Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.49122864_49122875del | CA2756174305 | LAMB2 | c.4402_4413del (p.Ala1468_Gly1471del) n.711_722del | |
3 | g.49122873_49122875delinsTGC | CA1363339678 | LAMB2 | c.4402_4404delinsGCA (p.Ala1468=) n.711_713delinsGCA | |
3 | g.49122874G>A | CA352693285 | LAMB2 | c.4403C>T (p.Ala1468Val) n.712C>T | COSMIC |
3 | g.49122874G>C | CA352693286 | LAMB2 | c.4403C>G (p.Ala1468Gly) n.712C>G | |
3 | g.49122874G>T | CA352693287 | LAMB2 | c.4403C>A (p.Ala1468Glu) n.712C>A | |
3 | g.49122874_49122875del | CA543048544 | LAMB2 | c.4402_4403del (p.Ala1468ArgfsTer4) n.711_712del | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122875C>A | CA352693288 | LAMB2 | c.4402G>T (p.Ala1468Ser) n.711G>T | |
3 | g.49122875C>G | CA352693290 | LAMB2 | c.4402G>C (p.Ala1468Pro) n.711G>C | |
3 | g.49122875C>T | CA352693303 | LAMB2 | c.4402G>A (p.Ala1468Thr) n.711G>A | gnomAD v4 |
3 | g.49122876C>A | CA433634157 | LAMB2 | c.4401G>T (p.Leu1467=) n.710G>T | |
3 | g.49122876C= | CA1363339680 | LAMB2 | c.4401G= (p.Leu1467=) n.710G= | |
3 | g.49122876C>G | CA433634156 | LAMB2 | c.4401G>C (p.Leu1467=) n.710G>C | |
3 | g.49122876C>T | CA433634155 | LAMB2 | c.4401G>A (p.Leu1467=) n.710G>A | dbSNP |
3 | g.49122877del | CA2665695352 | LAMB2 | c.4400del (p.Leu1467ArgfsTer?) n.709del | gnomAD v4 |
3 | g.49122877A>C | CA352693333 | LAMB2 | c.4400T>G (p.Leu1467Arg) n.709T>G | |
3 | g.49122877A>G | CA352693325 | LAMB2 | c.4400T>C (p.Leu1467Pro) n.709T>C | gnomAD v4 |
3 | g.49122877A>T | CA352693327 | LAMB2 | c.4400T>A (p.Leu1467Gln) n.709T>A | |
3 | g.49122878G>A | CA433634158 | LAMB2 | c.4399C>T (p.Leu1467=) n.708C>T | |
3 | g.49122878G>C | CA352693351 | LAMB2 | c.4399C>G (p.Leu1467Val) n.708C>G | gnomAD v4 |
3 | g.49122878G= | CA1363339682 | LAMB2 | c.4399C= (p.Leu1467=) n.708C= | |
3 | g.49122878G>T | CA352693352 | LAMB2 | c.4399C>A (p.Leu1467Met) n.708C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122879T>A | CA433634159 | LAMB2 | c.4398A>T (p.Ala1466=) n.707A>T | |
3 | g.49122879T>C | CA433634160 | LAMB2 | c.4398A>G (p.Ala1466=) n.707A>G | ClinVar dbSNP |
3 | g.49122879T>G | CA433634161 | LAMB2 | c.4398A>C (p.Ala1466=) n.707A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122879T= | CA1363339683 | LAMB2 | c.4398A= (p.Ala1466=) n.707A= | |
3 | g.49122879_49122880insAAAAA | CA543048545 | LAMB2 | c.4397_4398insTTTTT (p.Leu1467PhefsTer?) n.706_707insTTTTT | gnomAD v2 gnomAD v4 |
3 | g.49122879_49122880insATCATTAAAAA | CA2665695364 | LAMB2 | c.4397_4398insTTTTTAATGAT (p.Leu1467PhefsTer2) n.706_707insTTTTTAATGAT | gnomAD v4 |
3 | g.49122880G>A | CA352693356 | LAMB2 | c.4397C>T (p.Ala1466Val) n.706C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122880G>C | CA352693360 | LAMB2 | c.4397C>G (p.Ala1466Gly) n.706C>G | |
3 | g.49122880G= | CA1363339685 | LAMB2 | c.4397C= (p.Ala1466=) n.706C= | |
3 | g.49122880G>T | CA352693363 | LAMB2 | c.4397C>A (p.Ala1466Glu) n.706C>A | gnomAD v4 |
3 | g.49122880_49122881insGT | CA2756174308 | LAMB2 | c.4396_4397insAC (p.Ala1466AspfsTer?) n.705_706insAC | |
3 | g.49122881C>A | CA352693385 | LAMB2 | c.4396G>T (p.Ala1466Ser) n.705G>T | |
3 | g.49122881C>G | CA352693371 | LAMB2 | c.4396G>C (p.Ala1466Pro) n.705G>C | |
3 | g.49122881C>T | CA352693384 | LAMB2 | c.4396G>A (p.Ala1466Thr) n.705G>A | |
3 | g.49122881_49122882insG | CA2756174309 | LAMB2 | c.4395_4396insC (p.Ala1466ArgfsTer7) n.704_705insC | |
3 | g.49122882C>A | CA433634163 | LAMB2 | c.4395G>T (p.Arg1465=) n.704G>T | |
3 | g.49122882C= | CA1363339688 | LAMB2 | c.4395G= (p.Arg1465=) n.704G= | |
3 | g.49122882C>G | CA2393797 | LAMB2 | c.4395G>C (p.Arg1465=) n.704G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49122882C>T | CA74476455 | LAMB2 | c.4395G>A (p.Arg1465=) n.704G>A | ClinVar dbSNP |
3 | g.49122883C>A | CA352693392 | LAMB2 | c.4394G>T (p.Arg1465Leu) n.703G>T | |
3 | g.49122883C= | CA1363339692 | LAMB2 | c.4394G= (p.Arg1465=) n.703G= | |
3 | g.49122883C>G | CA352693393 | LAMB2 | c.4394G>C (p.Arg1465Pro) n.703G>C | gnomAD v4 |
