Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23928685C>ACA402063972LAMA3c.3529C>A (p.Pro1177Thr)
c.8356C>A (p.Pro2786Thr)
c.4951C>A (p.Pro1651Thr)
c.8188C>A (p.Pro2730Thr)
c.3134C>A
c.3361C>A (p.Pro1121Thr)
c.61C>A (p.Pro21Thr)
n.2934C>A
c.8383C>A (p.Pro2795Thr)
c.8374C>A (p.Pro2792Thr)
c.8365C>A (p.Pro2789Thr)
c.8251C>A (p.Pro2751Thr)
c.8086C>A (p.Pro2696Thr)
c.6235C>A (p.Pro2079Thr)
c.3925C>A (p.Pro1309Thr)
n.8624C>A
18g.23928685C>GCA402063973LAMA3c.3529C>G (p.Pro1177Ala)
c.8356C>G (p.Pro2786Ala)
c.4951C>G (p.Pro1651Ala)
c.8188C>G (p.Pro2730Ala)
c.3134C>G
c.3361C>G (p.Pro1121Ala)
c.61C>G (p.Pro21Ala)
n.2934C>G
c.8383C>G (p.Pro2795Ala)
c.8374C>G (p.Pro2792Ala)
c.8365C>G (p.Pro2789Ala)
c.8251C>G (p.Pro2751Ala)
c.8086C>G (p.Pro2696Ala)
c.6235C>G (p.Pro2079Ala)
c.3925C>G (p.Pro1309Ala)
n.8624C>G
18g.23928685C>TCA402063976LAMA3c.3529C>T (p.Pro1177Ser)
c.8356C>T (p.Pro2786Ser)
c.4951C>T (p.Pro1651Ser)
c.8188C>T (p.Pro2730Ser)
c.3134C>T
c.3361C>T (p.Pro1121Ser)
c.61C>T (p.Pro21Ser)
n.2934C>T
c.8383C>T (p.Pro2795Ser)
c.8374C>T (p.Pro2792Ser)
c.8365C>T (p.Pro2789Ser)
c.8251C>T (p.Pro2751Ser)
c.8086C>T (p.Pro2696Ser)
c.6235C>T (p.Pro2079Ser)
c.3925C>T (p.Pro1309Ser)
n.8624C>T
18g.23928686C>ACA402063978LAMA3c.3530C>A (p.Pro1177Gln)
c.8357C>A (p.Pro2786Gln)
c.4952C>A (p.Pro1651Gln)
c.8189C>A (p.Pro2730Gln)
c.3135C>A
c.3362C>A (p.Pro1121Gln)
c.62C>A (p.Pro21Gln)
n.2935C>A
c.8384C>A (p.Pro2795Gln)
c.8375C>A (p.Pro2792Gln)
c.8366C>A (p.Pro2789Gln)
c.8252C>A (p.Pro2751Gln)
c.8087C>A (p.Pro2696Gln)
c.6236C>A (p.Pro2079Gln)
c.3926C>A (p.Pro1309Gln)
n.8625C>A
18g.23928686C>GCA402063980LAMA3c.3530C>G (p.Pro1177Arg)
c.8357C>G (p.Pro2786Arg)
c.4952C>G (p.Pro1651Arg)
c.8189C>G (p.Pro2730Arg)
c.3135C>G
c.3362C>G (p.Pro1121Arg)
c.62C>G (p.Pro21Arg)
n.2935C>G
c.8384C>G (p.Pro2795Arg)
c.8375C>G (p.Pro2792Arg)
c.8366C>G (p.Pro2789Arg)
c.8252C>G (p.Pro2751Arg)
c.8087C>G (p.Pro2696Arg)
c.6236C>G (p.Pro2079Arg)
c.3926C>G (p.Pro1309Arg)
n.8625C>G
18g.23928686C>TCA402063982LAMA3c.3530C>T (p.Pro1177Leu)
c.8357C>T (p.Pro2786Leu)
c.4952C>T (p.Pro1651Leu)
c.8189C>T (p.Pro2730Leu)
c.3135C>T
c.3362C>T (p.Pro1121Leu)
c.62C>T (p.Pro21Leu)
n.2935C>T
c.8384C>T (p.Pro2795Leu)
c.8375C>T (p.Pro2792Leu)
c.8366C>T (p.Pro2789Leu)
c.8252C>T (p.Pro2751Leu)
c.8087C>T (p.Pro2696Leu)
c.6236C>T (p.Pro2079Leu)
c.3926C>T (p.Pro1309Leu)
n.8625C>T
18g.23928687A=CA2290334836LAMA3c.3531A= (p.Pro1177=)
c.8358A= (p.Pro2786=)
c.4953A= (p.Pro1651=)
c.8190A= (p.Pro2730=)
c.3136A=
c.3363A= (p.Pro1121=)
c.63A= (p.Pro21=)
n.2936A=
c.8385A= (p.Pro2795=)
c.8376A= (p.Pro2792=)
c.8367A= (p.Pro2789=)
c.8253A= (p.Pro2751=)
c.8088A= (p.Pro2696=)
c.6237A= (p.Pro2079=)
c.3927A= (p.Pro1309=)
n.8626A=
18g.23928687A>CCA503340788LAMA3c.3531A>C (p.Pro1177=)
c.8358A>C (p.Pro2786=)
c.4953A>C (p.Pro1651=)
c.8190A>C (p.Pro2730=)
c.3136A>C
c.3363A>C (p.Pro1121=)
c.63A>C (p.Pro21=)
n.2936A>C
c.8385A>C (p.Pro2795=)
c.8376A>C (p.Pro2792=)
c.8367A>C (p.Pro2789=)
c.8253A>C (p.Pro2751=)
c.8088A>C (p.Pro2696=)
c.6237A>C (p.Pro2079=)
c.3927A>C (p.Pro1309=)
n.8626A>C
 dbSNP gnomAD v4
18g.23928687A>GCA503340789LAMA3c.3531A>G (p.Pro1177=)
c.8358A>G (p.Pro2786=)
c.4953A>G (p.Pro1651=)
c.8190A>G (p.Pro2730=)
c.3136A>G
c.3363A>G (p.Pro1121=)
c.63A>G (p.Pro21=)
n.2936A>G
c.8385A>G (p.Pro2795=)
c.8376A>G (p.Pro2792=)
c.8367A>G (p.Pro2789=)
c.8253A>G (p.Pro2751=)
c.8088A>G (p.Pro2696=)
c.6237A>G (p.Pro2079=)
c.3927A>G (p.Pro1309=)
n.8626A>G
18g.23928687A>TCA503340790LAMA3c.3531A>T (p.Pro1177=)
c.8358A>T (p.Pro2786=)
c.4953A>T (p.Pro1651=)
c.8190A>T (p.Pro2730=)
c.3136A>T
c.3363A>T (p.Pro1121=)
c.63A>T (p.Pro21=)
n.2936A>T
c.8385A>T (p.Pro2795=)
c.8376A>T (p.Pro2792=)
c.8367A>T (p.Pro2789=)
c.8253A>T (p.Pro2751=)
c.8088A>T (p.Pro2696=)
c.6237A>T (p.Pro2079=)
c.3927A>T (p.Pro1309=)
n.8626A>T
18g.23928688C>ACA402063983LAMA3c.3532C>A (p.Pro1178Thr)
c.8359C>A (p.Pro2787Thr)
c.4954C>A (p.Pro1652Thr)
c.8191C>A (p.Pro2731Thr)
c.3137C>A
c.3364C>A (p.Pro1122Thr)
c.64C>A (p.Pro22Thr)
n.2937C>A
c.8386C>A (p.Pro2796Thr)
c.8377C>A (p.Pro2793Thr)
c.8368C>A (p.Pro2790Thr)
c.8254C>A (p.Pro2752Thr)
c.8089C>A (p.Pro2697Thr)
c.6238C>A (p.Pro2080Thr)
c.3928C>A (p.Pro1310Thr)
n.8627C>A
18g.23928688C>GCA402063987LAMA3c.3532C>G (p.Pro1178Ala)
c.8359C>G (p.Pro2787Ala)
c.4954C>G (p.Pro1652Ala)
c.8191C>G (p.Pro2731Ala)
c.3137C>G
c.3364C>G (p.Pro1122Ala)
c.64C>G (p.Pro22Ala)
n.2937C>G
c.8386C>G (p.Pro2796Ala)
c.8377C>G (p.Pro2793Ala)
c.8368C>G (p.Pro2790Ala)
c.8254C>G (p.Pro2752Ala)
c.8089C>G (p.Pro2697Ala)
c.6238C>G (p.Pro2080Ala)
c.3928C>G (p.Pro1310Ala)
n.8627C>G
 gnomAD v4
18g.23928688C>TCA402063985LAMA3c.3532C>T (p.Pro1178Ser)
c.8359C>T (p.Pro2787Ser)
c.4954C>T (p.Pro1652Ser)
c.8191C>T (p.Pro2731Ser)
c.3137C>T
c.3364C>T (p.Pro1122Ser)
c.64C>T (p.Pro22Ser)
n.2937C>T
c.8386C>T (p.Pro2796Ser)
c.8377C>T (p.Pro2793Ser)
c.8368C>T (p.Pro2790Ser)
c.8254C>T (p.Pro2752Ser)
c.8089C>T (p.Pro2697Ser)
c.6238C>T (p.Pro2080Ser)
c.3928C>T (p.Pro1310Ser)
n.8627C>T
 gnomAD v4
18g.23928689C>ACA402063989LAMA3c.3533C>A (p.Pro1178His)
c.8360C>A (p.Pro2787His)
c.4955C>A (p.Pro1652His)
c.8192C>A (p.Pro2731His)
c.3138C>A
c.3365C>A (p.Pro1122His)
c.65C>A (p.Pro22His)
n.2938C>A
c.8387C>A (p.Pro2796His)
c.8378C>A (p.Pro2793His)
c.8369C>A (p.Pro2790His)
c.8255C>A (p.Pro2752His)
c.8090C>A (p.Pro2697His)
c.6239C>A (p.Pro2080His)
c.3929C>A (p.Pro1310His)
n.8628C>A
18g.23928689C>GCA402063991LAMA3c.3533C>G (p.Pro1178Arg)
c.8360C>G (p.Pro2787Arg)
c.4955C>G (p.Pro1652Arg)
c.8192C>G (p.Pro2731Arg)
c.3138C>G
c.3365C>G (p.Pro1122Arg)
c.65C>G (p.Pro22Arg)
n.2938C>G
c.8387C>G (p.Pro2796Arg)
c.8378C>G (p.Pro2793Arg)
c.8369C>G (p.Pro2790Arg)
c.8255C>G (p.Pro2752Arg)
c.8090C>G (p.Pro2697Arg)
c.6239C>G (p.Pro2080Arg)
c.3929C>G (p.Pro1310Arg)
n.8628C>G
18g.23928689C>TCA402063993LAMA3c.3533C>T (p.Pro1178Leu)
c.8360C>T (p.Pro2787Leu)
c.4955C>T (p.Pro1652Leu)
c.8192C>T (p.Pro2731Leu)
c.3138C>T
c.3365C>T (p.Pro1122Leu)
c.65C>T (p.Pro22Leu)
n.2938C>T
c.8387C>T (p.Pro2796Leu)
c.8378C>T (p.Pro2793Leu)
c.8369C>T (p.Pro2790Leu)
c.8255C>T (p.Pro2752Leu)
c.8090C>T (p.Pro2697Leu)
c.6239C>T (p.Pro2080Leu)
c.3929C>T (p.Pro1310Leu)
n.8628C>T
18g.23928690T>ACA503340793LAMA3c.3534T>A (p.Pro1178=)
c.8361T>A (p.Pro2787=)
c.4956T>A (p.Pro1652=)
c.8193T>A (p.Pro2731=)
c.3139T>A
c.3366T>A (p.Pro1122=)
c.66T>A (p.Pro22=)
n.2939T>A
c.8388T>A (p.Pro2796=)
c.8379T>A (p.Pro2793=)
c.8370T>A (p.Pro2790=)
c.8256T>A (p.Pro2752=)
c.8091T>A (p.Pro2697=)
c.6240T>A (p.Pro2080=)
c.3930T>A (p.Pro1310=)
n.8629T>A
18g.23928690T>CCA503340792LAMA3c.3534T>C (p.Pro1178=)
c.8361T>C (p.Pro2787=)
c.4956T>C (p.Pro1652=)
c.8193T>C (p.Pro2731=)
c.3139T>C
c.3366T>C (p.Pro1122=)
c.66T>C (p.Pro22=)
n.2939T>C
c.8388T>C (p.Pro2796=)
c.8379T>C (p.Pro2793=)
c.8370T>C (p.Pro2790=)
c.8256T>C (p.Pro2752=)
c.8091T>C (p.Pro2697=)
c.6240T>C (p.Pro2080=)
c.3930T>C (p.Pro1310=)
n.8629T>C
 dbSNP gnomAD v4
18g.23928690T>GCA503340791LAMA3c.3534T>G (p.Pro1178=)
c.8361T>G (p.Pro2787=)
c.4956T>G (p.Pro1652=)
c.8193T>G (p.Pro2731=)
c.3139T>G
c.3366T>G (p.Pro1122=)
c.66T>G (p.Pro22=)
n.2939T>G
c.8388T>G (p.Pro2796=)
c.8379T>G (p.Pro2793=)
c.8370T>G (p.Pro2790=)
c.8256T>G (p.Pro2752=)
c.8091T>G (p.Pro2697=)
c.6240T>G (p.Pro2080=)
c.3930T>G (p.Pro1310=)
n.8629T>G
18g.23928690T=CA2290334837LAMA3c.3534T= (p.Pro1178=)
c.8361T= (p.Pro2787=)
c.4956T= (p.Pro1652=)
c.8193T= (p.Pro2731=)
c.3139T=
c.3366T= (p.Pro1122=)
c.66T= (p.Pro22=)
n.2939T=
c.8388T= (p.Pro2796=)
c.8379T= (p.Pro2793=)
c.8370T= (p.Pro2790=)
c.8256T= (p.Pro2752=)
c.8091T= (p.Pro2697=)
c.6240T= (p.Pro2080=)
c.3930T= (p.Pro1310=)
n.8629T=
18g.23928691A>CCA402063995LAMA3c.3535A>C (p.Thr1179Pro)
c.8362A>C (p.Thr2788Pro)
c.4957A>C (p.Thr1653Pro)
c.8194A>C (p.Thr2732Pro)
c.3140A>C
c.3367A>C (p.Thr1123Pro)
c.67A>C (p.Thr23Pro)
n.2940A>C
c.8389A>C (p.Thr2797Pro)
c.8380A>C (p.Thr2794Pro)
c.8371A>C (p.Thr2791Pro)
c.8257A>C (p.Thr2753Pro)
c.8092A>C (p.Thr2698Pro)
c.6241A>C (p.Thr2081Pro)
c.3931A>C (p.Thr1311Pro)
n.8630A>C
18g.23928691A>GCA402063996LAMA3c.3535A>G (p.Thr1179Ala)
c.8362A>G (p.Thr2788Ala)
c.4957A>G (p.Thr1653Ala)
c.8194A>G (p.Thr2732Ala)
c.3140A>G
c.3367A>G (p.Thr1123Ala)
c.67A>G (p.Thr23Ala)
n.2940A>G
c.8389A>G (p.Thr2797Ala)
c.8380A>G (p.Thr2794Ala)
c.8371A>G (p.Thr2791Ala)
c.8257A>G (p.Thr2753Ala)
c.8092A>G (p.Thr2698Ala)
c.6241A>G (p.Thr2081Ala)
c.3931A>G (p.Thr1311Ala)
n.8630A>G
18g.23928691A>TCA402063998LAMA3c.3535A>T (p.Thr1179Ser)
c.8362A>T (p.Thr2788Ser)
c.4957A>T (p.Thr1653Ser)
c.8194A>T (p.Thr2732Ser)
c.3140A>T
c.3367A>T (p.Thr1123Ser)
c.67A>T (p.Thr23Ser)
n.2940A>T
c.8389A>T (p.Thr2797Ser)
c.8380A>T (p.Thr2794Ser)
c.8371A>T (p.Thr2791Ser)
c.8257A>T (p.Thr2753Ser)
c.8092A>T (p.Thr2698Ser)
c.6241A>T (p.Thr2081Ser)
c.3931A>T (p.Thr1311Ser)
n.8630A>T
18g.23928692C>ACA402064001LAMA3c.3536C>A (p.Thr1179Asn)
c.8363C>A (p.Thr2788Asn)
c.4958C>A (p.Thr1653Asn)
c.8195C>A (p.Thr2732Asn)
c.3141C>A
c.3368C>A (p.Thr1123Asn)
c.68C>A (p.Thr23Asn)
n.2941C>A
c.8390C>A (p.Thr2797Asn)
c.8381C>A (p.Thr2794Asn)
c.8372C>A (p.Thr2791Asn)
c.8258C>A (p.Thr2753Asn)
c.8093C>A (p.Thr2698Asn)
c.6242C>A (p.Thr2081Asn)
c.3932C>A (p.Thr1311Asn)
n.8631C>A
18g.23928692C>GCA402064002LAMA3c.3536C>G (p.Thr1179Ser)
c.8363C>G (p.Thr2788Ser)
c.4958C>G (p.Thr1653Ser)
c.8195C>G (p.Thr2732Ser)
c.3141C>G
c.3368C>G (p.Thr1123Ser)
c.68C>G (p.Thr23Ser)
n.2941C>G
c.8390C>G (p.Thr2797Ser)
c.8381C>G (p.Thr2794Ser)
c.8372C>G (p.Thr2791Ser)
c.8258C>G (p.Thr2753Ser)
c.8093C>G (p.Thr2698Ser)
c.6242C>G (p.Thr2081Ser)
c.3932C>G (p.Thr1311Ser)
n.8631C>G
18g.23928692C>TCA402064005LAMA3c.3536C>T (p.Thr1179Ile)
c.8363C>T (p.Thr2788Ile)
c.4958C>T (p.Thr1653Ile)
c.8195C>T (p.Thr2732Ile)
c.3141C>T
c.3368C>T (p.Thr1123Ile)
c.68C>T (p.Thr23Ile)
n.2941C>T
c.8390C>T (p.Thr2797Ile)
c.8381C>T (p.Thr2794Ile)
c.8372C>T (p.Thr2791Ile)
c.8258C>T (p.Thr2753Ile)
c.8093C>T (p.Thr2698Ile)
c.6242C>T (p.Thr2081Ile)
c.3932C>T (p.Thr1311Ile)
n.8631C>T
 gnomAD v4
18g.23928693T>ACA503340794LAMA3c.3537T>A (p.Thr1179=)
c.8364T>A (p.Thr2788=)
c.4959T>A (p.Thr1653=)
c.8196T>A (p.Thr2732=)
c.3142T>A
c.3369T>A (p.Thr1123=)
c.69T>A (p.Thr23=)
n.2942T>A
c.8391T>A (p.Thr2797=)
c.8382T>A (p.Thr2794=)
c.8373T>A (p.Thr2791=)
c.8259T>A (p.Thr2753=)
c.8094T>A (p.Thr2698=)
c.6243T>A (p.Thr2081=)
c.3933T>A (p.Thr1311=)
n.8632T>A
18g.23928693T>CCA503340795LAMA3c.3537T>C (p.Thr1179=)
c.8364T>C (p.Thr2788=)
c.4959T>C (p.Thr1653=)
c.8196T>C (p.Thr2732=)
c.3142T>C
c.3369T>C (p.Thr1123=)
c.69T>C (p.Thr23=)
n.2942T>C
c.8391T>C (p.Thr2797=)
c.8382T>C (p.Thr2794=)
c.8373T>C (p.Thr2791=)
c.8259T>C (p.Thr2753=)
c.8094T>C (p.Thr2698=)
c.6243T>C (p.Thr2081=)
c.3933T>C (p.Thr1311=)
n.8632T>C
 dbSNP
18g.23928693T>GCA503340796LAMA3c.3537T>G (p.Thr1179=)
c.8364T>G (p.Thr2788=)
c.4959T>G (p.Thr1653=)
c.8196T>G (p.Thr2732=)
c.3142T>G
c.3369T>G (p.Thr1123=)
c.69T>G (p.Thr23=)
n.2942T>G
c.8391T>G (p.Thr2797=)
c.8382T>G (p.Thr2794=)
c.8373T>G (p.Thr2791=)
c.8259T>G (p.Thr2753=)
c.8094T>G (p.Thr2698=)
c.6243T>G (p.Thr2081=)
c.3933T>G (p.Thr1311=)
n.8632T>G
 ClinVar
18g.23928693T=CA2290334838LAMA3c.3537T= (p.Thr1179=)
c.8364T= (p.Thr2788=)
c.4959T= (p.Thr1653=)
c.8196T= (p.Thr2732=)
c.3142T=
c.3369T= (p.Thr1123=)
c.69T= (p.Thr23=)
n.2942T=
c.8391T= (p.Thr2797=)
c.8382T= (p.Thr2794=)
c.8373T= (p.Thr2791=)
c.8259T= (p.Thr2753=)
c.8094T= (p.Thr2698=)
c.6243T= (p.Thr2081=)
c.3933T= (p.Thr1311=)
n.8632T=
18g.23928694G>ACA402064006LAMA3c.3538G>A (p.Asp1180Asn)
c.8365G>A (p.Asp2789Asn)
c.4960G>A (p.Asp1654Asn)
c.8197G>A (p.Asp2733Asn)
c.3143G>A
c.3370G>A (p.Asp1124Asn)
c.70G>A (p.Asp24Asn)
n.2943G>A
c.8392G>A (p.Asp2798Asn)
c.8383G>A (p.Asp2795Asn)
c.8374G>A (p.Asp2792Asn)
c.8260G>A (p.Asp2754Asn)
c.8095G>A (p.Asp2699Asn)
c.6244G>A (p.Asp2082Asn)
c.3934G>A (p.Asp1312Asn)
n.8633G>A
18g.23928694G>CCA402064007LAMA3c.3538G>C (p.Asp1180His)
c.8365G>C (p.Asp2789His)
c.4960G>C (p.Asp1654His)
c.8197G>C (p.Asp2733His)
c.3143G>C
c.3370G>C (p.Asp1124His)
c.70G>C (p.Asp24His)
n.2943G>C
c.8392G>C (p.Asp2798His)
c.8383G>C (p.Asp2795His)
c.8374G>C (p.Asp2792His)
c.8260G>C (p.Asp2754His)
c.8095G>C (p.Asp2699His)
c.6244G>C (p.Asp2082His)
c.3934G>C (p.Asp1312His)
n.8633G>C
18g.23928694G>TCA402064009LAMA3c.3538G>T (p.Asp1180Tyr)
c.8365G>T (p.Asp2789Tyr)
c.4960G>T (p.Asp1654Tyr)
c.8197G>T (p.Asp2733Tyr)
c.3143G>T
c.3370G>T (p.Asp1124Tyr)
c.70G>T (p.Asp24Tyr)
n.2943G>T
c.8392G>T (p.Asp2798Tyr)
c.8383G>T (p.Asp2795Tyr)
c.8374G>T (p.Asp2792Tyr)
c.8260G>T (p.Asp2754Tyr)
c.8095G>T (p.Asp2699Tyr)
c.6244G>T (p.Asp2082Tyr)
c.3934G>T (p.Asp1312Tyr)
n.8633G>T
18g.23928695A>CCA402064015LAMA3c.3539A>C (p.Asp1180Ala)
c.8366A>C (p.Asp2789Ala)
c.4961A>C (p.Asp1654Ala)
c.8198A>C (p.Asp2733Ala)
c.3144A>C
c.3371A>C (p.Asp1124Ala)
c.71A>C (p.Asp24Ala)
n.2944A>C
c.8393A>C (p.Asp2798Ala)
c.8384A>C (p.Asp2795Ala)
c.8375A>C (p.Asp2792Ala)
c.8261A>C (p.Asp2754Ala)
c.8096A>C (p.Asp2699Ala)
c.6245A>C (p.Asp2082Ala)
c.3935A>C (p.Asp1312Ala)
n.8634A>C
18g.23928695A>GCA402064013LAMA3c.3539A>G (p.Asp1180Gly)
c.8366A>G (p.Asp2789Gly)
c.4961A>G (p.Asp1654Gly)
c.8198A>G (p.Asp2733Gly)
c.3144A>G
c.3371A>G (p.Asp1124Gly)
c.71A>G (p.Asp24Gly)
n.2944A>G
c.8393A>G (p.Asp2798Gly)
c.8384A>G (p.Asp2795Gly)
c.8375A>G (p.Asp2792Gly)
c.8261A>G (p.Asp2754Gly)
c.8096A>G (p.Asp2699Gly)
c.6245A>G (p.Asp2082Gly)
c.3935A>G (p.Asp1312Gly)
n.8634A>G
18g.23928695A>TCA402064011LAMA3c.3539A>T (p.Asp1180Val)
c.8366A>T (p.Asp2789Val)
c.4961A>T (p.Asp1654Val)
c.8198A>T (p.Asp2733Val)
c.3144A>T
c.3371A>T (p.Asp1124Val)
c.71A>T (p.Asp24Val)
n.2944A>T
c.8393A>T (p.Asp2798Val)
c.8384A>T (p.Asp2795Val)
c.8375A>T (p.Asp2792Val)
c.8261A>T (p.Asp2754Val)
c.8096A>T (p.Asp2699Val)
c.6245A>T (p.Asp2082Val)
c.3935A>T (p.Asp1312Val)
n.8634A>T
18g.23928696C>ACA402064016LAMA3c.3540C>A (p.Asp1180Glu)
c.8367C>A (p.Asp2789Glu)
c.4962C>A (p.Asp1654Glu)
c.8199C>A (p.Asp2733Glu)
c.3145C>A
c.3372C>A (p.Asp1124Glu)
c.72C>A (p.Asp24Glu)
n.2945C>A
c.8394C>A (p.Asp2798Glu)
c.8385C>A (p.Asp2795Glu)
c.8376C>A (p.Asp2792Glu)
c.8262C>A (p.Asp2754Glu)
c.8097C>A (p.Asp2699Glu)
c.6246C>A (p.Asp2082Glu)
c.3936C>A (p.Asp1312Glu)
n.8635C>A
18g.23928696C>GCA402064017LAMA3c.3540C>G (p.Asp1180Glu)
c.8367C>G (p.Asp2789Glu)
c.4962C>G (p.Asp1654Glu)
c.8199C>G (p.Asp2733Glu)
c.3145C>G
c.3372C>G (p.Asp1124Glu)
c.72C>G (p.Asp24Glu)
n.2945C>G
c.8394C>G (p.Asp2798Glu)
c.8385C>G (p.Asp2795Glu)
c.8376C>G (p.Asp2792Glu)
