| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49122724_49122767delinsCTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTG | CA1363339528 | LAMB2 | c.4510_4553delinsCAGGTGGAACAGGCCAACCAGGAACTTCAAGAACTTATCCAGAG (p.Gln1504=) n.819_862delinsCAGGTGGAACAGGCCAACCAGGAACTTCAAGAACTTATCCAGAG | |
| 3 | g.49122727_49122769del | CA916082573 | LAMB2 | c.4510_4552del (p.Gln1504ValfsTer2) n.819_861del | ClinVar dbSNP |
| 3 | g.49122759T>A | CA352691923 | LAMB2 | c.4518A>T (p.Glu1506Asp) n.827A>T | |
| 3 | g.49122759T>C | CA433634005 | LAMB2 | c.4518A>G (p.Glu1506=) n.827A>G | |
| 3 | g.49122759T>G | CA352691926 | LAMB2 | c.4518A>C (p.Glu1506Asp) n.827A>C | gnomAD v4 |
| 3 | g.49122760T>A | CA352691933 | LAMB2 | c.4517A>T (p.Glu1506Val) n.826A>T | |
| 3 | g.49122760T>C | CA352691935 | LAMB2 | c.4517A>G (p.Glu1506Gly) n.826A>G | gnomAD v4 |
| 3 | g.49122760T>G | CA352691947 | LAMB2 | c.4517A>C (p.Glu1506Ala) n.826A>C | |
| 3 | g.49122761C>A | CA352691961 | LAMB2 | c.4516G>T (p.Glu1506Ter) n.825G>T | |
| 3 | g.49122761C= | CA1363339561 | LAMB2 | c.4516G= (p.Glu1506=) n.825G= | |
| 3 | g.49122761C>G | CA352691957 | LAMB2 | c.4516G>C (p.Glu1506Gln) n.825G>C | |
| 3 | g.49122761C>T | CA352691954 | LAMB2 | c.4516G>A (p.Glu1506Lys) n.825G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122762C>A | CA433634006 | LAMB2 | c.4515G>T (p.Val1505=) n.824G>T | |
| 3 | g.49122762C= | CA1363339563 | LAMB2 | c.4515G= (p.Val1505=) n.824G= | |
| 3 | g.49122762C>G | CA433634007 | LAMB2 | c.4515G>C (p.Val1505=) n.824G>C | |
| 3 | g.49122762C>T | CA433634008 | LAMB2 | c.4515G>A (p.Val1505=) n.824G>A | dbSNP |
| 3 | g.49122763A= | CA1363339566 | LAMB2 | c.4514T= (p.Val1505=) n.823T= | |
| 3 | g.49122763A>C | CA352691964 | LAMB2 | c.4514T>G (p.Val1505Gly) n.823T>G | dbSNP |
| 3 | g.49122763A>G | CA352691968 | LAMB2 | c.4514T>C (p.Val1505Ala) n.823T>C | |
| 3 | g.49122763A>T | CA352691974 | LAMB2 | c.4514T>A (p.Val1505Glu) n.823T>A | |
| 3 | g.49122764C>A | CA352691999 | LAMB2 | c.4513G>T (p.Val1505Leu) n.822G>T | |
| 3 | g.49122764C>G | CA352692010 | LAMB2 | c.4513G>C (p.Val1505Leu) n.822G>C | |
| 3 | g.49122764C>T | CA352692028 | LAMB2 | c.4513G>A (p.Val1505Met) n.822G>A | |
| 3 | g.49122765C>A | CA352692042 | LAMB2 | c.4512G>T (p.Gln1504His) n.821G>T | |
| 3 | g.49122765C= | CA1363339567 | LAMB2 | c.4512G= (p.Gln1504=) n.821G= | |
| 3 | g.49122765C>G | CA352692035 | LAMB2 | c.4512G>C (p.Gln1504His) n.821G>C | |
| 3 | g.49122765C>T | CA433634009 | LAMB2 | c.4512G>A (p.Gln1504=) n.821G>A | dbSNP |
| 3 | g.49122766T>A | CA352692061 | LAMB2 | c.4511A>T (p.Gln1504Leu) n.820A>T | |
| 3 | g.49122766T>C | CA352692075 | LAMB2 | c.4511A>G (p.Gln1504Arg) n.820A>G | |
| 3 | g.49122766T>G | CA352692081 | LAMB2 | c.4511A>C (p.Gln1504Pro) n.820A>C | |
| 3 | g.49122767G>A | CA352692085 | LAMB2 | c.4510C>T (p.Gln1504Ter) n.819C>T | |
| 3 | g.49122767G>C | CA352692089 | LAMB2 | c.4510C>G (p.Gln1504Glu) n.819C>G | |
| 3 | g.49122767G>T | CA352692096 | LAMB2 | c.4510C>A (p.Gln1504Lys) n.819C>A | |
| 3 | g.49122768T>A | CA433634010 | LAMB2 | c.4509A>T (p.Gly1503=) n.818A>T | |
| 3 | g.49122768T>C | CA433634011 | LAMB2 | c.4509A>G (p.Gly1503=) n.818A>G | |
| 3 | g.49122768T>G | CA433634012 | LAMB2 | c.4509A>C (p.Gly1503=) n.818A>C | |
| 3 | g.49122769C>A | CA352692102 | LAMB2 | c.4508G>T (p.Gly1503Val) n.817G>T | |
| 3 | g.49122769C= | CA1363339568 | LAMB2 | c.4508G= (p.Gly1503=) n.817G= | |
| 3 | g.49122769C>G | CA352692100 | LAMB2 | c.4508G>C (p.Gly1503Ala) n.817G>C | dbSNP gnomAD v4 |
| 3 | g.49122769C>T | CA352692101 | LAMB2 | c.4508G>A (p.Gly1503Glu) n.817G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122770C>A | CA352692105 | LAMB2 | c.4507G>T (p.Gly1503Ter) n.816G>T | |
| 3 | g.49122770C= | CA1363339570 | LAMB2 | c.4507G= (p.Gly1503=) n.816G= | |
| 3 | g.49122770C>G | CA74476296 | LAMB2 | c.4507G>C (p.Gly1503Arg) n.816G>C | dbSNP gnomAD v4 |
| 3 | g.49122770C>T | CA352692113 | LAMB2 | c.4507G>A (p.Gly1503Arg) n.816G>A | |
| 3 | g.49122771C>A | CA352692136 | LAMB2 | c.4506G>T (p.Arg1502Ser) n.815G>T | |
| 3 | g.49122771C>G | CA352692147 | LAMB2 | c.4506G>C (p.Arg1502Ser) n.815G>C | gnomAD v4 |
| 3 | g.49122771C>T | CA433634016 | LAMB2 | c.4506G>A (p.Arg1502=) n.815G>A | gnomAD v4 |
| 3 | g.49122772C>A | CA352692149 | LAMB2 | c.4505G>T (p.Arg1502Met) n.814G>T | |
| 3 | g.49122772C>G | CA352692150 | LAMB2 | c.4505G>C (p.Arg1502Thr) n.814G>C | |
| 3 | g.49122772C>T | CA352692151 | LAMB2 | c.4505G>A (p.Arg1502Lys) n.814G>A | ClinVar gnomAD v4 |
| 3 | g.49122773del | CA2573050970 | LAMB2 | c.4504del (p.Arg1502GlyfsTer18) n.813del | gnomAD v4 |
| 3 | g.49122773T>A | CA352692156 | LAMB2 | c.4504A>T (p.Arg1502Trp) n.813A>T | |
