Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.74503300G>A | CA7268627 | LTBP2 | c.4807C>T (p.Arg1603Cys) c.4675C>T (p.Arg1559Cys) c.4426C>T (p.Arg1476Cys) c.4348C>T (p.Arg1450Cys) c.4324C>T (p.Arg1442Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503300G>C | CA390384616 | LTBP2 | c.4807C>G (p.Arg1603Gly) c.4675C>G (p.Arg1559Gly) c.4426C>G (p.Arg1476Gly) c.4348C>G (p.Arg1450Gly) c.4324C>G (p.Arg1442Gly) | |
14 | g.74503300G= | CA2147075210 | LTBP2 | c.4807C= (p.Arg1603=) c.4675C= (p.Arg1559=) c.4426C= (p.Arg1476=) c.4348C= (p.Arg1450=) c.4324C= (p.Arg1442=) | |
14 | g.74503300G>T | CA390384614 | LTBP2 | c.4807C>A (p.Arg1603Ser) c.4675C>A (p.Arg1559Ser) c.4426C>A (p.Arg1476Ser) c.4348C>A (p.Arg1450Ser) c.4324C>A (p.Arg1442Ser) | |
14 | g.74503301G>A | CA487267132 | LTBP2 | c.4806C>T (p.His1602=) c.4674C>T (p.His1558=) c.4425C>T (p.His1475=) c.4347C>T (p.His1449=) c.4323C>T (p.His1441=) | |
14 | g.74503301G>C | CA390384618 | LTBP2 | c.4806C>G (p.His1602Gln) c.4674C>G (p.His1558Gln) c.4425C>G (p.His1475Gln) c.4347C>G (p.His1449Gln) c.4323C>G (p.His1441Gln) | |
14 | g.74503301G>T | CA390384619 | LTBP2 | c.4806C>A (p.His1602Gln) c.4674C>A (p.His1558Gln) c.4425C>A (p.His1475Gln) c.4347C>A (p.His1449Gln) c.4323C>A (p.His1441Gln) | |
14 | g.74503302T>A | CA390384621 | LTBP2 | c.4805A>T (p.His1602Leu) c.4673A>T (p.His1558Leu) c.4424A>T (p.His1475Leu) c.4346A>T (p.His1449Leu) c.4322A>T (p.His1441Leu) | |
14 | g.74503302T>C | CA390384623 | LTBP2 | c.4805A>G (p.His1602Arg) c.4673A>G (p.His1558Arg) c.4424A>G (p.His1475Arg) c.4346A>G (p.His1449Arg) c.4322A>G (p.His1441Arg) | gnomAD v3 gnomAD v4 |
14 | g.74503302T>G | CA390384624 | LTBP2 | c.4805A>C (p.His1602Pro) c.4673A>C (p.His1558Pro) c.4424A>C (p.His1475Pro) c.4346A>C (p.His1449Pro) c.4322A>C (p.His1441Pro) | |
14 | g.74503303G>A | CA7268628 | LTBP2 | c.4804C>T (p.His1602Tyr) c.4672C>T (p.His1558Tyr) c.4423C>T (p.His1475Tyr) c.4345C>T (p.His1449Tyr) c.4321C>T (p.His1441Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503303G>C | CA390384629 | LTBP2 | c.4804C>G (p.His1602Asp) c.4672C>G (p.His1558Asp) c.4423C>G (p.His1475Asp) c.4345C>G (p.His1449Asp) c.4321C>G (p.His1441Asp) | |
14 | g.74503303G= | CA2147075213 | LTBP2 | c.4804C= (p.His1602=) c.4672C= (p.His1558=) c.4423C= (p.His1475=) c.4345C= (p.His1449=) c.4321C= (p.His1441=) | |