c.8262C>G (p.Asp2754Glu)
c.8097C>G (p.Asp2699Glu)
c.6246C>G (p.Asp2082Glu)
c.3936C>G (p.Asp1312Glu)
n.8635C>G
18g.23928696C>TCA503340797LAMA3c.3540C>T (p.Asp1180=)
c.8367C>T (p.Asp2789=)
c.4962C>T (p.Asp1654=)
c.8199C>T (p.Asp2733=)
c.3145C>T
c.3372C>T (p.Asp1124=)
c.72C>T (p.Asp24=)
n.2945C>T
c.8394C>T (p.Asp2798=)
c.8385C>T (p.Asp2795=)
c.8376C>T (p.Asp2792=)
c.8262C>T (p.Asp2754=)
c.8097C>T (p.Asp2699=)
c.6246C>T (p.Asp2082=)
c.3936C>T (p.Asp1312=)
n.8635C>T
 gnomAD v4
18g.23928697C>ACA402064019LAMA3c.3541C>A (p.His1181Asn)
c.8368C>A (p.His2790Asn)
c.4963C>A (p.His1655Asn)
c.8200C>A (p.His2734Asn)
c.3146C>A
c.3373C>A (p.His1125Asn)
c.73C>A (p.His25Asn)
n.2946C>A
c.8395C>A (p.His2799Asn)
c.8386C>A (p.His2796Asn)
c.8377C>A (p.His2793Asn)
c.8263C>A (p.His2755Asn)
c.8098C>A (p.His2700Asn)
c.6247C>A (p.His2083Asn)
c.3937C>A (p.His1313Asn)
n.8636C>A
 dbSNP gnomAD v3 gnomAD v4
18g.23928697C=CA2290334839LAMA3c.3541C= (p.His1181=)
c.8368C= (p.His2790=)
c.4963C= (p.His1655=)
c.8200C= (p.His2734=)
c.3146C=
c.3373C= (p.His1125=)
c.73C= (p.His25=)
n.2946C=
c.8395C= (p.His2799=)
c.8386C= (p.His2796=)
c.8377C= (p.His2793=)
c.8263C= (p.His2755=)
c.8098C= (p.His2700=)
c.6247C= (p.His2083=)
c.3937C= (p.His1313=)
n.8636C=
18g.23928697C>GCA402064021LAMA3c.3541C>G (p.His1181Asp)
c.8368C>G (p.His2790Asp)
c.4963C>G (p.His1655Asp)
c.8200C>G (p.His2734Asp)
c.3146C>G
c.3373C>G (p.His1125Asp)
c.73C>G (p.His25Asp)
n.2946C>G
c.8395C>G (p.His2799Asp)
c.8386C>G (p.His2796Asp)
c.8377C>G (p.His2793Asp)
c.8263C>G (p.His2755Asp)
c.8098C>G (p.His2700Asp)
c.6247C>G (p.His2083Asp)
c.3937C>G (p.His1313Asp)
n.8636C>G
18g.23928697C>TCA402064022LAMA3c.3541C>T (p.His1181Tyr)
c.8368C>T (p.His2790Tyr)
c.4963C>T (p.His1655Tyr)
c.8200C>T (p.His2734Tyr)
c.3146C>T
c.3373C>T (p.His1125Tyr)
c.73C>T (p.His25Tyr)
n.2946C>T
c.8395C>T (p.His2799Tyr)
c.8386C>T (p.His2796Tyr)
c.8377C>T (p.His2793Tyr)
c.8263C>T (p.His2755Tyr)
c.8098C>T (p.His2700Tyr)
c.6247C>T (p.His2083Tyr)
c.3937C>T (p.His1313Tyr)
n.8636C>T
 gnomAD v4
18g.23928698A>CCA402064025LAMA3c.3542A>C (p.His1181Pro)
c.8369A>C (p.His2790Pro)
c.4964A>C (p.His1655Pro)
c.8201A>C (p.His2734Pro)
c.3147A>C
c.3374A>C (p.His1125Pro)
c.74A>C (p.His25Pro)
n.2947A>C
c.8396A>C (p.His2799Pro)
c.8387A>C (p.His2796Pro)
c.8378A>C (p.His2793Pro)
c.8264A>C (p.His2755Pro)
c.8099A>C (p.His2700Pro)
c.6248A>C (p.His2083Pro)
c.3938A>C (p.His1313Pro)
n.8637A>C
18g.23928698A>GCA402064027LAMA3c.3542A>G (p.His1181Arg)
c.8369A>G (p.His2790Arg)
c.4964A>G (p.His1655Arg)
c.8201A>G (p.His2734Arg)
c.3147A>G
c.3374A>G (p.His1125Arg)
c.74A>G (p.His25Arg)
n.2947A>G
c.8396A>G (p.His2799Arg)
c.8387A>G (p.His2796Arg)
c.8378A>G (p.His2793Arg)
c.8264A>G (p.His2755Arg)
c.8099A>G (p.His2700Arg)
c.6248A>G (p.His2083Arg)
c.3938A>G (p.His1313Arg)
n.8637A>G
 gnomAD v4
18g.23928698A>TCA402064028LAMA3c.3542A>T (p.His1181Leu)
c.8369A>T (p.His2790Leu)
c.4964A>T (p.His1655Leu)
c.8201A>T (p.His2734Leu)
c.3147A>T
c.3374A>T (p.His1125Leu)
c.74A>T (p.His25Leu)
n.2947A>T
c.8396A>T (p.His2799Leu)
c.8387A>T (p.His2796Leu)
c.8378A>T (p.His2793Leu)
c.8264A>T (p.His2755Leu)
c.8099A>T (p.His2700Leu)
c.6248A>T (p.His2083Leu)
c.3938A>T (p.His1313Leu)
n.8637A>T
18g.23928699C>ACA402064031LAMA3c.3543C>A (p.His1181Gln)
c.8370C>A (p.His2790Gln)
c.4965C>A (p.His1655Gln)
c.8202C>A (p.His2734Gln)
c.3148C>A
c.3375C>A (p.His1125Gln)
c.75C>A (p.His25Gln)
n.2948C>A
c.8397C>A (p.His2799Gln)
c.8388C>A (p.His2796Gln)
c.8379C>A (p.His2793Gln)
c.8265C>A (p.His2755Gln)
c.8100C>A (p.His2700Gln)
c.6249C>A (p.His2083Gln)
c.3939C>A (p.His1313Gln)
n.8638C>A
18g.23928699C>GCA402064032LAMA3c.3543C>G (p.His1181Gln)
c.8370C>G (p.His2790Gln)
c.4965C>G (p.His1655Gln)
c.8202C>G (p.His2734Gln)
c.3148C>G
c.3375C>G (p.His1125Gln)
c.75C>G (p.His25Gln)
n.2948C>G
c.8397C>G (p.His2799Gln)
c.8388C>G (p.His2796Gln)
c.8379C>G (p.His2793Gln)
c.8265C>G (p.His2755Gln)
c.8100C>G (p.His2700Gln)
c.6249C>G (p.His2083Gln)
c.3939C>G (p.His1313Gln)
n.8638C>G
18g.23928699C>TCA503340798LAMA3c.3543C>T (p.His1181=)
c.8370C>T (p.His2790=)
c.4965C>T (p.His1655=)
c.8202C>T (p.His2734=)
c.3148C>T
c.3375C>T (p.His1125=)
c.75C>T (p.His25=)
n.2948C>T
c.8397C>T (p.His2799=)
c.8388C>T (p.His2796=)
c.8379C>T (p.His2793=)
c.8265C>T (p.His2755=)
c.8100C>T (p.His2700=)
c.6249C>T (p.His2083=)
c.3939C>T (p.His1313=)
n.8638C>T
 ClinVar
18g.23928700C>ACA402064035LAMA3c.3544C>A (p.Leu1182Ile)
c.8371C>A (p.Leu2791Ile)
c.4966C>A (p.Leu1656Ile)
c.8203C>A (p.Leu2735Ile)
c.3149C>A
c.3376C>A (p.Leu1126Ile)
c.76C>A (p.Leu26Ile)
n.2949C>A
c.8398C>A (p.Leu2800Ile)
c.8389C>A (p.Leu2797Ile)
c.8380C>A (p.Leu2794Ile)
c.8266C>A (p.Leu2756Ile)
c.8101C>A (p.Leu2701Ile)
c.6250C>A (p.Leu2084Ile)
c.3940C>A (p.Leu1314Ile)
n.8639C>A
 dbSNP gnomAD v2 gnomAD v4
18g.23928700C=CA2290334840LAMA3c.3544C= (p.Leu1182=)
c.8371C= (p.Leu2791=)
c.4966C= (p.Leu1656=)
c.8203C= (p.Leu2735=)
c.3149C=
c.3376C= (p.Leu1126=)
c.76C= (p.Leu26=)
n.2949C=
c.8398C= (p.Leu2800=)
c.8389C= (p.Leu2797=)
c.8380C= (p.Leu2794=)
c.8266C= (p.Leu2756=)
c.8101C= (p.Leu2701=)
c.6250C= (p.Leu2084=)
c.3940C= (p.Leu1314=)
n.8639C=
18g.23928700C>GCA402064036LAMA3c.3544C>G (p.Leu1182Val)
c.8371C>G (p.Leu2791Val)
c.4966C>G (p.Leu1656Val)
c.8203C>G (p.Leu2735Val)
c.3149C>G
c.3376C>G (p.Leu1126Val)
c.76C>G (p.Leu26Val)
n.2949C>G
c.8398C>G (p.Leu2800Val)
c.8389C>G (p.Leu2797Val)
c.8380C>G (p.Leu2794Val)
c.8266C>G (p.Leu2756Val)
c.8101C>G (p.Leu2701Val)
c.6250C>G (p.Leu2084Val)
c.3940C>G (p.Leu1314Val)
n.8639C>G
18g.23928700C>TCA8916904LAMA3c.3544C>T (p.Leu1182Phe)
c.8371C>T (p.Leu2791Phe)
c.4966C>T (p.Leu1656Phe)
c.8203C>T (p.Leu2735Phe)
c.3149C>T
c.3376C>T (p.Leu1126Phe)
c.76C>T (p.Leu26Phe)
n.2949C>T
c.8398C>T (p.Leu2800Phe)
c.8389C>T (p.Leu2797Phe)
c.8380C>T (p.Leu2794Phe)
c.8266C>T (p.Leu2756Phe)
c.8101C>T (p.Leu2701Phe)
c.6250C>T (p.Leu2084Phe)
c.3940C>T (p.Leu1314Phe)
n.8639C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928701T>ACA402064043LAMA3c.3545T>A (p.Leu1182His)
c.8372T>A (p.Leu2791His)
c.4967T>A (p.Leu1656His)
c.8204T>A (p.Leu2735His)
c.3150T>A
c.3377T>A (p.Leu1126His)
c.77T>A (p.Leu26His)
n.2950T>A
c.8399T>A (p.Leu2800His)
c.8390T>A (p.Leu2797His)
c.8381T>A (p.Leu2794His)
c.8267T>A (p.Leu2756His)
c.8102T>A (p.Leu2701His)
c.6251T>A (p.Leu2084His)
c.3941T>A (p.Leu1314His)
n.8640T>A
18g.23928701T>CCA402064041LAMA3c.3545T>C (p.Leu1182Pro)
c.8372T>C (p.Leu2791Pro)
c.4967T>C (p.Leu1656Pro)
c.8204T>C (p.Leu2735Pro)
c.3150T>C
c.3377T>C (p.Leu1126Pro)
c.77T>C (p.Leu26Pro)
n.2950T>C
c.8399T>C (p.Leu2800Pro)
c.8390T>C (p.Leu2797Pro)
c.8381T>C (p.Leu2794Pro)
c.8267T>C (p.Leu2756Pro)
c.8102T>C (p.Leu2701Pro)
c.6251T>C (p.Leu2084Pro)
c.3941T>C (p.Leu1314Pro)
n.8640T>C
18g.23928701T>GCA402064039LAMA3c.3545T>G (p.Leu1182Arg)
c.8372T>G (p.Leu2791Arg)
c.4967T>G (p.Leu1656Arg)
c.8204T>G (p.Leu2735Arg)
c.3150T>G
c.3377T>G (p.Leu1126Arg)
c.77T>G (p.Leu26Arg)
n.2950T>G
c.8399T>G (p.Leu2800Arg)
c.8390T>G (p.Leu2797Arg)
c.8381T>G (p.Leu2794Arg)
c.8267T>G (p.Leu2756Arg)
c.8102T>G (p.Leu2701Arg)
c.6251T>G (p.Leu2084Arg)
c.3941T>G (p.Leu1314Arg)
n.8640T>G
18g.23928702C>ACA503340799LAMA3c.3546C>A (p.Leu1182=)
c.8373C>A (p.Leu2791=)
c.4968C>A (p.Leu1656=)
c.8205C>A (p.Leu2735=)
c.3151C>A
c.3378C>A (p.Leu1126=)
c.78C>A (p.Leu26=)
n.2951C>A
c.8400C>A (p.Leu2800=)
c.8391C>A (p.Leu2797=)
c.8382C>A (p.Leu2794=)
c.8268C>A (p.Leu2756=)
c.8103C>A (p.Leu2701=)
c.6252C>A (p.Leu2084=)
c.3942C>A (p.Leu1314=)
n.8641C>A
18g.23928702C>GCA503340800LAMA3c.3546C>G (p.Leu1182=)
c.8373C>G (p.Leu2791=)
c.4968C>G (p.Leu1656=)
c.8205C>G (p.Leu2735=)
c.3151C>G
c.3378C>G (p.Leu1126=)
c.78C>G (p.Leu26=)
n.2951C>G
c.8400C>G (p.Leu2800=)
c.8391C>G (p.Leu2797=)
c.8382C>G (p.Leu2794=)
c.8268C>G (p.Leu2756=)
c.8103C>G (p.Leu2701=)
c.6252C>G (p.Leu2084=)
c.3942C>G (p.Leu1314=)
n.8641C>G
18g.23928702C>TCA503340801LAMA3c.3546C>T (p.Leu1182=)
c.8373C>T (p.Leu2791=)
c.4968C>T (p.Leu1656=)
c.8205C>T (p.Leu2735=)
c.3151C>T
c.3378C>T (p.Leu1126=)
c.78C>T (p.Leu26=)
n.2951C>T
c.8400C>T (p.Leu2800=)
c.8391C>T (p.Leu2797=)
c.8382C>T (p.Leu2794=)
c.8268C>T (p.Leu2756=)
c.8103C>T (p.Leu2701=)
c.6252C>T (p.Leu2084=)
c.3942C>T (p.Leu1314=)
n.8641C>T
18g.23928703C>ACA402064045LAMA3c.3547C>A (p.Gln1183Lys)
c.8374C>A (p.Gln2792Lys)
c.4969C>A (p.Gln1657Lys)
c.8206C>A (p.Gln2736Lys)
c.3152C>A
c.3379C>A (p.Gln1127Lys)
c.79C>A (p.Gln27Lys)
n.2952C>A
c.8401C>A (p.Gln2801Lys)
c.8392C>A (p.Gln2798Lys)
c.8383C>A (p.Gln2795Lys)
c.8269C>A (p.Gln2757Lys)
c.8104C>A (p.Gln2702Lys)
c.6253C>A (p.Gln2085Lys)
c.3943C>A (p.Gln1315Lys)
n.8642C>A
18g.23928703C=CA2290334841LAMA3c.3547C= (p.Gln1183=)
c.8374C= (p.Gln2792=)
c.4969C= (p.Gln1657=)
c.8206C= (p.Gln2736=)
c.3152C=
c.3379C= (p.Gln1127=)
c.79C= (p.Gln27=)
n.2952C=
c.8401C= (p.Gln2801=)
c.8392C= (p.Gln2798=)
c.8383C= (p.Gln2795=)
c.8269C= (p.Gln2757=)
c.8104C= (p.Gln2702=)
c.6253C= (p.Gln2085=)
c.3943C= (p.Gln1315=)
n.8642C=
18g.23928703C>GCA297122869LAMA3c.3547C>G (p.Gln1183Glu)
c.8374C>G (p.Gln2792Glu)
c.4969C>G (p.Gln1657Glu)
c.8206C>G (p.Gln2736Glu)
c.3152C>G
c.3379C>G (p.Gln1127Glu)
c.79C>G (p.Gln27Glu)
n.2952C>G
c.8401C>G (p.Gln2801Glu)
c.8392C>G (p.Gln2798Glu)
c.8383C>G (p.Gln2795Glu)
c.8269C>G (p.Gln2757Glu)
c.8104C>G (p.Gln2702Glu)
c.6253C>G (p.Gln2085Glu)
c.3943C>G (p.Gln1315Glu)
n.8642C>G
 ClinVar dbSNP gnomAD v4
18g.23928703C>TCA402064047LAMA3c.3547C>T (p.Gln1183Ter)
c.8374C>T (p.Gln2792Ter)
c.4969C>T (p.Gln1657Ter)
c.8206C>T (p.Gln2736Ter)
c.3152C>T
c.3379C>T (p.Gln1127Ter)
c.79C>T (p.Gln27Ter)
n.2952C>T
c.8401C>T (p.Gln2801Ter)
c.8392C>T (p.Gln2798Ter)
c.8383C>T (p.Gln2795Ter)
c.8269C>T (p.Gln2757Ter)
c.8104C>T (p.Gln2702Ter)
c.6253C>T (p.Gln2085Ter)
c.3943C>T (p.Gln1315Ter)
n.8642C>T
 ClinVar
18g.23928704A>CCA402064051LAMA3c.3548A>C (p.Gln1183Pro)
c.8375A>C (p.Gln2792Pro)
c.4970A>C (p.Gln1657Pro)
c.8207A>C (p.Gln2736Pro)
c.3153A>C
c.3380A>C (p.Gln1127Pro)
c.80A>C (p.Gln27Pro)
n.2953A>C
c.8402A>C (p.Gln2801Pro)
c.8393A>C (p.Gln2798Pro)
c.8384A>C (p.Gln2795Pro)
c.8270A>C (p.Gln2757Pro)
c.8105A>C (p.Gln2702Pro)
c.6254A>C (p.Gln2085Pro)
c.3944A>C (p.Gln1315Pro)
n.8643A>C
 gnomAD v4
18g.23928704A>GCA402064054LAMA3c.3548A>G (p.Gln1183Arg)
c.8375A>G (p.Gln2792Arg)
c.4970A>G (p.Gln1657Arg)
c.8207A>G (p.Gln2736Arg)
c.3153A>G
c.3380A>G (p.Gln1127Arg)
c.80A>G (p.Gln27Arg)
n.2953A>G
c.8402A>G (p.Gln2801Arg)
c.8393A>G (p.Gln2798Arg)
c.8384A>G (p.Gln2795Arg)
c.8270A>G (p.Gln2757Arg)
c.8105A>G (p.Gln2702Arg)
c.6254A>G (p.Gln2085Arg)
c.3944A>G (p.Gln1315Arg)
n.8643A>G
18g.23928704A>TCA402064052LAMA3c.3548A>T (p.Gln1183Leu)
c.8375A>T (p.Gln2792Leu)
c.4970A>T (p.Gln1657Leu)
c.8207A>T (p.Gln2736Leu)
c.3153A>T
c.3380A>T (p.Gln1127Leu)
c.80A>T (p.Gln27Leu)
n.2953A>T
c.8402A>T (p.Gln2801Leu)
c.8393A>T (p.Gln2798Leu)
c.8384A>T (p.Gln2795Leu)
c.8270A>T (p.Gln2757Leu)
c.8105A>T (p.Gln2702Leu)
c.6254A>T (p.Gln2085Leu)
c.3944A>T (p.Gln1315Leu)
n.8643A>T
18g.23928705G>ACA503340802LAMA3c.3549G>A (p.Gln1183=)
c.8376G>A (p.Gln2792=)
c.4971G>A (p.Gln1657=)
c.8208G>A (p.Gln2736=)
c.3154G>A
c.3381G>A (p.Gln1127=)
c.81G>A (p.Gln27=)
n.2954G>A
c.8403G>A (p.Gln2801=)
c.8394G>A (p.Gln2798=)
c.8385G>A (p.Gln2795=)
c.8271G>A (p.Gln2757=)
c.8106G>A (p.Gln2702=)
c.6255G>A (p.Gln2085=)
c.3945G>A (p.Gln1315=)
n.8644G>A
 ClinVar
18g.23928705G>CCA402064055LAMA3c.3549G>C (p.Gln1183His)
c.8376G>C (p.Gln2792His)
c.4971G>C (p.Gln1657His)
c.8208G>C (p.Gln2736His)
c.3154G>C
c.3381G>C (p.Gln1127His)
c.81G>C (p.Gln27His)
n.2954G>C
c.8403G>C (p.Gln2801His)
c.8394G>C (p.Gln2798His)
c.8385G>C (p.Gln2795His)
c.8271G>C (p.Gln2757His)
c.8106G>C (p.Gln2702His)
c.6255G>C (p.Gln2085His)
c.3945G>C (p.Gln1315His)
n.8644G>C
18g.23928705G>TCA402064057LAMA3c.3549G>T (p.Gln1183His)
c.8376G>T (p.Gln2792His)
c.4971G>T (p.Gln1657His)
c.8208G>T (p.Gln2736His)
c.3154G>T
c.3381G>T (p.Gln1127His)
c.81G>T (p.Gln27His)
n.2954G>T
c.8403G>T (p.Gln2801His)
c.8394G>T (p.Gln2798His)
c.8385G>T (p.Gln2795His)
c.8271G>T (p.Gln2757His)
c.8106G>T (p.Gln2702His)
c.6255G>T (p.Gln2085His)
c.3945G>T (p.Gln1315His)
n.8644G>T
18g.23928706G>ACA402064060LAMA3c.3550G>A (p.Ala1184Thr)
c.8377G>A (p.Ala2793Thr)
c.4972G>A (p.Ala1658Thr)
c.8209G>A (p.Ala2737Thr)
c.3155G>A
c.3382G>A (p.Ala1128Thr)
c.82G>A (p.Ala28Thr)
n.2955G>A
c.8404G>A (p.Ala2802Thr)
c.8395G>A (p.Ala2799Thr)
c.8386G>A (p.Ala2796Thr)
c.8272G>A (p.Ala2758Thr)
c.8107G>A (p.Ala2703Thr)
c.6256G>A (p.Ala2086Thr)
c.3946G>A (p.Ala1316Thr)
n.8645G>A
18g.23928706G>CCA402064061LAMA3c.3550G>C (p.Ala1184Pro)
c.8377G>C (p.Ala2793Pro)
c.4972G>C (p.Ala1658Pro)
c.8209G>C (p.Ala2737Pro)
c.3155G>C
c.3382G>C (p.Ala1128Pro)
c.82G>C (p.Ala28Pro)
n.2955G>C
c.8404G>C (p.Ala2802Pro)
c.8395G>C (p.Ala2799Pro)
c.8386G>C (p.Ala2796Pro)
c.8272G>C (p.Ala2758Pro)
c.8107G>C (p.Ala2703Pro)
c.6256G>C (p.Ala2086Pro)
c.3946G>C (p.Ala1316Pro)
n.8645G>C
18g.23928706G>TCA402064062LAMA3c.3550G>T (p.Ala1184Ser)
c.8377G>T (p.Ala2793Ser)
c.4972G>T (p.Ala1658Ser)
c.8209G>T (p.Ala2737Ser)
c.3155G>T
c.3382G>T (p.Ala1128Ser)
c.82G>T (p.Ala28Ser)
n.2955G>T
c.8404G>T (p.Ala2802Ser)
c.8395G>T (p.Ala2799Ser)
c.8386G>T (p.Ala2796Ser)
c.8272G>T (p.Ala2758Ser)
c.8107G>T (p.Ala2703Ser)
c.6256G>T (p.Ala2086Ser)
c.3946G>T (p.Ala1316Ser)
n.8645G>T
18g.23928707C>ACA402064064LAMA3c.3551C>A (p.Ala1184Asp)
c.8378C>A (p.Ala2793Asp)
c.4973C>A (p.Ala1658Asp)
c.8210C>A (p.Ala2737Asp)
c.3156C>A
c.3383C>A (p.Ala1128Asp)
c.83C>A (p.Ala28Asp)
n.2956C>A
c.8405C>A (p.Ala2802Asp)
c.8396C>A (p.Ala2799Asp)
c.8387C>A (p.Ala2796Asp)
c.8273C>A (p.Ala2758Asp)
c.8108C>A (p.Ala2703Asp)
c.6257C>A (p.Ala2086Asp)
c.3947C>A (p.Ala1316Asp)
n.8646C>A
18g.23928707C=CA2290334842LAMA3c.3551C= (p.Ala1184=)
c.8378C= (p.Ala2793=)
c.4973C= (p.Ala1658=)
c.8210C= (p.Ala2737=)
c.3156C=
c.3383C= (p.Ala1128=)
c.83C= (p.Ala28=)
n.2956C=
c.8405C= (p.Ala2802=)
c.8396C= (p.Ala2799=)
c.8387C= (p.Ala2796=)
c.8273C= (p.Ala2758=)
c.8108C= (p.Ala2703=)
c.6257C= (p.Ala2086=)
c.3947C= (p.Ala1316=)
n.8646C=
18g.23928707C>GCA402064066LAMA3c.3551C>G (p.Ala1184Gly)
c.8378C>G (p.Ala2793Gly)
c.4973C>G (p.Ala1658Gly)
c.8210C>G (p.Ala2737Gly)
c.3156C>G
c.3383C>G (p.Ala1128Gly)
c.83C>G (p.Ala28Gly)
n.2956C>G
c.8405C>G (p.Ala2802Gly)
c.8396C>G (p.Ala2799Gly)
c.8387C>G (p.Ala2796Gly)
c.8273C>G (p.Ala2758Gly)
c.8108C>G (p.Ala2703Gly)
c.6257C>G (p.Ala2086Gly)
c.3947C>G (p.Ala1316Gly)
n.8646C>G
18g.23928707C>TCA402064067LAMA3c.3551C>T (p.Ala1184Val)