3 | g.49122883C>T | CA2393798 | LAMB2 | c.4394G>A (p.Arg1465Gln) n.703G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122884G>A | CA2393799 | LAMB2 | c.4393C>T (p.Arg1465Trp) n.702C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.49122884G>C | CA352693398 | LAMB2 | c.4393C>G (p.Arg1465Gly) n.702C>G | |
3 | g.49122884G= | CA1363339695 | LAMB2 | c.4393C= (p.Arg1465=) n.702C= | |
3 | g.49122884G>T | CA433634166 | LAMB2 | c.4393C>A (p.Arg1465=) n.702C>A | gnomAD v4 |
3 | g.49122884_49122885insTATCATTAAAAAAAAAA | CA2756174310 | LAMB2 | c.4392_4393insTTTTTTTTTTAATGATA (p.Arg1465PhefsTer4) n.701_702insTTTTTTTTTTAATGATA | |
3 | g.49122885C>A | CA352693401 | LAMB2 | c.4392G>T (p.Gln1464His) n.701G>T | |
3 | g.49122885C= | CA1363339697 | LAMB2 | c.4392G= (p.Gln1464=) n.701G= | |
3 | g.49122885C>G | CA352693402 | LAMB2 | c.4392G>C (p.Gln1464His) n.701G>C | |
3 | g.49122885C>T | CA433634168 | LAMB2 | c.4392G>A (p.Gln1464=) n.701G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122886T>A | CA352693404 | LAMB2 | c.4391A>T (p.Gln1464Leu) n.700A>T | |
3 | g.49122886T>C | CA352693408 | LAMB2 | c.4391A>G (p.Gln1464Arg) n.700A>G | dbSNP gnomAD v2 |
3 | g.49122886T>G | CA352693410 | LAMB2 | c.4391A>C (p.Gln1464Pro) n.700A>C | |
3 | g.49122886T= | CA1363339699 | LAMB2 | c.4391A= (p.Gln1464=) n.700A= | |
3 | g.49122887G>A | CA352693413 | LAMB2 | c.4390C>T (p.Gln1464Ter) n.699C>T | dbSNP |
3 | g.49122887G>C | CA352693415 | LAMB2 | c.4390C>G (p.Gln1464Glu) n.699C>G | |
3 | g.49122887G= | CA1363339701 | LAMB2 | c.4390C= (p.Gln1464=) n.699C= | |
3 | g.49122887G>T | CA352693414 | LAMB2 | c.4390C>A (p.Gln1464Lys) n.699C>A | gnomAD v4 |
3 | g.49122888C>A | CA433634169 | LAMB2 | c.4389G>T (p.Leu1463=) n.698G>T | COSMIC |
3 | g.49122888C>G | CA433634170 | LAMB2 | c.4389G>C (p.Leu1463=) n.698G>C | |
3 | g.49122888C>T | CA433634171 | LAMB2 | c.4389G>A (p.Leu1463=) n.698G>A | |
3 | g.49122889A= | CA1363339703 | LAMB2 | c.4388T= (p.Leu1463=) n.697T= | |
3 | g.49122889A>C | CA352693420 | LAMB2 | c.4388T>G (p.Leu1463Arg) n.697T>G | dbSNP |
3 | g.49122889A>G | CA352693431 | LAMB2 | c.4388T>C (p.Leu1463Pro) n.697T>C | |
3 | g.49122889A>T | CA352693439 | LAMB2 | c.4388T>A (p.Leu1463Gln) n.697T>A | |
3 | g.49122890G>A | CA433634173 | LAMB2 | c.4387C>T (p.Leu1463=) n.696C>T | |
3 | g.49122890G>C | CA352693441 | LAMB2 | c.4387C>G (p.Leu1463Val) n.696C>G | |
3 | g.49122890G>T | CA352693443 | LAMB2 | c.4387C>A (p.Leu1463Met) n.696C>A | |
3 | g.49122891C>A | CA2393800 | LAMB2 | c.4386G>T (p.Glu1462Asp) n.695G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49122891C= | CA1363339705 | LAMB2 | c.4386G= (p.Glu1462=) n.695G= | |
3 | g.49122891C>G | CA352693461 | LAMB2 | c.4386G>C (p.Glu1462Asp) n.695G>C | |
3 | g.49122891C>T | CA433634176 | LAMB2 | c.4386G>A (p.Glu1462=) n.695G>A | |
3 | g.49122892T>A | CA352693468 | LAMB2 | c.4385A>T (p.Glu1462Val) n.694A>T | |
3 | g.49122892T>C | CA352693487 | LAMB2 | c.4385A>G (p.Glu1462Gly) n.694A>G | |
3 | g.49122892T>G | CA352693490 | LAMB2 | c.4385A>C (p.Glu1462Ala) n.694A>C | |
3 | g.49122893C>A | CA2393801 | LAMB2 | c.4384G>T (p.Glu1462Ter) n.693G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49122893C= | CA1363339707 | LAMB2 | c.4384G= (p.Glu1462=) n.693G= | |
3 | g.49122893C>G | CA352693498 | LAMB2 | c.4384G>C (p.Glu1462Gln) n.693G>C | |
3 | g.49122893C>T | CA352693499 | LAMB2 | c.4384G>A (p.Glu1462Lys) n.693G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49122894T>A | CA433634177 | LAMB2 | c.4383A>T (p.Ala1461=) n.692A>T | |
3 | g.49122894T>C | CA433634178 | LAMB2 | c.4383A>G (p.Ala1461=) n.692A>G | |
3 | g.49122894T>G | CA433634180 | LAMB2 | c.4383A>C (p.Ala1461=) n.692A>C | |
3 | g.49122895G>A | CA352693504 | LAMB2 | c.4382C>T (p.Ala1461Val) n.691C>T | |
3 | g.49122895G>C | CA352693530 | LAMB2 | c.4382C>G (p.Ala1461Gly) n.691C>G | |
3 | g.49122895G>T | CA352693516 | LAMB2 | c.4382C>A (p.Ala1461Glu) n.691C>A | gnomAD v4 |
3 | g.49122896C>A | CA352693539 | LAMB2 | c.4381G>T (p.Ala1461Ser) n.690G>T | |
