452=) | |
6 | g.129427848G>A | CA365624070 | LAMA2 | c.5962G>A (p.Val1988Ile) c.6226G>A (p.Val2076Ile) c.6232G>A (p.Val2078Ile) c.4357G>A (p.Val1453Ile) | |
6 | g.129427848G>C | CA365624071 | LAMA2 | c.5962G>C (p.Val1988Leu) c.6226G>C (p.Val2076Leu) c.6232G>C (p.Val2078Leu) c.4357G>C (p.Val1453Leu) | |
6 | g.129427848G= | CA1663161787 | LAMA2 | c.5962G= (p.Val1988=) c.6226G= (p.Val2076=) c.6232G= (p.Val2078=) c.4357G= (p.Val1453=) | |
6 | g.129427848G>T | CA3994041 | LAMA2 | c.5962G>T (p.Val1988Leu) c.6226G>T (p.Val2076Leu) c.6232G>T (p.Val2078Leu) c.4357G>T (p.Val1453Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427848_129427849delinsTG | CA2573052585 | LAMA2 | c.5962_5963delinsTG (p.Val1988Ter) c.6226_6227delinsTG (p.Val2076Ter) c.6232_6233delinsTG (p.Val2078Ter) c.4357_4358delinsTG (p.Val1453Ter) | ClinVar dbSNP |
6 | g.129427849T>A | CA365624073 | LAMA2 | c.5963T>A (p.Val1988Glu) c.6227T>A (p.Val2076Glu) c.6233T>A (p.Val2078Glu) c.4358T>A (p.Val1453Glu) | |
6 | g.129427849T>C | CA365624072 | LAMA2 | c.5963T>C (p.Val1988Ala) c.6227T>C (p.Val2076Ala) c.6233T>C (p.Val2078Ala) c.4358T>C (p.Val1453Ala) | |
6 | g.129427849T>G | CA3994042 | LAMA2 | c.5963T>G (p.Val1988Gly) c.6227T>G (p.Val2076Gly) c.6233T>G (p.Val2078Gly) c.4358T>G (p.Val1453Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427849T= | CA1663161793 | LAMA2 | c.5963T= (p.Val1988=) c.6227T= (p.Val2076=) c.6233T= (p.Val2078=) c.4358T= (p.Val1453=) | |
6 | g.129427850A= | CA1663161801 | LAMA2 | c.5964A= (p.Val1988=) c.6228A= (p.Val2076=) c.6234A= (p.Val2078=) c.4359A= (p.Val1453=) | |
6 | g.129427850A>C | CA451930994 | LAMA2 | c.5964A>C (p.Val1988=) c.6228A>C (p.Val2076=) c.6234A>C (p.Val2078=) c.4359A>C (p.Val1453=) | |
6 | g.129427850A>G | CA451930999 | LAMA2 | c.5964A>G (p.Val1988=) c.6228A>G (p.Val2076=) c.6234A>G (p.Val2078=) c.4359A>G (p.Val1453=) | ClinVar dbSNP gnomAD v4 |
6 | g.129427850A>T | CA451931001 | LAMA2 | c.5964A>T (p.Val1988=) c.6228A>T (p.Val2076=) c.6234A>T (p.Val2078=) c.4359A>T (p.Val1453=) | |
6 | g.129427853del | CA2680309323 | LAMA2 | c.5967del (p.Glu1990LysfsTer6) c.6231del (p.Glu2078LysfsTer6) c.6237del (p.Glu2080LysfsTer6) c.4362del (p.Glu1455LysfsTer6) | gnomAD v4 |
6 | g.129427851A>C | CA365624074 | LAMA2 | c.5965A>C (p.Lys1989Gln) c.6229A>C (p.Lys2077Gln) c.6235A>C (p.Lys2079Gln) c.4360A>C (p.Lys1454Gln) | |
6 | g.129427851A>G | CA365624075 | LAMA2 | c.5965A>G (p.Lys1989Glu) c.6229A>G (p.Lys2077Glu) c.6235A>G (p.Lys2079Glu) c.4360A>G (p.Lys1454Glu) | |
6 | g.129427851A>T | CA365624076 | LAMA2 | c.5965A>T (p.Lys1989Ter) c.6229A>T (p.Lys2077Ter) c.6235A>T (p.Lys2079Ter) c.4360A>T (p.Lys1454Ter) | |
6 | g.129427852A>C | CA365624077 | LAMA2 | c.5966A>C (p.Lys1989Thr) c.6230A>C (p.Lys2077Thr) c.6236A>C (p.Lys2079Thr) c.4361A>C (p.Lys1454Thr) | |
