Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23907763T>ACA503337465LAMA3c.2016T>A (p.Ile672=)
c.6843T>A (p.Ile2281=)
c.3611-1390T>A (n.3611-1390T>A)
c.6675T>A (p.Ile2225=)
c.1621T>A
c.1848T>A (p.Ile616=)
n.1421T>A
c.6870T>A (p.Ile2290=)
c.6861T>A (p.Ile2287=)
c.6852T>A (p.Ile2284=)
c.6738T>A (p.Ile2246=)
c.6746-1390T>A (n.6746-1390T>A)
c.4722T>A (p.Ile1574=)
c.2412T>A (p.Ile804=)
n.7111T>A
18g.23907763T>CCA503337466LAMA3c.2016T>C (p.Ile672=)
c.6843T>C (p.Ile2281=)
c.3611-1390T>C (n.3611-1390T>C)
c.6675T>C (p.Ile2225=)
c.1621T>C
c.1848T>C (p.Ile616=)
n.1421T>C
c.6870T>C (p.Ile2290=)
c.6861T>C (p.Ile2287=)
c.6852T>C (p.Ile2284=)
c.6738T>C (p.Ile2246=)
c.6746-1390T>C (n.6746-1390T>C)
c.4722T>C (p.Ile1574=)
c.2412T>C (p.Ile804=)
n.7111T>C
 ClinVar
18g.23907763T>GCA402053009LAMA3c.2016T>G (p.Ile672Met)
c.6843T>G (p.Ile2281Met)
c.3611-1390T>G (n.3611-1390T>G)
c.6675T>G (p.Ile2225Met)
c.1621T>G
c.1848T>G (p.Ile616Met)
n.1421T>G
c.6870T>G (p.Ile2290Met)
c.6861T>G (p.Ile2287Met)
c.6852T>G (p.Ile2284Met)
c.6738T>G (p.Ile2246Met)
c.6746-1390T>G (n.6746-1390T>G)
c.4722T>G (p.Ile1574Met)
c.2412T>G (p.Ile804Met)
n.7111T>G
18g.23907767_23907774delCA2499225086LAMA3c.2020_2027del (p.Ala674GlnfsTer2)
c.6847_6854del (p.Ala2283GlnfsTer2)
c.3611-1386_3611-1379del (n.3611-1386_3611-1379del)
c.6679_6686del (p.Ala2227GlnfsTer2)
c.1625_1632del
c.1852_1859del (p.Ala618GlnfsTer2)
n.1425_1432del
c.6874_6881del (p.Ala2292GlnfsTer2)
c.6865_6872del (p.Ala2289GlnfsTer2)
c.6856_6863del (p.Ala2286GlnfsTer2)
c.6742_6749del (p.Ala2248GlnfsTer2)
c.6746-1386_6746-1379del (n.6746-1386_6746-1379del)
c.4726_4733del (p.Ala1576GlnfsTer2)
c.2416_2423del (p.Ala806GlnfsTer2)
n.7115_7122del
 ClinVar dbSNP
18g.23907764G>ACA402053011LAMA3c.2017G>A (p.Asp673Asn)
c.6844G>A (p.Asp2282Asn)
c.3611-1389G>A (n.3611-1389G>A)
c.6676G>A (p.Asp2226Asn)
c.1622G>A
c.1849G>A (p.Asp617Asn)
n.1422G>A
c.6871G>A (p.Asp2291Asn)
c.6862G>A (p.Asp2288Asn)
c.6853G>A (p.Asp2285Asn)
c.6739G>A (p.Asp2247Asn)
c.6746-1389G>A (n.6746-1389G>A)
c.4723G>A (p.Asp1575Asn)
c.2413G>A (p.Asp805Asn)
n.7112G>A
 dbSNP
18g.23907764G>CCA402053012LAMA3c.2017G>C (p.Asp673His)
c.6844G>C (p.Asp2282His)
c.3611-1389G>C (n.3611-1389G>C)
c.6676G>C (p.Asp2226His)
c.1622G>C
c.1849G>C (p.Asp617His)
n.1422G>C
c.6871G>C (p.Asp2291His)
c.6862G>C (p.Asp2288His)
c.6853G>C (p.Asp2285His)
c.6739G>C (p.Asp2247His)