| 3 | g.49122773T>C | CA352692159 | LAMB2 | c.4504A>G (p.Arg1502Gly) n.813A>G | |
| 3 | g.49122773T>G | CA433634018 | LAMB2 | c.4504A>C (p.Arg1502=) n.813A>C | dbSNP |
| 3 | g.49122773T= | CA1363339573 | LAMB2 | c.4504A= (p.Arg1502=) n.813A= | |
| 3 | g.49122774G>A | CA433634019 | LAMB2 | c.4503C>T (p.Ser1501=) n.812C>T | |
| 3 | g.49122774G>C | CA433634020 | LAMB2 | c.4503C>G (p.Ser1501=) n.812C>G | |
| 3 | g.49122774G>T | CA433634021 | LAMB2 | c.4503C>A (p.Ser1501=) n.812C>A | |
| 3 | g.49122775G>A | CA352692169 | LAMB2 | c.4502C>T (p.Ser1501Phe) n.811C>T | |
| 3 | g.49122775G>C | CA352692191 | LAMB2 | c.4502C>G (p.Ser1501Cys) n.811C>G | |
| 3 | g.49122775G>T | CA352692194 | LAMB2 | c.4502C>A (p.Ser1501Tyr) n.811C>A | |
| 3 | g.49122776A>C | CA352692200 | LAMB2 | c.4501T>G (p.Ser1501Ala) n.810T>G | |
| 3 | g.49122776A>G | CA352692205 | LAMB2 | c.4501T>C (p.Ser1501Pro) n.810T>C | |
| 3 | g.49122776A>T | CA352692202 | LAMB2 | c.4501T>A (p.Ser1501Thr) n.810T>A | |
| 3 | g.49122777A>C | CA433634023 | LAMB2 | c.4500T>G (p.Ala1500=) n.809T>G | |
| 3 | g.49122777A>G | CA433634024 | LAMB2 | c.4500T>C (p.Ala1500=) n.809T>C | |
| 3 | g.49122777A>T | CA433634025 | LAMB2 | c.4500T>A (p.Ala1500=) n.809T>A | |
| 3 | g.49122778G>A | CA352692220 | LAMB2 | c.4499C>T (p.Ala1500Val) n.808C>T | gnomAD v4 |
| 3 | g.49122778G>C | CA352692222 | LAMB2 | c.4499C>G (p.Ala1500Gly) n.808C>G | |
| 3 | g.49122778G>T | CA352692224 | LAMB2 | c.4499C>A (p.Ala1500Asp) n.808C>A | |
| 3 | g.49122779C>A | CA74476310 | LAMB2 | c.4498G>T (p.Ala1500Ser) n.807G>T | dbSNP gnomAD v4 |
| 3 | g.49122779C= | CA1363339575 | LAMB2 | c.4498G= (p.Ala1500=) n.807G= | |
| 3 | g.49122779C>G | CA352692239 | LAMB2 | c.4498G>C (p.Ala1500Pro) n.807G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.49122779C>T | CA352692240 | LAMB2 | c.4498G>A (p.Ala1500Thr) n.807G>A | |
| 3 | g.49122780A>C | CA352692257 | LAMB2 | c.4497T>G (p.Asn1499Lys) n.806T>G | |
| 3 | g.49122780A>G | CA433634028 | LAMB2 | c.4497T>C (p.Asn1499=) n.806T>C | |
| 3 | g.49122780A>T | CA352692256 | LAMB2 | c.4497T>A (p.Asn1499Lys) n.806T>A | |
| 3 | g.49122781T>A | CA74476311 | LAMB2 | c.4496A>T (p.Asn1499Ile) n.805A>T | dbSNP |
| 3 | g.49122781T>C | CA352692263 | LAMB2 | c.4496A>G (p.Asn1499Ser) n.805A>G | dbSNP gnomAD v4 |
| 3 | g.49122781T>G | CA352692268 | LAMB2 | c.4496A>C (p.Asn1499Thr) n.805A>C | |
| 3 | g.49122781T= | CA1363339577 | LAMB2 | c.4496A= (p.Asn1499=) n.805A= | |
| 3 | g.49122782T>A | CA352692274 | LAMB2 | c.4495A>T (p.Asn1499Tyr) n.804A>T | |
| 3 | g.49122782T>C | CA352692275 | LAMB2 | c.4495A>G (p.Asn1499Asp) n.804A>G | |
| 3 | g.49122782T>G | CA352692276 | LAMB2 | c.4495A>C (p.Asn1499His) n.804A>C | |
| 3 | g.49122783A= | CA1363339579 | LAMB2 | c.4494T= (p.Ala1498=) n.803T= | |
| 3 | g.49122783A>C | CA433634030 | LAMB2 | c.4494T>G (p.Ala1498=) n.803T>G | |
| 3 | g.49122783A>G | CA433634031 | LAMB2 | c.4494T>C (p.Ala1498=) n.803T>C | dbSNP |
| 3 | g.49122783A>T | CA433634032 | LAMB2 | c.4494T>A (p.Ala1498=) n.803T>A | |
| 3 | g.49122784G>A | CA352692277 | LAMB2 | c.4493C>T (p.Ala1498Val) n.802C>T | |
| 3 | g.49122784G>C | CA352692286 | LAMB2 | c.4493C>G (p.Ala1498Gly) n.802C>G | |
| 3 | g.49122784G>T | CA352692281 | LAMB2 | c.4493C>A (p.Ala1498Asp) n.802C>A | |
| 3 | g.49122785C>A | CA352692294 | LAMB2 | c.4492G>T (p.Ala1498Ser) n.801G>T | |
| 3 | g.49122785C>G | CA352692303 | LAMB2 | c.4492G>C (p.Ala1498Pro) n.801G>C | |
| 3 | g.49122785C>T | CA352692310 | LAMB2 | c.4492G>A (p.Ala1498Thr) n.801G>A | |
| 3 | g.49122786C>A | CA352692316 | LAMB2 | c.4491G>T (p.Lys1497Asn) n.800G>T | |
| 3 | g.49122786C>G | CA352692321 | LAMB2 | c.4491G>C (p.Lys1497Asn) n.800G>C | |
| 3 | g.49122786C>T | CA433634036 | LAMB2 | c.4491G>A (p.Lys1497=) n.800G>A | gnomAD v4 |
| 3 | g.49122787T>A | CA352692324 | LAMB2 | c.4490A>T (p.Lys1497Met) n.799A>T | |
| 3 | g.49122787T>C | CA352692325 | LAMB2 | c.4490A>G (p.Lys1497Arg) n.799A>G | |
| 3 | g.49122787T>G | CA352692326 | LAMB2 | c.4490A>C (p.Lys1497Thr) n.799A>C | |
| 3 | g.49122788T>A | CA352692328 | LAMB2 | c.4489A>T (p.Lys1497Ter) n.798A>T | |
| 3 | g.49122788T>C | CA2393776 | LAMB2 | c.4489A>G (p.Lys1497Glu) n.798A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122788T>G | CA352692338 | LAMB2 | c.4489A>C (p.Lys1497Gln) n.798A>C | |
| 3 | g.49122788T= | CA1363339581 | LAMB2 | c.4489A= (p.Lys1497=) n.798A= | |
| 3 | g.49122789G>A | CA433634039 | LAMB2 | c.4488C>T (p.Asp1496=) n.797C>T | |
| 3 | g.49122789G>C | CA352692346 | LAMB2 | c.4488C>G (p.Asp1496Glu) n.797C>G | |
| 3 | g.49122789G= | CA1363339584 | LAMB2 | c.4488C= (p.Asp1496=) n.797C= | |
| 3 | g.49122789G>T | CA2393777 | LAMB2 | c.4488C>A (p.Asp1496Glu) n.797C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122790T>A | CA352692351 | LAMB2 | c.4487A>T (p.Asp1496Val) n.796A>T | |