6 | g.129427852A>G | CA365624078 | LAMA2 | c.5966A>G (p.Lys1989Arg) c.6230A>G (p.Lys2077Arg) c.6236A>G (p.Lys2079Arg) c.4361A>G (p.Lys1454Arg) | |
6 | g.129427852A>T | CA365624079 | LAMA2 | c.5966A>T (p.Lys1989Ile) c.6230A>T (p.Lys2077Ile) c.6236A>T (p.Lys2079Ile) c.4361A>T (p.Lys1454Ile) | |
6 | g.129427853A>C | CA365624080 | LAMA2 | c.5967A>C (p.Lys1989Asn) c.6231A>C (p.Lys2077Asn) c.6237A>C (p.Lys2079Asn) c.4362A>C (p.Lys1454Asn) | |
6 | g.129427853A>G | CA451931016 | LAMA2 | c.5967A>G (p.Lys1989=) c.6231A>G (p.Lys2077=) c.6237A>G (p.Lys2079=) c.4362A>G (p.Lys1454=) | gnomAD v4 |
6 | g.129427853A>T | CA365624081 | LAMA2 | c.5967A>T (p.Lys1989Asn) c.6231A>T (p.Lys2077Asn) c.6237A>T (p.Lys2079Asn) c.4362A>T (p.Lys1454Asn) | |
6 | g.129427854G>A | CA365624082 | LAMA2 | c.5968G>A (p.Glu1990Lys) c.6232G>A (p.Glu2078Lys) c.6238G>A (p.Glu2080Lys) c.4363G>A (p.Glu1455Lys) | gnomAD v4 |
6 | g.129427854G>C | CA365624083 | LAMA2 | c.5968G>C (p.Glu1990Gln) c.6232G>C (p.Glu2078Gln) c.6238G>C (p.Glu2080Gln) c.4363G>C (p.Glu1455Gln) | gnomAD v4 |
6 | g.129427854G= | CA1663161811 | LAMA2 | c.5968G= (p.Glu1990=) c.6232G= (p.Glu2078=) c.6238G= (p.Glu2080=) c.4363G= (p.Glu1455=) | |
6 | g.129427854G>T | CA365624084 | LAMA2 | c.5968G>T (p.Glu1990Ter) c.6232G>T (p.Glu2078Ter) c.6238G>T (p.Glu2080Ter) c.4363G>T (p.Glu1455Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129427855del | CA2680309324 | LAMA2 | c.5968+1del c.6232+1del c.6238+1del c.4363+1del | gnomAD v4 |
6 | g.129427855G>A | CA365624087 | LAMA2 | c.5968+1G>A (n.5968+1G>A) c.6232+1G>A (n.6232+1G>A) c.6238+1G>A (n.6238+1G>A) c.4363+1G>A (n.4363+1G>A) | ClinVar dbSNP |
6 | g.129427855G>C | CA365624086 | LAMA2 | c.5968+1G>C (n.5968+1G>C) c.6232+1G>C (n.6232+1G>C) c.6238+1G>C (n.6238+1G>C) c.4363+1G>C (n.4363+1G>C) | |
6 | g.129427855G= | CA1663161814 | LAMA2 | c.5968+1G= (n.5968+1G=) c.6232+1G= (n.6232+1G=) c.6238+1G= (n.6238+1G=) c.4363+1G= (n.4363+1G=) | |
6 | g.129427855G>T | CA365624085 | LAMA2 | c.5968+1G>T (n.5968+1G>T) c.6232+1G>T (n.6232+1G>T) c.6238+1G>T (n.6238+1G>T) c.4363+1G>T (n.4363+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427856T>A | CA365624088 | LAMA2 | c.5968+2T>A (n.5968+2T>A) c.6232+2T>A (n.6232+2T>A) c.6238+2T>A (n.6238+2T>A) c.4363+2T>A (n.4363+2T>A) | |
6 | g.129427856T>C | CA365624089 | LAMA2 | c.5968+2T>C (n.5968+2T>C) c.6232+2T>C (n.6232+2T>C) c.6238+2T>C (n.6238+2T>C) c.4363+2T>C (n.4363+2T>C) | |
6 | g.129427856T>G | CA365624090 | LAMA2 | c.5968+2T>G (n.5968+2T>G) c.6232+2T>G (n.6232+2T>G) c.6238+2T>G (n.6238+2T>G) c.4363+2T>G (n.4363+2T>G) | |
6 | g.129427857C>A | CA2680309325 | LAMA2 | c.5968+3C>A (n.5968+3C>A) c.6232+3C>A (n.6232+3C>A) c.6238+3C>A (n.6238+3C>A) c.4363+3C>A (n.4363+3C>A) | gnomAD v4 |