c.6746-1389G>C (n.6746-1389G>C)
c.4723G>C (p.Asp1575His)
c.2413G>C (p.Asp805His)
n.7112G>C
18g.23907764G>TCA402053014LAMA3c.2017G>T (p.Asp673Tyr)
c.6844G>T (p.Asp2282Tyr)
c.3611-1389G>T (n.3611-1389G>T)
c.6676G>T (p.Asp2226Tyr)
c.1622G>T
c.1849G>T (p.Asp617Tyr)
n.1422G>T
c.6871G>T (p.Asp2291Tyr)
c.6862G>T (p.Asp2288Tyr)
c.6853G>T (p.Asp2285Tyr)
c.6739G>T (p.Asp2247Tyr)
c.6746-1389G>T (n.6746-1389G>T)
c.4723G>T (p.Asp1575Tyr)
c.2413G>T (p.Asp805Tyr)
n.7112G>T
18g.23907765A>CCA402053016LAMA3c.2018A>C (p.Asp673Ala)
c.6845A>C (p.Asp2282Ala)
c.3611-1388A>C (n.3611-1388A>C)
c.6677A>C (p.Asp2226Ala)
c.1623A>C
c.1850A>C (p.Asp617Ala)
n.1423A>C
c.6872A>C (p.Asp2291Ala)
c.6863A>C (p.Asp2288Ala)
c.6854A>C (p.Asp2285Ala)
c.6740A>C (p.Asp2247Ala)
c.6746-1388A>C (n.6746-1388A>C)
c.4724A>C (p.Asp1575Ala)
c.2414A>C (p.Asp805Ala)
n.7113A>C
18g.23907765A>GCA402053018LAMA3c.2018A>G (p.Asp673Gly)
c.6845A>G (p.Asp2282Gly)
c.3611-1388A>G (n.3611-1388A>G)
c.6677A>G (p.Asp2226Gly)
c.1623A>G
c.1850A>G (p.Asp617Gly)
n.1423A>G
c.6872A>G (p.Asp2291Gly)
c.6863A>G (p.Asp2288Gly)
c.6854A>G (p.Asp2285Gly)
c.6740A>G (p.Asp2247Gly)
c.6746-1388A>G (n.6746-1388A>G)
c.4724A>G (p.Asp1575Gly)
c.2414A>G (p.Asp805Gly)
n.7113A>G
18g.23907765A>TCA402053020LAMA3c.2018A>T (p.Asp673Val)
c.6845A>T (p.Asp2282Val)
c.3611-1388A>T (n.3611-1388A>T)
c.6677A>T (p.Asp2226Val)
c.1623A>T
c.1850A>T (p.Asp617Val)
n.1423A>T
c.6872A>T (p.Asp2291Val)
c.6863A>T (p.Asp2288Val)
c.6854A>T (p.Asp2285Val)
c.6740A>T (p.Asp2247Val)
c.6746-1388A>T (n.6746-1388A>T)
c.4724A>T (p.Asp1575Val)
c.2414A>T (p.Asp805Val)
n.7113A>T
18g.23907766T>ACA402053022LAMA3c.2019T>A (p.Asp673Glu)
c.6846T>A (p.Asp2282Glu)
c.3611-1387T>A (n.3611-1387T>A)
c.6678T>A (p.Asp2226Glu)
c.1624T>A
c.1851T>A (p.Asp617Glu)
n.1424T>A
c.6873T>A (p.Asp2291Glu)
c.6864T>A (p.Asp2288Glu)
c.6855T>A (p.Asp2285Glu)
c.6741T>A (p.Asp2247Glu)
c.6746-1387T>A (n.6746-1387T>A)
c.4725T>A (p.Asp1575Glu)
c.2415T>A (p.Asp805Glu)
n.7114T>A
18g.23907766T>CCA503337467LAMA3c.2019T>C (p.Asp673=)
c.6846T>C (p.Asp2282=)
c.3611-1387T>C (n.3611-1387T>C)
c.6678T>C (p.Asp2226=)
c.1624T>C
c.1851T>C (p.Asp617=)
n.1424T>C
c.6873T>C (p.Asp2291=)
c.6864T>C (p.Asp2288=)
c.6855T>C (p.Asp2285=)
c.6741T>C (p.Asp2247=)
c.6746-1387T>C (n.6746-1387T>C)
c.4725T>C (p.Asp1575=)
c.2415T>C (p.Asp805=)
n.7114T>C
 gnomAD v4
18g.23907766T>GCA402053023LAMA3c.2019T>G (p.Asp673Glu)