| 3 | g.49122790T>C | CA352692364 | LAMB2 | c.4487A>G (p.Asp1496Gly) n.796A>G | |
| 3 | g.49122790T>G | CA352692359 | LAMB2 | c.4487A>C (p.Asp1496Ala) n.796A>C | |
| 3 | g.49122791C>A | CA352692369 | LAMB2 | c.4486G>T (p.Asp1496Tyr) n.795G>T | |
| 3 | g.49122791C= | CA1363339586 | LAMB2 | c.4486G= (p.Asp1496=) n.795G= | |
| 3 | g.49122791C>G | CA352692385 | LAMB2 | c.4486G>C (p.Asp1496His) n.795G>C | |
| 3 | g.49122791C>T | CA2393778 | LAMB2 | c.4486G>A (p.Asp1496Asn) n.795G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122792C>A | CA433634041 | LAMB2 | c.4485G>T (p.Leu1495=) n.794G>T | |
| 3 | g.49122792C>G | CA433634042 | LAMB2 | c.4485G>C (p.Leu1495=) n.794G>C | |
| 3 | g.49122792C>T | CA433634043 | LAMB2 | c.4485G>A (p.Leu1495=) n.794G>A | |
| 3 | g.49122793A= | CA1363339588 | LAMB2 | c.4484T= (p.Leu1495=) n.793T= | |
| 3 | g.49122793A>C | CA352692387 | LAMB2 | c.4484T>G (p.Leu1495Arg) n.793T>G | |
| 3 | g.49122793A>G | CA352692389 | LAMB2 | c.4484T>C (p.Leu1495Pro) n.793T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122793A>T | CA352692388 | LAMB2 | c.4484T>A (p.Leu1495Gln) n.793T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122794G>A | CA74476313 | LAMB2 | c.4483C>T (p.Leu1495=) n.792C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122794G>C | CA352692392 | LAMB2 | c.4483C>G (p.Leu1495Val) n.792C>G | |
| 3 | g.49122794G= | CA1363339591 | LAMB2 | c.4483C= (p.Leu1495=) n.792C= | |
| 3 | g.49122794G>T | CA352692393 | LAMB2 | c.4483C>A (p.Leu1495Met) n.792C>A | |
| 3 | g.49122795G>A | CA2393779 | LAMB2 | c.4482C>T (p.Ala1494=) n.791C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122795G>C | CA433634047 | LAMB2 | c.4482C>G (p.Ala1494=) n.791C>G | |
| 3 | g.49122795G= | CA1363339593 | LAMB2 | c.4482C= (p.Ala1494=) n.791C= | |
| 3 | g.49122795G>T | CA433634048 | LAMB2 | c.4482C>A (p.Ala1494=) n.791C>A | |
| 3 | g.49122796G>A | CA352692399 | LAMB2 | c.4481C>T (p.Ala1494Val) n.790C>T | gnomAD v4 |
| 3 | g.49122796G>C | CA352692400 | LAMB2 | c.4481C>G (p.Ala1494Gly) n.790C>G | |
| 3 | g.49122796G>T | CA352692402 | LAMB2 | c.4481C>A (p.Ala1494Asp) n.790C>A | |
| 3 | g.49122797C>A | CA352692408 | LAMB2 | c.4480G>T (p.Ala1494Ser) n.789G>T | |
| 3 | g.49122797C>G | CA352692418 | LAMB2 | c.4480G>C (p.Ala1494Pro) n.789G>C | |
| 3 | g.49122797C>T | CA352692422 | LAMB2 | c.4480G>A (p.Ala1494Thr) n.789G>A | gnomAD v4 |
| 3 | g.49122798T>A | CA433634053 | LAMB2 | c.4479A>T (p.Ala1493=) n.788A>T | |
| 3 | g.49122798T>C | CA433634055 | LAMB2 | c.4479A>G (p.Ala1493=) n.788A>G | |
| 3 | g.49122798T>G | CA433634054 | LAMB2 | c.4479A>C (p.Ala1493=) n.788A>C | |
| 3 | g.49122799G>A | CA352692438 | LAMB2 | c.4478C>T (p.Ala1493Val) n.787C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122799G>C | CA352692437 | LAMB2 | c.4478C>G (p.Ala1493Gly) n.787C>G | |
| 3 | g.49122799G= | CA1363339595 | LAMB2 | c.4478C= (p.Ala1493=) n.787C= | |
| 3 | g.49122799G>T | CA352692429 | LAMB2 | c.4478C>A (p.Ala1493Glu) n.787C>A | gnomAD v4 |
| 3 | g.49122800C>A | CA352692440 | LAMB2 | c.4477G>T (p.Ala1493Ser) n.786G>T | |
| 3 | g.49122800C>G | CA352692446 | LAMB2 | c.4477G>C (p.Ala1493Pro) n.786G>C | |
| 3 | g.49122800C>T | CA352692452 | LAMB2 | c.4477G>A (p.Ala1493Thr) n.786G>A | |
| 3 | g.49122801C>A | CA352692459 | LAMB2 | c.4476G>T (p.Gln1492His) n.785G>T | COSMIC |
| 3 | g.49122801C= | CA1363339596 | LAMB2 | c.4476G= (p.Gln1492=) n.785G= | |
| 3 | g.49122801C>G | CA2393780 | LAMB2 | c.4476G>C (p.Gln1492His) n.785G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122801C>T | CA433634057 | LAMB2 | c.4476G>A (p.Gln1492=) n.785G>A | |
| 3 | g.49122802T>A | CA352692461 | LAMB2 | c.4475A>T (p.Gln1492Leu) n.784A>T | |
| 3 | g.49122802T>C | CA352692462 | LAMB2 | c.4475A>G (p.Gln1492Arg) n.784A>G | |
| 3 | g.49122802T>G | CA352692466 | LAMB2 | c.4475A>C (p.Gln1492Pro) n.784A>C | |
| 3 | g.49122803G>A | CA352692476 | LAMB2 | c.4474C>T (p.Gln1492Ter) n.783C>T | |
| 3 | g.49122803G>C | CA352692489 | LAMB2 | c.4474C>G (p.Gln1492Glu) n.783C>G | |
| 3 | g.49122803G>T | CA352692504 | LAMB2 | c.4474C>A (p.Gln1492Lys) n.783C>A | |
| 3 | g.49122804G>A | CA433634061 | LAMB2 | c.4473C>T (p.Ala1491=) n.782C>T | |
| 3 | g.49122804G>C | CA433634063 | LAMB2 | c.4473C>G (p.Ala1491=) n.782C>G | |
| 3 | g.49122804G>T | CA433634062 | LAMB2 | c.4473C>A (p.Ala1491=) n.782C>A | |
| 3 | g.49122805G>A | CA352692513 | LAMB2 | c.4472C>T (p.Ala1491Val) n.781C>T | |
| 3 | g.49122805G>C | CA352692515 | LAMB2 | c.4472C>G (p.Ala1491Gly) n.781C>G | |
| 3 | g.49122805G>T | CA352692511 | LAMB2 | c.4472C>A (p.Ala1491Asp) n.781C>A | |