14 | g.74503303G>T | CA390384627 | LTBP2 | c.4804C>A (p.His1602Asn) c.4672C>A (p.His1558Asn) c.4423C>A (p.His1475Asn) c.4345C>A (p.His1449Asn) c.4321C>A (p.His1441Asn) | dbSNP |
14 | g.74503304C>A | CA487267133 | LTBP2 | c.4803G>T (p.Gly1601=) c.4671G>T (p.Gly1557=) c.4422G>T (p.Gly1474=) c.4344G>T (p.Gly1448=) c.4320G>T (p.Gly1440=) | |
14 | g.74503304C>G | CA487267134 | LTBP2 | c.4803G>C (p.Gly1601=) c.4671G>C (p.Gly1557=) c.4422G>C (p.Gly1474=) c.4344G>C (p.Gly1448=) c.4320G>C (p.Gly1440=) | |
14 | g.74503304C>T | CA487267135 | LTBP2 | c.4803G>A (p.Gly1601=) c.4671G>A (p.Gly1557=) c.4422G>A (p.Gly1474=) c.4344G>A (p.Gly1448=) c.4320G>A (p.Gly1440=) | gnomAD v4 |
14 | g.74503306del | CA2625668486 | LTBP2 | c.4803del (p.His1602ThrfsTer?) c.4671del (p.His1558ThrfsTer?) c.4422del (p.His1475ThrfsTer?) c.4344del (p.His1449ThrfsTer?) c.4320del (p.His1441ThrfsTer?) | gnomAD v4 |
14 | g.74503305C>A | CA390384633 | LTBP2 | c.4802G>T (p.Gly1601Val) c.4670G>T (p.Gly1557Val) c.4421G>T (p.Gly1474Val) c.4343G>T (p.Gly1448Val) c.4319G>T (p.Gly1440Val) | |
14 | g.74503305C>G | CA390384631 | LTBP2 | c.4802G>C (p.Gly1601Ala) c.4670G>C (p.Gly1557Ala) c.4421G>C (p.Gly1474Ala) c.4343G>C (p.Gly1448Ala) c.4319G>C (p.Gly1440Ala) | |
14 | g.74503305C>T | CA390384635 | LTBP2 | c.4802G>A (p.Gly1601Glu) c.4670G>A (p.Gly1557Glu) c.4421G>A (p.Gly1474Glu) c.4343G>A (p.Gly1448Glu) c.4319G>A (p.Gly1440Glu) | gnomAD v4 COSMIC |
14 | g.74503306C>A | CA390384637 | LTBP2 | c.4801G>T (p.Gly1601Trp) c.4669G>T (p.Gly1557Trp) c.4420G>T (p.Gly1474Trp) c.4342G>T (p.Gly1448Trp) c.4318G>T (p.Gly1440Trp) | |
14 | g.74503306C>G | CA390384639 | LTBP2 | c.4801G>C (p.Gly1601Arg) c.4669G>C (p.Gly1557Arg) c.4420G>C (p.Gly1474Arg) c.4342G>C (p.Gly1448Arg) c.4318G>C (p.Gly1440Arg) | |
14 | g.74503306C>T | CA390384641 | LTBP2 | c.4801G>A (p.Gly1601Arg) c.4669G>A (p.Gly1557Arg) c.4420G>A (p.Gly1474Arg) c.4342G>A (p.Gly1448Arg) c.4318G>A (p.Gly1440Arg) | |
14 | g.74503307A= | CA2147075215 | LTBP2 | c.4800T= (p.Arg1600=) c.4668T= (p.Arg1556=) c.4419T= (p.Arg1473=) c.4341T= (p.Arg1447=) c.4317T= (p.Arg1439=) | |
14 | g.74503307A>C | CA487267136 | LTBP2 | c.4800T>G (p.Arg1600=) c.4668T>G (p.Arg1556=) c.4419T>G (p.Arg1473=) c.4341T>G (p.Arg1447=) c.4317T>G (p.Arg1439=) | |
