Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23928158T>A | CA402063035 | LAMA3 | c.3386T>A (p.Met1129Lys) c.8213T>A (p.Met2738Lys) c.4808T>A (p.Met1603Lys) c.8045T>A (p.Met2682Lys) c.2991T>A c.3218T>A (p.Met1073Lys) n.2791T>A c.8240T>A (p.Met2747Lys) c.8231T>A (p.Met2744Lys) c.8222T>A (p.Met2741Lys) c.8108T>A (p.Met2703Lys) c.7943T>A (p.Met2648Lys) c.6092T>A (p.Met2031Lys) c.3782T>A (p.Met1261Lys) n.8481T>A | |
18 | g.23928158T>C | CA402063036 | LAMA3 | c.3386T>C (p.Met1129Thr) c.8213T>C (p.Met2738Thr) c.4808T>C (p.Met1603Thr) c.8045T>C (p.Met2682Thr) c.2991T>C c.3218T>C (p.Met1073Thr) n.2791T>C c.8240T>C (p.Met2747Thr) c.8231T>C (p.Met2744Thr) c.8222T>C (p.Met2741Thr) c.8108T>C (p.Met2703Thr) c.7943T>C (p.Met2648Thr) c.6092T>C (p.Met2031Thr) c.3782T>C (p.Met1261Thr) n.8481T>C | gnomAD v4 |
18 | g.23928158T>G | CA402063037 | LAMA3 | c.3386T>G (p.Met1129Arg) c.8213T>G (p.Met2738Arg) c.4808T>G (p.Met1603Arg) c.8045T>G (p.Met2682Arg) c.2991T>G c.3218T>G (p.Met1073Arg) n.2791T>G c.8240T>G (p.Met2747Arg) c.8231T>G (p.Met2744Arg) c.8222T>G (p.Met2741Arg) c.8108T>G (p.Met2703Arg) c.7943T>G (p.Met2648Arg) c.6092T>G (p.Met2031Arg) c.3782T>G (p.Met1261Arg) n.8481T>G | |
18 | g.23928159G>A | CA8916875 | LAMA3 | c.3387G>A (p.Met1129Ile) c.8214G>A (p.Met2738Ile) c.4809G>A (p.Met1603Ile) c.8046G>A (p.Met2682Ile) c.2992G>A c.3219G>A (p.Met1073Ile) n.2792G>A c.8241G>A (p.Met2747Ile) c.8232G>A (p.Met2744Ile) c.8223G>A (p.Met2741Ile) c.8109G>A (p.Met2703Ile) c.7944G>A (p.Met2648Ile) c.6093G>A (p.Met2031Ile) c.3783G>A (p.Met1261Ile) n.8482G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23928159G>C | CA402063040 | LAMA3 | c.3387G>C (p.Met1129Ile) c.8214G>C (p.Met2738Ile) c.4809G>C (p.Met1603Ile) c.8046G>C (p.Met2682Ile) c.2992G>C c.3219G>C (p.Met1073Ile) n.2792G>C c.8241G>C (p.Met2747Ile) c.8232G>C (p.Met2744Ile) c.8223G>C (p.Met2741Ile) c.8109G>C (p.Met2703Ile) c.7944G>C (p.Met2648Ile) c.6093G>C (p.Met2031Ile) c.3783G>C (p.Met1261Ile) n.8482G>C | |
18 | g.23928159G= | CA2290334609 | LAMA3 | c.3387G= (p.Met1129=) c.8214G= (p.Met2738=) c.4809G= (p.Met1603=) c.8046G= (p.Met2682=) c.2992G= c.3219G= (p.Met1073=) n.2792G= c.8241G= (p.Met2747=) c.8232G= (p.Met2744=) c.8223G= (p.Met2741=) c.8109G= (p.Met2703=) c.7944G= (p.Met2648=) c.6093G= (p.Met2031=) c.3783G= (p.Met1261=) n.8482G= | |