c.6846T>G (p.Asp2282Glu)
c.3611-1387T>G (n.3611-1387T>G)
c.6678T>G (p.Asp2226Glu)
c.1624T>G
c.1851T>G (p.Asp617Glu)
n.1424T>G
c.6873T>G (p.Asp2291Glu)
c.6864T>G (p.Asp2288Glu)
c.6855T>G (p.Asp2285Glu)
c.6741T>G (p.Asp2247Glu)
c.6746-1387T>G (n.6746-1387T>G)
c.4725T>G (p.Asp1575Glu)
c.2415T>G (p.Asp805Glu)
n.7114T>G
18g.23907767G>ACA402053028LAMA3c.2020G>A (p.Ala674Thr)
c.6847G>A (p.Ala2283Thr)
c.3611-1386G>A (n.3611-1386G>A)
c.6679G>A (p.Ala2227Thr)
c.1625G>A
c.1852G>A (p.Ala618Thr)
n.1425G>A
c.6874G>A (p.Ala2292Thr)
c.6865G>A (p.Ala2289Thr)
c.6856G>A (p.Ala2286Thr)
c.6742G>A (p.Ala2248Thr)
c.6746-1386G>A (n.6746-1386G>A)
c.4726G>A (p.Ala1576Thr)
c.2416G>A (p.Ala806Thr)
n.7115G>A
 dbSNP gnomAD v3 gnomAD v4
18g.23907767G>CCA402053029LAMA3c.2020G>C (p.Ala674Pro)
c.6847G>C (p.Ala2283Pro)
c.3611-1386G>C (n.3611-1386G>C)
c.6679G>C (p.Ala2227Pro)
c.1625G>C
c.1852G>C (p.Ala618Pro)
n.1425G>C
c.6874G>C (p.Ala2292Pro)
c.6865G>C (p.Ala2289Pro)
c.6856G>C (p.Ala2286Pro)
c.6742G>C (p.Ala2248Pro)
c.6746-1386G>C (n.6746-1386G>C)
c.4726G>C (p.Ala1576Pro)
c.2416G>C (p.Ala806Pro)
n.7115G>C
18g.23907767G=CA2290325973LAMA3c.2020G= (p.Ala674=)
c.6847G= (p.Ala2283=)
c.3611-1386G= (n.3611-1386G=)
c.6679G= (p.Ala2227=)
c.1625G=
c.1852G= (p.Ala618=)
n.1425G=
c.6874G= (p.Ala2292=)
c.6865G= (p.Ala2289=)
c.6856G= (p.Ala2286=)
c.6742G= (p.Ala2248=)
c.6746-1386G= (n.6746-1386G=)
c.4726G= (p.Ala1576=)
c.2416G= (p.Ala806=)
n.7115G=
18g.23907767G>TCA402053026LAMA3c.2020G>T (p.Ala674Ser)
c.6847G>T (p.Ala2283Ser)
c.3611-1386G>T (n.3611-1386G>T)
c.6679G>T (p.Ala2227Ser)
c.1625G>T
c.1852G>T (p.Ala618Ser)
n.1425G>T
c.6874G>T (p.Ala2292Ser)
c.6865G>T (p.Ala2289Ser)
c.6856G>T (p.Ala2286Ser)
c.6742G>T (p.Ala2248Ser)
c.6746-1386G>T (n.6746-1386G>T)
c.4726G>T (p.Ala1576Ser)
c.2416G>T (p.Ala806Ser)
n.7115G>T
18g.23907768C>ACA402053031LAMA3c.2021C>A (p.Ala674Asp)
c.6848C>A (p.Ala2283Asp)
c.3611-1385C>A (n.3611-1385C>A)
c.6680C>A (p.Ala2227Asp)
c.1626C>A
c.1853C>A (p.Ala618Asp)
n.1426C>A
c.6875C>A (p.Ala2292Asp)
c.6866C>A (p.Ala2289Asp)
c.6857C>A (p.Ala2286Asp)
c.6743C>A (p.Ala2248Asp)
c.6746-1385C>A (n.6746-1385C>A)
c.4727C>A (p.Ala1576Asp)
c.2417C>A (p.Ala806Asp)
n.7116C>A
 gnomAD v4
18g.23907768C>GCA402053034LAMA3c.2021C>G (p.Ala674Gly)
c.6848C>G (p.Ala2283Gly)
c.3611-1385C>G (n.3611-1385C>G)
c.6680C>G (p.Ala2227Gly)
c.1626C>G