| 3 | g.49122806C>A | CA352692517 | LAMB2 | c.4471G>T (p.Ala1491Ser) n.780G>T | |
| 3 | g.49122806C= | CA1363339598 | LAMB2 | c.4471G= (p.Ala1491=) n.780G= | |
| 3 | g.49122806C>G | CA352692518 | LAMB2 | c.4471G>C (p.Ala1491Pro) n.780G>C | |
| 3 | g.49122806C>T | CA2393781 | LAMB2 | c.4471G>A (p.Ala1491Thr) n.780G>A | dbSNP ExAC gnomAD v2 |
| 3 | g.49122807C>A | CA433634065 | LAMB2 | c.4470G>T (p.Arg1490=) n.779G>T | |
| 3 | g.49122807C>G | CA433634066 | LAMB2 | c.4470G>C (p.Arg1490=) n.779G>C | |
| 3 | g.49122807C>T | CA433634067 | LAMB2 | c.4470G>A (p.Arg1490=) n.779G>A | |
| 3 | g.49122808C>A | CA352692542 | LAMB2 | c.4469G>T (p.Arg1490Leu) n.778G>T | |
| 3 | g.49122808C= | CA1363339600 | LAMB2 | c.4469G= (p.Arg1490=) n.778G= | |
| 3 | g.49122808C>G | CA352692546 | LAMB2 | c.4469G>C (p.Arg1490Pro) n.778G>C | gnomAD v4 |
| 3 | g.49122808C>T | CA2393782 | LAMB2 | c.4469G>A (p.Arg1490Gln) n.778G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122809G>A | CA74476325 | LAMB2 | c.4468C>T (p.Arg1490Trp) n.777C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49122809G>C | CA352692562 | LAMB2 | c.4468C>G (p.Arg1490Gly) n.777C>G | |
| 3 | g.49122809G= | CA1363339601 | LAMB2 | c.4468C= (p.Arg1490=) n.777C= | |
| 3 | g.49122809G>T | CA433634071 | LAMB2 | c.4468C>A (p.Arg1490=) n.777C>A | |
| 3 | g.49122810C>A | CA352692568 | LAMB2 | c.4467G>T (p.Gln1489His) n.776G>T | |
| 3 | g.49122810C>G | CA352692574 | LAMB2 | c.4467G>C (p.Gln1489His) n.776G>C | |
| 3 | g.49122810C>T | CA433634073 | LAMB2 | c.4467G>A (p.Gln1489=) n.776G>A | COSMIC |
| 3 | g.49122811T>A | CA352692579 | LAMB2 | c.4466A>T (p.Gln1489Leu) n.775A>T | |
| 3 | g.49122811T>C | CA2393783 | LAMB2 | c.4466A>G (p.Gln1489Arg) n.775A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122811T>G | CA352692588 | LAMB2 | c.4466A>C (p.Gln1489Pro) n.775A>C | |
| 3 | g.49122811T= | CA1363339603 | LAMB2 | c.4466A= (p.Gln1489=) n.775A= | |
| 3 | g.49122812G>A | CA352692594 | LAMB2 | c.4465C>T (p.Gln1489Ter) n.774C>T | |
| 3 | g.49122812G>C | CA352692608 | LAMB2 | c.4465C>G (p.Gln1489Glu) n.774C>G | |
| 3 | g.49122812G>T | CA352692604 | LAMB2 | c.4465C>A (p.Gln1489Lys) n.774C>A | |
| 3 | g.49122813C>A | CA352692615 | LAMB2 | c.4464G>T (p.Gln1488His) n.773G>T | |
| 3 | g.49122813C>G | CA352692620 | LAMB2 | c.4464G>C (p.Gln1488His) n.773G>C | |
| 3 | g.49122813C>T | CA433634080 | LAMB2 | c.4464G>A (p.Gln1488=) n.773G>A | |
| 3 | g.49122814T>A | CA352692627 | LAMB2 | c.4463A>T (p.Gln1488Leu) n.772A>T | gnomAD v4 |
| 3 | g.49122814T>C | CA352692633 | LAMB2 | c.4463A>G (p.Gln1488Arg) n.772A>G | |
| 3 | g.49122814T>G | CA352692637 | LAMB2 | c.4463A>C (p.Gln1488Pro) n.772A>C | |
| 3 | g.49122815G>A | CA352692644 | LAMB2 | c.4462C>T (p.Gln1488Ter) n.771C>T | dbSNP gnomAD v4 |
| 3 | g.49122815G>C | CA352692657 | LAMB2 | c.4462C>G (p.Gln1488Glu) n.771C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122815G= | CA1363339605 | LAMB2 | c.4462C= (p.Gln1488=) n.771C= | |
| 3 | g.49122815G>T | CA352692664 | LAMB2 | c.4462C>A (p.Gln1488Lys) n.771C>A | gnomAD v4 |
| 3 | g.49122816T>A | CA433634082 | LAMB2 | c.4461A>T (p.Ala1487=) n.770A>T | |
| 3 | g.49122816T>C | CA433634084 | LAMB2 | c.4461A>G (p.Ala1487=) n.770A>G | |
| 3 | g.49122816T>G | CA433634085 | LAMB2 | c.4461A>C (p.Ala1487=) n.770A>C | |
| 3 | g.49122817G>A | CA352692668 | LAMB2 | c.4460C>T (p.Ala1487Val) n.769C>T | ClinVar dbSNP |
| 3 | g.49122817G>C | CA352692674 | LAMB2 | c.4460C>G (p.Ala1487Gly) n.769C>G | |
| 3 | g.49122817G>T | CA352692676 | LAMB2 | c.4460C>A (p.Ala1487Glu) n.769C>A | |
| 3 | g.49122818C>A | CA74476336 | LAMB2 | c.4459G>T (p.Ala1487Ser) n.768G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122818C= | CA1363339607 | LAMB2 | c.4459G= (p.Ala1487=) n.768G= | |
| 3 | g.49122818C>G | CA352692686 | LAMB2 | c.4459G>C (p.Ala1487Pro) n.768G>C | |
| 3 | g.49122818C>T | CA352692679 | LAMB2 | c.4459G>A (p.Ala1487Thr) n.768G>A | |
| 3 | g.49122819C>A | CA352692690 | LAMB2 | c.4458G>T (p.Glu1486Asp) n.767G>T | |
| 3 | g.49122819C= | CA1363339609 | LAMB2 | c.4458G= (p.Glu1486=) n.767G= | |
| 3 | g.49122819C>G | CA352692687 | LAMB2 | c.4458G>C (p.Glu1486Asp) n.767G>C | |
| 3 | g.49122819C>T | CA2393784 | LAMB2 | c.4458G>A (p.Glu1486=) n.767G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122820T>A | CA352692694 | LAMB2 | c.4457A>T (p.Glu1486Val) n.766A>T | |
| 3 | g.49122820T>C | CA352692696 | LAMB2 | c.4457A>G (p.Glu1486Gly) n.766A>G | |
| 3 | g.49122820T>G | CA352692698 | LAMB2 | c.4457A>C (p.Glu1486Ala) n.766A>C | |
| 3 | g.49122821C>A | CA352692719 | LAMB2 | c.4456G>T (p.Glu1486Ter) n.765G>T | |
| 3 | g.49122821C= | CA1363339611 | LAMB2 | c.4456G= (p.Glu1486=) n.765G= | |
| 3 | g.49122821C>G | CA352692717 | LAMB2 | c.4456G>C (p.Glu1486Gln) n.765G>C | |