18 | g.23928159G>T | CA402063041 | LAMA3 | c.3387G>T (p.Met1129Ile) c.8214G>T (p.Met2738Ile) c.4809G>T (p.Met1603Ile) c.8046G>T (p.Met2682Ile) c.2992G>T c.3219G>T (p.Met1073Ile) n.2792G>T c.8241G>T (p.Met2747Ile) c.8232G>T (p.Met2744Ile) c.8223G>T (p.Met2741Ile) c.8109G>T (p.Met2703Ile) c.7944G>T (p.Met2648Ile) c.6093G>T (p.Met2031Ile) c.3783G>T (p.Met1261Ile) n.8482G>T | |
18 | g.23928160A>C | CA402063042 | LAMA3 | c.3388A>C (p.Lys1130Gln) c.8215A>C (p.Lys2739Gln) c.4810A>C (p.Lys1604Gln) c.8047A>C (p.Lys2683Gln) c.2993A>C c.3220A>C (p.Lys1074Gln) n.2793A>C c.8242A>C (p.Lys2748Gln) c.8233A>C (p.Lys2745Gln) c.8224A>C (p.Lys2742Gln) c.8110A>C (p.Lys2704Gln) c.7945A>C (p.Lys2649Gln) c.6094A>C (p.Lys2032Gln) c.3784A>C (p.Lys1262Gln) n.8483A>C | |
18 | g.23928160A>G | CA402063043 | LAMA3 | c.3388A>G (p.Lys1130Glu) c.8215A>G (p.Lys2739Glu) c.4810A>G (p.Lys1604Glu) c.8047A>G (p.Lys2683Glu) c.2993A>G c.3220A>G (p.Lys1074Glu) n.2793A>G c.8242A>G (p.Lys2748Glu) c.8233A>G (p.Lys2745Glu) c.8224A>G (p.Lys2742Glu) c.8110A>G (p.Lys2704Glu) c.7945A>G (p.Lys2649Glu) c.6094A>G (p.Lys2032Glu) c.3784A>G (p.Lys1262Glu) n.8483A>G | |
18 | g.23928160A>T | CA402063044 | LAMA3 | c.3388A>T (p.Lys1130Ter) c.8215A>T (p.Lys2739Ter) c.4810A>T (p.Lys1604Ter) c.8047A>T (p.Lys2683Ter) c.2993A>T c.3220A>T (p.Lys1074Ter) n.2793A>T c.8242A>T (p.Lys2748Ter) c.8233A>T (p.Lys2745Ter) c.8224A>T (p.Lys2742Ter) c.8110A>T (p.Lys2704Ter) c.7945A>T (p.Lys2649Ter) c.6094A>T (p.Lys2032Ter) c.3784A>T (p.Lys1262Ter) n.8483A>T | |
18 | g.23928164dup | CA2811823252 | LAMA3 | c.3392dup (p.Asn1131LysfsTer10) c.8219dup (p.Asn2740LysfsTer10) c.4814dup (p.Asn1605LysfsTer10) c.8051dup (p.Asn2684LysfsTer10) c.2997dup c.3224dup (p.Asn1075LysfsTer10) n.2797dup c.8246dup (p.Asn2749LysfsTer10) c.8237dup (p.Asn2746LysfsTer10) c.8228dup (p.Asn2743LysfsTer10) c.8114dup (p.Asn2705LysfsTer10) c.7949dup (p.Asn2650LysfsTer10) c.6098dup (p.Asn2033LysfsTer10) c.3788dup (p.Asn1263LysfsTer10) n.8487dup | |
18 | g.23928161A>C | CA402063045 | LAMA3 | c.3389A>C (p.Lys1130Thr) c.8216A>C (p.Lys2739Thr) c.4811A>C (p.Lys1604Thr) c.8048A>C (p.Lys2683Thr) c.2994A>C c.3221A>C (p.Lys1074Thr) n.2794A>C c.8243A>C (p.Lys2748Thr) c.8234A>C (p.Lys2745Thr) c.8225A>C (p.Lys2742Thr) c.8111A>C (p.Lys2704Thr) c.7946A>C (p.Lys2649Thr) c.6095A>C (p.Lys2032Thr) c.3785A>C (p.Lys1262Thr) n.8484A>C | |