c.8378C>T (p.Ala2793Val)
c.4973C>T (p.Ala1658Val)
c.8210C>T (p.Ala2737Val)
c.3156C>T
c.3383C>T (p.Ala1128Val)
c.83C>T (p.Ala28Val)
n.2956C>T
c.8405C>T (p.Ala2802Val)
c.8396C>T (p.Ala2799Val)
c.8387C>T (p.Ala2796Val)
c.8273C>T (p.Ala2758Val)
c.8108C>T (p.Ala2703Val)
c.6257C>T (p.Ala2086Val)
c.3947C>T (p.Ala1316Val)
n.8646C>T
 dbSNP gnomAD v2 gnomAD v4
18g.23928708C>ACA503340803LAMA3c.3552C>A (p.Ala1184=)
c.8379C>A (p.Ala2793=)
c.4974C>A (p.Ala1658=)
c.8211C>A (p.Ala2737=)
c.3157C>A
c.3384C>A (p.Ala1128=)
c.84C>A (p.Ala28=)
n.2957C>A
c.8406C>A (p.Ala2802=)
c.8397C>A (p.Ala2799=)
c.8388C>A (p.Ala2796=)
c.8274C>A (p.Ala2758=)
c.8109C>A (p.Ala2703=)
c.6258C>A (p.Ala2086=)
c.3948C>A (p.Ala1316=)
n.8647C>A
 ClinVar
18g.23928708C>GCA503340804LAMA3c.3552C>G (p.Ala1184=)
c.8379C>G (p.Ala2793=)
c.4974C>G (p.Ala1658=)
c.8211C>G (p.Ala2737=)
c.3157C>G
c.3384C>G (p.Ala1128=)
c.84C>G (p.Ala28=)
n.2957C>G
c.8406C>G (p.Ala2802=)
c.8397C>G (p.Ala2799=)
c.8388C>G (p.Ala2796=)
c.8274C>G (p.Ala2758=)
c.8109C>G (p.Ala2703=)
c.6258C>G (p.Ala2086=)
c.3948C>G (p.Ala1316=)
n.8647C>G
18g.23928708C>TCA503340805LAMA3c.3552C>T (p.Ala1184=)
c.8379C>T (p.Ala2793=)
c.4974C>T (p.Ala1658=)
c.8211C>T (p.Ala2737=)
c.3157C>T
c.3384C>T (p.Ala1128=)
c.84C>T (p.Ala28=)
n.2957C>T
c.8406C>T (p.Ala2802=)
c.8397C>T (p.Ala2799=)
c.8388C>T (p.Ala2796=)
c.8274C>T (p.Ala2758=)
c.8109C>T (p.Ala2703=)
c.6258C>T (p.Ala2086=)
c.3948C>T (p.Ala1316=)
n.8647C>T
18g.23928709T>ACA402064068LAMA3c.3553T>A (p.Ser1185Thr)
c.8380T>A (p.Ser2794Thr)
c.4975T>A (p.Ser1659Thr)
c.8212T>A (p.Ser2738Thr)
c.3158T>A
c.3385T>A (p.Ser1129Thr)
c.85T>A (p.Ser29Thr)
n.2958T>A
c.8407T>A (p.Ser2803Thr)
c.8398T>A (p.Ser2800Thr)
c.8389T>A (p.Ser2797Thr)
c.8275T>A (p.Ser2759Thr)
c.8110T>A (p.Ser2704Thr)
c.6259T>A (p.Ser2087Thr)
c.3949T>A (p.Ser1317Thr)
n.8648T>A
18g.23928709T>CCA402064070LAMA3c.3553T>C (p.Ser1185Pro)
c.8380T>C (p.Ser2794Pro)
c.4975T>C (p.Ser1659Pro)
c.8212T>C (p.Ser2738Pro)
c.3158T>C
c.3385T>C (p.Ser1129Pro)
c.85T>C (p.Ser29Pro)
n.2958T>C
c.8407T>C (p.Ser2803Pro)
c.8398T>C (p.Ser2800Pro)
c.8389T>C (p.Ser2797Pro)
c.8275T>C (p.Ser2759Pro)
c.8110T>C (p.Ser2704Pro)
c.6259T>C (p.Ser2087Pro)
c.3949T>C (p.Ser1317Pro)
n.8648T>C
18g.23928709T>GCA402064072LAMA3c.3553T>G (p.Ser1185Ala)
c.8380T>G (p.Ser2794Ala)
c.4975T>G (p.Ser1659Ala)
c.8212T>G (p.Ser2738Ala)
c.3158T>G
c.3385T>G (p.Ser1129Ala)
c.85T>G (p.Ser29Ala)
n.2958T>G
c.8407T>G (p.Ser2803Ala)
c.8398T>G (p.Ser2800Ala)
c.8389T>G (p.Ser2797Ala)
c.8275T>G (p.Ser2759Ala)
c.8110T>G (p.Ser2704Ala)
c.6259T>G (p.Ser2087Ala)
c.3949T>G (p.Ser1317Ala)
n.8648T>G
18g.23928710C>ACA402064078LAMA3c.3554C>A (p.Ser1185Ter)
c.8381C>A (p.Ser2794Ter)
c.4976C>A (p.Ser1659Ter)
c.8213C>A (p.Ser2738Ter)
c.3159C>A
c.3386C>A (p.Ser1129Ter)
c.86C>A (p.Ser29Ter)
n.2959C>A
c.8408C>A (p.Ser2803Ter)
c.8399C>A (p.Ser2800Ter)
c.8390C>A (p.Ser2797Ter)
c.8276C>A (p.Ser2759Ter)
c.8111C>A (p.Ser2704Ter)
c.6260C>A (p.Ser2087Ter)
c.3950C>A (p.Ser1317Ter)
n.8649C>A
18g.23928710C>GCA402064074LAMA3c.3554C>G (p.Ser1185Ter)
c.8381C>G (p.Ser2794Ter)
c.4976C>G (p.Ser1659Ter)
c.8213C>G (p.Ser2738Ter)
c.3159C>G
c.3386C>G (p.Ser1129Ter)
c.86C>G (p.Ser29Ter)
n.2959C>G
c.8408C>G (p.Ser2803Ter)
c.8399C>G (p.Ser2800Ter)
c.8390C>G (p.Ser2797Ter)
c.8276C>G (p.Ser2759Ter)
c.8111C>G (p.Ser2704Ter)
c.6260C>G (p.Ser2087Ter)
c.3950C>G (p.Ser1317Ter)
n.8649C>G
18g.23928710C>TCA402064076LAMA3c.3554C>T (p.Ser1185Leu)
c.8381C>T (p.Ser2794Leu)
c.4976C>T (p.Ser1659Leu)
c.8213C>T (p.Ser2738Leu)
c.3159C>T
c.3386C>T (p.Ser1129Leu)
c.86C>T (p.Ser29Leu)
n.2959C>T
c.8408C>T (p.Ser2803Leu)
c.8399C>T (p.Ser2800Leu)
c.8390C>T (p.Ser2797Leu)
c.8276C>T (p.Ser2759Leu)
c.8111C>T (p.Ser2704Leu)
c.6260C>T (p.Ser2087Leu)
c.3950C>T (p.Ser1317Leu)
n.8649C>T
 ClinVar dbSNP
18g.23928711A>CCA503340806LAMA3c.3555A>C (p.Ser1185=)
c.8382A>C (p.Ser2794=)
c.4977A>C (p.Ser1659=)
c.8214A>C (p.Ser2738=)
c.3160A>C
c.3387A>C (p.Ser1129=)
c.87A>C (p.Ser29=)
n.2960A>C
c.8409A>C (p.Ser2803=)
c.8400A>C (p.Ser2800=)
c.8391A>C (p.Ser2797=)
c.8277A>C (p.Ser2759=)
c.8112A>C (p.Ser2704=)
c.6261A>C (p.Ser2087=)
c.3951A>C (p.Ser1317=)
n.8650A>C
18g.23928711A>GCA503340807LAMA3c.3555A>G (p.Ser1185=)
c.8382A>G (p.Ser2794=)
c.4977A>G (p.Ser1659=)
c.8214A>G (p.Ser2738=)
c.3160A>G
c.3387A>G (p.Ser1129=)
c.87A>G (p.Ser29=)
n.2960A>G
c.8409A>G (p.Ser2803=)
c.8400A>G (p.Ser2800=)
c.8391A>G (p.Ser2797=)
c.8277A>G (p.Ser2759=)
c.8112A>G (p.Ser2704=)
c.6261A>G (p.Ser2087=)
c.3951A>G (p.Ser1317=)
n.8650A>G
18g.23928711A>TCA503340808LAMA3c.3555A>T (p.Ser1185=)
c.8382A>T (p.Ser2794=)
c.4977A>T (p.Ser1659=)
c.8214A>T (p.Ser2738=)
c.3160A>T
c.3387A>T (p.Ser1129=)
c.87A>T (p.Ser29=)
n.2960A>T
c.8409A>T (p.Ser2803=)
c.8400A>T (p.Ser2800=)
c.8391A>T (p.Ser2797=)
c.8277A>T (p.Ser2759=)
c.8112A>T (p.Ser2704=)
c.6261A>T (p.Ser2087=)
c.3951A>T (p.Ser1317=)
n.8650A>T
18g.23928712T>ACA402064080LAMA3c.3556T>A (p.Phe1186Ile)
c.8383T>A (p.Phe2795Ile)
c.4978T>A (p.Phe1660Ile)
c.8215T>A (p.Phe2739Ile)
c.3161T>A
c.3388T>A (p.Phe1130Ile)
c.88T>A (p.Phe30Ile)
n.2961T>A
c.8410T>A (p.Phe2804Ile)
c.8401T>A (p.Phe2801Ile)
c.8392T>A (p.Phe2798Ile)
c.8278T>A (p.Phe2760Ile)
c.8113T>A (p.Phe2705Ile)
c.6262T>A (p.Phe2088Ile)
c.3952T>A (p.Phe1318Ile)
n.8651T>A
18g.23928712T>CCA402064081LAMA3c.3556T>C (p.Phe1186Leu)
c.8383T>C (p.Phe2795Leu)
c.4978T>C (p.Phe1660Leu)
c.8215T>C (p.Phe2739Leu)
c.3161T>C
c.3388T>C (p.Phe1130Leu)
c.88T>C (p.Phe30Leu)
n.2961T>C
c.8410T>C (p.Phe2804Leu)
c.8401T>C (p.Phe2801Leu)
c.8392T>C (p.Phe2798Leu)
c.8278T>C (p.Phe2760Leu)
c.8113T>C (p.Phe2705Leu)
c.6262T>C (p.Phe2088Leu)
c.3952T>C (p.Phe1318Leu)
n.8651T>C
18g.23928712T>GCA402064084LAMA3c.3556T>G (p.Phe1186Val)
c.8383T>G (p.Phe2795Val)
c.4978T>G (p.Phe1660Val)
c.8215T>G (p.Phe2739Val)
c.3161T>G
c.3388T>G (p.Phe1130Val)
c.88T>G (p.Phe30Val)
n.2961T>G
c.8410T>G (p.Phe2804Val)
c.8401T>G (p.Phe2801Val)
c.8392T>G (p.Phe2798Val)
c.8278T>G (p.Phe2760Val)
c.8113T>G (p.Phe2705Val)
c.6262T>G (p.Phe2088Val)
c.3952T>G (p.Phe1318Val)
n.8651T>G
18g.23928713T>ACA402064086LAMA3c.3557T>A (p.Phe1186Tyr)
c.8384T>A (p.Phe2795Tyr)
c.4979T>A (p.Phe1660Tyr)
c.8216T>A (p.Phe2739Tyr)
c.3162T>A
c.3389T>A (p.Phe1130Tyr)
c.89T>A (p.Phe30Tyr)
n.2962T>A
c.8411T>A (p.Phe2804Tyr)
c.8402T>A (p.Phe2801Tyr)
c.8393T>A (p.Phe2798Tyr)
c.8279T>A (p.Phe2760Tyr)
c.8114T>A (p.Phe2705Tyr)
c.6263T>A (p.Phe2088Tyr)
c.3953T>A (p.Phe1318Tyr)
n.8652T>A
18g.23928713T>CCA402064088LAMA3c.3557T>C (p.Phe1186Ser)
c.8384T>C (p.Phe2795Ser)
c.4979T>C (p.Phe1660Ser)
c.8216T>C (p.Phe2739Ser)
c.3162T>C
c.3389T>C (p.Phe1130Ser)
c.89T>C (p.Phe30Ser)
n.2962T>C
c.8411T>C (p.Phe2804Ser)
c.8402T>C (p.Phe2801Ser)
c.8393T>C (p.Phe2798Ser)
c.8279T>C (p.Phe2760Ser)
c.8114T>C (p.Phe2705Ser)
c.6263T>C (p.Phe2088Ser)
c.3953T>C (p.Phe1318Ser)
n.8652T>C
 gnomAD v4
18g.23928713T>GCA402064090LAMA3c.3557T>G (p.Phe1186Cys)
c.8384T>G (p.Phe2795Cys)
c.4979T>G (p.Phe1660Cys)
c.8216T>G (p.Phe2739Cys)
c.3162T>G
c.3389T>G (p.Phe1130Cys)
c.89T>G (p.Phe30Cys)
n.2962T>G
c.8411T>G (p.Phe2804Cys)
c.8402T>G (p.Phe2801Cys)
c.8393T>G (p.Phe2798Cys)
c.8279T>G (p.Phe2760Cys)
c.8114T>G (p.Phe2705Cys)
c.6263T>G (p.Phe2088Cys)
c.3953T>G (p.Phe1318Cys)
n.8652T>G
18g.23928714T>ACA402064091LAMA3c.3558T>A (p.Phe1186Leu)
c.8385T>A (p.Phe2795Leu)
c.4980T>A (p.Phe1660Leu)
c.8217T>A (p.Phe2739Leu)
c.3163T>A
c.3390T>A (p.Phe1130Leu)
c.90T>A (p.Phe30Leu)
n.2963T>A
c.8412T>A (p.Phe2804Leu)
c.8403T>A (p.Phe2801Leu)
c.8394T>A (p.Phe2798Leu)
c.8280T>A (p.Phe2760Leu)
c.8115T>A (p.Phe2705Leu)
c.6264T>A (p.Phe2088Leu)
c.3954T>A (p.Phe1318Leu)
n.8653T>A
18g.23928714T>CCA503340809LAMA3c.3558T>C (p.Phe1186=)
c.8385T>C (p.Phe2795=)
c.4980T>C (p.Phe1660=)
c.8217T>C (p.Phe2739=)
c.3163T>C
c.3390T>C (p.Phe1130=)
c.90T>C (p.Phe30=)
n.2963T>C
c.8412T>C (p.Phe2804=)
c.8403T>C (p.Phe2801=)
c.8394T>C (p.Phe2798=)
c.8280T>C (p.Phe2760=)
c.8115T>C (p.Phe2705=)
c.6264T>C (p.Phe2088=)
c.3954T>C (p.Phe1318=)
n.8653T>C
18g.23928714T>GCA402064093LAMA3c.3558T>G (p.Phe1186Leu)
c.8385T>G (p.Phe2795Leu)
c.4980T>G (p.Phe1660Leu)
c.8217T>G (p.Phe2739Leu)
c.3163T>G
c.3390T>G (p.Phe1130Leu)
c.90T>G (p.Phe30Leu)
n.2963T>G
c.8412T>G (p.Phe2804Leu)
c.8403T>G (p.Phe2801Leu)
c.8394T>G (p.Phe2798Leu)
c.8280T>G (p.Phe2760Leu)
c.8115T>G (p.Phe2705Leu)
c.6264T>G (p.Phe2088Leu)
c.3954T>G (p.Phe1318Leu)
n.8653T>G
18g.23928715G>ACA402064096LAMA3c.3559G>A (p.Gly1187Arg)
c.8386G>A (p.Gly2796Arg)
c.4981G>A (p.Gly1661Arg)
c.8218G>A (p.Gly2740Arg)
c.3164G>A
c.3391G>A (p.Gly1131Arg)
c.91G>A (p.Gly31Arg)
n.2964G>A
c.8413G>A (p.Gly2805Arg)
c.8404G>A (p.Gly2802Arg)
c.8395G>A (p.Gly2799Arg)
c.8281G>A (p.Gly2761Arg)
c.8116G>A (p.Gly2706Arg)
c.6265G>A (p.Gly2089Arg)
c.3955G>A (p.Gly1319Arg)
n.8654G>A
 dbSNP
18g.23928715G>CCA402064097LAMA3c.3559G>C (p.Gly1187Arg)
c.8386G>C (p.Gly2796Arg)
c.4981G>C (p.Gly1661Arg)
c.8218G>C (p.Gly2740Arg)
c.3164G>C
c.3391G>C (p.Gly1131Arg)
c.91G>C (p.Gly31Arg)
n.2964G>C
c.8413G>C (p.Gly2805Arg)
c.8404G>C (p.Gly2802Arg)
c.8395G>C (p.Gly2799Arg)
c.8281G>C (p.Gly2761Arg)
c.8116G>C (p.Gly2706Arg)
c.6265G>C (p.Gly2089Arg)
c.3955G>C (p.Gly1319Arg)
n.8654G>C
18g.23928715G=CA2290334843LAMA3c.3559G= (p.Gly1187=)
c.8386G= (p.Gly2796=)
c.4981G= (p.Gly1661=)
c.8218G= (p.Gly2740=)
c.3164G=
c.3391G= (p.Gly1131=)
c.91G= (p.Gly31=)
n.2964G=
c.8413G= (p.Gly2805=)
c.8404G= (p.Gly2802=)
c.8395G= (p.Gly2799=)
c.8281G= (p.Gly2761=)
c.8116G= (p.Gly2706=)
c.6265G= (p.Gly2089=)
c.3955G= (p.Gly1319=)
n.8654G=
18g.23928715G>TCA402064099LAMA3c.3559G>T (p.Gly1187Ter)
c.8386G>T (p.Gly2796Ter)
c.4981G>T (p.Gly1661Ter)
c.8218G>T (p.Gly2740Ter)
c.3164G>T
c.3391G>T (p.Gly1131Ter)
c.91G>T (p.Gly31Ter)
n.2964G>T
c.8413G>T (p.Gly2805Ter)
c.8404G>T (p.Gly2802Ter)
c.8395G>T (p.Gly2799Ter)
c.8281G>T (p.Gly2761Ter)
c.8116G>T (p.Gly2706Ter)
c.6265G>T (p.Gly2089Ter)
c.3955G>T (p.Gly1319Ter)
n.8654G>T
18g.23928716G>ACA402064103LAMA3c.3560G>A (p.Gly1187Glu)
c.8387G>A (p.Gly2796Glu)
c.4982G>A (p.Gly1661Glu)
c.8219G>A (p.Gly2740Glu)
c.3165G>A
c.3392G>A (p.Gly1131Glu)
c.92G>A (p.Gly31Glu)
n.2965G>A
c.8414G>A (p.Gly2805Glu)
c.8405G>A (p.Gly2802Glu)
c.8396G>A (p.Gly2799Glu)
c.8282G>A (p.Gly2761Glu)
c.8117G>A (p.Gly2706Glu)
c.6266G>A (p.Gly2089Glu)
c.3956G>A (p.Gly1319Glu)
n.8655G>A
18g.23928716G>CCA402064105LAMA3c.3560G>C (p.Gly1187Ala)
c.8387G>C (p.Gly2796Ala)
c.4982G>C (p.Gly1661Ala)
c.8219G>C (p.Gly2740Ala)
c.3165G>C
c.3392G>C (p.Gly1131Ala)
c.92G>C (p.Gly31Ala)
n.2965G>C
c.8414G>C (p.Gly2805Ala)
c.8405G>C (p.Gly2802Ala)
c.8396G>C (p.Gly2799Ala)
c.8282G>C (p.Gly2761Ala)
c.8117G>C (p.Gly2706Ala)
c.6266G>C (p.Gly2089Ala)
c.3956G>C (p.Gly1319Ala)
n.8655G>C
18g.23928716G>TCA402064101LAMA3c.3560G>T (p.Gly1187Val)
c.8387G>T (p.Gly2796Val)
c.4982G>T (p.Gly1661Val)
c.8219G>T (p.Gly2740Val)
c.3165G>T
c.3392G>T (p.Gly1131Val)
c.92G>T (p.Gly31Val)
n.2965G>T
c.8414G>T (p.Gly2805Val)
c.8405G>T (p.Gly2802Val)
c.8396G>T (p.Gly2799Val)
c.8282G>T (p.Gly2761Val)
c.8117G>T (p.Gly2706Val)
c.6266G>T (p.Gly2089Val)
c.3956G>T (p.Gly1319Val)
n.8655G>T
18g.23928717A>CCA503340810LAMA3c.3561A>C (p.Gly1187=)
c.8388A>C (p.Gly2796=)
c.4983A>C (p.Gly1661=)
c.8220A>C (p.Gly2740=)
c.3166A>C
c.3393A>C (p.Gly1131=)
c.93A>C (p.Gly31=)
n.2966A>C
c.8415A>C (p.Gly2805=)
c.8406A>C (p.Gly2802=)
c.8397A>C (p.Gly2799=)
c.8283A>C (p.Gly2761=)
c.8118A>C (p.Gly2706=)
c.6267A>C (p.Gly2089=)
c.3957A>C (p.Gly1319=)
n.8656A>C
18g.23928717A>GCA503340811LAMA3c.3561A>G (p.Gly1187=)
c.8388A>G (p.Gly2796=)
c.4983A>G (p.Gly1661=)
c.8220A>G (p.Gly2740=)
c.3166A>G
c.3393A>G (p.Gly1131=)
c.93A>G (p.Gly31=)
n.2966A>G
c.8415A>G (p.Gly2805=)
c.8406A>G (p.Gly2802=)
c.8397A>G (p.Gly2799=)
c.8283A>G (p.Gly2761=)
c.8118A>G (p.Gly2706=)
c.6267A>G (p.Gly2089=)
c.3957A>G (p.Gly1319=)
n.8656A>G
18g.23928717A>TCA503340812LAMA3c.3561A>T (p.Gly1187=)
c.8388A>T (p.Gly2796=)
c.4983A>T (p.Gly1661=)
c.8220A>T (p.Gly2740=)
c.3166A>T
c.3393A>T (p.Gly1131=)
c.93A>T (p.Gly31=)
n.2966A>T
c.8415A>T (p.Gly2805=)
c.8406A>T (p.Gly2802=)
c.8397A>T (p.Gly2799=)
c.8283A>T (p.Gly2761=)
c.8118A>T (p.Gly2706=)
c.6267A>T (p.Gly2089=)
c.3957A>T (p.Gly1319=)
n.8656A>T
18g.23928718T>ACA402064107LAMA3c.3562T>A (p.Phe1188Ile)
c.8389T>A (p.Phe2797Ile)
c.4984T>A (p.Phe1662Ile)
c.8221T>A (p.Phe2741Ile)
c.3167T>A
c.3394T>A (p.Phe1132Ile)
c.94T>A (p.Phe32Ile)
n.2967T>A
c.8416T>A (p.Phe2806Ile)
c.8407T>A (p.Phe2803Ile)
c.8398T>A (p.Phe2800Ile)
c.8284T>A (p.Phe2762Ile)
c.8119T>A (p.Phe2707Ile)
c.6268T>A (p.Phe2090Ile)
c.3958T>A (p.Phe1320Ile)
n.8657T>A
18g.23928718T>CCA402064109LAMA3c.3562T>C (p.Phe1188Leu)
c.8389T>C (p.Phe2797Leu)
c.4984T>C (p.Phe1662Leu)
c.8221T>C (p.Phe2741Leu)
c.3167T>C
c.3394T>C (p.Phe1132Leu)
c.94T>C (p.Phe32Leu)
n.2967T>C
c.8416T>C (p.Phe2806Leu)
c.8407T>C (p.Phe2803Leu)
c.8398T>C (p.Phe2800Leu)
c.8284T>C (p.Phe2762Leu)
c.8119T>C (p.Phe2707Leu)
c.6268T>C (p.Phe2090Leu)
c.3958T>C (p.Phe1320Leu)
n.8657T>C
18g.23928718T>GCA402064111LAMA3c.3562T>G (p.Phe1188Val)
c.8389T>G (p.Phe2797Val)
c.4984T>G (p.Phe1662Val)
c.8221T>G (p.Phe2741Val)
c.3167T>G
c.3394T>G (p.Phe1132Val)
c.94T>G (p.Phe32Val)
n.2967T>G
c.8416T>G (p.Phe2806Val)
c.8407T>G (p.Phe2803Val)
c.8398T>G (p.Phe2800Val)
c.8284T>G (p.Phe2762Val)
c.8119T>G (p.Phe2707Val)
c.6268T>G (p.Phe2090Val)
c.3958T>G (p.Phe1320Val)
n.8657T>G
18g.23928719T>ACA402064112LAMA3c.3563T>A (p.Phe1188Tyr)
c.8390T>A (p.Phe2797Tyr)
c.4985T>A (p.Phe1662Tyr)
c.8222T>A (p.Phe2741Tyr)
c.3168T>A
c.3395T>A (p.Phe1132Tyr)
c.95T>A (p.Phe32Tyr)
n.2968T>A
c.8417T>A (p.Phe2806Tyr)
c.8408T>A (p.Phe2803Tyr)
c.8399T>A (p.Phe2800Tyr)
c.8285T>A (p.Phe2762Tyr)
c.8120T>A (p.Phe2707Tyr)
c.6269T>A (p.Phe2090Tyr)
c.3959T>A (p.Phe1320Tyr)
n.8658T>A
 gnomAD v4
18g.23928719T>CCA402064114LAMA3c.3563T>C (p.Phe1188Ser)
c.8390T>C (p.Phe2797Ser)
c.4985T>C (p.Phe1662Ser)
c.8222T>C (p.Phe2741Ser)
c.3168T>C
c.3395T>C (p.Phe1132Ser)
c.95T>C (p.Phe32Ser)
n.2968T>C
c.8417T>C (p.Phe2806Ser)
c.8408T>C (p.Phe2803Ser)
c.8399T>C (p.Phe2800Ser)
c.8285T>C (p.Phe2762Ser)
c.8120T>C (p.Phe2707Ser)
c.6269T>C (p.Phe2090Ser)
c.3959T>C (p.Phe1320Ser)
n.8658T>C
18g.23928719T>GCA402064116LAMA3c.3563T>G (p.Phe1188Cys)
c.8390T>G (p.Phe2797Cys)
c.4985T>G (p.Phe1662Cys)
c.8222T>G (p.Phe2741Cys)
c.3168T>G
c.3395T>G (p.Phe1132Cys)
c.95T>G (p.Phe32Cys)
n.2968T>G
c.8417T>G (p.Phe2806Cys)
c.8408T>G (p.Phe2803Cys)
c.8399T>G (p.Phe2800Cys)
c.8285T>G (p.Phe2762Cys)
c.8120T>G (p.Phe2707Cys)