14 | g.74503307A>G | CA487267137 | LTBP2 | c.4800T>C (p.Arg1600=) c.4668T>C (p.Arg1556=) c.4419T>C (p.Arg1473=) c.4341T>C (p.Arg1447=) c.4317T>C (p.Arg1439=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74503307A>T | CA487267138 | LTBP2 | c.4800T>A (p.Arg1600=) c.4668T>A (p.Arg1556=) c.4419T>A (p.Arg1473=) c.4341T>A (p.Arg1447=) c.4317T>A (p.Arg1439=) | |
14 | g.74503308C>A | CA390384642 | LTBP2 | c.4799G>T (p.Arg1600Leu) c.4667G>T (p.Arg1556Leu) c.4418G>T (p.Arg1473Leu) c.4340G>T (p.Arg1447Leu) c.4316G>T (p.Arg1439Leu) | ClinVar |
14 | g.74503308C= | CA2147075217 | LTBP2 | c.4799G= (p.Arg1600=) c.4667G= (p.Arg1556=) c.4418G= (p.Arg1473=) c.4340G= (p.Arg1447=) c.4316G= (p.Arg1439=) | |
14 | g.74503308C>G | CA390384644 | LTBP2 | c.4799G>C (p.Arg1600Pro) c.4667G>C (p.Arg1556Pro) c.4418G>C (p.Arg1473Pro) c.4340G>C (p.Arg1447Pro) c.4316G>C (p.Arg1439Pro) | |
14 | g.74503308C>T | CA7268629 | LTBP2 | c.4799G>A (p.Arg1600His) c.4667G>A (p.Arg1556His) c.4418G>A (p.Arg1473His) c.4340G>A (p.Arg1447His) c.4316G>A (p.Arg1439His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.74503309G>A | CA7268630 | LTBP2 | c.4798C>T (p.Arg1600Cys) c.4666C>T (p.Arg1556Cys) c.4417C>T (p.Arg1473Cys) c.4339C>T (p.Arg1447Cys) c.4315C>T (p.Arg1439Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.74503309G>C | CA390384648 | LTBP2 | c.4798C>G (p.Arg1600Gly) c.4666C>G (p.Arg1556Gly) c.4417C>G (p.Arg1473Gly) c.4339C>G (p.Arg1447Gly) c.4315C>G (p.Arg1439Gly) | |
14 | g.74503309G= | CA2147075219 | LTBP2 | c.4798C= (p.Arg1600=) c.4666C= (p.Arg1556=) c.4417C= (p.Arg1473=) c.4339C= (p.Arg1447=) c.4315C= (p.Arg1439=) | |
14 | g.74503309G>T | CA390384649 | LTBP2 | c.4798C>A (p.Arg1600Ser) c.4666C>A (p.Arg1556Ser) c.4417C>A (p.Arg1473Ser) c.4339C>A (p.Arg1447Ser) c.4315C>A (p.Arg1439Ser) | gnomAD v4 |
14 | g.74503310C>A | CA487267140 | LTBP2 | c.4797G>T (p.Leu1599=) c.4665G>T (p.Leu1555=) c.4416G>T (p.Leu1472=) c.4338G>T (p.Leu1446=) c.4314G>T (p.Leu1438=) | |
14 | g.74503310C= | CA2147075222 | LTBP2 | c.4797G= (p.Leu1599=) c.4665G= (p.Leu1555=) c.4416G= (p.Leu1472=) c.4338G= (p.Leu1446=) c.4314G= (p.Leu1438=) | |
14 | g.74503310C>G | CA487267139 | LTBP2 | c.4797G>C (p.Leu1599=) c.4665G>C (p.Leu1555=) c.4416G>C (p.Leu1472=) c.4338G>C (p.Leu1446=) c.4314G>C (p.Leu1438=) | dbSNP |