18 | g.23928161A>G | CA402063046 | LAMA3 | c.3389A>G (p.Lys1130Arg) c.8216A>G (p.Lys2739Arg) c.4811A>G (p.Lys1604Arg) c.8048A>G (p.Lys2683Arg) c.2994A>G c.3221A>G (p.Lys1074Arg) n.2794A>G c.8243A>G (p.Lys2748Arg) c.8234A>G (p.Lys2745Arg) c.8225A>G (p.Lys2742Arg) c.8111A>G (p.Lys2704Arg) c.7946A>G (p.Lys2649Arg) c.6095A>G (p.Lys2032Arg) c.3785A>G (p.Lys1262Arg) n.8484A>G | |
18 | g.23928161A>T | CA402063048 | LAMA3 | c.3389A>T (p.Lys1130Ile) c.8216A>T (p.Lys2739Ile) c.4811A>T (p.Lys1604Ile) c.8048A>T (p.Lys2683Ile) c.2994A>T c.3221A>T (p.Lys1074Ile) n.2794A>T c.8243A>T (p.Lys2748Ile) c.8234A>T (p.Lys2745Ile) c.8225A>T (p.Lys2742Ile) c.8111A>T (p.Lys2704Ile) c.7946A>T (p.Lys2649Ile) c.6095A>T (p.Lys2032Ile) c.3785A>T (p.Lys1262Ile) n.8484A>T | |
18 | g.23928162A>C | CA402063052 | LAMA3 | c.3390A>C (p.Lys1130Asn) c.8217A>C (p.Lys2739Asn) c.4812A>C (p.Lys1604Asn) c.8049A>C (p.Lys2683Asn) c.2995A>C c.3222A>C (p.Lys1074Asn) n.2795A>C c.8244A>C (p.Lys2748Asn) c.8235A>C (p.Lys2745Asn) c.8226A>C (p.Lys2742Asn) c.8112A>C (p.Lys2704Asn) c.7947A>C (p.Lys2649Asn) c.6096A>C (p.Lys2032Asn) c.3786A>C (p.Lys1262Asn) n.8485A>C | |
18 | g.23928162A>G | CA503340627 | LAMA3 | c.3390A>G (p.Lys1130=) c.8217A>G (p.Lys2739=) c.4812A>G (p.Lys1604=) c.8049A>G (p.Lys2683=) c.2995A>G c.3222A>G (p.Lys1074=) n.2795A>G c.8244A>G (p.Lys2748=) c.8235A>G (p.Lys2745=) c.8226A>G (p.Lys2742=) c.8112A>G (p.Lys2704=) c.7947A>G (p.Lys2649=) c.6096A>G (p.Lys2032=) c.3786A>G (p.Lys1262=) n.8485A>G | |
18 | g.23928162A>T | CA402063050 | LAMA3 | c.3390A>T (p.Lys1130Asn) c.8217A>T (p.Lys2739Asn) c.4812A>T (p.Lys1604Asn) c.8049A>T (p.Lys2683Asn) c.2995A>T c.3222A>T (p.Lys1074Asn) n.2795A>T c.8244A>T (p.Lys2748Asn) c.8235A>T (p.Lys2745Asn) c.8226A>T (p.Lys2742Asn) c.8112A>T (p.Lys2704Asn) c.7947A>T (p.Lys2649Asn) c.6096A>T (p.Lys2032Asn) c.3786A>T (p.Lys1262Asn) n.8485A>T | |
18 | g.23928163A>C | CA402063055 | LAMA3 | c.3391A>C (p.Asn1131His) c.8218A>C (p.Asn2740His) c.4813A>C (p.Asn1605His) c.8050A>C (p.Asn2684His) c.2996A>C c.3223A>C (p.Asn1075His) n.2796A>C c.8245A>C (p.Asn2749His) c.8236A>C (p.Asn2746His) c.8227A>C (p.Asn2743His) c.8113A>C (p.Asn2705His) c.7948A>C (p.Asn2650His) c.6097A>C (p.Asn2033His) c.3787A>C (p.Asn1263His) n.8486A>C | |