c.6269T>G (p.Phe2090Cys)
c.3959T>G (p.Phe1320Cys)
n.8658T>G
18g.23928720T>ACA402064120LAMA3c.3564T>A (p.Phe1188Leu)
c.8391T>A (p.Phe2797Leu)
c.4986T>A (p.Phe1662Leu)
c.8223T>A (p.Phe2741Leu)
c.3169T>A
c.3396T>A (p.Phe1132Leu)
c.96T>A (p.Phe32Leu)
n.2969T>A
c.8418T>A (p.Phe2806Leu)
c.8409T>A (p.Phe2803Leu)
c.8400T>A (p.Phe2800Leu)
c.8286T>A (p.Phe2762Leu)
c.8121T>A (p.Phe2707Leu)
c.6270T>A (p.Phe2090Leu)
c.3960T>A (p.Phe1320Leu)
n.8659T>A
18g.23928720T>CCA503340813LAMA3c.3564T>C (p.Phe1188=)
c.8391T>C (p.Phe2797=)
c.4986T>C (p.Phe1662=)
c.8223T>C (p.Phe2741=)
c.3169T>C
c.3396T>C (p.Phe1132=)
c.96T>C (p.Phe32=)
n.2969T>C
c.8418T>C (p.Phe2806=)
c.8409T>C (p.Phe2803=)
c.8400T>C (p.Phe2800=)
c.8286T>C (p.Phe2762=)
c.8121T>C (p.Phe2707=)
c.6270T>C (p.Phe2090=)
c.3960T>C (p.Phe1320=)
n.8659T>C
18g.23928720T>GCA402064118LAMA3c.3564T>G (p.Phe1188Leu)
c.8391T>G (p.Phe2797Leu)
c.4986T>G (p.Phe1662Leu)
c.8223T>G (p.Phe2741Leu)
c.3169T>G
c.3396T>G (p.Phe1132Leu)
c.96T>G (p.Phe32Leu)
n.2969T>G
c.8418T>G (p.Phe2806Leu)
c.8409T>G (p.Phe2803Leu)
c.8400T>G (p.Phe2800Leu)
c.8286T>G (p.Phe2762Leu)
c.8121T>G (p.Phe2707Leu)
c.6270T>G (p.Phe2090Leu)
c.3960T>G (p.Phe1320Leu)
n.8659T>G
18g.23928721C>ACA402064122LAMA3c.3565C>A (p.Gln1189Lys)
c.8392C>A (p.Gln2798Lys)
c.4987C>A (p.Gln1663Lys)
c.8224C>A (p.Gln2742Lys)
c.3170C>A
c.3397C>A (p.Gln1133Lys)
c.97C>A (p.Gln33Lys)
n.2970C>A
c.8419C>A (p.Gln2807Lys)
c.8410C>A (p.Gln2804Lys)
c.8401C>A (p.Gln2801Lys)
c.8287C>A (p.Gln2763Lys)
c.8122C>A (p.Gln2708Lys)
c.6271C>A (p.Gln2091Lys)
c.3961C>A (p.Gln1321Lys)
n.8660C>A
18g.23928721C>GCA402064124LAMA3c.3565C>G (p.Gln1189Glu)
c.8392C>G (p.Gln2798Glu)
c.4987C>G (p.Gln1663Glu)
c.8224C>G (p.Gln2742Glu)
c.3170C>G
c.3397C>G (p.Gln1133Glu)
c.97C>G (p.Gln33Glu)
n.2970C>G
c.8419C>G (p.Gln2807Glu)
c.8410C>G (p.Gln2804Glu)
c.8401C>G (p.Gln2801Glu)
c.8287C>G (p.Gln2763Glu)
c.8122C>G (p.Gln2708Glu)
c.6271C>G (p.Gln2091Glu)
c.3961C>G (p.Gln1321Glu)
n.8660C>G
18g.23928721C>TCA402064125LAMA3c.3565C>T (p.Gln1189Ter)
c.8392C>T (p.Gln2798Ter)
c.4987C>T (p.Gln1663Ter)
c.8224C>T (p.Gln2742Ter)
c.3170C>T
c.3397C>T (p.Gln1133Ter)
c.97C>T (p.Gln33Ter)
n.2970C>T
c.8419C>T (p.Gln2807Ter)
c.8410C>T (p.Gln2804Ter)
c.8401C>T (p.Gln2801Ter)
c.8287C>T (p.Gln2763Ter)
c.8122C>T (p.Gln2708Ter)
c.6271C>T (p.Gln2091Ter)
c.3961C>T (p.Gln1321Ter)
n.8660C>T
18g.23928722A>CCA402064127LAMA3c.3566A>C (p.Gln1189Pro)
c.8393A>C (p.Gln2798Pro)
c.4988A>C (p.Gln1663Pro)
c.8225A>C (p.Gln2742Pro)
c.3171A>C
c.3398A>C (p.Gln1133Pro)
c.98A>C (p.Gln33Pro)
n.2971A>C
c.8420A>C (p.Gln2807Pro)
c.8411A>C (p.Gln2804Pro)
c.8402A>C (p.Gln2801Pro)
c.8288A>C (p.Gln2763Pro)
c.8123A>C (p.Gln2708Pro)
c.6272A>C (p.Gln2091Pro)
c.3962A>C (p.Gln1321Pro)
n.8661A>C
18g.23928722A>GCA402064128LAMA3c.3566A>G (p.Gln1189Arg)
c.8393A>G (p.Gln2798Arg)
c.4988A>G (p.Gln1663Arg)
c.8225A>G (p.Gln2742Arg)
c.3171A>G
c.3398A>G (p.Gln1133Arg)
c.98A>G (p.Gln33Arg)
n.2971A>G
c.8420A>G (p.Gln2807Arg)
c.8411A>G (p.Gln2804Arg)
c.8402A>G (p.Gln2801Arg)
c.8288A>G (p.Gln2763Arg)
c.8123A>G (p.Gln2708Arg)
c.6272A>G (p.Gln2091Arg)
c.3962A>G (p.Gln1321Arg)
n.8661A>G
18g.23928722A>TCA402064130LAMA3c.3566A>T (p.Gln1189Leu)
c.8393A>T (p.Gln2798Leu)
c.4988A>T (p.Gln1663Leu)
c.8225A>T (p.Gln2742Leu)
c.3171A>T
c.3398A>T (p.Gln1133Leu)
c.98A>T (p.Gln33Leu)
n.2971A>T
c.8420A>T (p.Gln2807Leu)
c.8411A>T (p.Gln2804Leu)
c.8402A>T (p.Gln2801Leu)
c.8288A>T (p.Gln2763Leu)
c.8123A>T (p.Gln2708Leu)
c.6272A>T (p.Gln2091Leu)
c.3962A>T (p.Gln1321Leu)
n.8661A>T
18g.23928723G>ACA8916905LAMA3c.3567G>A (p.Gln1189=)
c.8394G>A (p.Gln2798=)
c.4989G>A (p.Gln1663=)
c.8226G>A (p.Gln2742=)
c.3172G>A
c.3399G>A (p.Gln1133=)
c.99G>A (p.Gln33=)
n.2972G>A
c.8421G>A (p.Gln2807=)
c.8412G>A (p.Gln2804=)
c.8403G>A (p.Gln2801=)
c.8289G>A (p.Gln2763=)
c.8124G>A (p.Gln2708=)
c.6273G>A (p.Gln2091=)
c.3963G>A (p.Gln1321=)
n.8662G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928723G>CCA402064134LAMA3c.3567G>C (p.Gln1189His)
c.8394G>C (p.Gln2798His)
c.4989G>C (p.Gln1663His)
c.8226G>C (p.Gln2742His)
c.3172G>C
c.3399G>C (p.Gln1133His)
c.99G>C (p.Gln33His)
n.2972G>C
c.8421G>C (p.Gln2807His)
c.8412G>C (p.Gln2804His)
c.8403G>C (p.Gln2801His)
c.8289G>C (p.Gln2763His)
c.8124G>C (p.Gln2708His)
c.6273G>C (p.Gln2091His)
c.3963G>C (p.Gln1321His)
n.8662G>C
18g.23928723G=CA2290334844LAMA3c.3567G= (p.Gln1189=)
c.8394G= (p.Gln2798=)
c.4989G= (p.Gln1663=)
c.8226G= (p.Gln2742=)
c.3172G=
c.3399G= (p.Gln1133=)
c.99G= (p.Gln33=)
n.2972G=
c.8421G= (p.Gln2807=)
c.8412G= (p.Gln2804=)
c.8403G= (p.Gln2801=)
c.8289G= (p.Gln2763=)
c.8124G= (p.Gln2708=)
c.6273G= (p.Gln2091=)
c.3963G= (p.Gln1321=)
n.8662G=
18g.23928723G>TCA402064132LAMA3c.3567G>T (p.Gln1189His)
c.8394G>T (p.Gln2798His)
c.4989G>T (p.Gln1663His)
c.8226G>T (p.Gln2742His)
c.3172G>T
c.3399G>T (p.Gln1133His)
c.99G>T (p.Gln33His)
n.2972G>T
c.8421G>T (p.Gln2807His)
c.8412G>T (p.Gln2804His)
c.8403G>T (p.Gln2801His)
c.8289G>T (p.Gln2763His)
c.8124G>T (p.Gln2708His)
c.6273G>T (p.Gln2091His)
c.3963G>T (p.Gln1321His)
n.8662G>T
18g.23928724A=CA2290334845LAMA3c.3568A= (p.Thr1190=)
c.8395A= (p.Thr2799=)
c.4990A= (p.Thr1664=)
c.8227A= (p.Thr2743=)
c.3173A=
c.3400A= (p.Thr1134=)
c.100A= (p.Thr34=)
n.2973A=
c.8422A= (p.Thr2808=)
c.8413A= (p.Thr2805=)
c.8404A= (p.Thr2802=)
c.8290A= (p.Thr2764=)
c.8125A= (p.Thr2709=)
c.6274A= (p.Thr2092=)
c.3964A= (p.Thr1322=)
n.8663A=
18g.23928724A>CCA402064135LAMA3c.3568A>C (p.Thr1190Pro)
c.8395A>C (p.Thr2799Pro)
c.4990A>C (p.Thr1664Pro)
c.8227A>C (p.Thr2743Pro)
c.3173A>C
c.3400A>C (p.Thr1134Pro)
c.100A>C (p.Thr34Pro)
n.2973A>C
c.8422A>C (p.Thr2808Pro)
c.8413A>C (p.Thr2805Pro)
c.8404A>C (p.Thr2802Pro)
c.8290A>C (p.Thr2764Pro)
c.8125A>C (p.Thr2709Pro)
c.6274A>C (p.Thr2092Pro)
c.3964A>C (p.Thr1322Pro)
n.8663A>C
18g.23928724A>GCA402064137LAMA3c.3568A>G (p.Thr1190Ala)
c.8395A>G (p.Thr2799Ala)
c.4990A>G (p.Thr1664Ala)
c.8227A>G (p.Thr2743Ala)
c.3173A>G
c.3400A>G (p.Thr1134Ala)
c.100A>G (p.Thr34Ala)
n.2973A>G
c.8422A>G (p.Thr2808Ala)
c.8413A>G (p.Thr2805Ala)
c.8404A>G (p.Thr2802Ala)
c.8290A>G (p.Thr2764Ala)
c.8125A>G (p.Thr2709Ala)
c.6274A>G (p.Thr2092Ala)
c.3964A>G (p.Thr1322Ala)
n.8663A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23928724A>TCA402064138LAMA3c.3568A>T (p.Thr1190Ser)
c.8395A>T (p.Thr2799Ser)
c.4990A>T (p.Thr1664Ser)
c.8227A>T (p.Thr2743Ser)
c.3173A>T
c.3400A>T (p.Thr1134Ser)
c.100A>T (p.Thr34Ser)
n.2973A>T
c.8422A>T (p.Thr2808Ser)
c.8413A>T (p.Thr2805Ser)
c.8404A>T (p.Thr2802Ser)
c.8290A>T (p.Thr2764Ser)
c.8125A>T (p.Thr2709Ser)
c.6274A>T (p.Thr2092Ser)
c.3964A>T (p.Thr1322Ser)
n.8663A>T
18g.23928725C>ACA402064141LAMA3c.3569C>A (p.Thr1190Asn)
c.8396C>A (p.Thr2799Asn)
c.4991C>A (p.Thr1664Asn)
c.8228C>A (p.Thr2743Asn)
c.3174C>A
c.3401C>A (p.Thr1134Asn)
c.101C>A (p.Thr34Asn)
n.2974C>A
c.8423C>A (p.Thr2808Asn)
c.8414C>A (p.Thr2805Asn)
c.8405C>A (p.Thr2802Asn)
c.8291C>A (p.Thr2764Asn)
c.8126C>A (p.Thr2709Asn)
c.6275C>A (p.Thr2092Asn)
c.3965C>A (p.Thr1322Asn)
n.8664C>A
18g.23928725C>GCA402064143LAMA3c.3569C>G (p.Thr1190Ser)
c.8396C>G (p.Thr2799Ser)
c.4991C>G (p.Thr1664Ser)
c.8228C>G (p.Thr2743Ser)
c.3174C>G
c.3401C>G (p.Thr1134Ser)
c.101C>G (p.Thr34Ser)
n.2974C>G
c.8423C>G (p.Thr2808Ser)
c.8414C>G (p.Thr2805Ser)
c.8405C>G (p.Thr2802Ser)
c.8291C>G (p.Thr2764Ser)
c.8126C>G (p.Thr2709Ser)
c.6275C>G (p.Thr2092Ser)
c.3965C>G (p.Thr1322Ser)
n.8664C>G
18g.23928725C>TCA402064144LAMA3c.3569C>T (p.Thr1190Ile)
c.8396C>T (p.Thr2799Ile)
c.4991C>T (p.Thr1664Ile)
c.8228C>T (p.Thr2743Ile)
c.3174C>T
c.3401C>T (p.Thr1134Ile)
c.101C>T (p.Thr34Ile)
n.2974C>T
c.8423C>T (p.Thr2808Ile)
c.8414C>T (p.Thr2805Ile)
c.8405C>T (p.Thr2802Ile)
c.8291C>T (p.Thr2764Ile)
c.8126C>T (p.Thr2709Ile)
c.6275C>T (p.Thr2092Ile)
c.3965C>T (p.Thr1322Ile)
n.8664C>T
18g.23928726C>ACA503340814LAMA3c.3570C>A (p.Thr1190=)
c.8397C>A (p.Thr2799=)
c.4992C>A (p.Thr1664=)
c.8229C>A (p.Thr2743=)
c.3175C>A
c.3402C>A (p.Thr1134=)
c.102C>A (p.Thr34=)
n.2975C>A
c.8424C>A (p.Thr2808=)
c.8415C>A (p.Thr2805=)
c.8406C>A (p.Thr2802=)
c.8292C>A (p.Thr2764=)
c.8127C>A (p.Thr2709=)
c.6276C>A (p.Thr2092=)
c.3966C>A (p.Thr1322=)
n.8665C>A
18g.23928726C>GCA503340815LAMA3c.3570C>G (p.Thr1190=)
c.8397C>G (p.Thr2799=)
c.4992C>G (p.Thr1664=)
c.8229C>G (p.Thr2743=)
c.3175C>G
c.3402C>G (p.Thr1134=)
c.102C>G (p.Thr34=)
n.2975C>G
c.8424C>G (p.Thr2808=)
c.8415C>G (p.Thr2805=)
c.8406C>G (p.Thr2802=)
c.8292C>G (p.Thr2764=)
c.8127C>G (p.Thr2709=)
c.6276C>G (p.Thr2092=)
c.3966C>G (p.Thr1322=)
n.8665C>G
18g.23928726C>TCA503340816LAMA3c.3570C>T (p.Thr1190=)
c.8397C>T (p.Thr2799=)
c.4992C>T (p.Thr1664=)
c.8229C>T (p.Thr2743=)
c.3175C>T
c.3402C>T (p.Thr1134=)
c.102C>T (p.Thr34=)
n.2975C>T
c.8424C>T (p.Thr2808=)
c.8415C>T (p.Thr2805=)
c.8406C>T (p.Thr2802=)
c.8292C>T (p.Thr2764=)
c.8127C>T (p.Thr2709=)
c.6276C>T (p.Thr2092=)
c.3966C>T (p.Thr1322=)
n.8665C>T
18g.23928727T>ACA402064147LAMA3c.3571T>A (p.Phe1191Ile)
c.8398T>A (p.Phe2800Ile)
c.4993T>A (p.Phe1665Ile)
c.8230T>A (p.Phe2744Ile)
c.3176T>A
c.3403T>A (p.Phe1135Ile)
c.103T>A (p.Phe35Ile)
n.2976T>A
c.8425T>A (p.Phe2809Ile)
c.8416T>A (p.Phe2806Ile)
c.8407T>A (p.Phe2803Ile)
c.8293T>A (p.Phe2765Ile)
c.8128T>A (p.Phe2710Ile)
c.6277T>A (p.Phe2093Ile)
c.3967T>A (p.Phe1323Ile)
n.8666T>A
18g.23928727T>CCA402064149LAMA3c.3571T>C (p.Phe1191Leu)
c.8398T>C (p.Phe2800Leu)
c.4993T>C (p.Phe1665Leu)
c.8230T>C (p.Phe2744Leu)
c.3176T>C
c.3403T>C (p.Phe1135Leu)
c.103T>C (p.Phe35Leu)
n.2976T>C
c.8425T>C (p.Phe2809Leu)
c.8416T>C (p.Phe2806Leu)
c.8407T>C (p.Phe2803Leu)
c.8293T>C (p.Phe2765Leu)
c.8128T>C (p.Phe2710Leu)
c.6277T>C (p.Phe2093Leu)
c.3967T>C (p.Phe1323Leu)
n.8666T>C
18g.23928727T>GCA402064150LAMA3c.3571T>G (p.Phe1191Val)
c.8398T>G (p.Phe2800Val)
c.4993T>G (p.Phe1665Val)
c.8230T>G (p.Phe2744Val)
c.3176T>G
c.3403T>G (p.Phe1135Val)
c.103T>G (p.Phe35Val)
n.2976T>G
c.8425T>G (p.Phe2809Val)
c.8416T>G (p.Phe2806Val)
c.8407T>G (p.Phe2803Val)
c.8293T>G (p.Phe2765Val)
c.8128T>G (p.Phe2710Val)
c.6277T>G (p.Phe2093Val)
c.3967T>G (p.Phe1323Val)
n.8666T>G
18g.23928728T>ACA402064152LAMA3c.3572T>A (p.Phe1191Tyr)
c.8399T>A (p.Phe2800Tyr)
c.4994T>A (p.Phe1665Tyr)
c.8231T>A (p.Phe2744Tyr)
c.3177T>A
c.3404T>A (p.Phe1135Tyr)
c.104T>A (p.Phe35Tyr)
n.2977T>A
c.8426T>A (p.Phe2809Tyr)
c.8417T>A (p.Phe2806Tyr)
c.8408T>A (p.Phe2803Tyr)
c.8294T>A (p.Phe2765Tyr)
c.8129T>A (p.Phe2710Tyr)
c.6278T>A (p.Phe2093Tyr)
c.3968T>A (p.Phe1323Tyr)
n.8667T>A
18g.23928728T>CCA402064153LAMA3c.3572T>C (p.Phe1191Ser)
c.8399T>C (p.Phe2800Ser)
c.4994T>C (p.Phe1665Ser)
c.8231T>C (p.Phe2744Ser)
c.3177T>C
c.3404T>C (p.Phe1135Ser)
c.104T>C (p.Phe35Ser)
n.2977T>C
c.8426T>C (p.Phe2809Ser)
c.8417T>C (p.Phe2806Ser)
c.8408T>C (p.Phe2803Ser)
c.8294T>C (p.Phe2765Ser)
c.8129T>C (p.Phe2710Ser)
c.6278T>C (p.Phe2093Ser)
c.3968T>C (p.Phe1323Ser)
n.8667T>C
18g.23928728T>GCA402064154LAMA3c.3572T>G (p.Phe1191Cys)
c.8399T>G (p.Phe2800Cys)
c.4994T>G (p.Phe1665Cys)
c.8231T>G (p.Phe2744Cys)
c.3177T>G
c.3404T>G (p.Phe1135Cys)
c.104T>G (p.Phe35Cys)
n.2977T>G
c.8426T>G (p.Phe2809Cys)
c.8417T>G (p.Phe2806Cys)
c.8408T>G (p.Phe2803Cys)
c.8294T>G (p.Phe2765Cys)
c.8129T>G (p.Phe2710Cys)
c.6278T>G (p.Phe2093Cys)
c.3968T>G (p.Phe1323Cys)
n.8667T>G
18g.23928729T>ACA402064156LAMA3c.3573T>A (p.Phe1191Leu)
c.8400T>A (p.Phe2800Leu)
c.4995T>A (p.Phe1665Leu)
c.8232T>A (p.Phe2744Leu)
c.3178T>A
c.3405T>A (p.Phe1135Leu)
c.105T>A (p.Phe35Leu)
n.2978T>A
c.8427T>A (p.Phe2809Leu)
c.8418T>A (p.Phe2806Leu)
c.8409T>A (p.Phe2803Leu)
c.8295T>A (p.Phe2765Leu)
c.8130T>A (p.Phe2710Leu)
c.6279T>A (p.Phe2093Leu)
c.3969T>A (p.Phe1323Leu)
n.8668T>A
18g.23928729T>CCA503340817LAMA3c.3573T>C (p.Phe1191=)
c.8400T>C (p.Phe2800=)
c.4995T>C (p.Phe1665=)
c.8232T>C (p.Phe2744=)
c.3178T>C
c.3405T>C (p.Phe1135=)
c.105T>C (p.Phe35=)
n.2978T>C
c.8427T>C (p.Phe2809=)
c.8418T>C (p.Phe2806=)
c.8409T>C (p.Phe2803=)
c.8295T>C (p.Phe2765=)
c.8130T>C (p.Phe2710=)
c.6279T>C (p.Phe2093=)
c.3969T>C (p.Phe1323=)
n.8668T>C
18g.23928729T>GCA402064158LAMA3c.3573T>G (p.Phe1191Leu)
c.8400T>G (p.Phe2800Leu)
c.4995T>G (p.Phe1665Leu)
c.8232T>G (p.Phe2744Leu)
c.3178T>G
c.3405T>G (p.Phe1135Leu)
c.105T>G (p.Phe35Leu)
n.2978T>G
c.8427T>G (p.Phe2809Leu)
c.8418T>G (p.Phe2806Leu)
c.8409T>G (p.Phe2803Leu)
c.8295T>G (p.Phe2765Leu)
c.8130T>G (p.Phe2710Leu)
c.6279T>G (p.Phe2093Leu)
c.3969T>G (p.Phe1323Leu)
n.8668T>G
18g.23928730C>ACA8916906LAMA3c.3574C>A (p.Gln1192Lys)
c.8401C>A (p.Gln2801Lys)
c.4996C>A (p.Gln1666Lys)
c.8233C>A (p.Gln2745Lys)
c.3179C>A
c.3406C>A (p.Gln1136Lys)
c.106C>A (p.Gln36Lys)
n.2979C>A
c.8428C>A (p.Gln2810Lys)
c.8419C>A (p.Gln2807Lys)
c.8410C>A (p.Gln2804Lys)
c.8296C>A (p.Gln2766Lys)
c.8131C>A (p.Gln2711Lys)
c.6280C>A (p.Gln2094Lys)
c.3970C>A (p.Gln1324Lys)
n.8669C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928730C=CA2290334846LAMA3c.3574C= (p.Gln1192=)
c.8401C= (p.Gln2801=)
c.4996C= (p.Gln1666=)
c.8233C= (p.Gln2745=)
c.3179C=
c.3406C= (p.Gln1136=)
c.106C= (p.Gln36=)
n.2979C=
c.8428C= (p.Gln2810=)
c.8419C= (p.Gln2807=)
c.8410C= (p.Gln2804=)
c.8296C= (p.Gln2766=)
c.8131C= (p.Gln2711=)
c.6280C= (p.Gln2094=)
c.3970C= (p.Gln1324=)
n.8669C=
18g.23928730C>GCA402064163LAMA3c.3574C>G (p.Gln1192Glu)
c.8401C>G (p.Gln2801Glu)
c.4996C>G (p.Gln1666Glu)
c.8233C>G (p.Gln2745Glu)
c.3179C>G
c.3406C>G (p.Gln1136Glu)
c.106C>G (p.Gln36Glu)
n.2979C>G
c.8428C>G (p.Gln2810Glu)
c.8419C>G (p.Gln2807Glu)
c.8410C>G (p.Gln2804Glu)
c.8296C>G (p.Gln2766Glu)
c.8131C>G (p.Gln2711Glu)
c.6280C>G (p.Gln2094Glu)
c.3970C>G (p.Gln1324Glu)
n.8669C>G
18g.23928730C>TCA402064161LAMA3c.3574C>T (p.Gln1192Ter)
c.8401C>T (p.Gln2801Ter)
c.4996C>T (p.Gln1666Ter)
c.8233C>T (p.Gln2745Ter)
c.3179C>T
c.3406C>T (p.Gln1136Ter)
c.106C>T (p.Gln36Ter)
n.2979C>T
c.8428C>T (p.Gln2810Ter)
c.8419C>T (p.Gln2807Ter)
c.8410C>T (p.Gln2804Ter)
c.8296C>T (p.Gln2766Ter)
c.8131C>T (p.Gln2711Ter)
c.6280C>T (p.Gln2094Ter)
c.3970C>T (p.Gln1324Ter)
n.8669C>T
18g.23928731A>CCA402064165LAMA3c.3575A>C (p.Gln1192Pro)
c.8402A>C (p.Gln2801Pro)
c.4997A>C (p.Gln1666Pro)
c.8234A>C (p.Gln2745Pro)
c.3180A>C
c.3407A>C (p.Gln1136Pro)
c.107A>C (p.Gln36Pro)
n.2980A>C
c.8429A>C (p.Gln2810Pro)
c.8420A>C (p.Gln2807Pro)
c.8411A>C (p.Gln2804Pro)
c.8297A>C (p.Gln2766Pro)
c.8132A>C (p.Gln2711Pro)
c.6281A>C (p.Gln2094Pro)
c.3971A>C (p.Gln1324Pro)
n.8670A>C
18g.23928731A>GCA402064167LAMA3c.3575A>G (p.Gln1192Arg)
c.8402A>G (p.Gln2801Arg)
c.4997A>G (p.Gln1666Arg)