c.1853C>G (p.Ala618Gly)
n.1426C>G
c.6875C>G (p.Ala2292Gly)
c.6866C>G (p.Ala2289Gly)
c.6857C>G (p.Ala2286Gly)
c.6743C>G (p.Ala2248Gly)
c.6746-1385C>G (n.6746-1385C>G)
c.4727C>G (p.Ala1576Gly)
c.2417C>G (p.Ala806Gly)
n.7116C>G
18g.23907768C>TCA402053035LAMA3c.2021C>T (p.Ala674Val)
c.6848C>T (p.Ala2283Val)
c.3611-1385C>T (n.3611-1385C>T)
c.6680C>T (p.Ala2227Val)
c.1626C>T
c.1853C>T (p.Ala618Val)
n.1426C>T
c.6875C>T (p.Ala2292Val)
c.6866C>T (p.Ala2289Val)
c.6857C>T (p.Ala2286Val)
c.6743C>T (p.Ala2248Val)
c.6746-1385C>T (n.6746-1385C>T)
c.4727C>T (p.Ala1576Val)
c.2417C>T (p.Ala806Val)
n.7116C>T
18g.23907769T>ACA503337468LAMA3c.2022T>A (p.Ala674=)
c.6849T>A (p.Ala2283=)
c.3611-1384T>A (n.3611-1384T>A)
c.6681T>A (p.Ala2227=)
c.1627T>A
c.1854T>A (p.Ala618=)
n.1427T>A
c.6876T>A (p.Ala2292=)
c.6867T>A (p.Ala2289=)
c.6858T>A (p.Ala2286=)
c.6744T>A (p.Ala2248=)
c.6746-1384T>A (n.6746-1384T>A)
c.4728T>A (p.Ala1576=)
c.2418T>A (p.Ala806=)
n.7117T>A
18g.23907769T>CCA503337469LAMA3c.2022T>C (p.Ala674=)
c.6849T>C (p.Ala2283=)
c.3611-1384T>C (n.3611-1384T>C)
c.6681T>C (p.Ala2227=)
c.1627T>C
c.1854T>C (p.Ala618=)
n.1427T>C
c.6876T>C (p.Ala2292=)
c.6867T>C (p.Ala2289=)
c.6858T>C (p.Ala2286=)
c.6744T>C (p.Ala2248=)
c.6746-1384T>C (n.6746-1384T>C)
c.4728T>C (p.Ala1576=)
c.2418T>C (p.Ala806=)
n.7117T>C
18g.23907769T>GCA503337470LAMA3c.2022T>G (p.Ala674=)
c.6849T>G (p.Ala2283=)
c.3611-1384T>G (n.3611-1384T>G)
c.6681T>G (p.Ala2227=)
c.1627T>G
c.1854T>G (p.Ala618=)
n.1427T>G
c.6876T>G (p.Ala2292=)
c.6867T>G (p.Ala2289=)
c.6858T>G (p.Ala2286=)
c.6744T>G (p.Ala2248=)
c.6746-1384T>G (n.6746-1384T>G)
c.4728T>G (p.Ala1576=)
c.2418T>G (p.Ala806=)
n.7117T>G
18g.23907770A>CCA402053038LAMA3c.2023A>C (p.Met675Leu)
c.6850A>C (p.Met2284Leu)
c.3611-1383A>C (n.3611-1383A>C)
c.6682A>C (p.Met2228Leu)
c.1628A>C
c.1855A>C (p.Met619Leu)
n.1428A>C
c.6877A>C (p.Met2293Leu)
c.6868A>C (p.Met2290Leu)
c.6859A>C (p.Met2287Leu)
c.6745A>C (p.Met2249Leu)
c.6746-1383A>C (n.6746-1383A>C)
c.4729A>C (p.Met1577Leu)
c.2419A>C (p.Met807Leu)
n.7118A>C
18g.23907770A>GCA402053039LAMA3c.2023A>G (p.Met675Val)
c.6850A>G (p.Met2284Val)
c.3611-1383A>G (n.3611-1383A>G)
c.6682A>G (p.Met2228Val)
c.1628A>G
c.1855A>G (p.Met619Val)
n.1428A>G
c.6877A>G (p.Met2293Val)
c.6868A>G (p.Met2290Val)
c.6859A>G (p.Met2287Val)
c.6745A>G (p.Met2249Val)
c.6746-1383A>G (n.6746-1383A>G)
c.4729A>G (p.Met1577Val)