18 | g.23928163A>G | CA402063057 | LAMA3 | c.3391A>G (p.Asn1131Asp) c.8218A>G (p.Asn2740Asp) c.4813A>G (p.Asn1605Asp) c.8050A>G (p.Asn2684Asp) c.2996A>G c.3223A>G (p.Asn1075Asp) n.2796A>G c.8245A>G (p.Asn2749Asp) c.8236A>G (p.Asn2746Asp) c.8227A>G (p.Asn2743Asp) c.8113A>G (p.Asn2705Asp) c.7948A>G (p.Asn2650Asp) c.6097A>G (p.Asn2033Asp) c.3787A>G (p.Asn1263Asp) n.8486A>G | |
18 | g.23928163A>T | CA402063058 | LAMA3 | c.3391A>T (p.Asn1131Tyr) c.8218A>T (p.Asn2740Tyr) c.4813A>T (p.Asn1605Tyr) c.8050A>T (p.Asn2684Tyr) c.2996A>T c.3223A>T (p.Asn1075Tyr) n.2796A>T c.8245A>T (p.Asn2749Tyr) c.8236A>T (p.Asn2746Tyr) c.8227A>T (p.Asn2743Tyr) c.8113A>T (p.Asn2705Tyr) c.7948A>T (p.Asn2650Tyr) c.6097A>T (p.Asn2033Tyr) c.3787A>T (p.Asn1263Tyr) n.8486A>T | |
18 | g.23928164A= | CA2290334610 | LAMA3 | c.3392A= (p.Asn1131=) c.8219A= (p.Asn2740=) c.4814A= (p.Asn1605=) c.8051A= (p.Asn2684=) c.2997A= c.3224A= (p.Asn1075=) n.2797A= c.8246A= (p.Asn2749=) c.8237A= (p.Asn2746=) c.8228A= (p.Asn2743=) c.8114A= (p.Asn2705=) c.7949A= (p.Asn2650=) c.6098A= (p.Asn2033=) c.3788A= (p.Asn1263=) n.8487A= | |
18 | g.23928164A>C | CA402063062 | LAMA3 | c.3392A>C (p.Asn1131Thr) c.8219A>C (p.Asn2740Thr) c.4814A>C (p.Asn1605Thr) c.8051A>C (p.Asn2684Thr) c.2997A>C c.3224A>C (p.Asn1075Thr) n.2797A>C c.8246A>C (p.Asn2749Thr) c.8237A>C (p.Asn2746Thr) c.8228A>C (p.Asn2743Thr) c.8114A>C (p.Asn2705Thr) c.7949A>C (p.Asn2650Thr) c.6098A>C (p.Asn2033Thr) c.3788A>C (p.Asn1263Thr) n.8487A>C | dbSNP |
18 | g.23928164A>G | CA402063064 | LAMA3 | c.3392A>G (p.Asn1131Ser) c.8219A>G (p.Asn2740Ser) c.4814A>G (p.Asn1605Ser) c.8051A>G (p.Asn2684Ser) c.2997A>G c.3224A>G (p.Asn1075Ser) n.2797A>G c.8246A>G (p.Asn2749Ser) c.8237A>G (p.Asn2746Ser) c.8228A>G (p.Asn2743Ser) c.8114A>G (p.Asn2705Ser) c.7949A>G (p.Asn2650Ser) c.6098A>G (p.Asn2033Ser) c.3788A>G (p.Asn1263Ser) n.8487A>G | |
18 | g.23928164A>T | CA402063066 | LAMA3 | c.3392A>T (p.Asn1131Ile) c.8219A>T (p.Asn2740Ile) c.4814A>T (p.Asn1605Ile) c.8051A>T (p.Asn2684Ile) c.2997A>T c.3224A>T (p.Asn1075Ile) n.2797A>T c.8246A>T (p.Asn2749Ile) c.8237A>T (p.Asn2746Ile) c.8228A>T (p.Asn2743Ile) c.8114A>T (p.Asn2705Ile) c.7949A>T (p.Asn2650Ile) c.6098A>T (p.Asn2033Ile) c.3788A>T (p.Asn1263Ile) n.8487A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23928165T>A | CA402063069 | LAMA3 | c.3393T>A (p.Asn1131Lys) c.8220T>A (p.Asn2740Lys) c.4815T>A (p.Asn1605Lys) c.8052T>A (p.Asn2684Lys) c.2998T>A c.3225T>A (p.Asn1075Lys) n.2798T>A c.8247T>A (p.Asn2749Lys) c.8238T>A (p.Asn2746Lys) c.8229T>A (p.Asn2743Lys) c.8115T>A (p.Asn2705Lys) c.7950T>A (p.Asn2650Lys) c.6099T>A (p.Asn2033Lys) c.3789T>A (p.Asn1263Lys) n.8488T>A | gnomAD v4 COSMIC COSMIC |