c.8234A>G (p.Gln2745Arg)
c.3180A>G
c.3407A>G (p.Gln1136Arg)
c.107A>G (p.Gln36Arg)
n.2980A>G
c.8429A>G (p.Gln2810Arg)
c.8420A>G (p.Gln2807Arg)
c.8411A>G (p.Gln2804Arg)
c.8297A>G (p.Gln2766Arg)
c.8132A>G (p.Gln2711Arg)
c.6281A>G (p.Gln2094Arg)
c.3971A>G (p.Gln1324Arg)
n.8670A>G
18g.23928731A>TCA402064168LAMA3c.3575A>T (p.Gln1192Leu)
c.8402A>T (p.Gln2801Leu)
c.4997A>T (p.Gln1666Leu)
c.8234A>T (p.Gln2745Leu)
c.3180A>T
c.3407A>T (p.Gln1136Leu)
c.107A>T (p.Gln36Leu)
n.2980A>T
c.8429A>T (p.Gln2810Leu)
c.8420A>T (p.Gln2807Leu)
c.8411A>T (p.Gln2804Leu)
c.8297A>T (p.Gln2766Leu)
c.8132A>T (p.Gln2711Leu)
c.6281A>T (p.Gln2094Leu)
c.3971A>T (p.Gln1324Leu)
n.8670A>T
18g.23928732A>CCA402064169LAMA3c.3576A>C (p.Gln1192His)
c.8403A>C (p.Gln2801His)
c.4998A>C (p.Gln1666His)
c.8235A>C (p.Gln2745His)
c.3181A>C
c.3408A>C (p.Gln1136His)
c.108A>C (p.Gln36His)
n.2981A>C
c.8430A>C (p.Gln2810His)
c.8421A>C (p.Gln2807His)
c.8412A>C (p.Gln2804His)
c.8298A>C (p.Gln2766His)
c.8133A>C (p.Gln2711His)
c.6282A>C (p.Gln2094His)
c.3972A>C (p.Gln1324His)
n.8671A>C
18g.23928732A>GCA503340818LAMA3c.3576A>G (p.Gln1192=)
c.8403A>G (p.Gln2801=)
c.4998A>G (p.Gln1666=)
c.8235A>G (p.Gln2745=)
c.3181A>G
c.3408A>G (p.Gln1136=)
c.108A>G (p.Gln36=)
n.2981A>G
c.8430A>G (p.Gln2810=)
c.8421A>G (p.Gln2807=)
c.8412A>G (p.Gln2804=)
c.8298A>G (p.Gln2766=)
c.8133A>G (p.Gln2711=)
c.6282A>G (p.Gln2094=)
c.3972A>G (p.Gln1324=)
n.8671A>G
 ClinVar
18g.23928732A>TCA402064171LAMA3c.3576A>T (p.Gln1192His)
c.8403A>T (p.Gln2801His)
c.4998A>T (p.Gln1666His)
c.8235A>T (p.Gln2745His)
c.3181A>T
c.3408A>T (p.Gln1136His)
c.108A>T (p.Gln36His)
n.2981A>T
c.8430A>T (p.Gln2810His)
c.8421A>T (p.Gln2807His)
c.8412A>T (p.Gln2804His)
c.8298A>T (p.Gln2766His)
c.8133A>T (p.Gln2711His)
c.6282A>T (p.Gln2094His)
c.3972A>T (p.Gln1324His)
n.8671A>T
18g.23928733C>ACA402064173LAMA3c.3577C>A (p.Pro1193Thr)
c.8404C>A (p.Pro2802Thr)
c.4999C>A (p.Pro1667Thr)
c.8236C>A (p.Pro2746Thr)
c.3182C>A
c.3409C>A (p.Pro1137Thr)
c.109C>A (p.Pro37Thr)
n.2982C>A
c.8431C>A (p.Pro2811Thr)
c.8422C>A (p.Pro2808Thr)
c.8413C>A (p.Pro2805Thr)
c.8299C>A (p.Pro2767Thr)
c.8134C>A (p.Pro2712Thr)
c.6283C>A (p.Pro2095Thr)
c.3973C>A (p.Pro1325Thr)
n.8672C>A
18g.23928733C>GCA402064175LAMA3c.3577C>G (p.Pro1193Ala)
c.8404C>G (p.Pro2802Ala)
c.4999C>G (p.Pro1667Ala)
c.8236C>G (p.Pro2746Ala)
c.3182C>G
c.3409C>G (p.Pro1137Ala)
c.109C>G (p.Pro37Ala)
n.2982C>G
c.8431C>G (p.Pro2811Ala)
c.8422C>G (p.Pro2808Ala)
c.8413C>G (p.Pro2805Ala)
c.8299C>G (p.Pro2767Ala)
c.8134C>G (p.Pro2712Ala)
c.6283C>G (p.Pro2095Ala)
c.3973C>G (p.Pro1325Ala)
n.8672C>G
18g.23928733C>TCA402064177LAMA3c.3577C>T (p.Pro1193Ser)
c.8404C>T (p.Pro2802Ser)
c.4999C>T (p.Pro1667Ser)
c.8236C>T (p.Pro2746Ser)
c.3182C>T
c.3409C>T (p.Pro1137Ser)
c.109C>T (p.Pro37Ser)
n.2982C>T
c.8431C>T (p.Pro2811Ser)
c.8422C>T (p.Pro2808Ser)
c.8413C>T (p.Pro2805Ser)
c.8299C>T (p.Pro2767Ser)
c.8134C>T (p.Pro2712Ser)
c.6283C>T (p.Pro2095Ser)
c.3973C>T (p.Pro1325Ser)
n.8672C>T
18g.23928734C>ACA402064179LAMA3c.3578C>A (p.Pro1193His)
c.8405C>A (p.Pro2802His)
c.5000C>A (p.Pro1667His)
c.8237C>A (p.Pro2746His)
c.3183C>A
c.3410C>A (p.Pro1137His)
c.110C>A (p.Pro37His)
n.2983C>A
c.8432C>A (p.Pro2811His)
c.8423C>A (p.Pro2808His)
c.8414C>A (p.Pro2805His)
c.8300C>A (p.Pro2767His)
c.8135C>A (p.Pro2712His)
c.6284C>A (p.Pro2095His)
c.3974C>A (p.Pro1325His)
n.8673C>A
 gnomAD v4 COSMIC COSMIC
18g.23928734C>GCA402064180LAMA3c.3578C>G (p.Pro1193Arg)
c.8405C>G (p.Pro2802Arg)
c.5000C>G (p.Pro1667Arg)
c.8237C>G (p.Pro2746Arg)
c.3183C>G
c.3410C>G (p.Pro1137Arg)
c.110C>G (p.Pro37Arg)
n.2983C>G
c.8432C>G (p.Pro2811Arg)
c.8423C>G (p.Pro2808Arg)
c.8414C>G (p.Pro2805Arg)
c.8300C>G (p.Pro2767Arg)
c.8135C>G (p.Pro2712Arg)
c.6284C>G (p.Pro2095Arg)
c.3974C>G (p.Pro1325Arg)
n.8673C>G
18g.23928734C>TCA402064183LAMA3c.3578C>T (p.Pro1193Leu)
c.8405C>T (p.Pro2802Leu)
c.5000C>T (p.Pro1667Leu)
c.8237C>T (p.Pro2746Leu)
c.3183C>T
c.3410C>T (p.Pro1137Leu)
c.110C>T (p.Pro37Leu)
n.2983C>T
c.8432C>T (p.Pro2811Leu)
c.8423C>T (p.Pro2808Leu)
c.8414C>T (p.Pro2805Leu)
c.8300C>T (p.Pro2767Leu)
c.8135C>T (p.Pro2712Leu)
c.6284C>T (p.Pro2095Leu)
c.3974C>T (p.Pro1325Leu)
n.8673C>T
18g.23928735C>ACA503340819LAMA3c.3579C>A (p.Pro1193=)
c.8406C>A (p.Pro2802=)
c.5001C>A (p.Pro1667=)
c.8238C>A (p.Pro2746=)
c.3184C>A
c.3411C>A (p.Pro1137=)
c.111C>A (p.Pro37=)
n.2984C>A
c.8433C>A (p.Pro2811=)
c.8424C>A (p.Pro2808=)
c.8415C>A (p.Pro2805=)
c.8301C>A (p.Pro2767=)
c.8136C>A (p.Pro2712=)
c.6285C>A (p.Pro2095=)
c.3975C>A (p.Pro1325=)
n.8674C>A
18g.23928735C>GCA503340820LAMA3c.3579C>G (p.Pro1193=)
c.8406C>G (p.Pro2802=)
c.5001C>G (p.Pro1667=)
c.8238C>G (p.Pro2746=)
c.3184C>G
c.3411C>G (p.Pro1137=)
c.111C>G (p.Pro37=)
n.2984C>G
c.8433C>G (p.Pro2811=)
c.8424C>G (p.Pro2808=)
c.8415C>G (p.Pro2805=)
c.8301C>G (p.Pro2767=)
c.8136C>G (p.Pro2712=)
c.6285C>G (p.Pro2095=)
c.3975C>G (p.Pro1325=)
n.8674C>G
18g.23928735C>TCA503340821LAMA3c.3579C>T (p.Pro1193=)
c.8406C>T (p.Pro2802=)
c.5001C>T (p.Pro1667=)
c.8238C>T (p.Pro2746=)
c.3184C>T
c.3411C>T (p.Pro1137=)
c.111C>T (p.Pro37=)
n.2984C>T
c.8433C>T (p.Pro2811=)
c.8424C>T (p.Pro2808=)
c.8415C>T (p.Pro2805=)
c.8301C>T (p.Pro2767=)
c.8136C>T (p.Pro2712=)
c.6285C>T (p.Pro2095=)
c.3975C>T (p.Pro1325=)
n.8674C>T
 gnomAD v4
18g.23928736A=CA2290334847LAMA3c.3580A= (p.Ser1194=)
c.8407A= (p.Ser2803=)
c.5002A= (p.Ser1668=)
c.8239A= (p.Ser2747=)
c.3185A=
c.3412A= (p.Ser1138=)
c.112A= (p.Ser38=)
n.2985A=
c.8434A= (p.Ser2812=)
c.8425A= (p.Ser2809=)
c.8416A= (p.Ser2806=)
c.8302A= (p.Ser2768=)
c.8137A= (p.Ser2713=)
c.6286A= (p.Ser2096=)
c.3976A= (p.Ser1326=)
n.8675A=
18g.23928736A>CCA8916907LAMA3c.3580A>C (p.Ser1194Arg)
c.8407A>C (p.Ser2803Arg)
c.5002A>C (p.Ser1668Arg)
c.8239A>C (p.Ser2747Arg)
c.3185A>C
c.3412A>C (p.Ser1138Arg)
c.112A>C (p.Ser38Arg)
n.2985A>C
c.8434A>C (p.Ser2812Arg)
c.8425A>C (p.Ser2809Arg)
c.8416A>C (p.Ser2806Arg)
c.8302A>C (p.Ser2768Arg)
c.8137A>C (p.Ser2713Arg)
c.6286A>C (p.Ser2096Arg)
c.3976A>C (p.Ser1326Arg)
n.8675A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928736A>GCA8916908LAMA3c.3580A>G (p.Ser1194Gly)
c.8407A>G (p.Ser2803Gly)
c.5002A>G (p.Ser1668Gly)
c.8239A>G (p.Ser2747Gly)
c.3185A>G
c.3412A>G (p.Ser1138Gly)
c.112A>G (p.Ser38Gly)
n.2985A>G
c.8434A>G (p.Ser2812Gly)
c.8425A>G (p.Ser2809Gly)
c.8416A>G (p.Ser2806Gly)
c.8302A>G (p.Ser2768Gly)
c.8137A>G (p.Ser2713Gly)
c.6286A>G (p.Ser2096Gly)
c.3976A>G (p.Ser1326Gly)
n.8675A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928736A>TCA402064186LAMA3c.3580A>T (p.Ser1194Cys)
c.8407A>T (p.Ser2803Cys)
c.5002A>T (p.Ser1668Cys)
c.8239A>T (p.Ser2747Cys)
c.3185A>T
c.3412A>T (p.Ser1138Cys)
c.112A>T (p.Ser38Cys)
n.2985A>T
c.8434A>T (p.Ser2812Cys)
c.8425A>T (p.Ser2809Cys)
c.8416A>T (p.Ser2806Cys)
c.8302A>T (p.Ser2768Cys)
c.8137A>T (p.Ser2713Cys)
c.6286A>T (p.Ser2096Cys)
c.3976A>T (p.Ser1326Cys)
n.8675A>T
18g.23928737G>ACA297122898LAMA3c.3581G>A (p.Ser1194Asn)
c.8408G>A (p.Ser2803Asn)
c.5003G>A (p.Ser1668Asn)
c.8240G>A (p.Ser2747Asn)
c.3186G>A
c.3413G>A (p.Ser1138Asn)
c.113G>A (p.Ser38Asn)
n.2986G>A
c.8435G>A (p.Ser2812Asn)
c.8426G>A (p.Ser2809Asn)
c.8417G>A (p.Ser2806Asn)
c.8303G>A (p.Ser2768Asn)
c.8138G>A (p.Ser2713Asn)
c.6287G>A (p.Ser2096Asn)
c.3977G>A (p.Ser1326Asn)
n.8676G>A
 dbSNP gnomAD v4
18g.23928737G>CCA402064190LAMA3c.3581G>C (p.Ser1194Thr)
c.8408G>C (p.Ser2803Thr)
c.5003G>C (p.Ser1668Thr)
c.8240G>C (p.Ser2747Thr)
c.3186G>C
c.3413G>C (p.Ser1138Thr)
c.113G>C (p.Ser38Thr)
n.2986G>C
c.8435G>C (p.Ser2812Thr)
c.8426G>C (p.Ser2809Thr)
c.8417G>C (p.Ser2806Thr)
c.8303G>C (p.Ser2768Thr)
c.8138G>C (p.Ser2713Thr)
c.6287G>C (p.Ser2096Thr)
c.3977G>C (p.Ser1326Thr)
n.8676G>C
18g.23928737G=CA2290334848LAMA3c.3581G= (p.Ser1194=)
c.8408G= (p.Ser2803=)
c.5003G= (p.Ser1668=)
c.8240G= (p.Ser2747=)
c.3186G=
c.3413G= (p.Ser1138=)
c.113G= (p.Ser38=)
n.2986G=
c.8435G= (p.Ser2812=)
c.8426G= (p.Ser2809=)
c.8417G= (p.Ser2806=)
c.8303G= (p.Ser2768=)
c.8138G= (p.Ser2713=)
c.6287G= (p.Ser2096=)
c.3977G= (p.Ser1326=)
n.8676G=
18g.23928737G>TCA402064192LAMA3c.3581G>T (p.Ser1194Ile)
c.8408G>T (p.Ser2803Ile)
c.5003G>T (p.Ser1668Ile)
c.8240G>T (p.Ser2747Ile)
c.3186G>T
c.3413G>T (p.Ser1138Ile)
c.113G>T (p.Ser38Ile)
n.2986G>T
c.8435G>T (p.Ser2812Ile)
c.8426G>T (p.Ser2809Ile)
c.8417G>T (p.Ser2806Ile)
c.8303G>T (p.Ser2768Ile)
c.8138G>T (p.Ser2713Ile)
c.6287G>T (p.Ser2096Ile)
c.3977G>T (p.Ser1326Ile)
n.8676G>T
18g.23928738T>ACA402064194LAMA3c.3582T>A (p.Ser1194Arg)
c.8409T>A (p.Ser2803Arg)
c.5004T>A (p.Ser1668Arg)
c.8241T>A (p.Ser2747Arg)
c.3187T>A
c.3414T>A (p.Ser1138Arg)
c.114T>A (p.Ser38Arg)
n.2987T>A
c.8436T>A (p.Ser2812Arg)
c.8427T>A (p.Ser2809Arg)
c.8418T>A (p.Ser2806Arg)
c.8304T>A (p.Ser2768Arg)
c.8139T>A (p.Ser2713Arg)
c.6288T>A (p.Ser2096Arg)
c.3978T>A (p.Ser1326Arg)
n.8677T>A
18g.23928738T>CCA503340822LAMA3c.3582T>C (p.Ser1194=)
c.8409T>C (p.Ser2803=)
c.5004T>C (p.Ser1668=)
c.8241T>C (p.Ser2747=)
c.3187T>C
c.3414T>C (p.Ser1138=)
c.114T>C (p.Ser38=)
n.2987T>C
c.8436T>C (p.Ser2812=)
c.8427T>C (p.Ser2809=)
c.8418T>C (p.Ser2806=)
c.8304T>C (p.Ser2768=)
c.8139T>C (p.Ser2713=)
c.6288T>C (p.Ser2096=)
c.3978T>C (p.Ser1326=)
n.8677T>C
 ClinVar gnomAD v4
18g.23928738T>GCA402064196LAMA3c.3582T>G (p.Ser1194Arg)
c.8409T>G (p.Ser2803Arg)
c.5004T>G (p.Ser1668Arg)
c.8241T>G (p.Ser2747Arg)
c.3187T>G
c.3414T>G (p.Ser1138Arg)
c.114T>G (p.Ser38Arg)
n.2987T>G
c.8436T>G (p.Ser2812Arg)
c.8427T>G (p.Ser2809Arg)
c.8418T>G (p.Ser2806Arg)
c.8304T>G (p.Ser2768Arg)
c.8139T>G (p.Ser2713Arg)
c.6288T>G (p.Ser2096Arg)
c.3978T>G (p.Ser1326Arg)
n.8677T>G
18g.23928739G>ACA8916909LAMA3c.3583G>A (p.Gly1195Ser)
c.8410G>A (p.Gly2804Ser)
c.5005G>A (p.Gly1669Ser)
c.8242G>A (p.Gly2748Ser)
c.3188G>A
c.3415G>A (p.Gly1139Ser)
c.115G>A (p.Gly39Ser)
n.2988G>A
c.8437G>A (p.Gly2813Ser)
c.8428G>A (p.Gly2810Ser)
c.8419G>A (p.Gly2807Ser)
c.8305G>A (p.Gly2769Ser)
c.8140G>A (p.Gly2714Ser)
c.6289G>A (p.Gly2097Ser)
c.3979G>A (p.Gly1327Ser)
n.8678G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928739G>CCA402064199LAMA3c.3583G>C (p.Gly1195Arg)
c.8410G>C (p.Gly2804Arg)
c.5005G>C (p.Gly1669Arg)
c.8242G>C (p.Gly2748Arg)
c.3188G>C
c.3415G>C (p.Gly1139Arg)
c.115G>C (p.Gly39Arg)
n.2988G>C
c.8437G>C (p.Gly2813Arg)
c.8428G>C (p.Gly2810Arg)
c.8419G>C (p.Gly2807Arg)
c.8305G>C (p.Gly2769Arg)
c.8140G>C (p.Gly2714Arg)
c.6289G>C (p.Gly2097Arg)
c.3979G>C (p.Gly1327Arg)
n.8678G>C
18g.23928739G=CA2290334849LAMA3c.3583G= (p.Gly1195=)
c.8410G= (p.Gly2804=)
c.5005G= (p.Gly1669=)
c.8242G= (p.Gly2748=)
c.3188G=
c.3415G= (p.Gly1139=)
c.115G= (p.Gly39=)
n.2988G=
c.8437G= (p.Gly2813=)
c.8428G= (p.Gly2810=)
c.8419G= (p.Gly2807=)
c.8305G= (p.Gly2769=)
c.8140G= (p.Gly2714=)
c.6289G= (p.Gly2097=)
c.3979G= (p.Gly1327=)
n.8678G=
18g.23928739G>TCA402064201LAMA3c.3583G>T (p.Gly1195Cys)
c.8410G>T (p.Gly2804Cys)
c.5005G>T (p.Gly1669Cys)
c.8242G>T (p.Gly2748Cys)
c.3188G>T
c.3415G>T (p.Gly1139Cys)
c.115G>T (p.Gly39Cys)
n.2988G>T
c.8437G>T (p.Gly2813Cys)
c.8428G>T (p.Gly2810Cys)
c.8419G>T (p.Gly2807Cys)
c.8305G>T (p.Gly2769Cys)
c.8140G>T (p.Gly2714Cys)
c.6289G>T (p.Gly2097Cys)
c.3979G>T (p.Gly1327Cys)
n.8678G>T
18g.23928740G>ACA402064203LAMA3c.3584G>A (p.Gly1195Asp)
c.8411G>A (p.Gly2804Asp)
c.5006G>A (p.Gly1669Asp)
c.8243G>A (p.Gly2748Asp)
c.3189G>A
c.3416G>A (p.Gly1139Asp)
c.116G>A (p.Gly39Asp)
n.2989G>A
c.8438G>A (p.Gly2813Asp)
c.8429G>A (p.Gly2810Asp)
c.8420G>A (p.Gly2807Asp)
c.8306G>A (p.Gly2769Asp)
c.8141G>A (p.Gly2714Asp)
c.6290G>A (p.Gly2097Asp)
c.3980G>A (p.Gly1327Asp)
n.8679G>A
18g.23928740G>CCA402064205LAMA3c.3584G>C (p.Gly1195Ala)
c.8411G>C (p.Gly2804Ala)
c.5006G>C (p.Gly1669Ala)
c.8243G>C (p.Gly2748Ala)
c.3189G>C
c.3416G>C (p.Gly1139Ala)
c.116G>C (p.Gly39Ala)
n.2989G>C
c.8438G>C (p.Gly2813Ala)
c.8429G>C (p.Gly2810Ala)
c.8420G>C (p.Gly2807Ala)
c.8306G>C (p.Gly2769Ala)
c.8141G>C (p.Gly2714Ala)
c.6290G>C (p.Gly2097Ala)
c.3980G>C (p.Gly1327Ala)
n.8679G>C
18g.23928740G>TCA402064207LAMA3c.3584G>T (p.Gly1195Val)
c.8411G>T (p.Gly2804Val)
c.5006G>T (p.Gly1669Val)
c.8243G>T (p.Gly2748Val)
c.3189G>T
c.3416G>T (p.Gly1139Val)
c.116G>T (p.Gly39Val)
n.2989G>T
c.8438G>T (p.Gly2813Val)
c.8429G>T (p.Gly2810Val)
c.8420G>T (p.Gly2807Val)
c.8306G>T (p.Gly2769Val)
c.8141G>T (p.Gly2714Val)
c.6290G>T (p.Gly2097Val)
c.3980G>T (p.Gly1327Val)
n.8679G>T
18g.23928741C>ACA503340823LAMA3c.3585C>A (p.Gly1195=)
c.8412C>A (p.Gly2804=)
c.5007C>A (p.Gly1669=)
c.8244C>A (p.Gly2748=)
c.3190C>A
c.3417C>A (p.Gly1139=)
c.117C>A (p.Gly39=)
n.2990C>A
c.8439C>A (p.Gly2813=)
c.8430C>A (p.Gly2810=)
c.8421C>A (p.Gly2807=)
c.8307C>A (p.Gly2769=)
c.8142C>A (p.Gly2714=)
c.6291C>A (p.Gly2097=)
c.3981C>A (p.Gly1327=)
n.8680C>A
18g.23928741C>GCA503340824LAMA3c.3585C>G (p.Gly1195=)
c.8412C>G (p.Gly2804=)
c.5007C>G (p.Gly1669=)
c.8244C>G (p.Gly2748=)
c.3190C>G
c.3417C>G (p.Gly1139=)
c.117C>G (p.Gly39=)
n.2990C>G
c.8439C>G (p.Gly2813=)
c.8430C>G (p.Gly2810=)
c.8421C>G (p.Gly2807=)
c.8307C>G (p.Gly2769=)
c.8142C>G (p.Gly2714=)
c.6291C>G (p.Gly2097=)
c.3981C>G (p.Gly1327=)
n.8680C>G
18g.23928741C>TCA503340825LAMA3c.3585C>T (p.Gly1195=)
c.8412C>T (p.Gly2804=)
c.5007C>T (p.Gly1669=)
c.8244C>T (p.Gly2748=)
c.3190C>T
c.3417C>T (p.Gly1139=)
c.117C>T (p.Gly39=)
n.2990C>T
c.8439C>T (p.Gly2813=)
c.8430C>T (p.Gly2810=)
c.8421C>T (p.Gly2807=)
c.8307C>T (p.Gly2769=)
c.8142C>T (p.Gly2714=)
c.6291C>T (p.Gly2097=)
c.3981C>T (p.Gly1327=)
n.8680C>T
 gnomAD v4
18g.23928742A>CCA402064209LAMA3c.3586A>C (p.Ile1196Leu)
c.8413A>C (p.Ile2805Leu)
c.5008A>C (p.Ile1670Leu)
c.8245A>C (p.Ile2749Leu)
c.3191A>C
c.3418A>C (p.Ile1140Leu)
c.118A>C (p.Ile40Leu)
n.2991A>C
c.8440A>C (p.Ile2814Leu)
c.8431A>C (p.Ile2811Leu)
c.8422A>C (p.Ile2808Leu)
c.8308A>C (p.Ile2770Leu)
c.8143A>C (p.Ile2715Leu)
c.6292A>C (p.Ile2098Leu)
c.3982A>C (p.Ile1328Leu)
n.8681A>C
18g.23928742A>GCA402064212LAMA3c.3586A>G (p.Ile1196Val)
c.8413A>G (p.Ile2805Val)
c.5008A>G (p.Ile1670Val)
c.8245A>G (p.Ile2749Val)
c.3191A>G
c.3418A>G (p.Ile1140Val)
c.118A>G (p.Ile40Val)
n.2991A>G
c.8440A>G (p.Ile2814Val)
c.8431A>G (p.Ile2811Val)
c.8422A>G (p.Ile2808Val)
c.8308A>G (p.Ile2770Val)
c.8143A>G (p.Ile2715Val)
c.6292A>G (p.Ile2098Val)
c.3982A>G (p.Ile1328Val)
n.8681A>G
 gnomAD v4
18g.23928742A>TCA402064208LAMA3c.3586A>T (p.Ile1196Leu)
c.8413A>T (p.Ile2805Leu)
c.5008A>T (p.Ile1670Leu)
c.8245A>T (p.Ile2749Leu)
c.3191A>T
c.3418A>T (p.Ile1140Leu)
c.118A>T (p.Ile40Leu)
n.2991A>T
c.8440A>T (p.Ile2814Leu)