c.2419A>G (p.Met807Val)
n.7118A>G
18g.23907770A>TCA402053040LAMA3c.2023A>T (p.Met675Leu)
c.6850A>T (p.Met2284Leu)
c.3611-1383A>T (n.3611-1383A>T)
c.6682A>T (p.Met2228Leu)
c.1628A>T
c.1855A>T (p.Met619Leu)
n.1428A>T
c.6877A>T (p.Met2293Leu)
c.6868A>T (p.Met2290Leu)
c.6859A>T (p.Met2287Leu)
c.6745A>T (p.Met2249Leu)
c.6746-1383A>T (n.6746-1383A>T)
c.4729A>T (p.Met1577Leu)
c.2419A>T (p.Met807Leu)
n.7118A>T
18g.23907771T>ACA402053045LAMA3c.2024T>A (p.Met675Lys)
c.6851T>A (p.Met2284Lys)
c.3611-1382T>A (n.3611-1382T>A)
c.6683T>A (p.Met2228Lys)
c.1629T>A
c.1856T>A (p.Met619Lys)
n.1429T>A
c.6878T>A (p.Met2293Lys)
c.6869T>A (p.Met2290Lys)
c.6860T>A (p.Met2287Lys)
c.6746T>A (p.Met2249Lys)
c.6746-1382T>A (n.6746-1382T>A)
c.4730T>A (p.Met1577Lys)
c.2420T>A (p.Met807Lys)
n.7119T>A
18g.23907771T>CCA8916506LAMA3c.2024T>C (p.Met675Thr)
c.6851T>C (p.Met2284Thr)
c.3611-1382T>C (n.3611-1382T>C)
c.6683T>C (p.Met2228Thr)
c.1629T>C
c.1856T>C (p.Met619Thr)
n.1429T>C
c.6878T>C (p.Met2293Thr)
c.6869T>C (p.Met2290Thr)
c.6860T>C (p.Met2287Thr)
c.6746T>C (p.Met2249Thr)
c.6746-1382T>C (n.6746-1382T>C)
c.4730T>C (p.Met1577Thr)
c.2420T>C (p.Met807Thr)
n.7119T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23907771T>GCA402053043LAMA3c.2024T>G (p.Met675Arg)
c.6851T>G (p.Met2284Arg)
c.3611-1382T>G (n.3611-1382T>G)
c.6683T>G (p.Met2228Arg)
c.1629T>G
c.1856T>G (p.Met619Arg)
n.1429T>G
c.6878T>G (p.Met2293Arg)
c.6869T>G (p.Met2290Arg)
c.6860T>G (p.Met2287Arg)
c.6746T>G (p.Met2249Arg)
c.6746-1382T>G (n.6746-1382T>G)
c.4730T>G (p.Met1577Arg)
c.2420T>G (p.Met807Arg)
n.7119T>G
 gnomAD v4
18g.23907771T=CA2290325974LAMA3c.2024T= (p.Met675=)
c.6851T= (p.Met2284=)
c.3611-1382T= (n.3611-1382T=)
c.6683T= (p.Met2228=)
c.1629T=
c.1856T= (p.Met619=)
n.1429T=
c.6878T= (p.Met2293=)
c.6869T= (p.Met2290=)
c.6860T= (p.Met2287=)
c.6746T= (p.Met2249=)
c.6746-1382T= (n.6746-1382T=)
c.4730T= (p.Met1577=)
c.2420T= (p.Met807=)
n.7119T=
18g.23907772G>ACA402053047LAMA3c.2025G>A (p.Met675Ile)
c.6852G>A (p.Met2284Ile)
c.3611-1381G>A (n.3611-1381G>A)
c.6684G>A (p.Met2228Ile)
c.1630G>A
c.1857G>A (p.Met619Ile)
n.1430G>A
c.6879G>A (p.Met2293Ile)
c.6870G>A (p.Met2290Ile)
c.6861G>A (p.Met2287Ile)
c.6747G>A (p.Met2249Ile)
c.6746-1381G>A (n.6746-1381G>A)
c.4731G>A (p.Met1577Ile)
c.2421G>A (p.Met807Ile)
n.7120G>A
18g.23907772G>CCA402053048LAMA3c.2025G>C (p.Met675Ile)