18 | g.23928165T>C | CA503340628 | LAMA3 | c.3393T>C (p.Asn1131=) c.8220T>C (p.Asn2740=) c.4815T>C (p.Asn1605=) c.8052T>C (p.Asn2684=) c.2998T>C c.3225T>C (p.Asn1075=) n.2798T>C c.8247T>C (p.Asn2749=) c.8238T>C (p.Asn2746=) c.8229T>C (p.Asn2743=) c.8115T>C (p.Asn2705=) c.7950T>C (p.Asn2650=) c.6099T>C (p.Asn2033=) c.3789T>C (p.Asn1263=) n.8488T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23928165T>G | CA402063071 | LAMA3 | c.3393T>G (p.Asn1131Lys) c.8220T>G (p.Asn2740Lys) c.4815T>G (p.Asn1605Lys) c.8052T>G (p.Asn2684Lys) c.2998T>G c.3225T>G (p.Asn1075Lys) n.2798T>G c.8247T>G (p.Asn2749Lys) c.8238T>G (p.Asn2746Lys) c.8229T>G (p.Asn2743Lys) c.8115T>G (p.Asn2705Lys) c.7950T>G (p.Asn2650Lys) c.6099T>G (p.Asn2033Lys) c.3789T>G (p.Asn1263Lys) n.8488T>G | |
18 | g.23928165T= | CA2290334611 | LAMA3 | c.3393T= (p.Asn1131=) c.8220T= (p.Asn2740=) c.4815T= (p.Asn1605=) c.8052T= (p.Asn2684=) c.2998T= c.3225T= (p.Asn1075=) n.2798T= c.8247T= (p.Asn2749=) c.8238T= (p.Asn2746=) c.8229T= (p.Asn2743=) c.8115T= (p.Asn2705=) c.7950T= (p.Asn2650=) c.6099T= (p.Asn2033=) c.3789T= (p.Asn1263=) n.8488T= | |
18 | g.23928166T>A | CA402063073 | LAMA3 | c.3394T>A (p.Leu1132Met) c.8221T>A (p.Leu2741Met) c.4816T>A (p.Leu1606Met) c.8053T>A (p.Leu2685Met) c.2999T>A c.3226T>A (p.Leu1076Met) n.2799T>A c.8248T>A (p.Leu2750Met) c.8239T>A (p.Leu2747Met) c.8230T>A (p.Leu2744Met) c.8116T>A (p.Leu2706Met) c.7951T>A (p.Leu2651Met) c.6100T>A (p.Leu2034Met) c.3790T>A (p.Leu1264Met) n.8489T>A | |
18 | g.23928166T>C | CA503340629 | LAMA3 | c.3394T>C (p.Leu1132=) c.8221T>C (p.Leu2741=) c.4816T>C (p.Leu1606=) c.8053T>C (p.Leu2685=) c.2999T>C c.3226T>C (p.Leu1076=) n.2799T>C c.8248T>C (p.Leu2750=) c.8239T>C (p.Leu2747=) c.8230T>C (p.Leu2744=) c.8116T>C (p.Leu2706=) c.7951T>C (p.Leu2651=) c.6100T>C (p.Leu2034=) c.3790T>C (p.Leu1264=) n.8489T>C | |
18 | g.23928166T>G | CA402063076 | LAMA3 | c.3394T>G (p.Leu1132Val) c.8221T>G (p.Leu2741Val) c.4816T>G (p.Leu1606Val) c.8053T>G (p.Leu2685Val) c.2999T>G c.3226T>G (p.Leu1076Val) n.2799T>G c.8248T>G (p.Leu2750Val) c.8239T>G (p.Leu2747Val) c.8230T>G (p.Leu2744Val) c.8116T>G (p.Leu2706Val) c.7951T>G (p.Leu2651Val) c.6100T>G (p.Leu2034Val) c.3790T>G (p.Leu1264Val) n.8489T>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23928166T= | CA2290334612 | LAMA3 | c.3394T= (p.Leu1132=) c.8221T= (p.Leu2741=) c.4816T= (p.Leu1606=) c.8053T= (p.Leu2685=) c.2999T= c.3226T= (p.Leu1076=) n.2799T= c.8248T= (p.Leu2750=) c.8239T= (p.Leu2747=) c.8230T= (p.Leu2744=) c.8116T= (p.Leu2706=) c.7951T= (p.Leu2651=) c.6100T= (p.Leu2034=) c.3790T= (p.Leu1264=) n.8489T= | |