c.8431A>T (p.Ile2811Leu)
c.8422A>T (p.Ile2808Leu)
c.8308A>T (p.Ile2770Leu)
c.8143A>T (p.Ile2715Leu)
c.6292A>T (p.Ile2098Leu)
c.3982A>T (p.Ile1328Leu)
n.8681A>T
18g.23928743T>ACA402064213LAMA3c.3587T>A (p.Ile1196Lys)
c.8414T>A (p.Ile2805Lys)
c.5009T>A (p.Ile1670Lys)
c.8246T>A (p.Ile2749Lys)
c.3192T>A
c.3419T>A (p.Ile1140Lys)
c.119T>A (p.Ile40Lys)
n.2992T>A
c.8441T>A (p.Ile2814Lys)
c.8432T>A (p.Ile2811Lys)
c.8423T>A (p.Ile2808Lys)
c.8309T>A (p.Ile2770Lys)
c.8144T>A (p.Ile2715Lys)
c.6293T>A (p.Ile2098Lys)
c.3983T>A (p.Ile1328Lys)
n.8682T>A
18g.23928743T>CCA402064214LAMA3c.3587T>C (p.Ile1196Thr)
c.8414T>C (p.Ile2805Thr)
c.5009T>C (p.Ile1670Thr)
c.8246T>C (p.Ile2749Thr)
c.3192T>C
c.3419T>C (p.Ile1140Thr)
c.119T>C (p.Ile40Thr)
n.2992T>C
c.8441T>C (p.Ile2814Thr)
c.8432T>C (p.Ile2811Thr)
c.8423T>C (p.Ile2808Thr)
c.8309T>C (p.Ile2770Thr)
c.8144T>C (p.Ile2715Thr)
c.6293T>C (p.Ile2098Thr)
c.3983T>C (p.Ile1328Thr)
n.8682T>C
18g.23928743T>GCA402064216LAMA3c.3587T>G (p.Ile1196Arg)
c.8414T>G (p.Ile2805Arg)
c.5009T>G (p.Ile1670Arg)
c.8246T>G (p.Ile2749Arg)
c.3192T>G
c.3419T>G (p.Ile1140Arg)
c.119T>G (p.Ile40Arg)
n.2992T>G
c.8441T>G (p.Ile2814Arg)
c.8432T>G (p.Ile2811Arg)
c.8423T>G (p.Ile2808Arg)
c.8309T>G (p.Ile2770Arg)
c.8144T>G (p.Ile2715Arg)
c.6293T>G (p.Ile2098Arg)
c.3983T>G (p.Ile1328Arg)
n.8682T>G
18g.23928744A>CCA503340826LAMA3c.3588A>C (p.Ile1196=)
c.8415A>C (p.Ile2805=)
c.5010A>C (p.Ile1670=)
c.8247A>C (p.Ile2749=)
c.3193A>C
c.3420A>C (p.Ile1140=)
c.120A>C (p.Ile40=)
n.2993A>C
c.8442A>C (p.Ile2814=)
c.8433A>C (p.Ile2811=)
c.8424A>C (p.Ile2808=)
c.8310A>C (p.Ile2770=)
c.8145A>C (p.Ile2715=)
c.6294A>C (p.Ile2098=)
c.3984A>C (p.Ile1328=)
n.8683A>C
18g.23928744A>GCA402064217LAMA3c.3588A>G (p.Ile1196Met)
c.8415A>G (p.Ile2805Met)
c.5010A>G (p.Ile1670Met)
c.8247A>G (p.Ile2749Met)
c.3193A>G
c.3420A>G (p.Ile1140Met)
c.120A>G (p.Ile40Met)
n.2993A>G
c.8442A>G (p.Ile2814Met)
c.8433A>G (p.Ile2811Met)
c.8424A>G (p.Ile2808Met)
c.8310A>G (p.Ile2770Met)
c.8145A>G (p.Ile2715Met)
c.6294A>G (p.Ile2098Met)
c.3984A>G (p.Ile1328Met)
n.8683A>G
 gnomAD v4
18g.23928744A>TCA503340827LAMA3c.3588A>T (p.Ile1196=)
c.8415A>T (p.Ile2805=)
c.5010A>T (p.Ile1670=)
c.8247A>T (p.Ile2749=)
c.3193A>T
c.3420A>T (p.Ile1140=)
c.120A>T (p.Ile40=)
n.2993A>T
c.8442A>T (p.Ile2814=)
c.8433A>T (p.Ile2811=)
c.8424A>T (p.Ile2808=)
c.8310A>T (p.Ile2770=)
c.8145A>T (p.Ile2715=)
c.6294A>T (p.Ile2098=)
c.3984A>T (p.Ile1328=)
n.8683A>T
18g.23928745T>ACA402064219LAMA3c.3589T>A (p.Leu1197Ile)
c.8416T>A (p.Leu2806Ile)
c.5011T>A (p.Leu1671Ile)
c.8248T>A (p.Leu2750Ile)
c.3194T>A
c.3421T>A (p.Leu1141Ile)
c.121T>A (p.Leu41Ile)
n.2994T>A
c.8443T>A (p.Leu2815Ile)
c.8434T>A (p.Leu2812Ile)
c.8425T>A (p.Leu2809Ile)
c.8311T>A (p.Leu2771Ile)
c.8146T>A (p.Leu2716Ile)
c.6295T>A (p.Leu2099Ile)
c.3985T>A (p.Leu1329Ile)
n.8684T>A
18g.23928745T>CCA503340828LAMA3c.3589T>C (p.Leu1197=)
c.8416T>C (p.Leu2806=)
c.5011T>C (p.Leu1671=)
c.8248T>C (p.Leu2750=)
c.3194T>C
c.3421T>C (p.Leu1141=)
c.121T>C (p.Leu41=)
n.2994T>C
c.8443T>C (p.Leu2815=)
c.8434T>C (p.Leu2812=)
c.8425T>C (p.Leu2809=)
c.8311T>C (p.Leu2771=)
c.8146T>C (p.Leu2716=)
c.6295T>C (p.Leu2099=)
c.3985T>C (p.Leu1329=)
n.8684T>C
18g.23928745T>GCA402064221LAMA3c.3589T>G (p.Leu1197Val)
c.8416T>G (p.Leu2806Val)
c.5011T>G (p.Leu1671Val)
c.8248T>G (p.Leu2750Val)
c.3194T>G
c.3421T>G (p.Leu1141Val)
c.121T>G (p.Leu41Val)
n.2994T>G
c.8443T>G (p.Leu2815Val)
c.8434T>G (p.Leu2812Val)
c.8425T>G (p.Leu2809Val)
c.8311T>G (p.Leu2771Val)
c.8146T>G (p.Leu2716Val)
c.6295T>G (p.Leu2099Val)
c.3985T>G (p.Leu1329Val)
n.8684T>G
18g.23928746T>ACA402064223LAMA3c.3590T>A (p.Leu1197Ter)
c.8417T>A (p.Leu2806Ter)
c.5012T>A (p.Leu1671Ter)
c.8249T>A (p.Leu2750Ter)
c.3195T>A
c.3422T>A (p.Leu1141Ter)
c.122T>A (p.Leu41Ter)
n.2995T>A
c.8444T>A (p.Leu2815Ter)
c.8435T>A (p.Leu2812Ter)
c.8426T>A (p.Leu2809Ter)
c.8312T>A (p.Leu2771Ter)
c.8147T>A (p.Leu2716Ter)
c.6296T>A (p.Leu2099Ter)
c.3986T>A (p.Leu1329Ter)
n.8685T>A
18g.23928746T>CCA402064225LAMA3c.3590T>C (p.Leu1197Ser)
c.8417T>C (p.Leu2806Ser)
c.5012T>C (p.Leu1671Ser)
c.8249T>C (p.Leu2750Ser)
c.3195T>C
c.3422T>C (p.Leu1141Ser)
c.122T>C (p.Leu41Ser)
n.2995T>C
c.8444T>C (p.Leu2815Ser)
c.8435T>C (p.Leu2812Ser)
c.8426T>C (p.Leu2809Ser)
c.8312T>C (p.Leu2771Ser)
c.8147T>C (p.Leu2716Ser)
c.6296T>C (p.Leu2099Ser)
c.3986T>C (p.Leu1329Ser)
n.8685T>C
18g.23928746T>GCA402064227LAMA3c.3590T>G (p.Leu1197Ter)
c.8417T>G (p.Leu2806Ter)
c.5012T>G (p.Leu1671Ter)
c.8249T>G (p.Leu2750Ter)
c.3195T>G
c.3422T>G (p.Leu1141Ter)
c.122T>G (p.Leu41Ter)
n.2995T>G
c.8444T>G (p.Leu2815Ter)
c.8435T>G (p.Leu2812Ter)
c.8426T>G (p.Leu2809Ter)
c.8312T>G (p.Leu2771Ter)
c.8147T>G (p.Leu2716Ter)
c.6296T>G (p.Leu2099Ter)
c.3986T>G (p.Leu1329Ter)
n.8685T>G
18g.23928747A>CCA402064228LAMA3c.3591A>C (p.Leu1197Phe)
c.8418A>C (p.Leu2806Phe)
c.5013A>C (p.Leu1671Phe)
c.8250A>C (p.Leu2750Phe)
c.3196A>C
c.3423A>C (p.Leu1141Phe)
c.123A>C (p.Leu41Phe)
n.2996A>C
c.8445A>C (p.Leu2815Phe)
c.8436A>C (p.Leu2812Phe)
c.8427A>C (p.Leu2809Phe)
c.8313A>C (p.Leu2771Phe)
c.8148A>C (p.Leu2716Phe)
c.6297A>C (p.Leu2099Phe)
c.3987A>C (p.Leu1329Phe)
n.8686A>C
18g.23928747A>GCA503340829LAMA3c.3591A>G (p.Leu1197=)
c.8418A>G (p.Leu2806=)
c.5013A>G (p.Leu1671=)
c.8250A>G (p.Leu2750=)
c.3196A>G
c.3423A>G (p.Leu1141=)
c.123A>G (p.Leu41=)
n.2996A>G
c.8445A>G (p.Leu2815=)
c.8436A>G (p.Leu2812=)
c.8427A>G (p.Leu2809=)
c.8313A>G (p.Leu2771=)
c.8148A>G (p.Leu2716=)
c.6297A>G (p.Leu2099=)
c.3987A>G (p.Leu1329=)
n.8686A>G
 ClinVar dbSNP
18g.23928747A>TCA402064229LAMA3c.3591A>T (p.Leu1197Phe)
c.8418A>T (p.Leu2806Phe)
c.5013A>T (p.Leu1671Phe)
c.8250A>T (p.Leu2750Phe)
c.3196A>T
c.3423A>T (p.Leu1141Phe)
c.123A>T (p.Leu41Phe)
n.2996A>T
c.8445A>T (p.Leu2815Phe)
c.8436A>T (p.Leu2812Phe)
c.8427A>T (p.Leu2809Phe)
c.8313A>T (p.Leu2771Phe)
c.8148A>T (p.Leu2716Phe)
c.6297A>T (p.Leu2099Phe)
c.3987A>T (p.Leu1329Phe)
n.8686A>T
18g.23928748T>ACA402064231LAMA3c.3592T>A (p.Leu1198Ile)
c.8419T>A (p.Leu2807Ile)
c.5014T>A (p.Leu1672Ile)
c.8251T>A (p.Leu2751Ile)
c.3197T>A
c.3424T>A (p.Leu1142Ile)
c.124T>A (p.Leu42Ile)
n.2997T>A
c.8446T>A (p.Leu2816Ile)
c.8437T>A (p.Leu2813Ile)
c.8428T>A (p.Leu2810Ile)
c.8314T>A (p.Leu2772Ile)
c.8149T>A (p.Leu2717Ile)
c.6298T>A (p.Leu2100Ile)
c.3988T>A (p.Leu1330Ile)
n.8687T>A
18g.23928748T>CCA503340830LAMA3c.3592T>C (p.Leu1198=)
c.8419T>C (p.Leu2807=)
c.5014T>C (p.Leu1672=)
c.8251T>C (p.Leu2751=)
c.3197T>C
c.3424T>C (p.Leu1142=)
c.124T>C (p.Leu42=)
n.2997T>C
c.8446T>C (p.Leu2816=)
c.8437T>C (p.Leu2813=)
c.8428T>C (p.Leu2810=)
c.8314T>C (p.Leu2772=)
c.8149T>C (p.Leu2717=)
c.6298T>C (p.Leu2100=)
c.3988T>C (p.Leu1330=)
n.8687T>C
 ClinVar dbSNP
18g.23928748T>GCA402064233LAMA3c.3592T>G (p.Leu1198Val)
c.8419T>G (p.Leu2807Val)
c.5014T>G (p.Leu1672Val)
c.8251T>G (p.Leu2751Val)
c.3197T>G
c.3424T>G (p.Leu1142Val)
c.124T>G (p.Leu42Val)
n.2997T>G
c.8446T>G (p.Leu2816Val)
c.8437T>G (p.Leu2813Val)
c.8428T>G (p.Leu2810Val)
c.8314T>G (p.Leu2772Val)
c.8149T>G (p.Leu2717Val)
c.6298T>G (p.Leu2100Val)
c.3988T>G (p.Leu1330Val)
n.8687T>G
18g.23928749T>ACA402064238LAMA3c.3593T>A (p.Leu1198Ter)
c.8420T>A (p.Leu2807Ter)
c.5015T>A (p.Leu1672Ter)
c.8252T>A (p.Leu2751Ter)
c.3198T>A
c.3425T>A (p.Leu1142Ter)
c.125T>A (p.Leu42Ter)
n.2998T>A
c.8447T>A (p.Leu2816Ter)
c.8438T>A (p.Leu2813Ter)
c.8429T>A (p.Leu2810Ter)
c.8315T>A (p.Leu2772Ter)
c.8150T>A (p.Leu2717Ter)
c.6299T>A (p.Leu2100Ter)
c.3989T>A (p.Leu1330Ter)
n.8688T>A
18g.23928749T>CCA402064237LAMA3c.3593T>C (p.Leu1198Ser)
c.8420T>C (p.Leu2807Ser)
c.5015T>C (p.Leu1672Ser)
c.8252T>C (p.Leu2751Ser)
c.3198T>C
c.3425T>C (p.Leu1142Ser)
c.125T>C (p.Leu42Ser)
n.2998T>C
c.8447T>C (p.Leu2816Ser)
c.8438T>C (p.Leu2813Ser)
c.8429T>C (p.Leu2810Ser)
c.8315T>C (p.Leu2772Ser)
c.8150T>C (p.Leu2717Ser)
c.6299T>C (p.Leu2100Ser)
c.3989T>C (p.Leu1330Ser)
n.8688T>C
18g.23928749T>GCA402064235LAMA3c.3593T>G (p.Leu1198Ter)
c.8420T>G (p.Leu2807Ter)
c.5015T>G (p.Leu1672Ter)
c.8252T>G (p.Leu2751Ter)
c.3198T>G
c.3425T>G (p.Leu1142Ter)
c.125T>G (p.Leu42Ter)
n.2998T>G
c.8447T>G (p.Leu2816Ter)
c.8438T>G (p.Leu2813Ter)
c.8429T>G (p.Leu2810Ter)
c.8315T>G (p.Leu2772Ter)
c.8150T>G (p.Leu2717Ter)
c.6299T>G (p.Leu2100Ter)
c.3989T>G (p.Leu1330Ter)
n.8688T>G
 ClinVar gnomAD v4
18g.23928750A>CCA402064240LAMA3c.3594A>C (p.Leu1198Phe)
c.8421A>C (p.Leu2807Phe)
c.5016A>C (p.Leu1672Phe)
c.8253A>C (p.Leu2751Phe)
c.3199A>C
c.3426A>C (p.Leu1142Phe)
c.126A>C (p.Leu42Phe)
n.2999A>C
c.8448A>C (p.Leu2816Phe)
c.8439A>C (p.Leu2813Phe)
c.8430A>C (p.Leu2810Phe)
c.8316A>C (p.Leu2772Phe)
c.8151A>C (p.Leu2717Phe)
c.6300A>C (p.Leu2100Phe)
c.3990A>C (p.Leu1330Phe)
n.8689A>C
18g.23928750A>GCA503340831LAMA3c.3594A>G (p.Leu1198=)
c.8421A>G (p.Leu2807=)
c.5016A>G (p.Leu1672=)
c.8253A>G (p.Leu2751=)
c.3199A>G
c.3426A>G (p.Leu1142=)
c.126A>G (p.Leu42=)
n.2999A>G
c.8448A>G (p.Leu2816=)
c.8439A>G (p.Leu2813=)
c.8430A>G (p.Leu2810=)
c.8316A>G (p.Leu2772=)
c.8151A>G (p.Leu2717=)
c.6300A>G (p.Leu2100=)
c.3990A>G (p.Leu1330=)
n.8689A>G
18g.23928750A>TCA402064242LAMA3c.3594A>T (p.Leu1198Phe)
c.8421A>T (p.Leu2807Phe)
c.5016A>T (p.Leu1672Phe)
c.8253A>T (p.Leu2751Phe)
c.3199A>T
c.3426A>T (p.Leu1142Phe)
c.126A>T (p.Leu42Phe)
n.2999A>T
c.8448A>T (p.Leu2816Phe)
c.8439A>T (p.Leu2813Phe)
c.8430A>T (p.Leu2810Phe)
c.8316A>T (p.Leu2772Phe)
c.8151A>T (p.Leu2717Phe)
c.6300A>T (p.Leu2100Phe)
c.3990A>T (p.Leu1330Phe)
n.8689A>T
18g.23928751G>ACA402064244LAMA3c.3595G>A (p.Asp1199Asn)
c.8422G>A (p.Asp2808Asn)
c.5017G>A (p.Asp1673Asn)
c.8254G>A (p.Asp2752Asn)
c.3200G>A
c.3427G>A (p.Asp1143Asn)
c.127G>A (p.Asp43Asn)
n.3000G>A
c.8449G>A (p.Asp2817Asn)
c.8440G>A (p.Asp2814Asn)
c.8431G>A (p.Asp2811Asn)
c.8317G>A (p.Asp2773Asn)
c.8152G>A (p.Asp2718Asn)
c.6301G>A (p.Asp2101Asn)
c.3991G>A (p.Asp1331Asn)
n.8690G>A
18g.23928751G>CCA402064246LAMA3c.3595G>C (p.Asp1199His)
c.8422G>C (p.Asp2808His)
c.5017G>C (p.Asp1673His)
c.8254G>C (p.Asp2752His)
c.3200G>C
c.3427G>C (p.Asp1143His)
c.127G>C (p.Asp43His)
n.3000G>C
c.8449G>C (p.Asp2817His)
c.8440G>C (p.Asp2814His)
c.8431G>C (p.Asp2811His)
c.8317G>C (p.Asp2773His)
c.8152G>C (p.Asp2718His)
c.6301G>C (p.Asp2101His)
c.3991G>C (p.Asp1331His)
n.8690G>C
18g.23928751G>TCA402064248LAMA3c.3595G>T (p.Asp1199Tyr)
c.8422G>T (p.Asp2808Tyr)
c.5017G>T (p.Asp1673Tyr)
c.8254G>T (p.Asp2752Tyr)
c.3200G>T
c.3427G>T (p.Asp1143Tyr)
c.127G>T (p.Asp43Tyr)
n.3000G>T
c.8449G>T (p.Asp2817Tyr)
c.8440G>T (p.Asp2814Tyr)
c.8431G>T (p.Asp2811Tyr)
c.8317G>T (p.Asp2773Tyr)
c.8152G>T (p.Asp2718Tyr)
c.6301G>T (p.Asp2101Tyr)
c.3991G>T (p.Asp1331Tyr)
n.8690G>T
18g.23928752A=CA2290334850LAMA3c.3596A= (p.Asp1199=)
c.8423A= (p.Asp2808=)
c.5018A= (p.Asp1673=)
c.8255A= (p.Asp2752=)
c.3201A=
c.3428A= (p.Asp1143=)
c.128A= (p.Asp43=)
n.3001A=
c.8450A= (p.Asp2817=)
c.8441A= (p.Asp2814=)
c.8432A= (p.Asp2811=)
c.8318A= (p.Asp2773=)
c.8153A= (p.Asp2718=)
c.6302A= (p.Asp2101=)
c.3992A= (p.Asp1331=)
n.8691A=
18g.23928752A>CCA402064250LAMA3c.3596A>C (p.Asp1199Ala)
c.8423A>C (p.Asp2808Ala)
c.5018A>C (p.Asp1673Ala)
c.8255A>C (p.Asp2752Ala)
c.3201A>C
c.3428A>C (p.Asp1143Ala)
c.128A>C (p.Asp43Ala)
n.3001A>C
c.8450A>C (p.Asp2817Ala)
c.8441A>C (p.Asp2814Ala)
c.8432A>C (p.Asp2811Ala)
c.8318A>C (p.Asp2773Ala)
c.8153A>C (p.Asp2718Ala)
c.6302A>C (p.Asp2101Ala)
c.3992A>C (p.Asp1331Ala)
n.8691A>C
18g.23928752A>GCA402064252LAMA3c.3596A>G (p.Asp1199Gly)
c.8423A>G (p.Asp2808Gly)
c.5018A>G (p.Asp1673Gly)
c.8255A>G (p.Asp2752Gly)
c.3201A>G
c.3428A>G (p.Asp1143Gly)
c.128A>G (p.Asp43Gly)
n.3001A>G
c.8450A>G (p.Asp2817Gly)
c.8441A>G (p.Asp2814Gly)
c.8432A>G (p.Asp2811Gly)
c.8318A>G (p.Asp2773Gly)
c.8153A>G (p.Asp2718Gly)
c.6302A>G (p.Asp2101Gly)
c.3992A>G (p.Asp1331Gly)
n.8691A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23928752A>TCA402064253LAMA3c.3596A>T (p.Asp1199Val)
c.8423A>T (p.Asp2808Val)
c.5018A>T (p.Asp1673Val)
c.8255A>T (p.Asp2752Val)
c.3201A>T
c.3428A>T (p.Asp1143Val)
c.128A>T (p.Asp43Val)
n.3001A>T
c.8450A>T (p.Asp2817Val)
c.8441A>T (p.Asp2814Val)
c.8432A>T (p.Asp2811Val)
c.8318A>T (p.Asp2773Val)
c.8153A>T (p.Asp2718Val)
c.6302A>T (p.Asp2101Val)
c.3992A>T (p.Asp1331Val)
n.8691A>T
18g.23928753T>ACA402064255LAMA3c.3597T>A (p.Asp1199Glu)
c.8424T>A (p.Asp2808Glu)
c.5019T>A (p.Asp1673Glu)
c.8256T>A (p.Asp2752Glu)
c.3202T>A
c.3429T>A (p.Asp1143Glu)
c.129T>A (p.Asp43Glu)
n.3002T>A
c.8451T>A (p.Asp2817Glu)
c.8442T>A (p.Asp2814Glu)
c.8433T>A (p.Asp2811Glu)
c.8319T>A (p.Asp2773Glu)
c.8154T>A (p.Asp2718Glu)
c.6303T>A (p.Asp2101Glu)
c.3993T>A (p.Asp1331Glu)
n.8692T>A
18g.23928753T>CCA503340832LAMA3c.3597T>C (p.Asp1199=)
c.8424T>C (p.Asp2808=)
c.5019T>C (p.Asp1673=)
c.8256T>C (p.Asp2752=)
c.3202T>C
c.3429T>C (p.Asp1143=)
c.129T>C (p.Asp43=)
n.3002T>C
c.8451T>C (p.Asp2817=)
c.8442T>C (p.Asp2814=)
c.8433T>C (p.Asp2811=)
c.8319T>C (p.Asp2773=)
c.8154T>C (p.Asp2718=)
c.6303T>C (p.Asp2101=)
c.3993T>C (p.Asp1331=)
n.8692T>C
 ClinVar dbSNP gnomAD v4
18g.23928753T>GCA402064256LAMA3c.3597T>G (p.Asp1199Glu)
c.8424T>G (p.Asp2808Glu)
c.5019T>G (p.Asp1673Glu)
c.8256T>G (p.Asp2752Glu)
c.3202T>G
c.3429T>G (p.Asp1143Glu)
c.129T>G (p.Asp43Glu)
n.3002T>G
c.8451T>G (p.Asp2817Glu)
c.8442T>G (p.Asp2814Glu)
c.8433T>G (p.Asp2811Glu)
c.8319T>G (p.Asp2773Glu)
c.8154T>G (p.Asp2718Glu)
c.6303T>G (p.Asp2101Glu)
c.3993T>G (p.Asp1331Glu)
n.8692T>G
18g.23928754C>ACA402064259LAMA3c.3598C>A (p.His1200Asn)
c.8425C>A (p.His2809Asn)
c.5020C>A (p.His1674Asn)
c.8257C>A (p.His2753Asn)
c.3203C>A
c.3430C>A (p.His1144Asn)
c.130C>A (p.His44Asn)
n.3003C>A
c.8452C>A (p.His2818Asn)
c.8443C>A (p.His2815Asn)
c.8434C>A (p.His2812Asn)
c.8320C>A (p.His2774Asn)
c.8155C>A (p.His2719Asn)
c.6304C>A (p.His2102Asn)
c.3994C>A (p.His1332Asn)
n.8693C>A
 gnomAD v4
18g.23928754C>GCA402064260LAMA3c.3598C>G (p.His1200Asp)
c.8425C>G (p.His2809Asp)
c.5020C>G (p.His1674Asp)
c.8257C>G (p.His2753Asp)
c.3203C>G
c.3430C>G (p.His1144Asp)
c.130C>G (p.His44Asp)
n.3003C>G
c.8452C>G (p.His2818Asp)
c.8443C>G (p.His2815Asp)
c.8434C>G (p.His2812Asp)
c.8320C>G (p.His2774Asp)
c.8155C>G (p.His2719Asp)
c.6304C>G (p.His2102Asp)
c.3994C>G (p.His1332Asp)
n.8693C>G
18g.23928754C>TCA402064262LAMA3c.3598C>T (p.His1200Tyr)
c.8425C>T (p.His2809Tyr)
c.5020C>T (p.His1674Tyr)
c.8257C>T (p.His2753Tyr)
c.3203C>T
c.3430C>T (p.His1144Tyr)
c.130C>T (p.His44Tyr)
n.3003C>T
c.8452C>T (p.His2818Tyr)
c.8443C>T (p.His2815Tyr)
c.8434C>T (p.His2812Tyr)
c.8320C>T (p.His2774Tyr)
c.8155C>T (p.His2719Tyr)