3 | g.49122896C>G | CA352693543 | LAMB2 | c.4381G>C (p.Ala1461Pro) n.690G>C | |
3 | g.49122896C>T | CA352693547 | LAMB2 | c.4381G>A (p.Ala1461Thr) n.690G>A | |
3 | g.49122897C>A | CA352693557 | LAMB2 | c.4380G>T (p.Gln1460His) n.689G>T | |
3 | g.49122897C>G | CA352693564 | LAMB2 | c.4380G>C (p.Gln1460His) n.689G>C | |
3 | g.49122897C>T | CA433634182 | LAMB2 | c.4380G>A (p.Gln1460=) n.689G>A | |
3 | g.49122897_49122899delinsCTG | CA1363339709 | LAMB2 | c.4378_4380delinsCAG (p.Gln1460=) n.687_689delinsCAG | |
3 | g.49122898T>A | CA352693566 | LAMB2 | c.4379A>T (p.Gln1460Leu) n.688A>T | dbSNP |
3 | g.49122898T>C | CA352693567 | LAMB2 | c.4379A>G (p.Gln1460Arg) n.688A>G | |
3 | g.49122898T>G | CA352693569 | LAMB2 | c.4379A>C (p.Gln1460Pro) n.688A>C | |
3 | g.49122898T= | CA1363339712 | LAMB2 | c.4379A= (p.Gln1460=) n.688A= | |
3 | g.49122904_49122905del | CA1363339711 | LAMB2 | c.4378_4379del (p.Gln1460GlyfsTer12) n.687_688del | dbSNP |
3 | g.49122899G>A | CA352693580 | LAMB2 | c.4378C>T (p.Gln1460Ter) n.687C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122899G>C | CA2393802 | LAMB2 | c.4378C>G (p.Gln1460Glu) n.687C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49122899G= | CA1363339715 | LAMB2 | c.4378C= (p.Gln1460=) n.687C= | |
3 | g.49122899G>T | CA352693584 | LAMB2 | c.4378C>A (p.Gln1460Lys) n.687C>A | |
3 | g.49122900T>A | CA433634183 | LAMB2 | c.4377A>T (p.Thr1459=) n.686A>T | |
3 | g.49122900T>C | CA433634185 | LAMB2 | c.4377A>G (p.Thr1459=) n.686A>G | |
3 | g.49122900T>G | CA433634186 | LAMB2 | c.4377A>C (p.Thr1459=) n.686A>C | dbSNP |
3 | g.49122900T= | CA1363339717 | LAMB2 | c.4377A= (p.Thr1459=) n.686A= | |
3 | g.49122901G>A | CA352693593 | LAMB2 | c.4376C>T (p.Thr1459Ile) n.685C>T | |
3 | g.49122901G>C | CA352693595 | LAMB2 | c.4376C>G (p.Thr1459Arg) n.685C>G | |
3 | g.49122901G>T | CA352693591 | LAMB2 | c.4376C>A (p.Thr1459Lys) n.685C>A | gnomAD v4 |
3 | g.49122901dup | CA2665695392 | LAMB2 | c.4376dup (p.Gln1460ThrfsTer13) n.685dup | gnomAD v4 |
3 | g.49122901_49122902insCCCGCTGCAGC | CA2577594204 | LAMB2 | c.4375_4376insGCTGCAGCGGG (p.Thr1459SerfsTer?) n.684_685insGCTGCAGCGGG | |
3 | g.49122902T>A | CA352693618 | LAMB2 | c.4375A>T (p.Thr1459Ser) n.684A>T | |
3 | g.49122902T>C | CA352693601 | LAMB2 | c.4375A>G (p.Thr1459Ala) n.684A>G | |
3 | g.49122902T>G | CA352693624 | LAMB2 | c.4375A>C (p.Thr1459Pro) n.684A>C | |
3 | g.49122903G>A | CA433634189 | LAMB2 | c.4374C>T (p.His1458=) n.683C>T | |
3 | g.49122903G>C | CA352693633 | LAMB2 | c.4374C>G (p.His1458Gln) n.683C>G | |
3 | g.49122903G>T | CA352693643 | LAMB2 | c.4374C>A (p.His1458Gln) n.683C>A | gnomAD v4 |
3 | g.49122904T>A | CA352693646 | LAMB2 | c.4373A>T (p.His1458Leu) n.682A>T | |
3 | g.49122904T>C | CA352693661 | LAMB2 | c.4373A>G (p.His1458Arg) n.682A>G | dbSNP |
3 | g.49122904T>G | CA352693651 | LAMB2 | c.4373A>C (p.His1458Pro) n.682A>C | |
3 | g.49122904T= | CA1363339718 | LAMB2 | c.4373A= (p.His1458=) n.682A= | |
3 | g.49122905G>A | CA352693665 | LAMB2 | c.4372C>T (p.His1458Tyr) n.681C>T | gnomAD v4 |
3 | g.49122905G>C | CA352693692 | LAMB2 | c.4372C>G (p.His1458Asp) n.681C>G | |
3 | g.49122905G>T | CA352693674 | LAMB2 | c.4372C>A (p.His1458Asn) n.681C>A | gnomAD v4 |
3 | g.49122906C>A | CA433634196 | LAMB2 | c.4371G>T (p.Arg1457=) n.680G>T | |
3 | g.49122906C>G | CA433634195 | LAMB2 | c.4371G>C (p.Arg1457=) n.680G>C | |
3 | g.49122906C>T | CA433634194 | LAMB2 | c.4371G>A (p.Arg1457=) n.680G>A | gnomAD v4 |
3 | g.49122907C>A | CA352693701 | LAMB2 | c.4370G>T (p.Arg1457Leu) n.679G>T | dbSNP gnomAD v2 |
3 | g.49122907C= | CA1363339722 | LAMB2 | c.4370G= (p.Arg1457=) n.679G= | |
3 | g.49122907C>G | CA352693704 | LAMB2 | c.4370G>C (p.Arg1457Pro) n.679G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122907C>T | CA2393803 | LAMB2 | c.4370G>A (p.Arg1457Gln) n.679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122908G>A | CA2393804 | LAMB2 | c.4369C>T (p.Arg1457Trp) n.678C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122908G>C | CA352693708 | LAMB2 | c.4369C>G (p.Arg1457Gly) n.678C>G | gnomAD v4 |