14 | g.74503310C>T | CA7268631 | LTBP2 | c.4797G>A (p.Leu1599=) c.4665G>A (p.Leu1555=) c.4416G>A (p.Leu1472=) c.4338G>A (p.Leu1446=) c.4314G>A (p.Leu1438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503311A= | CA2147075231 | LTBP2 | c.4796T= (p.Leu1599=) c.4664T= (p.Leu1555=) c.4415T= (p.Leu1472=) c.4337T= (p.Leu1446=) c.4313T= (p.Leu1438=) | |
14 | g.74503311A>C | CA390384653 | LTBP2 | c.4796T>G (p.Leu1599Arg) c.4664T>G (p.Leu1555Arg) c.4415T>G (p.Leu1472Arg) c.4337T>G (p.Leu1446Arg) c.4313T>G (p.Leu1438Arg) | |
14 | g.74503311A>G | CA7268632 | LTBP2 | c.4796T>C (p.Leu1599Pro) c.4664T>C (p.Leu1555Pro) c.4415T>C (p.Leu1472Pro) c.4337T>C (p.Leu1446Pro) c.4313T>C (p.Leu1438Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503311A>T | CA390384654 | LTBP2 | c.4796T>A (p.Leu1599Gln) c.4664T>A (p.Leu1555Gln) c.4415T>A (p.Leu1472Gln) c.4337T>A (p.Leu1446Gln) c.4313T>A (p.Leu1438Gln) | |
14 | g.74503312G>A | CA487267141 | LTBP2 | c.4795C>T (p.Leu1599=) c.4663C>T (p.Leu1555=) c.4414C>T (p.Leu1472=) c.4336C>T (p.Leu1446=) c.4312C>T (p.Leu1438=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503312G>C | CA390384656 | LTBP2 | c.4795C>G (p.Leu1599Val) c.4663C>G (p.Leu1555Val) c.4414C>G (p.Leu1472Val) c.4336C>G (p.Leu1446Val) c.4312C>G (p.Leu1438Val) | |
14 | g.74503312G= | CA2147075234 | LTBP2 | c.4795C= (p.Leu1599=) c.4663C= (p.Leu1555=) c.4414C= (p.Leu1472=) c.4336C= (p.Leu1446=) c.4312C= (p.Leu1438=) | |
14 | g.74503312G>T | CA390384658 | LTBP2 | c.4795C>A (p.Leu1599Met) c.4663C>A (p.Leu1555Met) c.4414C>A (p.Leu1472Met) c.4336C>A (p.Leu1446Met) c.4312C>A (p.Leu1438Met) | |
14 | g.74503313G>A | CA487267142 | LTBP2 | c.4794C>T (p.Pro1598=) c.4662C>T (p.Pro1554=) c.4413C>T (p.Pro1471=) c.4335C>T (p.Pro1445=) c.4311C>T (p.Pro1437=) | |
14 | g.74503313G>C | CA487267144 | LTBP2 | c.4794C>G (p.Pro1598=) c.4662C>G (p.Pro1554=) c.4413C>G (p.Pro1471=) c.4335C>G (p.Pro1445=) c.4311C>G (p.Pro1437=) | |
14 | g.74503313G>T | CA487267143 | LTBP2 | c.4794C>A (p.Pro1598=) c.4662C>A (p.Pro1554=) c.4413C>A (p.Pro1471=) c.4335C>A (p.Pro1445=) c.4311C>A (p.Pro1437=) | |
14 | g.74503314G>A | CA390384659 | LTBP2 | c.4793C>T (p.Pro1598Leu) c.4661C>T (p.Pro1554Leu) c.4412C>T (p.Pro1471Leu) c.4334C>T (p.Pro1445Leu) c.4310C>T (p.Pro1437Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74503314G>C | CA390384660 | LTBP2 | c.4793C>G (p.Pro1598Arg) c.4661C>G (p.Pro1554Arg) c.4412C>G (p.Pro1471Arg) c.4334C>G (p.Pro1445Arg) c.4310C>G (p.Pro1437Arg) | |