6 | g.129427858A>G | CA2680309326 | LAMA2 | c.5968+4A>G (n.5968+4A>G) c.6232+4A>G (n.6232+4A>G) c.6238+4A>G (n.6238+4A>G) c.4363+4A>G (n.4363+4A>G) | gnomAD v4 |
6 | g.129427858_129427860delinsAGT | CA1663161817 | LAMA2 | c.5968+4_5968+6delinsAGT (n.5968+4_5968+6delinsAGT) c.6232+4_6232+6delinsAGT (n.6232+4_6232+6delinsAGT) c.6238+4_6238+6delinsAGT (n.6238+4_6238+6delinsAGT) c.4363+4_4363+6delinsAGT (n.4363+4_4363+6delinsAGT) | |
6 | g.129427859G>A | CA818850035 | LAMA2 | c.5968+5G>A (n.5968+5G>A) c.6232+5G>A (n.6232+5G>A) c.6238+5G>A (n.6238+5G>A) c.4363+5G>A (n.4363+5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427859G>C | CA1139532851 | LAMA2 | c.5968+5G>C (n.5968+5G>C) c.6232+5G>C (n.6232+5G>C) c.6238+5G>C (n.6238+5G>C) c.4363+5G>C (n.4363+5G>C) | ClinVar dbSNP gnomAD v4 |
6 | g.129427859G= | CA1663161821 | LAMA2 | c.5968+5G= (n.5968+5G=) c.6232+5G= (n.6232+5G=) c.6238+5G= (n.6238+5G=) c.4363+5G= (n.4363+5G=) | |
6 | g.129427862_129427863del | CA1663161822 | LAMA2 | c.5968+8_5968+9del (n.5968+8_5968+9del) c.6232+8_6232+9del (n.6232+8_6232+9del) c.6238+8_6238+9del (n.6238+8_6238+9del) c.4363+8_4363+9del (n.4363+8_4363+9del) | dbSNP |
6 | g.129427860T>C | CA2578737526 | LAMA2 | c.5968+6T>C (n.5968+6T>C) c.6232+6T>C (n.6232+6T>C) c.6238+6T>C (n.6238+6T>C) c.4363+6T>C (n.4363+6T>C) | gnomAD v4 |
6 | g.129427861G>A | CA2680309327 | LAMA2 | c.5968+7G>A (n.5968+7G>A) c.6232+7G>A (n.6232+7G>A) c.6238+7G>A (n.6238+7G>A) c.4363+7G>A (n.4363+7G>A) | gnomAD v4 |
6 | g.129427862T>G | CA2680309328 | LAMA2 | c.5968+8T>G (n.5968+8T>G) c.6232+8T>G (n.6232+8T>G) c.6238+8T>G (n.6238+8T>G) c.4363+8T>G (n.4363+8T>G) | gnomAD v4 |
6 | g.129427863G>A | CA2680309329 | LAMA2 | c.5968+9G>A (n.5968+9G>A) c.6232+9G>A (n.6232+9G>A) c.6238+9G>A (n.6238+9G>A) c.4363+9G>A (n.4363+9G>A) | gnomAD v4 |
6 | g.129427863G= | CA1663161827 | LAMA2 | c.5968+9G= (n.5968+9G=) c.6232+9G= (n.6232+9G=) c.6238+9G= (n.6238+9G=) c.4363+9G= (n.4363+9G=) | |
6 | g.129427863G>T | CA146909136 | LAMA2 | c.5968+9G>T (n.5968+9G>T) c.6232+9G>T (n.6232+9G>T) c.6238+9G>T (n.6238+9G>T) c.4363+9G>T (n.4363+9G>T) | dbSNP |
6 | g.129427864G>A | CA2573140472 | LAMA2 | c.5968+10G>A (n.5968+10G>A) c.6232+10G>A (n.6232+10G>A) c.6238+10G>A (n.6238+10G>A) c.4363+10G>A (n.4363+10G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.129427865C>A | CA2680309331 | LAMA2 | c.5968+11C>A (n.5968+11C>A) c.6232+11C>A (n.6232+11C>A) c.6238+11C>A (n.6238+11C>A) c.4363+11C>A (n.4363+11C>A) | gnomAD v4 |
6 | g.129427865C= | CA1663161830 | LAMA2 | c.5968+11C= (n.5968+11C=) c.6232+11C= (n.6232+11C=) c.6238+11C= (n.6238+11C=) c.4363+11C= (n.4363+11C=) | |
6 | g.129427865C>T | CA3994043 | LAMA2 | c.5968+11C>T (n.5968+11C>T) c.6232+11C>T (n.6232+11C>T) c.6238+11C>T (n.6238+11C>T) c.4363+11C>T (n.4363+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427866del | CA2680309330 | LAMA2 | c.5968+12del (n.5968+12del) c.6232+12del (n.6232+12del) c.6238+12del (n.6238+12del) c.4363+12del (n.4363+12del) | gnomAD v4 |