| 3 | g.49122821C>T | CA352692704 | LAMB2 | c.4456G>A (p.Glu1486Lys) n.765G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122822G>A | CA2393785 | LAMB2 | c.4455C>T (p.Ser1485=) n.764C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122822G>C | CA352692725 | LAMB2 | c.4455C>G (p.Ser1485Arg) n.764C>G | |
| 3 | g.49122822G= | CA1363339612 | LAMB2 | c.4455C= (p.Ser1485=) n.764C= | |
| 3 | g.49122822G>T | CA352692727 | LAMB2 | c.4455C>A (p.Ser1485Arg) n.764C>A | |
| 3 | g.49122823C>A | CA352692731 | LAMB2 | c.4454G>T (p.Ser1485Ile) n.763G>T | |
| 3 | g.49122823C>G | CA352692733 | LAMB2 | c.4454G>C (p.Ser1485Thr) n.763G>C | |
| 3 | g.49122823C>T | CA352692743 | LAMB2 | c.4454G>A (p.Ser1485Asn) n.763G>A | |
| 3 | g.49122824T>A | CA352692748 | LAMB2 | c.4453A>T (p.Ser1485Cys) n.762A>T | COSMIC |
| 3 | g.49122824T>C | CA74476344 | LAMB2 | c.4453A>G (p.Ser1485Gly) n.762A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122824T>G | CA352692762 | LAMB2 | c.4453A>C (p.Ser1485Arg) n.762A>C | |
| 3 | g.49122824T= | CA1363339614 | LAMB2 | c.4453A= (p.Ser1485=) n.762A= | |
| 3 | g.49122825T>A | CA433634097 | LAMB2 | c.4452A>T (p.Ala1484=) n.761A>T | |
| 3 | g.49122825T>C | CA433634099 | LAMB2 | c.4452A>G (p.Ala1484=) n.761A>G | |
| 3 | g.49122825T>G | CA433634098 | LAMB2 | c.4452A>C (p.Ala1484=) n.761A>C | |
| 3 | g.49122826G>A | CA352692775 | LAMB2 | c.4451C>T (p.Ala1484Val) n.760C>T | |
| 3 | g.49122826G>C | CA352692784 | LAMB2 | c.4451C>G (p.Ala1484Gly) n.760C>G | |
| 3 | g.49122826G>T | CA352692789 | LAMB2 | c.4451C>A (p.Ala1484Glu) n.760C>A | |
| 3 | g.49122827C>A | CA352692791 | LAMB2 | c.4450G>T (p.Ala1484Ser) n.759G>T | |
| 3 | g.49122827C= | CA1363339616 | LAMB2 | c.4450G= (p.Ala1484=) n.759G= | |
| 3 | g.49122827C>G | CA2393786 | LAMB2 | c.4450G>C (p.Ala1484Pro) n.759G>C | dbSNP ExAC gnomAD v4 |
| 3 | g.49122827C>T | CA352692792 | LAMB2 | c.4450G>A (p.Ala1484Thr) n.759G>A | gnomAD v4 |
| 3 | g.49122828C>A | CA352692810 | LAMB2 | c.4449G>T (p.Gln1483His) n.758G>T | |
| 3 | g.49122828C>G | CA352692814 | LAMB2 | c.4449G>C (p.Gln1483His) n.758G>C | |
| 3 | g.49122828C>T | CA433634104 | LAMB2 | c.4449G>A (p.Gln1483=) n.758G>A | |
| 3 | g.49122829T>A | CA352692816 | LAMB2 | c.4448A>T (p.Gln1483Leu) n.757A>T | |
| 3 | g.49122829T>C | CA352692817 | LAMB2 | c.4448A>G (p.Gln1483Arg) n.757A>G | |
| 3 | g.49122829T>G | CA352692820 | LAMB2 | c.4448A>C (p.Gln1483Pro) n.757A>C | |
| 3 | g.49122830G>A | CA352692829 | LAMB2 | c.4447C>T (p.Gln1483Ter) n.756C>T | |
| 3 | g.49122830G>C | CA352692827 | LAMB2 | c.4447C>G (p.Gln1483Glu) n.756C>G | |
| 3 | g.49122830G>T | CA352692825 | LAMB2 | c.4447C>A (p.Gln1483Lys) n.756C>A | |
| 3 | g.49122831C>A | CA433634107 | LAMB2 | c.4446G>T (p.Arg1482=) n.755G>T | |
| 3 | g.49122831C>G | CA433634108 | LAMB2 | c.4446G>C (p.Arg1482=) n.755G>C | |
| 3 | g.49122831C>T | CA433634109 | LAMB2 | c.4446G>A (p.Arg1482=) n.755G>A | gnomAD v4 |
| 3 | g.49122832C>A | CA352692831 | LAMB2 | c.4445G>T (p.Arg1482Leu) n.754G>T | |
| 3 | g.49122832C= | CA1363339618 | LAMB2 | c.4445G= (p.Arg1482=) n.754G= | |
| 3 | g.49122832C>G | CA352692833 | LAMB2 | c.4445G>C (p.Arg1482Pro) n.754G>C | gnomAD v4 |
| 3 | g.49122832C>T | CA352692837 | LAMB2 | c.4445G>A (p.Arg1482Gln) n.754G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122835_49122837del | CA2665695198 | LAMB2 | c.4443_4445del (p.Arg1482del) n.752_754del | gnomAD v4 |
| 3 | g.49122833G>A | CA2393787 | LAMB2 | c.4444C>T (p.Arg1482Trp) n.753C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49122833G>C | CA352692846 | LAMB2 | c.4444C>G (p.Arg1482Gly) n.753C>G | |
| 3 | g.49122833G= | CA1363339621 | LAMB2 | c.4444C= (p.Arg1482=) n.753C= | |
| 3 | g.49122833G>T | CA74476358 | LAMB2 | c.4444C>A (p.Arg1482=) n.753C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122835_49122856del | CA2577594195 | LAMB2 | c.4423_4444del (p.Ser1475GlyfsTer?) n.732_753del | |
| 3 | g.49122834A= | CA1363339624 | LAMB2 | c.4443T= (p.Arg1481=) n.752T= | |
| 3 | g.49122834A>C | CA433634113 | LAMB2 | c.4443T>G (p.Arg1481=) n.752T>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122834A>G | CA433634111 | LAMB2 | c.4443T>C (p.Arg1481=) n.752T>C | |
| 3 | g.49122834A>T | CA433634112 | LAMB2 | c.4443T>A (p.Arg1481=) n.752T>A | |
| 3 | g.49122835C>A | CA352692863 | LAMB2 | c.4442G>T (p.Arg1481Leu) n.751G>T | gnomAD v4 |
| 3 | g.49122835C= | CA1363339626 | LAMB2 | c.4442G= (p.Arg1481=) n.751G= | |
| 3 | g.49122835C>G | CA352692860 | LAMB2 | c.4442G>C (p.Arg1481Pro) n.751G>C | dbSNP gnomAD v4 |