3 | g.49122908G= | CA1363339724 | LAMB2 | c.4369C= (p.Arg1457=) n.678C= | |
3 | g.49122908G>T | CA433634197 | LAMB2 | c.4369C>A (p.Arg1457=) n.678C>A | gnomAD v4 |
3 | g.49122909G>A | CA433634198 | LAMB2 | c.4368C>T (p.Ala1456=) n.677C>T | |
3 | g.49122909G>C | CA433634200 | LAMB2 | c.4368C>G (p.Ala1456=) n.677C>G | |
3 | g.49122909G>T | CA433634199 | LAMB2 | c.4368C>A (p.Ala1456=) n.677C>A | |
3 | g.49122910G>A | CA74476527 | LAMB2 | c.4367C>T (p.Ala1456Val) n.676C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122910G>C | CA352693737 | LAMB2 | c.4367C>G (p.Ala1456Gly) n.676C>G | |
3 | g.49122910G= | CA1363339727 | LAMB2 | c.4367C= (p.Ala1456=) n.676C= | |
3 | g.49122910G>T | CA352693741 | LAMB2 | c.4367C>A (p.Ala1456Asp) n.676C>A | gnomAD v4 |
3 | g.49122911C>A | CA352693751 | LAMB2 | c.4366G>T (p.Ala1456Ser) n.675G>T | |
3 | g.49122911C>G | CA352693752 | LAMB2 | c.4366G>C (p.Ala1456Pro) n.675G>C | |
3 | g.49122911C>T | CA352693753 | LAMB2 | c.4366G>A (p.Ala1456Thr) n.675G>A | gnomAD v4 |
3 | g.49122912C>A | CA433634202 | LAMB2 | c.4365G>T (p.Arg1455=) n.674G>T | gnomAD v4 |
3 | g.49122912C>G | CA433634203 | LAMB2 | c.4365G>C (p.Arg1455=) n.674G>C | |
3 | g.49122912C>T | CA433634204 | LAMB2 | c.4365G>A (p.Arg1455=) n.674G>A | |
3 | g.49122913C>A | CA352693763 | LAMB2 | c.4364G>T (p.Arg1455Leu) n.673G>T | |
3 | g.49122913C= | CA1363339730 | LAMB2 | c.4364G= (p.Arg1455=) n.673G= | |
3 | g.49122913C>G | CA352693760 | LAMB2 | c.4364G>C (p.Arg1455Pro) n.673G>C | ClinVar |
3 | g.49122913C>T | CA2393805 | LAMB2 | c.4364G>A (p.Arg1455Gln) n.673G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122914G>A | CA74476534 | LAMB2 | c.4363C>T (p.Arg1455Trp) n.672C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.49122914G>C | CA352693764 | LAMB2 | c.4363C>G (p.Arg1455Gly) n.672C>G | |
3 | g.49122914G= | CA1363339732 | LAMB2 | c.4363C= (p.Arg1455=) n.672C= | |
3 | g.49122914G>T | CA433634205 | LAMB2 | c.4363C>A (p.Arg1455=) n.672C>A | |
3 | g.49122915G>A | CA433634206 | LAMB2 | c.4362C>T (p.Gly1454=) n.671C>T | gnomAD v4 |
3 | g.49122915G>C | CA433634208 | LAMB2 | c.4362C>G (p.Gly1454=) n.671C>G | |
3 | g.49122915G>T | CA433634210 | LAMB2 | c.4362C>A (p.Gly1454=) n.671C>A | |
3 | g.49122916C>A | CA352693766 | LAMB2 | c.4361G>T (p.Gly1454Val) n.670G>T | |
3 | g.49122916C>G | CA352693770 | LAMB2 | c.4361G>C (p.Gly1454Ala) n.670G>C | |
3 | g.49122916C>T | CA352693781 | LAMB2 | c.4361G>A (p.Gly1454Asp) n.670G>A | |
3 | g.49122917C>A | CA352693783 | LAMB2 | c.4360G>T (p.Gly1454Cys) n.669G>T | |
3 | g.49122917C>G | CA352693786 | LAMB2 | c.4360G>C (p.Gly1454Arg) n.669G>C | |
3 | g.49122917C>T | CA352693788 | LAMB2 | c.4360G>A (p.Gly1454Ser) n.669G>A | |
3 | g.49122918C>A | CA433634212 | LAMB2 | c.4359G>T (p.Leu1453=) n.668G>T | |
3 | g.49122918C>G | CA433634213 | LAMB2 | c.4359G>C (p.Leu1453=) n.668G>C | |
3 | g.49122918C>T | CA433634214 | LAMB2 | c.4359G>A (p.Leu1453=) n.668G>A | |
3 | g.49122919A= | CA1363339733 | LAMB2 | c.4358T= (p.Leu1453=) n.667T= | |
3 | g.49122919A>C | CA352693790 | LAMB2 | c.4358T>G (p.Leu1453Arg) n.667T>G | |
3 | g.49122919A>G | CA352693793 | LAMB2 | c.4358T>C (p.Leu1453Pro) n.667T>C | dbSNP |
3 | g.49122919A>T | CA352693806 | LAMB2 | c.4358T>A (p.Leu1453Gln) n.667T>A | |
3 | g.49122920G>A | CA433634215 | LAMB2 | c.4357C>T (p.Leu1453=) n.666C>T | |
3 | g.49122920G>C | CA352693827 | LAMB2 | c.4357C>G (p.Leu1453Val) n.666C>G | gnomAD v4 |
3 | g.49122920G>T | CA352693822 | LAMB2 | c.4357C>A (p.Leu1453Met) n.666C>A | gnomAD v4 |
3 | g.49122921T>A | CA74476535 | LAMB2 | c.4356A>T (p.Ala1452=) n.665A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.49122921T>C | CA433634219 | LAMB2 | c.4356A>G (p.Ala1452=) n.665A>G | |
3 | g.49122921T>G | CA433634220 | LAMB2 | c.4356A>C (p.Ala1452=) n.665A>C | |
3 | g.49122921T= | CA1363339735 | LAMB2 | c.4356A= (p.Ala1452=) n.665A= | |
3 | g.49122922G>A | CA352693837 | LAMB2 | c.4355C>T (p.Ala1452Val) n.664C>T | |
3 | g.49122922G>C | CA352693838 | LAMB2 | c.4355C>G (p.Ala1452Gly) n.664C>G | |