18 | g.23928167T>A | CA402063079 | LAMA3 | c.3395T>A (p.Leu1132Ter) c.8222T>A (p.Leu2741Ter) c.4817T>A (p.Leu1606Ter) c.8054T>A (p.Leu2685Ter) c.3000T>A c.3227T>A (p.Leu1076Ter) n.2800T>A c.8249T>A (p.Leu2750Ter) c.8240T>A (p.Leu2747Ter) c.8231T>A (p.Leu2744Ter) c.8117T>A (p.Leu2706Ter) c.7952T>A (p.Leu2651Ter) c.6101T>A (p.Leu2034Ter) c.3791T>A (p.Leu1264Ter) n.8490T>A | |
18 | g.23928167T>C | CA402063081 | LAMA3 | c.3395T>C (p.Leu1132Ser) c.8222T>C (p.Leu2741Ser) c.4817T>C (p.Leu1606Ser) c.8054T>C (p.Leu2685Ser) c.3000T>C c.3227T>C (p.Leu1076Ser) n.2800T>C c.8249T>C (p.Leu2750Ser) c.8240T>C (p.Leu2747Ser) c.8231T>C (p.Leu2744Ser) c.8117T>C (p.Leu2706Ser) c.7952T>C (p.Leu2651Ser) c.6101T>C (p.Leu2034Ser) c.3791T>C (p.Leu1264Ser) n.8490T>C | |
18 | g.23928167T>G | CA402063083 | LAMA3 | c.3395T>G (p.Leu1132Trp) c.8222T>G (p.Leu2741Trp) c.4817T>G (p.Leu1606Trp) c.8054T>G (p.Leu2685Trp) c.3000T>G c.3227T>G (p.Leu1076Trp) n.2800T>G c.8249T>G (p.Leu2750Trp) c.8240T>G (p.Leu2747Trp) c.8231T>G (p.Leu2744Trp) c.8117T>G (p.Leu2706Trp) c.7952T>G (p.Leu2651Trp) c.6101T>G (p.Leu2034Trp) c.3791T>G (p.Leu1264Trp) n.8490T>G | |
18 | g.23928168G>A | CA503340630 | LAMA3 | c.3396G>A (p.Leu1132=) c.8223G>A (p.Leu2741=) c.4818G>A (p.Leu1606=) c.8055G>A (p.Leu2685=) c.3001G>A c.3228G>A (p.Leu1076=) n.2801G>A c.8250G>A (p.Leu2750=) c.8241G>A (p.Leu2747=) c.8232G>A (p.Leu2744=) c.8118G>A (p.Leu2706=) c.7953G>A (p.Leu2651=) c.6102G>A (p.Leu2034=) c.3792G>A (p.Leu1264=) n.8491G>A | |
18 | g.23928168G>C | CA402063086 | LAMA3 | c.3396G>C (p.Leu1132Phe) c.8223G>C (p.Leu2741Phe) c.4818G>C (p.Leu1606Phe) c.8055G>C (p.Leu2685Phe) c.3001G>C c.3228G>C (p.Leu1076Phe) n.2801G>C c.8250G>C (p.Leu2750Phe) c.8241G>C (p.Leu2747Phe) c.8232G>C (p.Leu2744Phe) c.8118G>C (p.Leu2706Phe) c.7953G>C (p.Leu2651Phe) c.6102G>C (p.Leu2034Phe) c.3792G>C (p.Leu1264Phe) n.8491G>C | |