6 | g.129427866C>A | CA2680309332 | LAMA2 | c.5968+12C>A (n.5968+12C>A) c.6232+12C>A (n.6232+12C>A) c.6238+12C>A (n.6238+12C>A) c.4363+12C>A (n.4363+12C>A) | gnomAD v4 |
6 | g.129427866C= | CA1663161832 | LAMA2 | c.5968+12C= (n.5968+12C=) c.6232+12C= (n.6232+12C=) c.6238+12C= (n.6238+12C=) c.4363+12C= (n.4363+12C=) | |
6 | g.129427866C>T | CA146909142 | LAMA2 | c.5968+12C>T (n.5968+12C>T) c.6232+12C>T (n.6232+12C>T) c.6238+12C>T (n.6238+12C>T) c.4363+12C>T (n.4363+12C>T) | dbSNP |
6 | g.129427867A= | CA1663161834 | LAMA2 | c.5968+13A= (n.5968+13A=) c.6232+13A= (n.6232+13A=) c.6238+13A= (n.6238+13A=) c.4363+13A= (n.4363+13A=) | |
6 | g.129427867A>C | CA818850042 | LAMA2 | c.5968+13A>C (n.5968+13A>C) c.6232+13A>C (n.6232+13A>C) c.6238+13A>C (n.6238+13A>C) c.4363+13A>C (n.4363+13A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427867A>G | CA3994044 | LAMA2 | c.5968+13A>G (n.5968+13A>G) c.6232+13A>G (n.6232+13A>G) c.6238+13A>G (n.6238+13A>G) c.4363+13A>G (n.4363+13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427868T>C | CA1663161840 | LAMA2 | c.5968+14T>C (n.5968+14T>C) c.6232+14T>C (n.6232+14T>C) c.6238+14T>C (n.6238+14T>C) c.4363+14T>C (n.4363+14T>C) | ClinVar dbSNP gnomAD v4 |
6 | g.129427868T= | CA1663161837 | LAMA2 | c.5968+14T= (n.5968+14T=) c.6232+14T= (n.6232+14T=) c.6238+14T= (n.6238+14T=) c.4363+14T= (n.4363+14T=) | |
6 | g.129427869A= | CA1663161846 | LAMA2 | c.5968+15A= (n.5968+15A=) c.6232+15A= (n.6232+15A=) c.6238+15A= (n.6238+15A=) c.4363+15A= (n.4363+15A=) | |
6 | g.129427869A>G | CA3994045 | LAMA2 | c.5968+15A>G (n.5968+15A>G) c.6232+15A>G (n.6232+15A>G) c.6238+15A>G (n.6238+15A>G) c.4363+15A>G (n.4363+15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427869A>T | CA146909149 | LAMA2 | c.5968+15A>T (n.5968+15A>T) c.6232+15A>T (n.6232+15A>T) c.6238+15A>T (n.6238+15A>T) c.4363+15A>T (n.4363+15A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427870G>A | CA2578737527 | LAMA2 | c.5968+16G>A (n.5968+16G>A) c.6232+16G>A (n.6232+16G>A) c.6238+16G>A (n.6238+16G>A) c.4363+16G>A (n.4363+16G>A) | ClinVar gnomAD v4 |
6 | g.129427870_129427871delinsGT | CA1663161849 | LAMA2 | c.5968+16_5968+17delinsGT (n.5968+16_5968+17delinsGT) c.6232+16_6232+17delinsGT (n.6232+16_6232+17delinsGT) c.6238+16_6238+17delinsGT (n.6238+16_6238+17delinsGT) c.4363+16_4363+17delinsGT (n.4363+16_4363+17delinsGT) | |
6 | g.129427871T>C | CA3994046 | LAMA2 | c.5968+17T>C (n.5968+17T>C) c.6232+17T>C (n.6232+17T>C) c.6238+17T>C (n.6238+17T>C) c.4363+17T>C (n.4363+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427871T>G | CA2773037378 | LAMA2 | c.5968+17T>G (n.5968+17T>G) c.6232+17T>G (n.6232+17T>G) c.6238+17T>G (n.6238+17T>G) c.4363+17T>G (n.4363+17T>G) | |