c.6852G>C (p.Met2284Ile)
c.3611-1381G>C (n.3611-1381G>C)
c.6684G>C (p.Met2228Ile)
c.1630G>C
c.1857G>C (p.Met619Ile)
n.1430G>C
c.6879G>C (p.Met2293Ile)
c.6870G>C (p.Met2290Ile)
c.6861G>C (p.Met2287Ile)
c.6747G>C (p.Met2249Ile)
c.6746-1381G>C (n.6746-1381G>C)
c.4731G>C (p.Met1577Ile)
c.2421G>C (p.Met807Ile)
n.7120G>C
 gnomAD v4
18g.23907772G=CA2290325975LAMA3c.2025G= (p.Met675=)
c.6852G= (p.Met2284=)
c.3611-1381G= (n.3611-1381G=)
c.6684G= (p.Met2228=)
c.1630G=
c.1857G= (p.Met619=)
n.1430G=
c.6879G= (p.Met2293=)
c.6870G= (p.Met2290=)
c.6861G= (p.Met2287=)
c.6747G= (p.Met2249=)
c.6746-1381G= (n.6746-1381G=)
c.4731G= (p.Met1577=)
c.2421G= (p.Met807=)
n.7120G=
18g.23907772G>TCA402053050LAMA3c.2025G>T (p.Met675Ile)
c.6852G>T (p.Met2284Ile)
c.3611-1381G>T (n.3611-1381G>T)
c.6684G>T (p.Met2228Ile)
c.1630G>T
c.1857G>T (p.Met619Ile)
n.1430G>T
c.6879G>T (p.Met2293Ile)
c.6870G>T (p.Met2290Ile)
c.6861G>T (p.Met2287Ile)
c.6747G>T (p.Met2249Ile)
c.6746-1381G>T (n.6746-1381G>T)
c.4731G>T (p.Met1577Ile)
c.2421G>T (p.Met807Ile)
n.7120G>T
 dbSNP gnomAD v4
18g.23907773A>CCA402053052LAMA3c.2026A>C (p.Ile676Leu)
c.6853A>C (p.Ile2285Leu)
c.3611-1380A>C (n.3611-1380A>C)
c.6685A>C (p.Ile2229Leu)
c.1631A>C
c.1858A>C (p.Ile620Leu)
n.1431A>C
c.6880A>C (p.Ile2294Leu)
c.6871A>C (p.Ile2291Leu)
c.6862A>C (p.Ile2288Leu)
c.6748A>C (p.Ile2250Leu)
c.6746-1380A>C (n.6746-1380A>C)
c.4732A>C (p.Ile1578Leu)
c.2422A>C (p.Ile808Leu)
n.7121A>C
18g.23907773A>GCA402053053LAMA3c.2026A>G (p.Ile676Val)
c.6853A>G (p.Ile2285Val)
c.3611-1380A>G (n.3611-1380A>G)
c.6685A>G (p.Ile2229Val)
c.1631A>G
c.1858A>G (p.Ile620Val)
n.1431A>G
c.6880A>G (p.Ile2294Val)
c.6871A>G (p.Ile2291Val)
c.6862A>G (p.Ile2288Val)
c.6748A>G (p.Ile2250Val)
c.6746-1380A>G (n.6746-1380A>G)
c.4732A>G (p.Ile1578Val)
c.2422A>G (p.Ile808Val)
n.7121A>G
 gnomAD v4
18g.23907773A>TCA402053056LAMA3c.2026A>T (p.Ile676Phe)
c.6853A>T (p.Ile2285Phe)
c.3611-1380A>T (n.3611-1380A>T)
c.6685A>T (p.Ile2229Phe)
c.1631A>T
c.1858A>T (p.Ile620Phe)
n.1431A>T
c.6880A>T (p.Ile2294Phe)
c.6871A>T (p.Ile2291Phe)
c.6862A>T (p.Ile2288Phe)
c.6748A>T (p.Ile2250Phe)
c.6746-1380A>T (n.6746-1380A>T)
c.4732A>T (p.Ile1578Phe)
c.2422A>T (p.Ile808Phe)
n.7121A>T
18g.23907774T>ACA402053059LAMA3c.2027T>A (p.Ile676Asn)
c.6854T>A (p.Ile2285Asn)
c.3611-1379T>A (n.3611-1379T>A)
c.6686T>A (p.Ile2229Asn)
c.1632T>A
c.1859T>A (p.Ile620Asn)
n.1432T>A