18 | g.23928168G>T | CA402063085 | LAMA3 | c.3396G>T (p.Leu1132Phe) c.8223G>T (p.Leu2741Phe) c.4818G>T (p.Leu1606Phe) c.8055G>T (p.Leu2685Phe) c.3001G>T c.3228G>T (p.Leu1076Phe) n.2801G>T c.8250G>T (p.Leu2750Phe) c.8241G>T (p.Leu2747Phe) c.8232G>T (p.Leu2744Phe) c.8118G>T (p.Leu2706Phe) c.7953G>T (p.Leu2651Phe) c.6102G>T (p.Leu2034Phe) c.3792G>T (p.Leu1264Phe) n.8491G>T | |
18 | g.23928169A>C | CA402063089 | LAMA3 | c.3397A>C (p.Lys1133Gln) c.8224A>C (p.Lys2742Gln) c.4819A>C (p.Lys1607Gln) c.8056A>C (p.Lys2686Gln) c.3002A>C c.3229A>C (p.Lys1077Gln) n.2802A>C c.8251A>C (p.Lys2751Gln) c.8242A>C (p.Lys2748Gln) c.8233A>C (p.Lys2745Gln) c.8119A>C (p.Lys2707Gln) c.7954A>C (p.Lys2652Gln) c.6103A>C (p.Lys2035Gln) c.3793A>C (p.Lys1265Gln) n.8492A>C | |
18 | g.23928169A>G | CA402063092 | LAMA3 | c.3397A>G (p.Lys1133Glu) c.8224A>G (p.Lys2742Glu) c.4819A>G (p.Lys1607Glu) c.8056A>G (p.Lys2686Glu) c.3002A>G c.3229A>G (p.Lys1077Glu) n.2802A>G c.8251A>G (p.Lys2751Glu) c.8242A>G (p.Lys2748Glu) c.8233A>G (p.Lys2745Glu) c.8119A>G (p.Lys2707Glu) c.7954A>G (p.Lys2652Glu) c.6103A>G (p.Lys2035Glu) c.3793A>G (p.Lys1265Glu) n.8492A>G | |
18 | g.23928169A>T | CA402063091 | LAMA3 | c.3397A>T (p.Lys1133Ter) c.8224A>T (p.Lys2742Ter) c.4819A>T (p.Lys1607Ter) c.8056A>T (p.Lys2686Ter) c.3002A>T c.3229A>T (p.Lys1077Ter) n.2802A>T c.8251A>T (p.Lys2751Ter) c.8242A>T (p.Lys2748Ter) c.8233A>T (p.Lys2745Ter) c.8119A>T (p.Lys2707Ter) c.7954A>T (p.Lys2652Ter) c.6103A>T (p.Lys2035Ter) c.3793A>T (p.Lys1265Ter) n.8492A>T | |
18 | g.23928170A>C | CA402063095 | LAMA3 | c.3398A>C (p.Lys1133Thr) c.8225A>C (p.Lys2742Thr) c.4820A>C (p.Lys1607Thr) c.8057A>C (p.Lys2686Thr) c.3003A>C c.3230A>C (p.Lys1077Thr) n.2803A>C c.8252A>C (p.Lys2751Thr) c.8243A>C (p.Lys2748Thr) c.8234A>C (p.Lys2745Thr) c.8120A>C (p.Lys2707Thr) c.7955A>C (p.Lys2652Thr) c.6104A>C (p.Lys2035Thr) c.3794A>C (p.Lys1265Thr) n.8493A>C | |
18 | g.23928170A>G | CA402063099 | LAMA3 | c.3398A>G (p.Lys1133Arg) c.8225A>G (p.Lys2742Arg) c.4820A>G (p.Lys1607Arg) c.8057A>G (p.Lys2686Arg) c.3003A>G c.3230A>G (p.Lys1077Arg) n.2803A>G c.8252A>G (p.Lys2751Arg) c.8243A>G (p.Lys2748Arg) c.8234A>G (p.Lys2745Arg) c.8120A>G (p.Lys2707Arg) c.7955A>G (p.Lys2652Arg) c.6104A>G (p.Lys2035Arg) c.3794A>G (p.Lys1265Arg) n.8493A>G | |
18 | g.23928170A>T | CA402063097 | LAMA3 | c.3398A>T (p.Lys1133Met) c.8225A>T (p.Lys2742Met) c.4820A>T (p.Lys1607Met) c.8057A>T (p.Lys2686Met) c.3003A>T c.3230A>T (p.Lys1077Met) n.2803A>T c.8252A>T (p.Lys2751Met) c.8243A>T (p.Lys2748Met) c.8234A>T (p.Lys2745Met) c.8120A>T (p.Lys2707Met) c.7955A>T (p.Lys2652Met) c.6104A>T (p.Lys2035Met) c.3794A>T (p.Lys1265Met) n.8493A>T | |