6 | g.129427871T= | CA1663161851 | LAMA2 | c.5968+17T= (n.5968+17T=) c.6232+17T= (n.6232+17T=) c.6238+17T= (n.6238+17T=) c.4363+17T= (n.4363+17T=) | |
6 | g.129427875del | CA1663161850 | LAMA2 | c.5968+21del (n.5968+21del) c.6232+21del (n.6232+21del) c.6238+21del (n.6238+21del) c.4363+21del (n.4363+21del) | dbSNP |
6 | g.129427872T>C | CA570058719 | LAMA2 | c.5968+18T>C (n.5968+18T>C) c.6232+18T>C (n.6232+18T>C) c.6238+18T>C (n.6238+18T>C) c.4363+18T>C (n.4363+18T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129427872T= | CA1663161853 | LAMA2 | c.5968+18T= (n.5968+18T=) c.6232+18T= (n.6232+18T=) c.6238+18T= (n.6238+18T=) c.4363+18T= (n.4363+18T=) | |
6 | g.129427873T>G | CA3994047 | LAMA2 | c.5968+19T>G (n.5968+19T>G) c.6232+19T>G (n.6232+19T>G) c.6238+19T>G (n.6238+19T>G) c.4363+19T>G (n.4363+19T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427873T= | CA1663161870 | LAMA2 | c.5968+19T= (n.5968+19T=) c.6232+19T= (n.6232+19T=) c.6238+19T= (n.6238+19T=) c.4363+19T= (n.4363+19T=) | |
6 | g.129427875T>A | CA818850052 | LAMA2 | c.5968+21T>A (n.5968+21T>A) c.6232+21T>A (n.6232+21T>A) c.6238+21T>A (n.6238+21T>A) c.4363+21T>A (n.4363+21T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427875T= | CA1663161879 | LAMA2 | c.5968+21T= (n.5968+21T=) c.6232+21T= (n.6232+21T=) c.6238+21T= (n.6238+21T=) c.4363+21T= (n.4363+21T=) | |
6 | g.129427876A>C | CA2773037379 | LAMA2 | c.5968+22A>C (n.5968+22A>C) c.6232+22A>C (n.6232+22A>C) c.6238+22A>C (n.6238+22A>C) c.4363+22A>C (n.4363+22A>C) | |
6 | g.129427878T>C | CA3994048 | LAMA2 | c.5968+24T>C (n.5968+24T>C) c.6232+24T>C (n.6232+24T>C) c.6238+24T>C (n.6238+24T>C) c.4363+24T>C (n.4363+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427878T= | CA1663161886 | LAMA2 | c.5968+24T= (n.5968+24T=) c.6232+24T= (n.6232+24T=) c.6238+24T= (n.6238+24T=) c.4363+24T= (n.4363+24T=) | |
6 | g.129427879A>G | CA2680309333 | LAMA2 | c.5968+25A>G (n.5968+25A>G) c.6232+25A>G (n.6232+25A>G) c.6238+25A>G (n.6238+25A>G) c.4363+25A>G (n.4363+25A>G) | gnomAD v4 |
6 | g.129427882T>A | CA3994049 | LAMA2 | c.5968+28T>A (n.5968+28T>A) c.6232+28T>A (n.6232+28T>A) c.6238+28T>A (n.6238+28T>A) c.4363+28T>A (n.4363+28T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427882T= | CA1663161892 | LAMA2 | c.5968+28T= (n.5968+28T=) c.6232+28T= (n.6232+28T=) c.6238+28T= (n.6238+28T=) c.4363+28T= (n.4363+28T=) | |
6 | g.129427883T>C | CA3994050 | LAMA2 | c.5968+29T>C (n.5968+29T>C) c.6232+29T>C (n.6232+29T>C) c.6238+29T>C (n.6238+29T>C) c.4363+29T>C (n.4363+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427883T= | CA1663161896 | LAMA2 | c.5968+29T= (n.5968+29T=) c.6232+29T= (n.6232+29T=) c.6238+29T= (n.6238+29T=) c.4363+29T= (n.4363+29T=) | |