c.6881T>A (p.Ile2294Asn)
c.6872T>A (p.Ile2291Asn)
c.6863T>A (p.Ile2288Asn)
c.6749T>A (p.Ile2250Asn)
c.6746-1379T>A (n.6746-1379T>A)
c.4733T>A (p.Ile1578Asn)
c.2423T>A (p.Ile808Asn)
n.7122T>A
18g.23907774T>CCA402053061LAMA3c.2027T>C (p.Ile676Thr)
c.6854T>C (p.Ile2285Thr)
c.3611-1379T>C (n.3611-1379T>C)
c.6686T>C (p.Ile2229Thr)
c.1632T>C
c.1859T>C (p.Ile620Thr)
n.1432T>C
c.6881T>C (p.Ile2294Thr)
c.6872T>C (p.Ile2291Thr)
c.6863T>C (p.Ile2288Thr)
c.6749T>C (p.Ile2250Thr)
c.6746-1379T>C (n.6746-1379T>C)
c.4733T>C (p.Ile1578Thr)
c.2423T>C (p.Ile808Thr)
n.7122T>C
18g.23907774T>GCA402053057LAMA3c.2027T>G (p.Ile676Ser)
c.6854T>G (p.Ile2285Ser)
c.3611-1379T>G (n.3611-1379T>G)
c.6686T>G (p.Ile2229Ser)
c.1632T>G
c.1859T>G (p.Ile620Ser)
n.1432T>G
c.6881T>G (p.Ile2294Ser)
c.6872T>G (p.Ile2291Ser)
c.6863T>G (p.Ile2288Ser)
c.6749T>G (p.Ile2250Ser)
c.6746-1379T>G (n.6746-1379T>G)
c.4733T>G (p.Ile1578Ser)
c.2423T>G (p.Ile808Ser)
n.7122T>G
18g.23907775C>ACA503337471LAMA3c.2028C>A (p.Ile676=)
c.6855C>A (p.Ile2285=)
c.3611-1378C>A (n.3611-1378C>A)
c.6687C>A (p.Ile2229=)
c.1633C>A
c.1860C>A (p.Ile620=)
n.1433C>A
c.6882C>A (p.Ile2294=)
c.6873C>A (p.Ile2291=)
c.6864C>A (p.Ile2288=)
c.6750C>A (p.Ile2250=)
c.6746-1378C>A (n.6746-1378C>A)
c.4734C>A (p.Ile1578=)
c.2424C>A (p.Ile808=)
n.7123C>A
18g.23907775C>GCA402053063LAMA3c.2028C>G (p.Ile676Met)
c.6855C>G (p.Ile2285Met)
c.3611-1378C>G (n.3611-1378C>G)
c.6687C>G (p.Ile2229Met)
c.1633C>G
c.1860C>G (p.Ile620Met)
n.1433C>G
c.6882C>G (p.Ile2294Met)
c.6873C>G (p.Ile2291Met)
c.6864C>G (p.Ile2288Met)
c.6750C>G (p.Ile2250Met)
c.6746-1378C>G (n.6746-1378C>G)
c.4734C>G (p.Ile1578Met)
c.2424C>G (p.Ile808Met)
n.7123C>G
18g.23907775C>TCA503337472LAMA3c.2028C>T (p.Ile676=)
c.6855C>T (p.Ile2285=)
c.3611-1378C>T (n.3611-1378C>T)
c.6687C>T (p.Ile2229=)
c.1633C>T
c.1860C>T (p.Ile620=)
n.1433C>T
c.6882C>T (p.Ile2294=)
c.6873C>T (p.Ile2291=)
c.6864C>T (p.Ile2288=)
c.6750C>T (p.Ile2250=)
c.6746-1378C>T (n.6746-1378C>T)
c.4734C>T (p.Ile1578=)
c.2424C>T (p.Ile808=)
n.7123C>T
18g.23907776A=CA2290325976LAMA3c.2029A= (p.Ser677=)
c.6856A= (p.Ser2286=)
c.3611-1377A= (n.3611-1377A=)
c.6688A= (p.Ser2230=)
c.1634A=
c.1861A= (p.Ser621=)
n.1434A=
c.6883A= (p.Ser2295=)
c.6874A= (p.Ser2292=)
c.6865A= (p.Ser2289=)
c.6751A= (p.Ser2251=)
c.6746-1377A= (n.6746-1377A=)
c.4735A= (p.Ser1579=)
c.2425A= (p.Ser809=)
n.7124A=