3 | g.49122922G>T | CA352693839 | LAMB2 | c.4355C>A (p.Ala1452Glu) n.664C>A | gnomAD v4 |
3 | g.49122923C>A | CA352693840 | LAMB2 | c.4354G>T (p.Ala1452Ser) n.663G>T | |
3 | g.49122923C>G | CA352693841 | LAMB2 | c.4354G>C (p.Ala1452Pro) n.663G>C | |
3 | g.49122923C>T | CA352693842 | LAMB2 | c.4354G>A (p.Ala1452Thr) n.663G>A | |
3 | g.49122924T>A | CA433634221 | LAMB2 | c.4353A>T (p.Leu1451=) n.662A>T | |
3 | g.49122924T>C | CA433634223 | LAMB2 | c.4353A>G (p.Leu1451=) n.662A>G | |
3 | g.49122924T>G | CA433634222 | LAMB2 | c.4353A>C (p.Leu1451=) n.662A>C | |
3 | g.49122925A>C | CA352693844 | LAMB2 | c.4352T>G (p.Leu1451Arg) n.661T>G | |
3 | g.49122925A>G | CA352693851 | LAMB2 | c.4352T>C (p.Leu1451Pro) n.661T>C | |
3 | g.49122925A>T | CA352693847 | LAMB2 | c.4352T>A (p.Leu1451Gln) n.661T>A | |
3 | g.49122926G>A | CA433634225 | LAMB2 | c.4351C>T (p.Leu1451=) n.660C>T | gnomAD v4 |
3 | g.49122926G>C | CA352693864 | LAMB2 | c.4351C>G (p.Leu1451Val) n.660C>G | dbSNP |
3 | g.49122926G= | CA1363339737 | LAMB2 | c.4351C= (p.Leu1451=) n.660C= | |
3 | g.49122926G>T | CA352693866 | LAMB2 | c.4351C>A (p.Leu1451Ile) n.660C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122927G>A | CA433634226 | LAMB2 | c.4350C>T (p.Asp1450=) n.659C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122927G>C | CA352693871 | LAMB2 | c.4350C>G (p.Asp1450Glu) n.659C>G | |
3 | g.49122927G= | CA1363339738 | LAMB2 | c.4350C= (p.Asp1450=) n.659C= | |
3 | g.49122927G>T | CA352693874 | LAMB2 | c.4350C>A (p.Asp1450Glu) n.659C>A | gnomAD v4 |
3 | g.49122928T>A | CA352693877 | LAMB2 | c.4349A>T (p.Asp1450Val) n.658A>T | |
3 | g.49122928T>C | CA352693884 | LAMB2 | c.4349A>G (p.Asp1450Gly) n.658A>G | ClinVar dbSNP |
3 | g.49122928T>G | CA352693880 | LAMB2 | c.4349A>C (p.Asp1450Ala) n.658A>C | |
3 | g.49122929C>A | CA352693892 | LAMB2 | c.4348G>T (p.Asp1450Tyr) n.657G>T | gnomAD v4 |
3 | g.49122929C>G | CA352693899 | LAMB2 | c.4348G>C (p.Asp1450His) n.657G>C | |
3 | g.49122929C>T | CA352693904 | LAMB2 | c.4348G>A (p.Asp1450Asn) n.657G>A | |
3 | g.49122930T>A | CA433634227 | LAMB2 | c.4347A>T (p.Ala1449=) n.656A>T | |
3 | g.49122930T>C | CA433634228 | LAMB2 | c.4347A>G (p.Ala1449=) n.656A>G | |
3 | g.49122930T>G | CA2393806 | LAMB2 | c.4347A>C (p.Ala1449=) n.656A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122930T= | CA1363339740 | LAMB2 | c.4347A= (p.Ala1449=) n.656A= | |
3 | g.49122931G>A | CA352693911 | LAMB2 | c.4346C>T (p.Ala1449Val) n.655C>T | gnomAD v4 |
3 | g.49122931G>C | CA352693915 | LAMB2 | c.4346C>G (p.Ala1449Gly) n.655C>G | |
3 | g.49122931G>T | CA352693916 | LAMB2 | c.4346C>A (p.Ala1449Glu) n.655C>A | gnomAD v4 |
3 | g.49122932C>A | CA352693927 | LAMB2 | c.4345G>T (p.Ala1449Ser) n.654G>T | |
3 | g.49122932C>G | CA352693931 | LAMB2 | c.4345G>C (p.Ala1449Pro) n.654G>C | |
3 | g.49122932C>T | CA352693932 | LAMB2 | c.4345G>A (p.Ala1449Thr) n.654G>A | |
3 | g.49122932_49122933insCA | CA2531236265 | LAMB2 | c.4344_4345insTG (p.Ala1449TrpfsTer4) n.653_654insTG | |
3 | g.49122933T>A | CA433634230 | LAMB2 | c.4344A>T (p.Thr1448=) n.653A>T | |
3 | g.49122933T>C | CA433634231 | LAMB2 | c.4344A>G (p.Thr1448=) n.653A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122933T>G | CA433634232 | LAMB2 | c.4344A>C (p.Thr1448=) n.653A>C | |
3 | g.49122933T= | CA1363339743 | LAMB2 | c.4344A= (p.Thr1448=) n.653A= | |
3 | g.49122934G>A | CA2393807 | LAMB2 | c.4343C>T (p.Thr1448Ile) n.652C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49122934G>C | CA352693943 | LAMB2 | c.4343C>G (p.Thr1448Arg) n.652C>G | |
3 | g.49122934G= | CA1363339745 | LAMB2 | c.4343C= (p.Thr1448=) n.652C= | |
3 | g.49122934G>T | CA352693936 | LAMB2 | c.4343C>A (p.Thr1448Lys) n.652C>A | gnomAD v4 |
3 | g.49122935T>A | CA352693957 | LAMB2 | c.4342A>T (p.Thr1448Ser) n.651A>T | |
3 | g.49122935T>C | CA2393808 | LAMB2 | c.4342A>G (p.Thr1448Ala) n.651A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.49122935T>G | CA352693980 | LAMB2 | c.4342A>C (p.Thr1448Pro) n.651A>C | |