c.6304C>T (p.His2102Tyr)
c.3994C>T (p.His1332Tyr)
n.8693C>T
 gnomAD v4
18g.23928755A>CCA402064268LAMA3c.3599A>C (p.His1200Pro)
c.8426A>C (p.His2809Pro)
c.5021A>C (p.His1674Pro)
c.8258A>C (p.His2753Pro)
c.3204A>C
c.3431A>C (p.His1144Pro)
c.131A>C (p.His44Pro)
n.3004A>C
c.8453A>C (p.His2818Pro)
c.8444A>C (p.His2815Pro)
c.8435A>C (p.His2812Pro)
c.8321A>C (p.His2774Pro)
c.8156A>C (p.His2719Pro)
c.6305A>C (p.His2102Pro)
c.3995A>C (p.His1332Pro)
n.8694A>C
18g.23928755A>GCA402064264LAMA3c.3599A>G (p.His1200Arg)
c.8426A>G (p.His2809Arg)
c.5021A>G (p.His1674Arg)
c.8258A>G (p.His2753Arg)
c.3204A>G
c.3431A>G (p.His1144Arg)
c.131A>G (p.His44Arg)
n.3004A>G
c.8453A>G (p.His2818Arg)
c.8444A>G (p.His2815Arg)
c.8435A>G (p.His2812Arg)
c.8321A>G (p.His2774Arg)
c.8156A>G (p.His2719Arg)
c.6305A>G (p.His2102Arg)
c.3995A>G (p.His1332Arg)
n.8694A>G
18g.23928755A>TCA402064266LAMA3c.3599A>T (p.His1200Leu)
c.8426A>T (p.His2809Leu)
c.5021A>T (p.His1674Leu)
c.8258A>T (p.His2753Leu)
c.3204A>T
c.3431A>T (p.His1144Leu)
c.131A>T (p.His44Leu)
n.3004A>T
c.8453A>T (p.His2818Leu)
c.8444A>T (p.His2815Leu)
c.8435A>T (p.His2812Leu)
c.8321A>T (p.His2774Leu)
c.8156A>T (p.His2719Leu)
c.6305A>T (p.His2102Leu)
c.3995A>T (p.His1332Leu)
n.8694A>T
18g.23928756T>ACA402064270LAMA3c.3600T>A (p.His1200Gln)
c.8427T>A (p.His2809Gln)
c.5022T>A (p.His1674Gln)
c.8259T>A (p.His2753Gln)
c.3205T>A
c.3432T>A (p.His1144Gln)
c.132T>A (p.His44Gln)
n.3005T>A
c.8454T>A (p.His2818Gln)
c.8445T>A (p.His2815Gln)
c.8436T>A (p.His2812Gln)
c.8322T>A (p.His2774Gln)
c.8157T>A (p.His2719Gln)
c.6306T>A (p.His2102Gln)
c.3996T>A (p.His1332Gln)
n.8695T>A
18g.23928756T>CCA8916910LAMA3c.3600T>C (p.His1200=)
c.8427T>C (p.His2809=)
c.5022T>C (p.His1674=)
c.8259T>C (p.His2753=)
c.3205T>C
c.3432T>C (p.His1144=)
c.132T>C (p.His44=)
n.3005T>C
c.8454T>C (p.His2818=)
c.8445T>C (p.His2815=)
c.8436T>C (p.His2812=)
c.8322T>C (p.His2774=)
c.8157T>C (p.His2719=)
c.6306T>C (p.His2102=)
c.3996T>C (p.His1332=)
n.8695T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928756T>GCA402064272LAMA3c.3600T>G (p.His1200Gln)
c.8427T>G (p.His2809Gln)
c.5022T>G (p.His1674Gln)
c.8259T>G (p.His2753Gln)
c.3205T>G
c.3432T>G (p.His1144Gln)
c.132T>G (p.His44Gln)
n.3005T>G
c.8454T>G (p.His2818Gln)
c.8445T>G (p.His2815Gln)
c.8436T>G (p.His2812Gln)
c.8322T>G (p.His2774Gln)
c.8157T>G (p.His2719Gln)
c.6306T>G (p.His2102Gln)
c.3996T>G (p.His1332Gln)
n.8695T>G
18g.23928756T=CA2290334851LAMA3c.3600T= (p.His1200=)
c.8427T= (p.His2809=)
c.5022T= (p.His1674=)
c.8259T= (p.His2753=)
c.3205T=
c.3432T= (p.His1144=)
c.132T= (p.His44=)
n.3005T=
c.8454T= (p.His2818=)
c.8445T= (p.His2815=)
c.8436T= (p.His2812=)
c.8322T= (p.His2774=)
c.8157T= (p.His2719=)
c.6306T= (p.His2102=)
c.3996T= (p.His1332=)
n.8695T=
18g.23928757C>ACA402064276LAMA3c.3601C>A (p.Gln1201Lys)
c.8428C>A (p.Gln2810Lys)
c.5023C>A (p.Gln1675Lys)
c.8260C>A (p.Gln2754Lys)
c.3206C>A
c.3433C>A (p.Gln1145Lys)
c.133C>A (p.Gln45Lys)
n.3006C>A
c.8455C>A (p.Gln2819Lys)
c.8446C>A (p.Gln2816Lys)
c.8437C>A (p.Gln2813Lys)
c.8323C>A (p.Gln2775Lys)
c.8158C>A (p.Gln2720Lys)
c.6307C>A (p.Gln2103Lys)
c.3997C>A (p.Gln1333Lys)
n.8696C>A
18g.23928757C>GCA402064279LAMA3c.3601C>G (p.Gln1201Glu)
c.8428C>G (p.Gln2810Glu)
c.5023C>G (p.Gln1675Glu)
c.8260C>G (p.Gln2754Glu)
c.3206C>G
c.3433C>G (p.Gln1145Glu)
c.133C>G (p.Gln45Glu)
n.3006C>G
c.8455C>G (p.Gln2819Glu)
c.8446C>G (p.Gln2816Glu)
c.8437C>G (p.Gln2813Glu)
c.8323C>G (p.Gln2775Glu)
c.8158C>G (p.Gln2720Glu)
c.6307C>G (p.Gln2103Glu)
c.3997C>G (p.Gln1333Glu)
n.8696C>G
18g.23928757C>TCA402064277LAMA3c.3601C>T (p.Gln1201Ter)
c.8428C>T (p.Gln2810Ter)
c.5023C>T (p.Gln1675Ter)
c.8260C>T (p.Gln2754Ter)
c.3206C>T
c.3433C>T (p.Gln1145Ter)
c.133C>T (p.Gln45Ter)
n.3006C>T
c.8455C>T (p.Gln2819Ter)
c.8446C>T (p.Gln2816Ter)
c.8437C>T (p.Gln2813Ter)
c.8323C>T (p.Gln2775Ter)
c.8158C>T (p.Gln2720Ter)
c.6307C>T (p.Gln2103Ter)
c.3997C>T (p.Gln1333Ter)
n.8696C>T
18g.23928758A>CCA402064281LAMA3c.3602A>C (p.Gln1201Pro)
c.8429A>C (p.Gln2810Pro)
c.5024A>C (p.Gln1675Pro)
c.8261A>C (p.Gln2754Pro)
c.3207A>C
c.3434A>C (p.Gln1145Pro)
c.134A>C (p.Gln45Pro)
n.3007A>C
c.8456A>C (p.Gln2819Pro)
c.8447A>C (p.Gln2816Pro)
c.8438A>C (p.Gln2813Pro)
c.8324A>C (p.Gln2775Pro)
c.8159A>C (p.Gln2720Pro)
c.6308A>C (p.Gln2103Pro)
c.3998A>C (p.Gln1333Pro)
n.8697A>C
18g.23928758A>GCA402064283LAMA3c.3602A>G (p.Gln1201Arg)
c.8429A>G (p.Gln2810Arg)
c.5024A>G (p.Gln1675Arg)
c.8261A>G (p.Gln2754Arg)
c.3207A>G
c.3434A>G (p.Gln1145Arg)
c.134A>G (p.Gln45Arg)
n.3007A>G
c.8456A>G (p.Gln2819Arg)
c.8447A>G (p.Gln2816Arg)
c.8438A>G (p.Gln2813Arg)
c.8324A>G (p.Gln2775Arg)
c.8159A>G (p.Gln2720Arg)
c.6308A>G (p.Gln2103Arg)
c.3998A>G (p.Gln1333Arg)
n.8697A>G
18g.23928758A>TCA402064284LAMA3c.3602A>T (p.Gln1201Leu)
c.8429A>T (p.Gln2810Leu)
c.5024A>T (p.Gln1675Leu)
c.8261A>T (p.Gln2754Leu)
c.3207A>T
c.3434A>T (p.Gln1145Leu)
c.134A>T (p.Gln45Leu)
n.3007A>T
c.8456A>T (p.Gln2819Leu)
c.8447A>T (p.Gln2816Leu)
c.8438A>T (p.Gln2813Leu)
c.8324A>T (p.Gln2775Leu)
c.8159A>T (p.Gln2720Leu)
c.6308A>T (p.Gln2103Leu)
c.3998A>T (p.Gln1333Leu)
n.8697A>T
18g.23928759G>ACA503340833LAMA3c.3603G>A (p.Gln1201=)
c.8430G>A (p.Gln2810=)
c.5025G>A (p.Gln1675=)
c.8262G>A (p.Gln2754=)
c.3208G>A
c.3435G>A (p.Gln1145=)
c.135G>A (p.Gln45=)
n.3008G>A
c.8457G>A (p.Gln2819=)
c.8448G>A (p.Gln2816=)
c.8439G>A (p.Gln2813=)
c.8325G>A (p.Gln2775=)
c.8160G>A (p.Gln2720=)
c.6309G>A (p.Gln2103=)
c.3999G>A (p.Gln1333=)
n.8698G>A
18g.23928759G>CCA8916911LAMA3c.3603G>C (p.Gln1201His)
c.8430G>C (p.Gln2810His)
c.5025G>C (p.Gln1675His)
c.8262G>C (p.Gln2754His)
c.3208G>C
c.3435G>C (p.Gln1145His)
c.135G>C (p.Gln45His)
n.3008G>C
c.8457G>C (p.Gln2819His)
c.8448G>C (p.Gln2816His)
c.8439G>C (p.Gln2813His)
c.8325G>C (p.Gln2775His)
c.8160G>C (p.Gln2720His)
c.6309G>C (p.Gln2103His)
c.3999G>C (p.Gln1333His)
n.8698G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928759G=CA2290334852LAMA3c.3603G= (p.Gln1201=)
c.8430G= (p.Gln2810=)
c.5025G= (p.Gln1675=)
c.8262G= (p.Gln2754=)
c.3208G=
c.3435G= (p.Gln1145=)
c.135G= (p.Gln45=)
n.3008G=
c.8457G= (p.Gln2819=)
c.8448G= (p.Gln2816=)
c.8439G= (p.Gln2813=)
c.8325G= (p.Gln2775=)
c.8160G= (p.Gln2720=)
c.6309G= (p.Gln2103=)
c.3999G= (p.Gln1333=)
n.8698G=
18g.23928759G>TCA402064288LAMA3c.3603G>T (p.Gln1201His)
c.8430G>T (p.Gln2810His)
c.5025G>T (p.Gln1675His)
c.8262G>T (p.Gln2754His)
c.3208G>T
c.3435G>T (p.Gln1145His)
c.135G>T (p.Gln45His)
n.3008G>T
c.8457G>T (p.Gln2819His)
c.8448G>T (p.Gln2816His)
c.8439G>T (p.Gln2813His)
c.8325G>T (p.Gln2775His)
c.8160G>T (p.Gln2720His)
c.6309G>T (p.Gln2103His)
c.3999G>T (p.Gln1333His)
n.8698G>T
18g.23928760A>CCA402064291LAMA3c.3604A>C (p.Thr1202Pro)
c.8431A>C (p.Thr2811Pro)
c.5026A>C (p.Thr1676Pro)
c.8263A>C (p.Thr2755Pro)
c.3209A>C
c.3436A>C (p.Thr1146Pro)
c.136A>C (p.Thr46Pro)
n.3009A>C
c.8458A>C (p.Thr2820Pro)
c.8449A>C (p.Thr2817Pro)
c.8440A>C (p.Thr2814Pro)
c.8326A>C (p.Thr2776Pro)
c.8161A>C (p.Thr2721Pro)
c.6310A>C (p.Thr2104Pro)
c.4000A>C (p.Thr1334Pro)
n.8699A>C
18g.23928760A>GCA402064294LAMA3c.3604A>G (p.Thr1202Ala)
c.8431A>G (p.Thr2811Ala)
c.5026A>G (p.Thr1676Ala)
c.8263A>G (p.Thr2755Ala)
c.3209A>G
c.3436A>G (p.Thr1146Ala)
c.136A>G (p.Thr46Ala)
n.3009A>G
c.8458A>G (p.Thr2820Ala)
c.8449A>G (p.Thr2817Ala)
c.8440A>G (p.Thr2814Ala)
c.8326A>G (p.Thr2776Ala)
c.8161A>G (p.Thr2721Ala)
c.6310A>G (p.Thr2104Ala)
c.4000A>G (p.Thr1334Ala)
n.8699A>G
18g.23928760A>TCA402064297LAMA3c.3604A>T (p.Thr1202Ser)
c.8431A>T (p.Thr2811Ser)
c.5026A>T (p.Thr1676Ser)
c.8263A>T (p.Thr2755Ser)
c.3209A>T
c.3436A>T (p.Thr1146Ser)
c.136A>T (p.Thr46Ser)
n.3009A>T
c.8458A>T (p.Thr2820Ser)
c.8449A>T (p.Thr2817Ser)
c.8440A>T (p.Thr2814Ser)
c.8326A>T (p.Thr2776Ser)
c.8161A>T (p.Thr2721Ser)
c.6310A>T (p.Thr2104Ser)
c.4000A>T (p.Thr1334Ser)
n.8699A>T
18g.23928761C>ACA402064299LAMA3c.3605C>A (p.Thr1202Lys)
c.8432C>A (p.Thr2811Lys)
c.5027C>A (p.Thr1676Lys)
c.8264C>A (p.Thr2755Lys)
c.3210C>A
c.3437C>A (p.Thr1146Lys)
c.137C>A (p.Thr46Lys)
n.3010C>A
c.8459C>A (p.Thr2820Lys)
c.8450C>A (p.Thr2817Lys)
c.8441C>A (p.Thr2814Lys)
c.8327C>A (p.Thr2776Lys)
c.8162C>A (p.Thr2721Lys)
c.6311C>A (p.Thr2104Lys)
c.4001C>A (p.Thr1334Lys)
n.8700C>A
18g.23928761C>GCA402064303LAMA3c.3605C>G (p.Thr1202Arg)
c.8432C>G (p.Thr2811Arg)
c.5027C>G (p.Thr1676Arg)
c.8264C>G (p.Thr2755Arg)
c.3210C>G
c.3437C>G (p.Thr1146Arg)
c.137C>G (p.Thr46Arg)
n.3010C>G
c.8459C>G (p.Thr2820Arg)
c.8450C>G (p.Thr2817Arg)
c.8441C>G (p.Thr2814Arg)
c.8327C>G (p.Thr2776Arg)
c.8162C>G (p.Thr2721Arg)
c.6311C>G (p.Thr2104Arg)
c.4001C>G (p.Thr1334Arg)
n.8700C>G
18g.23928761C>TCA402064306LAMA3c.3605C>T (p.Thr1202Ile)
c.8432C>T (p.Thr2811Ile)
c.5027C>T (p.Thr1676Ile)
c.8264C>T (p.Thr2755Ile)
c.3210C>T
c.3437C>T (p.Thr1146Ile)
c.137C>T (p.Thr46Ile)
n.3010C>T
c.8459C>T (p.Thr2820Ile)
c.8450C>T (p.Thr2817Ile)
c.8441C>T (p.Thr2814Ile)
c.8327C>T (p.Thr2776Ile)
c.8162C>T (p.Thr2721Ile)
c.6311C>T (p.Thr2104Ile)
c.4001C>T (p.Thr1334Ile)
n.8700C>T
 gnomAD v4
18g.23928762A=CA2290334853LAMA3c.3606A= (p.Thr1202=)
c.8433A= (p.Thr2811=)
c.5028A= (p.Thr1676=)
c.8265A= (p.Thr2755=)
c.3211A=
c.3438A= (p.Thr1146=)
c.138A= (p.Thr46=)
n.3011A=
c.8460A= (p.Thr2820=)
c.8451A= (p.Thr2817=)
c.8442A= (p.Thr2814=)
c.8328A= (p.Thr2776=)
c.8163A= (p.Thr2721=)
c.6312A= (p.Thr2104=)
c.4002A= (p.Thr1334=)
n.8701A=
18g.23928762A>CCA503340834LAMA3c.3606A>C (p.Thr1202=)
c.8433A>C (p.Thr2811=)
c.5028A>C (p.Thr1676=)
c.8265A>C (p.Thr2755=)
c.3211A>C
c.3438A>C (p.Thr1146=)
c.138A>C (p.Thr46=)
n.3011A>C
c.8460A>C (p.Thr2820=)
c.8451A>C (p.Thr2817=)
c.8442A>C (p.Thr2814=)
c.8328A>C (p.Thr2776=)
c.8163A>C (p.Thr2721=)
c.6312A>C (p.Thr2104=)
c.4002A>C (p.Thr1334=)
n.8701A>C
18g.23928762A>GCA8916912LAMA3c.3606A>G (p.Thr1202=)
c.8433A>G (p.Thr2811=)
c.5028A>G (p.Thr1676=)
c.8265A>G (p.Thr2755=)
c.3211A>G
c.3438A>G (p.Thr1146=)
c.138A>G (p.Thr46=)
n.3011A>G
c.8460A>G (p.Thr2820=)
c.8451A>G (p.Thr2817=)
c.8442A>G (p.Thr2814=)
c.8328A>G (p.Thr2776=)
c.8163A>G (p.Thr2721=)
c.6312A>G (p.Thr2104=)
c.4002A>G (p.Thr1334=)
n.8701A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928762A>TCA503340835LAMA3c.3606A>T (p.Thr1202=)
c.8433A>T (p.Thr2811=)
c.5028A>T (p.Thr1676=)
c.8265A>T (p.Thr2755=)
c.3211A>T
c.3438A>T (p.Thr1146=)
c.138A>T (p.Thr46=)
n.3011A>T
c.8460A>T (p.Thr2820=)
c.8451A>T (p.Thr2817=)
c.8442A>T (p.Thr2814=)
c.8328A>T (p.Thr2776=)
c.8163A>T (p.Thr2721=)
c.6312A>T (p.Thr2104=)
c.4002A>T (p.Thr1334=)
n.8701A>T
 gnomAD v4
18g.23928763T>ACA402064323LAMA3c.3607T>A (p.Trp1203Arg)
c.8434T>A (p.Trp2812Arg)
c.5029T>A (p.Trp1677Arg)
c.8266T>A (p.Trp2756Arg)
c.3212T>A
c.3439T>A (p.Trp1147Arg)
c.139T>A (p.Trp47Arg)
n.3012T>A
c.8461T>A (p.Trp2821Arg)
c.8452T>A (p.Trp2818Arg)
c.8443T>A (p.Trp2815Arg)
c.8329T>A (p.Trp2777Arg)
c.8164T>A (p.Trp2722Arg)
c.6313T>A (p.Trp2105Arg)
c.4003T>A (p.Trp1335Arg)
n.8702T>A
18g.23928763T>CCA402064312LAMA3c.3607T>C (p.Trp1203Arg)
c.8434T>C (p.Trp2812Arg)
c.5029T>C (p.Trp1677Arg)
c.8266T>C (p.Trp2756Arg)
c.3212T>C
c.3439T>C (p.Trp1147Arg)
c.139T>C (p.Trp47Arg)
n.3012T>C
c.8461T>C (p.Trp2821Arg)
c.8452T>C (p.Trp2818Arg)
c.8443T>C (p.Trp2815Arg)
c.8329T>C (p.Trp2777Arg)
c.8164T>C (p.Trp2722Arg)
c.6313T>C (p.Trp2105Arg)
c.4003T>C (p.Trp1335Arg)
n.8702T>C
 gnomAD v4
18g.23928763T>GCA402064315LAMA3c.3607T>G (p.Trp1203Gly)
c.8434T>G (p.Trp2812Gly)
c.5029T>G (p.Trp1677Gly)
c.8266T>G (p.Trp2756Gly)
c.3212T>G
c.3439T>G (p.Trp1147Gly)
c.139T>G (p.Trp47Gly)
n.3012T>G
c.8461T>G (p.Trp2821Gly)
c.8452T>G (p.Trp2818Gly)
c.8443T>G (p.Trp2815Gly)
c.8329T>G (p.Trp2777Gly)
c.8164T>G (p.Trp2722Gly)
c.6313T>G (p.Trp2105Gly)
c.4003T>G (p.Trp1335Gly)
n.8702T>G
18g.23928764G>ACA402064326LAMA3c.3608G>A (p.Trp1203Ter)
c.8435G>A (p.Trp2812Ter)
c.5030G>A (p.Trp1677Ter)
c.8267G>A (p.Trp2756Ter)
c.3213G>A
c.3440G>A (p.Trp1147Ter)
c.140G>A (p.Trp47Ter)
n.3013G>A
c.8462G>A (p.Trp2821Ter)
c.8453G>A (p.Trp2818Ter)
c.8444G>A (p.Trp2815Ter)
c.8330G>A (p.Trp2777Ter)
c.8165G>A (p.Trp2722Ter)
c.6314G>A (p.Trp2105Ter)
c.4004G>A (p.Trp1335Ter)
n.8703G>A
18g.23928764G>CCA402064329LAMA3c.3608G>C (p.Trp1203Ser)
c.8435G>C (p.Trp2812Ser)
c.5030G>C (p.Trp1677Ser)
c.8267G>C (p.Trp2756Ser)
c.3213G>C
c.3440G>C (p.Trp1147Ser)
c.140G>C (p.Trp47Ser)
n.3013G>C
c.8462G>C (p.Trp2821Ser)
c.8453G>C (p.Trp2818Ser)
c.8444G>C (p.Trp2815Ser)
c.8330G>C (p.Trp2777Ser)
c.8165G>C (p.Trp2722Ser)
c.6314G>C (p.Trp2105Ser)
c.4004G>C (p.Trp1335Ser)
n.8703G>C
18g.23928764G>TCA402064330LAMA3c.3608G>T (p.Trp1203Leu)
c.8435G>T (p.Trp2812Leu)
c.5030G>T (p.Trp1677Leu)
c.8267G>T (p.Trp2756Leu)
c.3213G>T
c.3440G>T (p.Trp1147Leu)
c.140G>T (p.Trp47Leu)
n.3013G>T
c.8462G>T (p.Trp2821Leu)
c.8453G>T (p.Trp2818Leu)
c.8444G>T (p.Trp2815Leu)
c.8330G>T (p.Trp2777Leu)
c.8165G>T (p.Trp2722Leu)
c.6314G>T (p.Trp2105Leu)
c.4004G>T (p.Trp1335Leu)
n.8703G>T
 gnomAD v4
18g.23928765G>ACA16041940LAMA3c.3609G>A (p.Trp1203Ter)
c.8436G>A (p.Trp2812Ter)
c.5031G>A (p.Trp1677Ter)
c.8268G>A (p.Trp2756Ter)
c.3214G>A
c.3441G>A (p.Trp1147Ter)
c.141G>A (p.Trp47Ter)
n.3014G>A
c.8463G>A (p.Trp2821Ter)
c.8454G>A (p.Trp2818Ter)
c.8445G>A (p.Trp2815Ter)
c.8331G>A (p.Trp2777Ter)
c.8166G>A (p.Trp2722Ter)
c.6315G>A (p.Trp2105Ter)
c.4005G>A (p.Trp1335Ter)
n.8704G>A
 ClinVar dbSNP
18g.23928765G>CCA402064334LAMA3c.3609G>C (p.Trp1203Cys)
c.8436G>C (p.Trp2812Cys)
c.5031G>C (p.Trp1677Cys)
c.8268G>C (p.Trp2756Cys)
c.3214G>C
c.3441G>C (p.Trp1147Cys)
c.141G>C (p.Trp47Cys)
n.3014G>C
c.8463G>C (p.Trp2821Cys)
c.8454G>C (p.Trp2818Cys)
c.8445G>C (p.Trp2815Cys)
c.8331G>C (p.Trp2777Cys)
c.8166G>C (p.Trp2722Cys)
c.6315G>C (p.Trp2105Cys)
c.4005G>C (p.Trp1335Cys)
n.8704G>C
18g.23928765G=CA2290334854LAMA3c.3609G= (p.Trp1203=)
c.8436G= (p.Trp2812=)
c.5031G= (p.Trp1677=)
c.8268G= (p.Trp2756=)
c.3214G=
c.3441G= (p.Trp1147=)
c.141G= (p.Trp47=)
n.3014G=
c.8463G= (p.Trp2821=)
c.8454G= (p.Trp2818=)
c.8445G= (p.Trp2815=)
c.8331G= (p.Trp2777=)
c.8166G= (p.Trp2722=)
c.6315G= (p.Trp2105=)
c.4005G= (p.Trp1335=)
n.8704G=
18g.23928765G>TCA402064336LAMA3c.3609G>T (p.Trp1203Cys)
c.8436G>T (p.Trp2812Cys)
c.5031G>T (p.Trp1677Cys)
c.8268G>T (p.Trp2756Cys)
c.3214G>T
c.3441G>T (p.Trp1147Cys)
c.141G>T (p.Trp47Cys)
n.3014G>T
c.8463G>T (p.Trp2821Cys)
c.8454G>T (p.Trp2818Cys)
c.8445G>T (p.Trp2815Cys)
c.8331G>T (p.Trp2777Cys)
c.8166G>T (p.Trp2722Cys)
c.6315G>T (p.Trp2105Cys)
c.4005G>T (p.Trp1335Cys)
n.8704G>T
 dbSNP gnomAD v3 gnomAD v4