18 | g.23928171G>A | CA503340631 | LAMA3 | c.3399G>A (p.Lys1133=) c.8226G>A (p.Lys2742=) c.4821G>A (p.Lys1607=) c.8058G>A (p.Lys2686=) c.3004G>A c.3231G>A (p.Lys1077=) n.2804G>A c.8253G>A (p.Lys2751=) c.8244G>A (p.Lys2748=) c.8235G>A (p.Lys2745=) c.8121G>A (p.Lys2707=) c.7956G>A (p.Lys2652=) c.6105G>A (p.Lys2035=) c.3795G>A (p.Lys1265=) n.8494G>A | |
18 | g.23928171G>C | CA402063100 | LAMA3 | c.3399G>C (p.Lys1133Asn) c.8226G>C (p.Lys2742Asn) c.4821G>C (p.Lys1607Asn) c.8058G>C (p.Lys2686Asn) c.3004G>C c.3231G>C (p.Lys1077Asn) n.2804G>C c.8253G>C (p.Lys2751Asn) c.8244G>C (p.Lys2748Asn) c.8235G>C (p.Lys2745Asn) c.8121G>C (p.Lys2707Asn) c.7956G>C (p.Lys2652Asn) c.6105G>C (p.Lys2035Asn) c.3795G>C (p.Lys1265Asn) n.8494G>C | |
18 | g.23928171G>T | CA402063101 | LAMA3 | c.3399G>T (p.Lys1133Asn) c.8226G>T (p.Lys2742Asn) c.4821G>T (p.Lys1607Asn) c.8058G>T (p.Lys2686Asn) c.3004G>T c.3231G>T (p.Lys1077Asn) n.2804G>T c.8253G>T (p.Lys2751Asn) c.8244G>T (p.Lys2748Asn) c.8235G>T (p.Lys2745Asn) c.8121G>T (p.Lys2707Asn) c.7956G>T (p.Lys2652Asn) c.6105G>T (p.Lys2035Asn) c.3795G>T (p.Lys1265Asn) n.8494G>T | |
18 | g.23928172A>C | CA402063103 | LAMA3 | c.3400A>C (p.Lys1134Gln) c.8227A>C (p.Lys2743Gln) c.4822A>C (p.Lys1608Gln) c.8059A>C (p.Lys2687Gln) c.3005A>C c.3232A>C (p.Lys1078Gln) n.2805A>C c.8254A>C (p.Lys2752Gln) c.8245A>C (p.Lys2749Gln) c.8236A>C (p.Lys2746Gln) c.8122A>C (p.Lys2708Gln) c.7957A>C (p.Lys2653Gln) c.6106A>C (p.Lys2036Gln) c.3796A>C (p.Lys1266Gln) n.8495A>C | |
18 | g.23928172A>G | CA402063106 | LAMA3 | c.3400A>G (p.Lys1134Glu) c.8227A>G (p.Lys2743Glu) c.4822A>G (p.Lys1608Glu) c.8059A>G (p.Lys2687Glu) c.3005A>G c.3232A>G (p.Lys1078Glu) n.2805A>G c.8254A>G (p.Lys2752Glu) c.8245A>G (p.Lys2749Glu) c.8236A>G (p.Lys2746Glu) c.8122A>G (p.Lys2708Glu) c.7957A>G (p.Lys2653Glu) c.6106A>G (p.Lys2036Glu) c.3796A>G (p.Lys1266Glu) n.8495A>G | |
18 | g.23928172A>T | CA402063108 | LAMA3 | c.3400A>T (p.Lys1134Ter) c.8227A>T (p.Lys2743Ter) c.4822A>T (p.Lys1608Ter) c.8059A>T (p.Lys2687Ter) c.3005A>T c.3232A>T (p.Lys1078Ter) n.2805A>T c.8254A>T (p.Lys2752Ter) c.8245A>T (p.Lys2749Ter) c.8236A>T (p.Lys2746Ter) c.8122A>T (p.Lys2708Ter) c.7957A>T (p.Lys2653Ter) c.6106A>T (p.Lys2036Ter) c.3796A>T (p.Lys1266Ter) n.8495A>T |