6 | g.129427884C>A | CA2578737528 | LAMA2 | c.5968+30C>A (n.5968+30C>A) c.6232+30C>A (n.6232+30C>A) c.6238+30C>A (n.6238+30C>A) c.4363+30C>A (n.4363+30C>A) | gnomAD v4 |
6 | g.129427884C= | CA1663161901 | LAMA2 | c.5968+30C= (n.5968+30C=) c.6232+30C= (n.6232+30C=) c.6238+30C= (n.6238+30C=) c.4363+30C= (n.4363+30C=) | |
6 | g.129427884C>T | CA570058724 | LAMA2 | c.5968+30C>T (n.5968+30C>T) c.6232+30C>T (n.6232+30C>T) c.6238+30C>T (n.6238+30C>T) c.4363+30C>T (n.4363+30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427885dup | CA146909199 | LAMA2 | c.5968+31dup (n.5968+31dup) c.6232+31dup (n.6232+31dup) c.6238+31dup (n.6238+31dup) c.4363+31dup (n.4363+31dup) | dbSNP |
6 | g.129427885C>A | CA2680309334 | LAMA2 | c.5968+31C>A (n.5968+31C>A) c.6232+31C>A (n.6232+31C>A) c.6238+31C>A (n.6238+31C>A) c.4363+31C>A (n.4363+31C>A) | gnomAD v4 |
6 | g.129427885C>T | CA2680309335 | LAMA2 | c.5968+31C>T (n.5968+31C>T) c.6232+31C>T (n.6232+31C>T) c.6238+31C>T (n.6238+31C>T) c.4363+31C>T (n.4363+31C>T) | gnomAD v4 |
6 | g.129427886A= | CA1663161903 | LAMA2 | c.5968+32A= (n.5968+32A=) c.6232+32A= (n.6232+32A=) c.6238+32A= (n.6238+32A=) c.4363+32A= (n.4363+32A=) | |
6 | g.129427886A>G | CA146909205 | LAMA2 | c.5968+32A>G (n.5968+32A>G) c.6232+32A>G (n.6232+32A>G) c.6238+32A>G (n.6238+32A>G) c.4363+32A>G (n.4363+32A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129427887G>C | CA2578737529 | LAMA2 | c.5968+33G>C (n.5968+33G>C) c.6232+33G>C (n.6232+33G>C) c.6238+33G>C (n.6238+33G>C) c.4363+33G>C (n.4363+33G>C) | |
6 | g.129427888T>C | CA3994051 | LAMA2 | c.5968+34T>C (n.5968+34T>C) c.6232+34T>C (n.6232+34T>C) c.6238+34T>C (n.6238+34T>C) c.4363+34T>C (n.4363+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427888T= | CA1663161907 | LAMA2 | c.5968+34T= (n.5968+34T=) c.6232+34T= (n.6232+34T=) c.6238+34T= (n.6238+34T=) c.4363+34T= (n.4363+34T=) | |
6 | g.129427889T>A | CA2578737530 | LAMA2 | c.5968+35T>A (n.5968+35T>A) c.6232+35T>A (n.6232+35T>A) c.6238+35T>A (n.6238+35T>A) c.4363+35T>A (n.4363+35T>A) | |
6 | g.129427889T>C | CA2680309336 | LAMA2 | c.5968+35T>C (n.5968+35T>C) c.6232+35T>C (n.6232+35T>C) c.6238+35T>C (n.6238+35T>C) c.4363+35T>C (n.4363+35T>C) | gnomAD v4 |
6 | g.129427889T= | CA1663161910 | LAMA2 | c.5968+35T= (n.5968+35T=) c.6232+35T= (n.6232+35T=) c.6238+35T= (n.6238+35T=) c.4363+35T= (n.4363+35T=) | |
6 | g.129427890A= | CA1663161913 | LAMA2 | c.5968+36A= (n.5968+36A=) c.6232+36A= (n.6232+36A=) c.6238+36A= (n.6238+36A=) c.4363+36A= (n.4363+36A=) | |
6 | g.129427890A>C | CA1663161914 | LAMA2 | c.5968+36A>C (n.5968+36A>C) c.6232+36A>C (n.6232+36A>C) c.6238+36A>C (n.6238+36A>C) c.4363+36A>C (n.4363+36A>C) | dbSNP gnomAD v4 |