3 | g.49122935T= | CA1363339748 | LAMB2 | c.4342A= (p.Thr1448=) n.651A= | |
3 | g.49122935_49122936del | CA2558497053 | LAMB2 | c.4341_4342del (p.Thr1448SerfsTer24) n.650_651del | |
3 | g.49122936A= | CA1363339749 | LAMB2 | c.4341T= (p.Ala1447=) n.650T= | |
3 | g.49122936A>C | CA433634233 | LAMB2 | c.4341T>G (p.Ala1447=) n.650T>G | |
3 | g.49122936A>G | CA74476556 | LAMB2 | c.4341T>C (p.Ala1447=) n.650T>C | dbSNP gnomAD v4 |
3 | g.49122936A>T | CA433634235 | LAMB2 | c.4341T>A (p.Ala1447=) n.650T>A | |
3 | g.49122937G>A | CA352693998 | LAMB2 | c.4340C>T (p.Ala1447Val) n.649C>T | gnomAD v4 |
3 | g.49122937G>C | CA352694005 | LAMB2 | c.4340C>G (p.Ala1447Gly) n.649C>G | |
3 | g.49122937G>T | CA352694009 | LAMB2 | c.4340C>A (p.Ala1447Asp) n.649C>A | gnomAD v4 |
3 | g.49122938C>A | CA352694021 | LAMB2 | c.4339G>T (p.Ala1447Ser) n.648G>T | |
3 | g.49122938C= | CA1363339751 | LAMB2 | c.4339G= (p.Ala1447=) n.648G= | |
3 | g.49122938C>G | CA352694027 | LAMB2 | c.4339G>C (p.Ala1447Pro) n.648G>C | |
3 | g.49122938C>T | CA352694029 | LAMB2 | c.4339G>A (p.Ala1447Thr) n.648G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122939C>A | CA433634238 | LAMB2 | c.4338G>T (p.Ala1446=) n.647G>T | |
3 | g.49122939C= | CA1363339753 | LAMB2 | c.4338G= (p.Ala1446=) n.647G= | |
3 | g.49122939C>G | CA433634240 | LAMB2 | c.4338G>C (p.Ala1446=) n.647G>C | |
3 | g.49122939C>T | CA2393809 | LAMB2 | c.4338G>A (p.Ala1446=) n.647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122940G>A | CA2393810 | LAMB2 | c.4337C>T (p.Ala1446Val) n.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.49122940G>C | CA352694036 | LAMB2 | c.4337C>G (p.Ala1446Gly) n.646C>G | gnomAD v4 |
3 | g.49122940G= | CA1363339755 | LAMB2 | c.4337C= (p.Ala1446=) n.646C= | |
3 | g.49122940G>T | CA352694041 | LAMB2 | c.4337C>A (p.Ala1446Glu) n.646C>A | gnomAD v4 |
3 | g.49122941C>A | CA352694049 | LAMB2 | c.4336G>T (p.Ala1446Ser) n.645G>T | |
3 | g.49122941C>G | CA352694046 | LAMB2 | c.4336G>C (p.Ala1446Pro) n.645G>C | |
3 | g.49122941C>T | CA352694044 | LAMB2 | c.4336G>A (p.Ala1446Thr) n.645G>A | |
3 | g.49122942T>A | CA433634241 | LAMB2 | c.4335A>T (p.Ala1445=) n.644A>T | |
3 | g.49122942T>C | CA433634242 | LAMB2 | c.4335A>G (p.Ala1445=) n.644A>G | |
3 | g.49122942T>G | CA433634243 | LAMB2 | c.4335A>C (p.Ala1445=) n.644A>C | |
3 | g.49122943G>A | CA352694057 | LAMB2 | c.4334C>T (p.Ala1445Val) n.643C>T | gnomAD v4 |
3 | g.49122943G>C | CA352694061 | LAMB2 | c.4334C>G (p.Ala1445Gly) n.643C>G | |
3 | g.49122943G>T | CA352694069 | LAMB2 | c.4334C>A (p.Ala1445Glu) n.643C>A | gnomAD v4 COSMIC |
3 | g.49122944C>A | CA352694076 | LAMB2 | c.4333G>T (p.Ala1445Ser) n.642G>T | |
3 | g.49122944C>G | CA352694084 | LAMB2 | c.4333G>C (p.Ala1445Pro) n.642G>C | |
3 | g.49122944C>T | CA352694086 | LAMB2 | c.4333G>A (p.Ala1445Thr) n.642G>A | gnomAD v4 |
3 | g.49122945C>A | CA433634249 | LAMB2 | c.4332G>T (p.Gly1444=) n.641G>T | |
3 | g.49122945C= | CA1363339757 | LAMB2 | c.4332G= (p.Gly1444=) n.641G= | |
3 | g.49122945C>G | CA433634248 | LAMB2 | c.4332G>C (p.Gly1444=) n.641G>C | |
3 | g.49122945C>T | CA433634247 | LAMB2 | c.4332G>A (p.Gly1444=) n.641G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122946C>A | CA352694089 | LAMB2 | c.4331G>T (p.Gly1444Val) n.640G>T | |
3 | g.49122946C= | CA1363339759 | LAMB2 | c.4331G= (p.Gly1444=) n.640G= | |
3 | g.49122946C>G | CA352694091 | LAMB2 | c.4331G>C (p.Gly1444Ala) n.640G>C | dbSNP |
3 | g.49122946C>T | CA352694093 | LAMB2 | c.4331G>A (p.Gly1444Glu) n.640G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122947C>A | CA352694096 | LAMB2 | c.4330G>T (p.Gly1444Trp) n.639G>T | |
3 | g.49122947C>G | CA352694098 | LAMB2 | c.4330G>C (p.Gly1444Arg) n.639G>C | |
3 | g.49122947C>T | CA352694101 | LAMB2 | c.4330G>A (p.Gly1444Arg) n.639G>A | |
3 | g.49122948A>C | CA352694106 | LAMB2 | c.4329T>G (p.Asn1443Lys) n.638T>G | |
3 | g.49122948A>G | CA433633906 | LAMB2 | c.4329T>C (p.Asn1443=) n.638T>C | |
3 | g.49122948A>T | CA352694105 | LAMB2 | c.4329T>A (p.Asn1443Lys) n.638T>A | |