18g.23928765_23928766insACAAGGAACCTGCAGCA2734655930LAMA3c.3609_3609+1insACAAGGAACCTGCAG (p.Trp1203_Thr1204insThrArgAsnLeuGln)
c.8436_8436+1insACAAGGAACCTGCAG (p.Trp2812_Thr2813insThrArgAsnLeuGln)
c.5031_5031+1insACAAGGAACCTGCAG (p.Trp1677_Thr1678insThrArgAsnLeuGln)
c.8268_8268+1insACAAGGAACCTGCAG (p.Trp2756_Thr2757insThrArgAsnLeuGln)
c.3214_3214+1insACAAGGAACCTGCAG
c.3441_3441+1insACAAGGAACCTGCAG (p.Trp1147_Thr1148insThrArgAsnLeuGln)
c.141_141+1insACAAGGAACCTGCAG (p.Trp47_Thr48insThrArgAsnLeuGln)
n.3014_3014+1insACAAGGAACCTGCAG
c.8463_8463+1insACAAGGAACCTGCAG (p.Trp2821_Thr2822insThrArgAsnLeuGln)
c.8454_8454+1insACAAGGAACCTGCAG (p.Trp2818_Thr2819insThrArgAsnLeuGln)
c.8445_8445+1insACAAGGAACCTGCAG (p.Trp2815_Thr2816insThrArgAsnLeuGln)
c.8331_8331+1insACAAGGAACCTGCAG (p.Trp2777_Thr2778insThrArgAsnLeuGln)
c.8166_8166+1insACAAGGAACCTGCAG (p.Trp2722_Thr2723insThrArgAsnLeuGln)
c.6315_6315+1insACAAGGAACCTGCAG (p.Trp2105_Thr2106insThrArgAsnLeuGln)
c.4005_4005+1insACAAGGAACCTGCAG (p.Trp1335_Thr1336insThrArgAsnLeuGln)
n.8704_8704+1insACAAGGAACCTGCAG
 dbSNP
18g.23928766G>ACA10588677LAMA3c.3609+1G>A (n.3609+1G>A)
c.8436+1G>A (n.8436+1G>A)
c.5031+1G>A (n.5031+1G>A)
c.8268+1G>A (n.8268+1G>A)
c.3214+1G>A
c.3441+1G>A (n.3441+1G>A)
c.141+1G>A (n.141+1G>A)
n.3014+1G>A
c.8463+1G>A (n.8463+1G>A)
c.8454+1G>A (n.8454+1G>A)
c.8445+1G>A (n.8445+1G>A)
c.8331+1G>A (n.8331+1G>A)
c.8166+1G>A (n.8166+1G>A)
c.6315+1G>A (n.6315+1G>A)
c.4005+1G>A (n.4005+1G>A)
n.8704+1G>A
 ClinVar dbSNP
18g.23928766G>CCA402064352LAMA3c.3609+1G>C (n.3609+1G>C)
c.8436+1G>C (n.8436+1G>C)
c.5031+1G>C (n.5031+1G>C)
c.8268+1G>C (n.8268+1G>C)
c.3214+1G>C
c.3441+1G>C (n.3441+1G>C)
c.141+1G>C (n.141+1G>C)
n.3014+1G>C
c.8463+1G>C (n.8463+1G>C)
c.8454+1G>C (n.8454+1G>C)
c.8445+1G>C (n.8445+1G>C)
c.8331+1G>C (n.8331+1G>C)
c.8166+1G>C (n.8166+1G>C)
c.6315+1G>C (n.6315+1G>C)
c.4005+1G>C (n.4005+1G>C)
n.8704+1G>C
18g.23928766G=CA2290334855LAMA3c.3609+1G= (n.3609+1G=)
c.8436+1G= (n.8436+1G=)
c.5031+1G= (n.5031+1G=)
c.8268+1G= (n.8268+1G=)
c.3214+1G=
c.3441+1G= (n.3441+1G=)
c.141+1G= (n.141+1G=)
n.3014+1G=
c.8463+1G= (n.8463+1G=)
c.8454+1G= (n.8454+1G=)
c.8445+1G= (n.8445+1G=)
c.8331+1G= (n.8331+1G=)
c.8166+1G= (n.8166+1G=)
c.6315+1G= (n.6315+1G=)
c.4005+1G= (n.4005+1G=)
n.8704+1G=
18g.23928766G>TCA402064354LAMA3c.3609+1G>T (n.3609+1G>T)
c.8436+1G>T (n.8436+1G>T)
c.5031+1G>T (n.5031+1G>T)
c.8268+1G>T (n.8268+1G>T)
c.3214+1G>T
c.3441+1G>T (n.3441+1G>T)
c.141+1G>T (n.141+1G>T)
n.3014+1G>T
c.8463+1G>T (n.8463+1G>T)
c.8454+1G>T (n.8454+1G>T)
c.8445+1G>T (n.8445+1G>T)
c.8331+1G>T (n.8331+1G>T)
c.8166+1G>T (n.8166+1G>T)
c.6315+1G>T (n.6315+1G>T)
c.4005+1G>T (n.4005+1G>T)
n.8704+1G>T
18g.23928767T>ACA402064359LAMA3c.3609+2T>A (n.3609+2T>A)
c.8436+2T>A (n.8436+2T>A)
c.5031+2T>A (n.5031+2T>A)
c.8268+2T>A (n.8268+2T>A)
c.3214+2T>A
c.3441+2T>A (n.3441+2T>A)
c.141+2T>A (n.141+2T>A)
n.3014+2T>A
c.8463+2T>A (n.8463+2T>A)
c.8454+2T>A (n.8454+2T>A)
c.8445+2T>A (n.8445+2T>A)
c.8331+2T>A (n.8331+2T>A)
c.8166+2T>A (n.8166+2T>A)
c.6315+2T>A (n.6315+2T>A)
c.4005+2T>A (n.4005+2T>A)
n.8704+2T>A
18g.23928767T>CCA402064362LAMA3c.3609+2T>C (n.3609+2T>C)
c.8436+2T>C (n.8436+2T>C)
c.5031+2T>C (n.5031+2T>C)
c.8268+2T>C (n.8268+2T>C)
c.3214+2T>C
c.3441+2T>C (n.3441+2T>C)
c.141+2T>C (n.141+2T>C)
n.3014+2T>C
c.8463+2T>C (n.8463+2T>C)
c.8454+2T>C (n.8454+2T>C)
c.8445+2T>C (n.8445+2T>C)
c.8331+2T>C (n.8331+2T>C)
c.8166+2T>C (n.8166+2T>C)
c.6315+2T>C (n.6315+2T>C)
c.4005+2T>C (n.4005+2T>C)
n.8704+2T>C
18g.23928767T>GCA402064365LAMA3c.3609+2T>G (n.3609+2T>G)
c.8436+2T>G (n.8436+2T>G)
c.5031+2T>G (n.5031+2T>G)
c.8268+2T>G (n.8268+2T>G)
c.3214+2T>G
c.3441+2T>G (n.3441+2T>G)
c.141+2T>G (n.141+2T>G)
n.3014+2T>G
c.8463+2T>G (n.8463+2T>G)
c.8454+2T>G (n.8454+2T>G)
c.8445+2T>G (n.8445+2T>G)
c.8331+2T>G (n.8331+2T>G)
c.8166+2T>G (n.8166+2T>G)
c.6315+2T>G (n.6315+2T>G)
c.4005+2T>G (n.4005+2T>G)
n.8704+2T>G
18g.23928767_23928768insCACTCTGGACA2734656424LAMA3c.3609+2_3609+3insCACTCTGGA (n.3609+2_3609+3insCACTCTGGA)
c.8436+2_8436+3insCACTCTGGA (n.8436+2_8436+3insCACTCTGGA)
c.5031+2_5031+3insCACTCTGGA (n.5031+2_5031+3insCACTCTGGA)
c.8268+2_8268+3insCACTCTGGA (n.8268+2_8268+3insCACTCTGGA)
c.3214+2_3214+3insCACTCTGGA
c.3441+2_3441+3insCACTCTGGA (n.3441+2_3441+3insCACTCTGGA)
c.141+2_141+3insCACTCTGGA (n.141+2_141+3insCACTCTGGA)
n.3014+2_3014+3insCACTCTGGA
c.8463+2_8463+3insCACTCTGGA (n.8463+2_8463+3insCACTCTGGA)
c.8454+2_8454+3insCACTCTGGA (n.8454+2_8454+3insCACTCTGGA)
c.8445+2_8445+3insCACTCTGGA (n.8445+2_8445+3insCACTCTGGA)
c.8331+2_8331+3insCACTCTGGA (n.8331+2_8331+3insCACTCTGGA)
c.8166+2_8166+3insCACTCTGGA (n.8166+2_8166+3insCACTCTGGA)
c.6315+2_6315+3insCACTCTGGA (n.6315+2_6315+3insCACTCTGGA)
c.4005+2_4005+3insCACTCTGGA (n.4005+2_4005+3insCACTCTGGA)
n.8704+2_8704+3insCACTCTGGA
 dbSNP
18g.23928768A=CA2290334856LAMA3c.3609+3A= (n.3609+3A=)
c.8436+3A= (n.8436+3A=)
c.5031+3A= (n.5031+3A=)
c.8268+3A= (n.8268+3A=)
c.3214+3A=
c.3441+3A= (n.3441+3A=)
c.141+3A= (n.141+3A=)
n.3014+3A=
c.8463+3A= (n.8463+3A=)
c.8454+3A= (n.8454+3A=)
c.8445+3A= (n.8445+3A=)
c.8331+3A= (n.8331+3A=)
c.8166+3A= (n.8166+3A=)
c.6315+3A= (n.6315+3A=)
c.4005+3A= (n.4005+3A=)
n.8704+3A=
18g.23928768A>GCA777736547LAMA3c.3609+3A>G (n.3609+3A>G)
c.8436+3A>G (n.8436+3A>G)
c.5031+3A>G (n.5031+3A>G)
c.8268+3A>G (n.8268+3A>G)
c.3214+3A>G
c.3441+3A>G (n.3441+3A>G)
c.141+3A>G (n.141+3A>G)
n.3014+3A>G
c.8463+3A>G (n.8463+3A>G)
c.8454+3A>G (n.8454+3A>G)
c.8445+3A>G (n.8445+3A>G)
c.8331+3A>G (n.8331+3A>G)
c.8166+3A>G (n.8166+3A>G)
c.6315+3A>G (n.6315+3A>G)
c.4005+3A>G (n.4005+3A>G)
n.8704+3A>G
 dbSNP
18g.23928771C>ACA2641297801LAMA3c.3609+6C>A (n.3609+6C>A)
c.8436+6C>A (n.8436+6C>A)
c.5031+6C>A (n.5031+6C>A)
c.8268+6C>A (n.8268+6C>A)
c.3214+6C>A
c.3441+6C>A (n.3441+6C>A)
c.141+6C>A (n.141+6C>A)
n.3014+6C>A
c.8463+6C>A (n.8463+6C>A)
c.8454+6C>A (n.8454+6C>A)
c.8445+6C>A (n.8445+6C>A)
c.8331+6C>A (n.8331+6C>A)
c.8166+6C>A (n.8166+6C>A)
c.6315+6C>A (n.6315+6C>A)
c.4005+6C>A (n.4005+6C>A)
n.8704+6C>A
 gnomAD v4
18g.23928773G>ACA8916913LAMA3c.3609+8G>A (n.3609+8G>A)
c.8436+8G>A (n.8436+8G>A)
c.5031+8G>A (n.5031+8G>A)
c.8268+8G>A (n.8268+8G>A)
c.3214+8G>A
c.3441+8G>A (n.3441+8G>A)
c.141+8G>A (n.141+8G>A)
n.3014+8G>A
c.8463+8G>A (n.8463+8G>A)
c.8454+8G>A (n.8454+8G>A)
c.8445+8G>A (n.8445+8G>A)
c.8331+8G>A (n.8331+8G>A)
c.8166+8G>A (n.8166+8G>A)
c.6315+8G>A (n.6315+8G>A)
c.4005+8G>A (n.4005+8G>A)
n.8704+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928773G>CCA915952459LAMA3c.3609+8G>C (n.3609+8G>C)
c.8436+8G>C (n.8436+8G>C)
c.5031+8G>C (n.5031+8G>C)
c.8268+8G>C (n.8268+8G>C)
c.3214+8G>C
c.3441+8G>C (n.3441+8G>C)
c.141+8G>C (n.141+8G>C)
n.3014+8G>C
c.8463+8G>C (n.8463+8G>C)
c.8454+8G>C (n.8454+8G>C)
c.8445+8G>C (n.8445+8G>C)
c.8331+8G>C (n.8331+8G>C)
c.8166+8G>C (n.8166+8G>C)
c.6315+8G>C (n.6315+8G>C)
c.4005+8G>C (n.4005+8G>C)
n.8704+8G>C
 ClinVar dbSNP
18g.23928773G=CA2290334857LAMA3c.3609+8G= (n.3609+8G=)
c.8436+8G= (n.8436+8G=)
c.5031+8G= (n.5031+8G=)
c.8268+8G= (n.8268+8G=)
c.3214+8G=
c.3441+8G= (n.3441+8G=)
c.141+8G= (n.141+8G=)
n.3014+8G=
c.8463+8G= (n.8463+8G=)
c.8454+8G= (n.8454+8G=)
c.8445+8G= (n.8445+8G=)
c.8331+8G= (n.8331+8G=)
c.8166+8G= (n.8166+8G=)
c.6315+8G= (n.6315+8G=)
c.4005+8G= (n.4005+8G=)
n.8704+8G=
18g.23928773G>TCA8916914LAMA3c.3609+8G>T (n.3609+8G>T)
c.8436+8G>T (n.8436+8G>T)
c.5031+8G>T (n.5031+8G>T)
c.8268+8G>T (n.8268+8G>T)
c.3214+8G>T
c.3441+8G>T (n.3441+8G>T)
c.141+8G>T (n.141+8G>T)
n.3014+8G>T
c.8463+8G>T (n.8463+8G>T)
c.8454+8G>T (n.8454+8G>T)
c.8445+8G>T (n.8445+8G>T)
c.8331+8G>T (n.8331+8G>T)
c.8166+8G>T (n.8166+8G>T)
c.6315+8G>T (n.6315+8G>T)
c.4005+8G>T (n.4005+8G>T)
n.8704+8G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928774T>CCA2697555444LAMA3c.3609+9T>C (n.3609+9T>C)
c.8436+9T>C (n.8436+9T>C)
c.5031+9T>C (n.5031+9T>C)
c.8268+9T>C (n.8268+9T>C)
c.3214+9T>C
c.3441+9T>C (n.3441+9T>C)
c.141+9T>C (n.141+9T>C)
n.3014+9T>C
c.8463+9T>C (n.8463+9T>C)
c.8454+9T>C (n.8454+9T>C)
c.8445+9T>C (n.8445+9T>C)
c.8331+9T>C (n.8331+9T>C)
c.8166+9T>C (n.8166+9T>C)
c.6315+9T>C (n.6315+9T>C)
c.4005+9T>C (n.4005+9T>C)
n.8704+9T>C
 ClinVar
18g.23928774T>GCA2641297812LAMA3c.3609+9T>G (n.3609+9T>G)
c.8436+9T>G (n.8436+9T>G)
c.5031+9T>G (n.5031+9T>G)
c.8268+9T>G (n.8268+9T>G)
c.3214+9T>G
c.3441+9T>G (n.3441+9T>G)
c.141+9T>G (n.141+9T>G)
n.3014+9T>G
c.8463+9T>G (n.8463+9T>G)
c.8454+9T>G (n.8454+9T>G)
c.8445+9T>G (n.8445+9T>G)
c.8331+9T>G (n.8331+9T>G)
c.8166+9T>G (n.8166+9T>G)
c.6315+9T>G (n.6315+9T>G)
c.4005+9T>G (n.4005+9T>G)
n.8704+9T>G
 gnomAD v4
18g.23928775A=CA2290334858LAMA3c.3609+10A= (n.3609+10A=)
c.8436+10A= (n.8436+10A=)
c.5031+10A= (n.5031+10A=)
c.8268+10A= (n.8268+10A=)
c.3214+10A=
c.3441+10A= (n.3441+10A=)
c.141+10A= (n.141+10A=)
n.3014+10A=
c.8463+10A= (n.8463+10A=)
c.8454+10A= (n.8454+10A=)
c.8445+10A= (n.8445+10A=)
c.8331+10A= (n.8331+10A=)
c.8166+10A= (n.8166+10A=)
c.6315+10A= (n.6315+10A=)
c.4005+10A= (n.4005+10A=)
n.8704+10A=
18g.23928775A>CCA2641297813LAMA3c.3609+10A>C (n.3609+10A>C)
c.8436+10A>C (n.8436+10A>C)
c.5031+10A>C (n.5031+10A>C)
c.8268+10A>C (n.8268+10A>C)
c.3214+10A>C
c.3441+10A>C (n.3441+10A>C)
c.141+10A>C (n.141+10A>C)
n.3014+10A>C
c.8463+10A>C (n.8463+10A>C)
c.8454+10A>C (n.8454+10A>C)
c.8445+10A>C (n.8445+10A>C)
c.8331+10A>C (n.8331+10A>C)
c.8166+10A>C (n.8166+10A>C)
c.6315+10A>C (n.6315+10A>C)
c.4005+10A>C (n.4005+10A>C)
n.8704+10A>C
 gnomAD v4
18g.23928775A>GCA628685898LAMA3c.3609+10A>G (n.3609+10A>G)
c.8436+10A>G (n.8436+10A>G)
c.5031+10A>G (n.5031+10A>G)
c.8268+10A>G (n.8268+10A>G)
c.3214+10A>G
c.3441+10A>G (n.3441+10A>G)
c.141+10A>G (n.141+10A>G)
n.3014+10A>G
c.8463+10A>G (n.8463+10A>G)
c.8454+10A>G (n.8454+10A>G)
c.8445+10A>G (n.8445+10A>G)
c.8331+10A>G (n.8331+10A>G)
c.8166+10A>G (n.8166+10A>G)
c.6315+10A>G (n.6315+10A>G)
c.4005+10A>G (n.4005+10A>G)
n.8704+10A>G
 dbSNP gnomAD v2
18g.23928775A>TCA2641297814LAMA3c.3609+10A>T (n.3609+10A>T)
c.8436+10A>T (n.8436+10A>T)
c.5031+10A>T (n.5031+10A>T)
c.8268+10A>T (n.8268+10A>T)
c.3214+10A>T
c.3441+10A>T (n.3441+10A>T)
c.141+10A>T (n.141+10A>T)
n.3014+10A>T
c.8463+10A>T (n.8463+10A>T)
c.8454+10A>T (n.8454+10A>T)
c.8445+10A>T (n.8445+10A>T)
c.8331+10A>T (n.8331+10A>T)
c.8166+10A>T (n.8166+10A>T)
c.6315+10A>T (n.6315+10A>T)
c.4005+10A>T (n.4005+10A>T)
n.8704+10A>T
 gnomAD v4
18g.23928776G>ACA2641297816LAMA3c.3609+11G>A (n.3609+11G>A)
c.8436+11G>A (n.8436+11G>A)
c.5031+11G>A (n.5031+11G>A)
c.8268+11G>A (n.8268+11G>A)
c.3214+11G>A
c.3441+11G>A (n.3441+11G>A)
c.141+11G>A (n.141+11G>A)
n.3014+11G>A
c.8463+11G>A (n.8463+11G>A)
c.8454+11G>A (n.8454+11G>A)
c.8445+11G>A (n.8445+11G>A)
c.8331+11G>A (n.8331+11G>A)
c.8166+11G>A (n.8166+11G>A)
c.6315+11G>A (n.6315+11G>A)
c.4005+11G>A (n.4005+11G>A)
n.8704+11G>A
 gnomAD v4
18g.23928778G>ACA2641297817LAMA3c.3609+13G>A (n.3609+13G>A)
c.8436+13G>A (n.8436+13G>A)
c.5031+13G>A (n.5031+13G>A)
c.8268+13G>A (n.8268+13G>A)
c.3214+13G>A
c.3441+13G>A (n.3441+13G>A)
c.141+13G>A (n.141+13G>A)
n.3014+13G>A
c.8463+13G>A (n.8463+13G>A)
c.8454+13G>A (n.8454+13G>A)
c.8445+13G>A (n.8445+13G>A)
c.8331+13G>A (n.8331+13G>A)
c.8166+13G>A (n.8166+13G>A)
c.6315+13G>A (n.6315+13G>A)
c.4005+13G>A (n.4005+13G>A)
n.8704+13G>A
 gnomAD v4
18g.23928778G>TCA2641297818LAMA3c.3609+13G>T (n.3609+13G>T)
c.8436+13G>T (n.8436+13G>T)
c.5031+13G>T (n.5031+13G>T)
c.8268+13G>T (n.8268+13G>T)
c.3214+13G>T
c.3441+13G>T (n.3441+13G>T)
c.141+13G>T (n.141+13G>T)
n.3014+13G>T
c.8463+13G>T (n.8463+13G>T)
c.8454+13G>T (n.8454+13G>T)
c.8445+13G>T (n.8445+13G>T)
c.8331+13G>T (n.8331+13G>T)
c.8166+13G>T (n.8166+13G>T)
c.6315+13G>T (n.6315+13G>T)
c.4005+13G>T (n.4005+13G>T)
n.8704+13G>T
 gnomAD v4
18g.23928779C>ACA2576473123LAMA3c.3609+14C>A (n.3609+14C>A)
c.8436+14C>A (n.8436+14C>A)
c.5031+14C>A (n.5031+14C>A)
c.8268+14C>A (n.8268+14C>A)
c.3214+14C>A
c.3441+14C>A (n.3441+14C>A)
c.141+14C>A (n.141+14C>A)
n.3014+14C>A
c.8463+14C>A (n.8463+14C>A)
c.8454+14C>A (n.8454+14C>A)
c.8445+14C>A (n.8445+14C>A)
c.8331+14C>A (n.8331+14C>A)
c.8166+14C>A (n.8166+14C>A)
c.6315+14C>A (n.6315+14C>A)
c.4005+14C>A (n.4005+14C>A)
n.8704+14C>A
 gnomAD v4
18g.23928780A>GCA2697555445LAMA3c.3609+15A>G (n.3609+15A>G)
c.8436+15A>G (n.8436+15A>G)
c.5031+15A>G (n.5031+15A>G)
c.8268+15A>G (n.8268+15A>G)
c.3214+15A>G
c.3441+15A>G (n.3441+15A>G)
c.141+15A>G (n.141+15A>G)
n.3014+15A>G
c.8463+15A>G (n.8463+15A>G)
c.8454+15A>G (n.8454+15A>G)
c.8445+15A>G (n.8445+15A>G)
c.8331+15A>G (n.8331+15A>G)
c.8166+15A>G (n.8166+15A>G)
c.6315+15A>G (n.6315+15A>G)
c.4005+15A>G (n.4005+15A>G)
n.8704+15A>G
 ClinVar
18g.23928782T>GCA2290334860LAMA3c.3609+17T>G (n.3609+17T>G)
c.8436+17T>G (n.8436+17T>G)
c.5031+17T>G (n.5031+17T>G)
c.8268+17T>G (n.8268+17T>G)
c.3214+17T>G
c.3441+17T>G (n.3441+17T>G)
c.141+17T>G (n.141+17T>G)
n.3014+17T>G
c.8463+17T>G (n.8463+17T>G)
c.8454+17T>G (n.8454+17T>G)
c.8445+17T>G (n.8445+17T>G)
c.8331+17T>G (n.8331+17T>G)
c.8166+17T>G (n.8166+17T>G)
c.6315+17T>G (n.6315+17T>G)
c.4005+17T>G (n.4005+17T>G)
n.8704+17T>G
 dbSNP gnomAD v4
18g.23928782T=CA2290334859LAMA3c.3609+17T= (n.3609+17T=)
c.8436+17T= (n.8436+17T=)
c.5031+17T= (n.5031+17T=)
c.8268+17T= (n.8268+17T=)
c.3214+17T=
c.3441+17T= (n.3441+17T=)
c.141+17T= (n.141+17T=)
n.3014+17T=
c.8463+17T= (n.8463+17T=)
c.8454+17T= (n.8454+17T=)
c.8445+17T= (n.8445+17T=)
c.8331+17T= (n.8331+17T=)
c.8166+17T= (n.8166+17T=)
c.6315+17T= (n.6315+17T=)
c.4005+17T= (n.4005+17T=)
n.8704+17T=
18g.23928783A>CCA2697555446LAMA3c.3609+18A>C (n.3609+18A>C)
c.8436+18A>C (n.8436+18A>C)
c.5031+18A>C (n.5031+18A>C)
c.8268+18A>C (n.8268+18A>C)
c.3214+18A>C
c.3441+18A>C (n.3441+18A>C)
c.141+18A>C (n.141+18A>C)
n.3014+18A>C
c.8463+18A>C (n.8463+18A>C)
c.8454+18A>C (n.8454+18A>C)
c.8445+18A>C (n.8445+18A>C)
c.8331+18A>C (n.8331+18A>C)
c.8166+18A>C (n.8166+18A>C)
c.6315+18A>C (n.6315+18A>C)
c.4005+18A>C (n.4005+18A>C)
n.8704+18A>C
 ClinVar
18g.23928784A>GCA2641297822LAMA3c.3609+19A>G (n.3609+19A>G)
c.8436+19A>G (n.8436+19A>G)
c.5031+19A>G (n.5031+19A>G)
c.8268+19A>G (n.8268+19A>G)
c.3214+19A>G
c.3441+19A>G (n.3441+19A>G)
c.141+19A>G (n.141+19A>G)
n.3014+19A>G
c.8463+19A>G (n.8463+19A>G)
c.8454+19A>G (n.8454+19A>G)
c.8445+19A>G (n.8445+19A>G)
c.8331+19A>G (n.8331+19A>G)
c.8166+19A>G (n.8166+19A>G)
c.6315+19A>G (n.6315+19A>G)
c.4005+19A>G (n.4005+19A>G)
n.8704+19A>G
 gnomAD v4

Number of alleles fetched