6 | g.129427891dup | CA3994052 | LAMA2 | c.5968+37dup (n.5968+37dup) c.6232+37dup (n.6232+37dup) c.6238+37dup (n.6238+37dup) c.4363+37dup (n.4363+37dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427891A>T | CA2680309337 | LAMA2 | c.5968+37A>T (n.5968+37A>T) c.6232+37A>T (n.6232+37A>T) c.6238+37A>T (n.6238+37A>T) c.4363+37A>T (n.4363+37A>T) | gnomAD v4 |
6 | g.129427892T>A | CA1094394986 | LAMA2 | c.5968+38T>A (n.5968+38T>A) c.6232+38T>A (n.6232+38T>A) c.6238+38T>A (n.6238+38T>A) c.4363+38T>A (n.4363+38T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427892T= | CA1663161917 | LAMA2 | c.5968+38T= (n.5968+38T=) c.6232+38T= (n.6232+38T=) c.6238+38T= (n.6238+38T=) c.4363+38T= (n.4363+38T=) | |
6 | g.129427893C>A | CA2578737531 | LAMA2 | c.5968+39C>A (n.5968+39C>A) c.6232+39C>A (n.6232+39C>A) c.6238+39C>A (n.6238+39C>A) c.4363+39C>A (n.4363+39C>A) | gnomAD v4 |
6 | g.129427893C= | CA1663161920 | LAMA2 | c.5968+39C= (n.5968+39C=) c.6232+39C= (n.6232+39C=) c.6238+39C= (n.6238+39C=) c.4363+39C= (n.4363+39C=) | |
6 | g.129427893C>T | CA146909225 | LAMA2 | c.5968+39C>T (n.5968+39C>T) c.6232+39C>T (n.6232+39C>T) c.6238+39C>T (n.6238+39C>T) c.4363+39C>T (n.4363+39C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427894G>A | CA3994053 | LAMA2 | c.5968+40G>A (n.5968+40G>A) c.6232+40G>A (n.6232+40G>A) c.6238+40G>A (n.6238+40G>A) c.4363+40G>A (n.4363+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427894G= | CA1663161926 | LAMA2 | c.5968+40G= (n.5968+40G=) c.6232+40G= (n.6232+40G=) c.6238+40G= (n.6238+40G=) c.4363+40G= (n.4363+40G=) | |
6 | g.129427894G>T | CA570058726 | LAMA2 | c.5968+40G>T (n.5968+40G>T) c.6232+40G>T (n.6232+40G>T) c.6238+40G>T (n.6238+40G>T) c.4363+40G>T (n.4363+40G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427895G>A | CA146909239 | LAMA2 | c.5968+41G>A (n.5968+41G>A) c.6232+41G>A (n.6232+41G>A) c.6238+41G>A (n.6238+41G>A) c.4363+41G>A (n.4363+41G>A) | dbSNP |
6 | g.129427895G= | CA1663161949 | LAMA2 | c.5968+41G= (n.5968+41G=) c.6232+41G= (n.6232+41G=) c.6238+41G= (n.6238+41G=) c.4363+41G= (n.4363+41G=) | |
6 | g.129427895G>T | CA2680309338 | LAMA2 | c.5968+41G>T (n.5968+41G>T) c.6232+41G>T (n.6232+41G>T) c.6238+41G>T (n.6238+41G>T) c.4363+41G>T (n.4363+41G>T) | gnomAD v4 |
6 | g.129427896G= | CA1663161955 | LAMA2 | c.5968+42G= (n.5968+42G=) c.6232+42G= (n.6232+42G=) c.6238+42G= (n.6238+42G=) c.4363+42G= (n.4363+42G=) | |
6 | g.129427896G>T | CA3994054 | LAMA2 | c.5968+42G>T (n.5968+42G>T) c.6232+42G>T (n.6232+42G>T) c.6238+42G>T (n.6238+42G>T) c.4363+42G>T (n.4363+42G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129427898T>A | CA2578737532 | LAMA2 | c.5968+44T>A (n.5968+44T>A) c.6232+44T>A (n.6232+44T>A) c.6238+44T>A (n.6238+44T>A) c.4363+44T>A (n.4363+44T>A) | |
6 | g.129427899G>T | CA2680309339 | LAMA2 | c.5968+45G>T (n.5968+45G>T) c.6232+45G>T (n.6232+45G>T) c.6238+45G>T (n.6238+45G>T) c.4363+45G>T (n.4363+45G>T) | gnomAD v4 |