3 | g.49122949T>A | CA352694109 | LAMB2 | c.4328A>T (p.Asn1443Ile) n.637A>T | |
3 | g.49122949T>C | CA352694111 | LAMB2 | c.4328A>G (p.Asn1443Ser) n.637A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122949T>G | CA352694121 | LAMB2 | c.4328A>C (p.Asn1443Thr) n.637A>C | |
3 | g.49122949T= | CA1363339760 | LAMB2 | c.4328A= (p.Asn1443=) n.637A= | |
3 | g.49122950T>A | CA352694124 | LAMB2 | c.4327A>T (p.Asn1443Tyr) n.636A>T | |
3 | g.49122950T>C | CA352694125 | LAMB2 | c.4327A>G (p.Asn1443Asp) n.636A>G | |
3 | g.49122950T>G | CA352694126 | LAMB2 | c.4327A>C (p.Asn1443His) n.636A>C | |
3 | g.49122950_49122953delinsTGCA | CA1363339762 | LAMB2 | c.4324_4327delinsTGCA (p.Cys1442=) n.633_636delinsTGCA | |
3 | g.49122951G>A | CA433633907 | LAMB2 | c.4326C>T (p.Cys1442=) n.635C>T | |
3 | g.49122951G>C | CA352694128 | LAMB2 | c.4326C>G (p.Cys1442Trp) n.635C>G | |
3 | g.49122951G>T | CA352694130 | LAMB2 | c.4326C>A (p.Cys1442Ter) n.635C>A | gnomAD v4 |
3 | g.49122953_49122955del | CA907804851 | LAMB2 | c.4324_4326del (p.Cys1442del) n.633_635del | dbSNP gnomAD v4 |
3 | g.49122952C>A | CA352694135 | LAMB2 | c.4325G>T (p.Cys1442Phe) n.634G>T | |
3 | g.49122952C= | CA1363339766 | LAMB2 | c.4325G= (p.Cys1442=) n.634G= | |
3 | g.49122952C>G | CA352694137 | LAMB2 | c.4325G>C (p.Cys1442Ser) n.634G>C | |
3 | g.49122952C>T | CA352694139 | LAMB2 | c.4325G>A (p.Cys1442Tyr) n.634G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122953A>C | CA352694143 | LAMB2 | c.4324T>G (p.Cys1442Gly) n.633T>G | |
3 | g.49122953A>G | CA352694148 | LAMB2 | c.4324T>C (p.Cys1442Arg) n.633T>C | |
3 | g.49122953A>T | CA352694152 | LAMB2 | c.4324T>A (p.Cys1442Ser) n.633T>A | |
3 | g.49122954G>A | CA433633908 | LAMB2 | c.4323C>T (p.Ser1441=) n.632C>T | dbSNP gnomAD v4 |
3 | g.49122954G>C | CA352694168 | LAMB2 | c.4323C>G (p.Ser1441Arg) n.632C>G | ClinVar dbSNP gnomAD v4 |
3 | g.49122954G= | CA1363339768 | LAMB2 | c.4323C= (p.Ser1441=) n.632C= | |
3 | g.49122954G>T | CA352694178 | LAMB2 | c.4323C>A (p.Ser1441Arg) n.632C>A | gnomAD v4 |
3 | g.49122955C>A | CA352694189 | LAMB2 | c.4322G>T (p.Ser1441Ile) n.631G>T | |
3 | g.49122955C>G | CA352694196 | LAMB2 | c.4322G>C (p.Ser1441Thr) n.631G>C | |
3 | g.49122955C>T | CA352694200 | LAMB2 | c.4322G>A (p.Ser1441Asn) n.631G>A | |
3 | g.49122956T>A | CA352694208 | LAMB2 | c.4321A>T (p.Ser1441Cys) n.630A>T | |
3 | g.49122956T>C | CA352694212 | LAMB2 | c.4321A>G (p.Ser1441Gly) n.630A>G | |
3 | g.49122956T>G | CA352694216 | LAMB2 | c.4321A>C (p.Ser1441Arg) n.630A>C | |
3 | g.49122957G>A | CA433633909 | LAMB2 | c.4320C>T (p.Leu1440=) n.629C>T | |
3 | g.49122957G>C | CA433633910 | LAMB2 | c.4320C>G (p.Leu1440=) n.629C>G | COSMIC |
3 | g.49122957G>T | CA433633911 | LAMB2 | c.4320C>A (p.Leu1440=) n.629C>A | gnomAD v4 |
3 | g.49122958A>C | CA352694221 | LAMB2 | c.4319T>G (p.Leu1440Arg) n.628T>G | |
3 | g.49122958A>G | CA352694222 | LAMB2 | c.4319T>C (p.Leu1440Pro) n.628T>C | |
3 | g.49122958A>T | CA352694223 | LAMB2 | c.4319T>A (p.Leu1440His) n.628T>A | |
3 | g.49122959G>A | CA352694225 | LAMB2 | c.4318C>T (p.Leu1440Phe) n.627C>T | |
3 | g.49122959G>C | CA352694227 | LAMB2 | c.4318C>G (p.Leu1440Val) n.627C>G | |
3 | g.49122959G>T | CA352694229 | LAMB2 | c.4318C>A (p.Leu1440Ile) n.627C>A | gnomAD v4 |
3 | g.49122960G>A | CA433633912 | LAMB2 | c.4317C>T (p.Gly1439=) n.626C>T | |
3 | g.49122960G>C | CA433633913 | LAMB2 | c.4317C>G (p.Gly1439=) n.626C>G | |
3 | g.49122960G= | CA1363339771 | LAMB2 | c.4317C= (p.Gly1439=) n.626C= | |
3 | g.49122960G>T | CA433633914 | LAMB2 | c.4317C>A (p.Gly1439=) n.626C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.49122961C>A | CA352694238 | LAMB2 | c.4316G>T (p.Gly1439Val) n.625G>T | |
3 | g.49122961C>G | CA352694237 | LAMB2 | c.4316G>C (p.Gly1439Ala) n.625G>C | |
3 | g.49122961C>T | CA352694233 | LAMB2 | c.4316G>A (p.Gly1439Asp) n.625G>A | |
3 | g.49122965dup | CA2665695425 | LAMB2 | c.4316dup (p.Leu1440ProfsTer?) n.625dup | gnomAD v4 |
3 | g.49122965del | CA2665695426 | LAMB2 | c.4316del (p.Gly1439AlafsTer13) n.625del | gnomAD v4 |