| 3 | g.49122835C>T | CA74476363 | LAMB2 | c.4442G>A (p.Arg1481His) n.751G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.49122836G>A | CA2393788 | LAMB2 | c.4441C>T (p.Arg1481Cys) n.750C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.49122836G>C | CA352692871 | LAMB2 | c.4441C>G (p.Arg1481Gly) n.750C>G | |
| 3 | g.49122836G= | CA1363339628 | LAMB2 | c.4441C= (p.Arg1481=) n.750C= | |
| 3 | g.49122836G>T | CA352692872 | LAMB2 | c.4441C>A (p.Arg1481Ser) n.750C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122837A>C | CA433634117 | LAMB2 | c.4440T>G (p.Thr1480=) n.749T>G | |
| 3 | g.49122837A>G | CA433634118 | LAMB2 | c.4440T>C (p.Thr1480=) n.749T>C | |
| 3 | g.49122837A>T | CA433634119 | LAMB2 | c.4440T>A (p.Thr1480=) n.749T>A | |
| 3 | g.49122838_49122839insAAG | CA2665695203 | LAMB2 | c.4440_4441insTCT (p.Thr1480_Arg1481insSer) n.749_750insTCT | gnomAD v4 |
| 3 | g.49122838_49122839insGAGAGTAG | CA2665695204 | LAMB2 | c.4440_4441insACTCTCCT (p.Arg1481ThrfsTer?) n.749_750insACTCTCCT | gnomAD v4 |
| 3 | g.49122839_49122844del | CA2665695206 | LAMB2 | c.4435_4440del (p.Glu1479_Thr1480del) n.744_749del | gnomAD v4 |
| 3 | g.49122838G>A | CA352692873 | LAMB2 | c.4439C>T (p.Thr1480Ile) n.748C>T | |
| 3 | g.49122838G>C | CA352692877 | LAMB2 | c.4439C>G (p.Thr1480Ser) n.748C>G | |
| 3 | g.49122838G>T | CA352692889 | LAMB2 | c.4439C>A (p.Thr1480Asn) n.748C>A | |
| 3 | g.49122838_49122842del | CA2665695209 | LAMB2 | c.4435_4439del (p.Glu1479SerfsTer19) n.744_748del | gnomAD v4 |
| 3 | g.49122838_49122839insA | CA2665695212 | LAMB2 | c.4438_4439insT (p.Thr1480IlefsTer20) n.747_748insT | gnomAD v4 |
| 3 | g.49122838_49122839insCGA | CA2665695215 | LAMB2 | c.4438_4439insTCG (p.Thr1480delinsIleAla) n.747_748insTCG | gnomAD v4 |
| 3 | g.49122839del | CA2665695217 | LAMB2 | c.4438del (p.Thr1480LeufsTer?) n.747del | gnomAD v4 |
| 3 | g.49122839T>A | CA352692895 | LAMB2 | c.4438A>T (p.Thr1480Ser) n.747A>T | gnomAD v2 gnomAD v4 |
| 3 | g.49122839T>C | CA2393789 | LAMB2 | c.4438A>G (p.Thr1480Ala) n.747A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122839T>G | CA352692897 | LAMB2 | c.4438A>C (p.Thr1480Pro) n.747A>C | |
| 3 | g.49122839T= | CA1363339630 | LAMB2 | c.4438A= (p.Thr1480=) n.747A= | |
| 3 | g.49122839_49122841del | CA2665695213 | LAMB2 | c.4436_4438del (p.Glu1479_Thr1480delinsAla) n.745_747del | gnomAD v4 |
| 3 | g.49122839_49122842del | CA2665695214 | LAMB2 | c.4435_4438del (p.Glu1479LeufsTer?) n.744_747del | gnomAD v4 |
| 3 | g.49122841_49122842del | CA2665695216 | LAMB2 | c.4437_4438del (p.Glu1479AspfsTer20) n.746_747del | gnomAD v4 |
| 3 | g.49122839_49122843del | CA2665695210 | LAMB2 | c.4434_4438del (p.Glu1479SerfsTer19) n.743_747del | gnomAD v4 |
| 3 | g.49122839_49122846del | CA2665695211 | LAMB2 | c.4431_4438del (p.Ala1478SerfsTer19) n.740_747del | gnomAD v4 |
| 3 | g.49122839_49122840insGA | CA2665695221 | LAMB2 | c.4437_4438insTC (p.Thr1480SerfsTer?) n.746_747insTC | gnomAD v4 |
| 3 | g.49122840del | CA543048538 | LAMB2 | c.4437del (p.Thr1480LeufsTer?) n.746del | gnomAD v2 gnomAD v4 |
| 3 | g.49122840C>A | CA352692899 | LAMB2 | c.4437G>T (p.Glu1479Asp) n.746G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122840C= | CA1363339632 | LAMB2 | c.4437G= (p.Glu1479=) n.746G= | |
| 3 | g.49122840C>G | CA352692913 | LAMB2 | c.4437G>C (p.Glu1479Asp) n.746G>C | gnomAD v4 |
| 3 | g.49122840C>T | CA433634121 | LAMB2 | c.4437G>A (p.Glu1479=) n.746G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122840_49122842del | CA2665695218 | LAMB2 | c.4435_4437del (p.Glu1479del) n.744_746del | gnomAD v4 |
| 3 | g.49122840_49122848del | CA2665695219 | LAMB2 | c.4429_4437del (p.Val1477_Glu1479del) n.738_746del | gnomAD v4 |
| 3 | g.49122840_49122853del | CA2665695220 | LAMB2 | c.4424_4437del (p.Ser1475AsnfsTer20) n.733_746del | gnomAD v4 |
| 3 | g.49122840_49122841insGAT | CA2665695222 | LAMB2 | c.4436_4437insATC (p.Glu1479_Thr1480insSer) n.745_746insATC | gnomAD v4 |
| 3 | g.49122841T>A | CA352692919 | LAMB2 | c.4436A>T (p.Glu1479Val) n.745A>T | |
| 3 | g.49122841T>C | CA352692931 | LAMB2 | c.4436A>G (p.Glu1479Gly) n.745A>G | |
| 3 | g.49122841T>G | CA352692933 | LAMB2 | c.4436A>C (p.Glu1479Ala) n.745A>C | |
| 3 | g.49122841T= | CA1363339634 | LAMB2 | c.4436A= (p.Glu1479=) n.745A= | |
| 3 | g.49122841_49122842insA | CA543048539 | LAMB2 | c.4435_4436insT (p.Glu1479ValfsTer21) n.744_745insT | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122842del | CA2665695225 | LAMB2 | c.4435del (p.Glu1479ArgfsTer?) n.744del | gnomAD v4 |
| 3 | g.49122842C>A | CA352692934 | LAMB2 | c.4435G>T (p.Glu1479Ter) n.744G>T | ClinVar gnomAD v4 |
| 3 | g.49122842C= | CA1363339637 | LAMB2 | c.4435G= (p.Glu1479=) n.744G= | |