6 | g.129427900T>C | CA570058727 | LAMA2 | c.5968+46T>C (n.5968+46T>C) c.6232+46T>C (n.6232+46T>C) c.6238+46T>C (n.6238+46T>C) c.4363+46T>C (n.4363+46T>C) | dbSNP gnomAD v2 |
6 | g.129427900T= | CA1663161958 | LAMA2 | c.5968+46T= (n.5968+46T=) c.6232+46T= (n.6232+46T=) c.6238+46T= (n.6238+46T=) c.4363+46T= (n.4363+46T=) | |
6 | g.129427902A= | CA1663161966 | LAMA2 | c.5968+48A= (n.5968+48A=) c.6232+48A= (n.6232+48A=) c.6238+48A= (n.6238+48A=) c.4363+48A= (n.4363+48A=) | |
6 | g.129427902A>G | CA3994055 | LAMA2 | c.5968+48A>G (n.5968+48A>G) c.6232+48A>G (n.6232+48A>G) c.6238+48A>G (n.6238+48A>G) c.4363+48A>G (n.4363+48A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129427903C>T | CA2680309340 | LAMA2 | c.5968+49C>T (n.5968+49C>T) c.6232+49C>T (n.6232+49C>T) c.6238+49C>T (n.6238+49C>T) c.4363+49C>T (n.4363+49C>T) | gnomAD v4 |
6 | g.129427904T>C | CA2680309341 | LAMA2 | c.5968+50T>C (n.5968+50T>C) c.6232+50T>C (n.6232+50T>C) c.6238+50T>C (n.6238+50T>C) c.4363+50T>C (n.4363+50T>C) | gnomAD v4 |
6 | g.129427905G>T | CA2680309342 | LAMA2 | c.5968+51G>T (n.5968+51G>T) c.6232+51G>T (n.6232+51G>T) c.6238+51G>T (n.6238+51G>T) c.4363+51G>T (n.4363+51G>T) | gnomAD v4 |
6 | g.129427906A= | CA1663161973 | LAMA2 | c.5968+52A= (n.5968+52A=) c.6232+52A= (n.6232+52A=) c.6238+52A= (n.6238+52A=) c.4363+52A= (n.4363+52A=) | |
6 | g.129427906A>G | CA570058728 | LAMA2 | c.5968+52A>G (n.5968+52A>G) c.6232+52A>G (n.6232+52A>G) c.6238+52A>G (n.6238+52A>G) c.4363+52A>G (n.4363+52A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129427906A>T | CA818850080 | LAMA2 | c.5968+52A>T (n.5968+52A>T) c.6232+52A>T (n.6232+52A>T) c.6238+52A>T (n.6238+52A>T) c.4363+52A>T (n.4363+52A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129427907T>A | CA1663161977 | LAMA2 | c.5968+53T>A (n.5968+53T>A) c.6232+53T>A (n.6232+53T>A) c.6238+53T>A (n.6238+53T>A) c.4363+53T>A (n.4363+53T>A) | dbSNP gnomAD v4 |
6 | g.129427907T= | CA1663161975 | LAMA2 | c.5968+53T= (n.5968+53T=) c.6232+53T= (n.6232+53T=) c.6238+53T= (n.6238+53T=) c.4363+53T= (n.4363+53T=) | |
6 | g.129427908A>G | CA2680309343 | LAMA2 | c.5968+54A>G (n.5968+54A>G) c.6232+54A>G (n.6232+54A>G) c.6238+54A>G (n.6238+54A>G) c.4363+54A>G (n.4363+54A>G) | gnomAD v4 |
6 | g.129427909A>G | CA2680309344 | LAMA2 | c.5968+55A>G (n.5968+55A>G) c.6232+55A>G (n.6232+55A>G) c.6238+55A>G (n.6238+55A>G) c.4363+55A>G (n.4363+55A>G) | gnomAD v4 |
6 | g.129427910G>A | CA2680309345 | LAMA2 | c.5968+56G>A (n.5968+56G>A) c.6232+56G>A (n.6232+56G>A) c.6238+56G>A (n.6238+56G>A) c.4363+56G>A (n.4363+56G>A) | gnomAD v4 |
6 | g.129427910G>T | CA2680309346 | LAMA2 | c.5968+56G>T (n.5968+56G>T) c.6232+56G>T (n.6232+56G>T) c.6238+56G>T (n.6238+56G>T) c.4363+56G>T (n.4363+56G>T) | gnomAD v4 |