3 | g.49122962C>A | CA352694240 | LAMB2 | c.4315G>T (p.Gly1439Cys) n.624G>T | |
3 | g.49122962C= | CA1363339773 | LAMB2 | c.4315G= (p.Gly1439=) n.624G= | |
3 | g.49122962C>G | CA352694253 | LAMB2 | c.4315G>C (p.Gly1439Arg) n.624G>C | |
3 | g.49122962C>T | CA2393811 | LAMB2 | c.4315G>A (p.Gly1439Ser) n.624G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122963C>A | CA433633915 | LAMB2 | c.4314G>T (p.Gly1438=) n.623G>T | |
3 | g.49122963C= | CA1363339775 | LAMB2 | c.4314G= (p.Gly1438=) n.623G= | |
3 | g.49122963C>G | CA433633916 | LAMB2 | c.4314G>C (p.Gly1438=) n.623G>C | dbSNP |
3 | g.49122963C>T | CA433633917 | LAMB2 | c.4314G>A (p.Gly1438=) n.623G>A | |
3 | g.49122964C>A | CA352694258 | LAMB2 | c.4313G>T (p.Gly1438Val) n.622G>T | gnomAD v4 |
3 | g.49122964C>G | CA352694261 | LAMB2 | c.4313G>C (p.Gly1438Ala) n.622G>C | |
3 | g.49122964C>T | CA352694260 | LAMB2 | c.4313G>A (p.Gly1438Glu) n.622G>A | |
3 | g.49122965C>A | CA352694263 | LAMB2 | c.4312G>T (p.Gly1438Trp) n.621G>T | |
3 | g.49122965C>G | CA352694268 | LAMB2 | c.4312G>C (p.Gly1438Arg) n.621G>C | gnomAD v4 |
3 | g.49122965C>T | CA352694275 | LAMB2 | c.4312G>A (p.Gly1438Arg) n.621G>A | gnomAD v4 |
3 | g.49122966A>C | CA352694280 | LAMB2 | c.4311T>G (p.Cys1437Trp) n.620T>G | |
3 | g.49122966A>G | CA433633918 | LAMB2 | c.4311T>C (p.Cys1437=) n.620T>C | |
3 | g.49122966A>T | CA352694283 | LAMB2 | c.4311T>A (p.Cys1437Ter) n.620T>A | |
3 | g.49122967C>A | CA352694291 | LAMB2 | c.4310G>T (p.Cys1437Phe) n.619G>T | |
3 | g.49122967C>G | CA352694293 | LAMB2 | c.4310G>C (p.Cys1437Ser) n.619G>C | |
3 | g.49122967C>T | CA352694296 | LAMB2 | c.4310G>A (p.Cys1437Tyr) n.619G>A | gnomAD v4 |
3 | g.49122968A>C | CA352694300 | LAMB2 | c.4309T>G (p.Cys1437Gly) n.618T>G | |
3 | g.49122968A>G | CA352694301 | LAMB2 | c.4309T>C (p.Cys1437Arg) n.618T>C | |
3 | g.49122968A>T | CA352694302 | LAMB2 | c.4309T>A (p.Cys1437Ser) n.618T>A | |
3 | g.49122969G>A | CA2393812 | LAMB2 | c.4308C>T (p.Arg1436=) n.617C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122969G>C | CA433633920 | LAMB2 | c.4308C>G (p.Arg1436=) n.617C>G | |
3 | g.49122969G= | CA1363339779 | LAMB2 | c.4308C= (p.Arg1436=) n.617C= | |
3 | g.49122969G>T | CA433633919 | LAMB2 | c.4308C>A (p.Arg1436=) n.617C>A | gnomAD v4 |
3 | g.49122970C>A | CA352694309 | LAMB2 | c.4307G>T (p.Arg1436Leu) n.616G>T | |
3 | g.49122970C= | CA1363339784 | LAMB2 | c.4307G= (p.Arg1436=) n.616G= | |
3 | g.49122970C>G | CA352694310 | LAMB2 | c.4307G>C (p.Arg1436Pro) n.616G>C | |
3 | g.49122970C>T | CA2393813 | LAMB2 | c.4307G>A (p.Arg1436His) n.616G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122971G>A | CA2393814 | LAMB2 | c.4306C>T (p.Arg1436Cys) n.615C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122971G>C | CA352694318 | LAMB2 | c.4306C>G (p.Arg1436Gly) n.615C>G | |
3 | g.49122971G= | CA1363339787 | LAMB2 | c.4306C= (p.Arg1436=) n.615C= | |
3 | g.49122971G>T | CA352694325 | LAMB2 | c.4306C>A (p.Arg1436Ser) n.615C>A | gnomAD v4 |
3 | g.49122972C>A | CA433633922 | LAMB2 | c.4305G>T (p.Pro1435=) n.614G>T | gnomAD v4 |
3 | g.49122972C= | CA1363339791 | LAMB2 | c.4305G= (p.Pro1435=) n.614G= | |
3 | g.49122972C>G | CA433633921 | LAMB2 | c.4305G>C (p.Pro1435=) n.614G>C | dbSNP |
3 | g.49122972C>T | CA2393815 | LAMB2 | c.4305G>A (p.Pro1435=) n.614G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122973G>A | CA2393816 | LAMB2 | c.4304C>T (p.Pro1435Leu) n.613C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49122973G>C | CA352694330 | LAMB2 | c.4304C>G (p.Pro1435Arg) n.613C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.49122973G= | CA1363339794 | LAMB2 | c.4304C= (p.Pro1435=) n.613C= | |
3 | g.49122973G>T | CA352694331 | LAMB2 | c.4304C>A (p.Pro1435Gln) n.613C>A | gnomAD v4 |
3 | g.49122974G>A | CA352694340 | LAMB2 | c.4303C>T (p.Pro1435Ser) n.612C>T | gnomAD v4 |
3 | g.49122974G>C | CA352694356 | LAMB2 | c.4303C>G (p.Pro1435Ala) n.612C>G | |
3 | g.49122974G>T | CA352694359 | LAMB2 | c.4303C>A (p.Pro1435Thr) n.612C>A | gnomAD v4 |