| 3 | g.49122842C>G | CA352692938 | LAMB2 | c.4435G>C (p.Glu1479Gln) n.744G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122842C>T | CA2393790 | LAMB2 | c.4435G>A (p.Glu1479Lys) n.744G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122842_49122846del | CA2665695223 | LAMB2 | c.4431_4435del (p.Ala1478AspfsTer20) n.740_744del | gnomAD v4 |
| 3 | g.49122842_49122843insGTGT | CA2665695227 | LAMB2 | c.4434_4435insACAC (p.Glu1479ThrfsTer22) n.743_744insACAC | gnomAD v4 |
| 3 | g.49122843A>C | CA433634122 | LAMB2 | c.4434T>G (p.Ala1478=) n.743T>G | |
| 3 | g.49122843A>G | CA433634123 | LAMB2 | c.4434T>C (p.Ala1478=) n.743T>C | |
| 3 | g.49122843A>T | CA433634124 | LAMB2 | c.4434T>A (p.Ala1478=) n.743T>A | |
| 3 | g.49122843_49122846delinsAGCC | CA1363339638 | LAMB2 | c.4431_4434delinsGGCT (p.Val1477=) n.740_743delinsGGCT | |
| 3 | g.49122844G>A | CA2393791 | LAMB2 | c.4433C>T (p.Ala1478Val) n.742C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122844G>C | CA352692950 | LAMB2 | c.4433C>G (p.Ala1478Gly) n.742C>G | |
| 3 | g.49122844G= | CA1363339640 | LAMB2 | c.4433C= (p.Ala1478=) n.742C= | |
| 3 | g.49122844G>T | CA352692952 | LAMB2 | c.4433C>A (p.Ala1478Asp) n.742C>A | gnomAD v4 |
| 3 | g.49122844_49122846del | CA543048540 | LAMB2 | c.4431_4433del (p.Ala1478del) n.740_742del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122844_49122855del | CA2756174292 | LAMB2 | c.4422_4433del (p.Ser1475_Ala1478del) n.731_742del | |
| 3 | g.49122845C>A | CA352692970 | LAMB2 | c.4432G>T (p.Ala1478Ser) n.741G>T | gnomAD v4 |
| 3 | g.49122845C>G | CA352692961 | LAMB2 | c.4432G>C (p.Ala1478Pro) n.741G>C | |
| 3 | g.49122845C>T | CA352692956 | LAMB2 | c.4432G>A (p.Ala1478Thr) n.741G>A | gnomAD v4 |
| 3 | g.49122845_49122846del | CA2665695233 | LAMB2 | c.4431_4432del (p.Ala1478Ter) n.740_741del | gnomAD v4 |
| 3 | g.49122846del | CA2665695232 | LAMB2 | c.4432del (p.Ala1478LeufsTer?) n.741del | gnomAD v4 |
| 3 | g.49122845_49122848del | CA2665695234 | LAMB2 | c.4429_4432del (p.Val1477LeufsTer?) n.738_741del | gnomAD v4 |
| 3 | g.49122845_49122850del | CA2665695238 | LAMB2 | c.4427_4432del (p.Arg1476_Ala1478delinsThr) n.736_741del | gnomAD v4 |
| 3 | g.49122846_49122850del | CA2665695236 | LAMB2 | c.4428_4432del (p.Arg1476SerfsTer2) n.737_741del | gnomAD v4 |
| 3 | g.49122845_49122851del | CA2665695240 | LAMB2 | c.4426_4432del (p.Arg1476LeufsTer?) n.735_741del | gnomAD v4 |
| 3 | g.49122846C>A | CA433634126 | LAMB2 | c.4431G>T (p.Val1477=) n.740G>T | |
| 3 | g.49122846C>G | CA433634127 | LAMB2 | c.4431G>C (p.Val1477=) n.740G>C | |
| 3 | g.49122846C>T | CA433634128 | LAMB2 | c.4431G>A (p.Val1477=) n.740G>A | gnomAD v4 |
| 3 | g.49122846_49122855del | CA2756174293 | LAMB2 | c.4422_4431del (p.Ser1475LeufsTer?) n.731_740del | |
| 3 | g.49122846_49122847insGTGT | CA2665695245 | LAMB2 | c.4430_4431insACAC (p.Ala1478HisfsTer3) n.739_740insACAC | gnomAD v4 |
| 3 | g.49122847A= | CA1363339641 | LAMB2 | c.4430T= (p.Val1477=) n.739T= | |
| 3 | g.49122847A>C | CA352692986 | LAMB2 | c.4430T>G (p.Val1477Gly) n.739T>G | |
| 3 | g.49122847A>G | CA352692997 | LAMB2 | c.4430T>C (p.Val1477Ala) n.739T>C | dbSNP |
| 3 | g.49122847A>T | CA352693003 | LAMB2 | c.4430T>A (p.Val1477Glu) n.739T>A | |
| 3 | g.49122847_49122848insT | CA2665695252 | LAMB2 | c.4429_4430insA (p.Val1477AspfsTer3) n.738_739insA | gnomAD v4 |
| 3 | g.49122847_49122848insGAT | CA2665695248 | LAMB2 | c.4429_4430insATC (p.Val1477delinsAspLeu) n.738_739insATC | gnomAD v4 |
| 3 | g.49122847_49122848insGTGTAGAT | CA2665695250 | LAMB2 | c.4429_4430insATCTACAC (p.Val1477AspfsTer?) n.738_739insATCTACAC | gnomAD v4 |
| 3 | g.49122848C>A | CA352693004 | LAMB2 | c.4429G>T (p.Val1477Leu) n.738G>T | gnomAD v4 COSMIC |
| 3 | g.49122848C= | CA1363339643 | LAMB2 | c.4429G= (p.Val1477=) n.738G= | |
| 3 | g.49122848C>G | CA352693005 | LAMB2 | c.4429G>C (p.Val1477Leu) n.738G>C | gnomAD v4 |
| 3 | g.49122848C>T | CA352693006 | LAMB2 | c.4429G>A (p.Val1477Met) n.738G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122848_49122853del | CA2665695253 | LAMB2 | c.4424_4429del (p.Ser1475_Val1477delinsMet) n.733_738del | gnomAD v4 |
| 3 | g.49122848_49122854del | CA2665695254 | LAMB2 | c.4423_4429del (p.Ser1475TrpfsTer?) n.732_738del | gnomAD v4 |
| 3 | g.49122849del | CA2555298827 | LAMB2 | c.4428del (p.Val1477TrpfsTer?) n.737del | |
| 3 | g.49122849T>A | CA352693007 | LAMB2 | c.4428A>T (p.Arg1476Ser) n.737A>T | |
| 3 | g.49122849T>C | CA433634130 | LAMB2 | c.4428A>G (p.Arg1476=) n.737A>G | |
| 3 | g.49122849T>G | CA352693010 | LAMB2 | c.4428A>C (p.Arg1476Ser) n.737A>C | |
| 3 | g.49122850C>A | CA352693016 | LAMB2 | c.4427G>T (p.Arg1476Ile) n.736G>T | gnomAD v4 |
| 3 | g.49122850C= | CA1363339645 | LAMB2 | c.4427G= (p.Arg1476=) n.736G= | |