18g.23907776A>CCA402053065LAMA3c.2029A>C (p.Ser677Arg)
c.6856A>C (p.Ser2286Arg)
c.3611-1377A>C (n.3611-1377A>C)
c.6688A>C (p.Ser2230Arg)
c.1634A>C
c.1861A>C (p.Ser621Arg)
n.1434A>C
c.6883A>C (p.Ser2295Arg)
c.6874A>C (p.Ser2292Arg)
c.6865A>C (p.Ser2289Arg)
c.6751A>C (p.Ser2251Arg)
c.6746-1377A>C (n.6746-1377A>C)
c.4735A>C (p.Ser1579Arg)
c.2425A>C (p.Ser809Arg)
n.7124A>C
 dbSNP gnomAD v3 gnomAD v4
18g.23907776A>GCA402053069LAMA3c.2029A>G (p.Ser677Gly)
c.6856A>G (p.Ser2286Gly)
c.3611-1377A>G (n.3611-1377A>G)
c.6688A>G (p.Ser2230Gly)
c.1634A>G
c.1861A>G (p.Ser621Gly)
n.1434A>G
c.6883A>G (p.Ser2295Gly)
c.6874A>G (p.Ser2292Gly)
c.6865A>G (p.Ser2289Gly)
c.6751A>G (p.Ser2251Gly)
c.6746-1377A>G (n.6746-1377A>G)
c.4735A>G (p.Ser1579Gly)
c.2425A>G (p.Ser809Gly)
n.7124A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23907776A>TCA402053067LAMA3c.2029A>T (p.Ser677Cys)
c.6856A>T (p.Ser2286Cys)
c.3611-1377A>T (n.3611-1377A>T)
c.6688A>T (p.Ser2230Cys)
c.1634A>T
c.1861A>T (p.Ser621Cys)
n.1434A>T
c.6883A>T (p.Ser2295Cys)
c.6874A>T (p.Ser2292Cys)
c.6865A>T (p.Ser2289Cys)
c.6751A>T (p.Ser2251Cys)
c.6746-1377A>T (n.6746-1377A>T)
c.4735A>T (p.Ser1579Cys)
c.2425A>T (p.Ser809Cys)
n.7124A>T
18g.23907777G>ACA402053071LAMA3c.2030G>A (p.Ser677Asn)
c.6857G>A (p.Ser2286Asn)
c.3611-1376G>A (n.3611-1376G>A)
c.6689G>A (p.Ser2230Asn)
c.1635G>A
c.1862G>A (p.Ser621Asn)
n.1435G>A
c.6884G>A (p.Ser2295Asn)
c.6875G>A (p.Ser2292Asn)
c.6866G>A (p.Ser2289Asn)
c.6752G>A (p.Ser2251Asn)
c.6746-1376G>A (n.6746-1376G>A)
c.4736G>A (p.Ser1579Asn)
c.2426G>A (p.Ser809Asn)
n.7125G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23907777G>CCA297104761LAMA3c.2030G>C (p.Ser677Thr)
c.6857G>C (p.Ser2286Thr)
c.3611-1376G>C (n.3611-1376G>C)
c.6689G>C (p.Ser2230Thr)
c.1635G>C
c.1862G>C (p.Ser621Thr)
n.1435G>C
c.6884G>C (p.Ser2295Thr)
c.6875G>C (p.Ser2292Thr)
c.6866G>C (p.Ser2289Thr)
c.6752G>C (p.Ser2251Thr)
c.6746-1376G>C (n.6746-1376G>C)
c.4736G>C (p.Ser1579Thr)
c.2426G>C (p.Ser809Thr)
n.7125G>C
 dbSNP gnomAD v4
18g.23907777G=CA2290325977LAMA3c.2030G= (p.Ser677=)
c.6857G= (p.Ser2286=)
c.3611-1376G= (n.3611-1376G=)
c.6689G= (p.Ser2230=)
c.1635G=
c.1862G= (p.Ser621=)
n.1435G=
c.6884G= (p.Ser2295=)
c.6875G= (p.Ser2292=)
c.6866G= (p.Ser2289=)
c.6752G= (p.Ser2251=)
c.6746-1376G= (n.6746-1376G=)
c.4736G= (p.Ser1579=)
c.2426G= (p.Ser809=)
n.7125G=

Number of alleles fetched