| 3 | g.49122850C>G | CA352693019 | LAMB2 | c.4427G>C (p.Arg1476Thr) n.736G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122850C>T | CA352693021 | LAMB2 | c.4427G>A (p.Arg1476Lys) n.736G>A | |
| 3 | g.49122850_49122855del | CA2665695261 | LAMB2 | c.4422_4427del (p.Ser1475_Arg1476del) n.731_736del | gnomAD v4 |
| 3 | g.49122850_49122851insG | CA2665695273 | LAMB2 | c.4426_4427insC (p.Arg1476ThrfsTer4) n.735_736insC | gnomAD v4 |
| 3 | g.49122851del | CA2665695271 | LAMB2 | c.4426del (p.Arg1476GlufsTer?) n.735del | gnomAD v4 |
| 3 | g.49122851T>A | CA352693022 | LAMB2 | c.4426A>T (p.Arg1476Ter) n.735A>T | |
| 3 | g.49122851T>C | CA352693024 | LAMB2 | c.4426A>G (p.Arg1476Gly) n.735A>G | gnomAD v4 |
| 3 | g.49122851T>G | CA433634131 | LAMB2 | c.4426A>C (p.Arg1476=) n.735A>C | |
| 3 | g.49122851_49122856del | CA2665695270 | LAMB2 | c.4421_4426del (p.Leu1474_Ser1475del) n.730_735del | gnomAD v4 |
| 3 | g.49122852G>A | CA2393792 | LAMB2 | c.4425C>T (p.Ser1475=) n.734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122852G>C | CA352693031 | LAMB2 | c.4425C>G (p.Ser1475Arg) n.734C>G | |
| 3 | g.49122852G= | CA1363339646 | LAMB2 | c.4425C= (p.Ser1475=) n.734C= | |
| 3 | g.49122852G>T | CA352693028 | LAMB2 | c.4425C>A (p.Ser1475Arg) n.734C>A | |
| 3 | g.49122852dup | CA2506299756 | LAMB2 | c.4425dup (p.Arg1476GlnfsTer4) n.734dup | |
| 3 | g.49122853del | CA2665695280 | LAMB2 | c.4424del (p.Ser1475ThrfsTer?) n.733del | gnomAD v4 |
| 3 | g.49122853C>A | CA352693036 | LAMB2 | c.4424G>T (p.Ser1475Ile) n.733G>T | gnomAD v4 |
| 3 | g.49122853C= | CA1363339648 | LAMB2 | c.4424G= (p.Ser1475=) n.733G= | |
| 3 | g.49122853C>G | CA352693038 | LAMB2 | c.4424G>C (p.Ser1475Thr) n.733G>C | gnomAD v4 |
| 3 | g.49122853C>T | CA2393793 | LAMB2 | c.4424G>A (p.Ser1475Asn) n.733G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122853_49122854del | CA2665695281 | LAMB2 | c.4423_4424del (p.Ser1475GlnfsTer4) n.732_733del | gnomAD v4 |
| 3 | g.49122854T>A | CA352693051 | LAMB2 | c.4423A>T (p.Ser1475Cys) n.732A>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122854T>C | CA352693057 | LAMB2 | c.4423A>G (p.Ser1475Gly) n.732A>G | |
| 3 | g.49122854T>G | CA352693078 | LAMB2 | c.4423A>C (p.Ser1475Arg) n.732A>C | |
| 3 | g.49122854T= | CA1363339649 | LAMB2 | c.4423A= (p.Ser1475=) n.732A= | |
| 3 | g.49122854_49122855insA | CA2665695291 | LAMB2 | c.4422_4423insT (p.Ser1475Ter) n.731_732insT | gnomAD v4 |
| 3 | g.49122855G>A | CA2393794 | LAMB2 | c.4422C>T (p.Leu1474=) n.731C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.49122855G>C | CA433634136 | LAMB2 | c.4422C>G (p.Leu1474=) n.731C>G | |
| 3 | g.49122855G= | CA1363339651 | LAMB2 | c.4422C= (p.Leu1474=) n.731C= | |
| 3 | g.49122855G>T | CA433634135 | LAMB2 | c.4422C>A (p.Leu1474=) n.731C>A | |
| 3 | g.49122856A= | CA1363339653 | LAMB2 | c.4421T= (p.Leu1474=) n.730T= | |
| 3 | g.49122856A>C | CA352693081 | LAMB2 | c.4421T>G (p.Leu1474Arg) n.730T>G | |
| 3 | g.49122856A>G | CA352693089 | LAMB2 | c.4421T>C (p.Leu1474Pro) n.730T>C | |
| 3 | g.49122856A>T | CA352693092 | LAMB2 | c.4421T>A (p.Leu1474His) n.730T>A | gnomAD v4 |
| 3 | g.49122856_49122857insTCTC | CA543048541 | LAMB2 | c.4420_4421insGAGA (p.Leu1474ArgfsTer7) n.729_730insGAGA | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122857G>A | CA352693094 | LAMB2 | c.4420C>T (p.Leu1474Phe) n.729C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.49122857G>C | CA352693095 | LAMB2 | c.4420C>G (p.Leu1474Val) n.729C>G | |
| 3 | g.49122857G= | CA1363339656 | LAMB2 | c.4420C= (p.Leu1474=) n.729C= | |
| 3 | g.49122857G>T | CA352693096 | LAMB2 | c.4420C>A (p.Leu1474Ile) n.729C>A | gnomAD v4 |
| 3 | g.49122857_49122858insTA | CA2665695303 | LAMB2 | c.4419_4420insTA (p.Leu1474TyrfsTer?) n.728_729insTA | gnomAD v4 |
| 3 | g.49122857_49122858insTGTA | CA2665695305 | LAMB2 | c.4419_4420insTACA (p.Leu1474TyrfsTer7) n.728_729insTACA | gnomAD v4 |
| 3 | g.49122858G>A | CA433634137 | LAMB2 | c.4419C>T (p.Ile1473=) n.728C>T | |
| 3 | g.49122858G>C | CA352693100 | LAMB2 | c.4419C>G (p.Ile1473Met) n.728C>G | |
| 3 | g.49122858G>T | CA433634139 | LAMB2 | c.4419C>A (p.Ile1473=) n.728C>A | gnomAD v4 |
| 3 | g.49122858_49122859del | CA2756174301 | LAMB2 | c.4418_4419del (p.Ile1473ThrfsTer6) n.727_728del | |
| 3 | g.49122858_49122859delinsGA | CA1363339658 | LAMB2 | c.4418_4419delinsTC (p.Ile1473=) n.727_728delinsTC | |
| 3 | g.49122859del | CA543048542 | LAMB2 | c.4418del (p.Ile1473ThrfsTer?) n.727del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122859A>C | CA352693128 | LAMB2 | c.4418T>G (p.Ile1473Ser) n.727T>G | |
| 3 | g.49122859A>G | CA352693119 | LAMB2 | c.4418T>C (p.Ile1473Thr) n.727T>C | gnomAD v4 |
| 3 | g.49122859A>T | CA352693108 | LAMB2 | c.4418T>A (p.Ile1473Asn) n.727T>A | gnomAD v4 |