14 | g.74503314G= | CA2147075235 | LTBP2 | c.4793C= (p.Pro1598=) c.4661C= (p.Pro1554=) c.4412C= (p.Pro1471=) c.4334C= (p.Pro1445=) c.4310C= (p.Pro1437=) | |
14 | g.74503314G>T | CA390384661 | LTBP2 | c.4793C>A (p.Pro1598His) c.4661C>A (p.Pro1554His) c.4412C>A (p.Pro1471His) c.4334C>A (p.Pro1445His) c.4310C>A (p.Pro1437His) | |
14 | g.74503315G>A | CA390384664 | LTBP2 | c.4792C>T (p.Pro1598Ser) c.4660C>T (p.Pro1554Ser) c.4411C>T (p.Pro1471Ser) c.4333C>T (p.Pro1445Ser) c.4309C>T (p.Pro1437Ser) | |
14 | g.74503315G>C | CA390384666 | LTBP2 | c.4792C>G (p.Pro1598Ala) c.4660C>G (p.Pro1554Ala) c.4411C>G (p.Pro1471Ala) c.4333C>G (p.Pro1445Ala) c.4309C>G (p.Pro1437Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503315G= | CA2147075237 | LTBP2 | c.4792C= (p.Pro1598=) c.4660C= (p.Pro1554=) c.4411C= (p.Pro1471=) c.4333C= (p.Pro1445=) c.4309C= (p.Pro1437=) | |
14 | g.74503315G>T | CA390384667 | LTBP2 | c.4792C>A (p.Pro1598Thr) c.4660C>A (p.Pro1554Thr) c.4411C>A (p.Pro1471Thr) c.4333C>A (p.Pro1445Thr) c.4309C>A (p.Pro1437Thr) | |
14 | g.74503316T>A | CA390384669 | LTBP2 | c.4791A>T (p.Glu1597Asp) c.4659A>T (p.Glu1553Asp) c.4410A>T (p.Glu1470Asp) c.4332A>T (p.Glu1444Asp) c.4308A>T (p.Glu1436Asp) | |
14 | g.74503316T>C | CA487267145 | LTBP2 | c.4791A>G (p.Glu1597=) c.4659A>G (p.Glu1553=) c.4410A>G (p.Glu1470=) c.4332A>G (p.Glu1444=) c.4308A>G (p.Glu1436=) | dbSNP |
14 | g.74503316T>G | CA390384670 | LTBP2 | c.4791A>C (p.Glu1597Asp) c.4659A>C (p.Glu1553Asp) c.4410A>C (p.Glu1470Asp) c.4332A>C (p.Glu1444Asp) c.4308A>C (p.Glu1436Asp) | |
14 | g.74503317T>A | CA390384672 | LTBP2 | c.4790A>T (p.Glu1597Val) c.4658A>T (p.Glu1553Val) c.4409A>T (p.Glu1470Val) c.4331A>T (p.Glu1444Val) c.4307A>T (p.Glu1436Val) | |
14 | g.74503317T>C | CA390384673 | LTBP2 | c.4790A>G (p.Glu1597Gly) c.4658A>G (p.Glu1553Gly) c.4409A>G (p.Glu1470Gly) c.4331A>G (p.Glu1444Gly) c.4307A>G (p.Glu1436Gly) | |
14 | g.74503317T>G | CA390384675 | LTBP2 | c.4790A>C (p.Glu1597Ala) c.4658A>C (p.Glu1553Ala) c.4409A>C (p.Glu1470Ala) c.4331A>C (p.Glu1444Ala) c.4307A>C (p.Glu1436Ala) | |
14 | g.74503318C>A | CA390384678 | LTBP2 | c.4789G>T (p.Glu1597Ter) c.4657G>T (p.Glu1553Ter) c.4408G>T (p.Glu1470Ter) c.4330G>T (p.Glu1444Ter) c.4306G>T (p.Glu1436Ter) | dbSNP |
14 | g.74503318C= | CA2147075239 | LTBP2 | c.4789G= (p.Glu1597=) c.4657G= (p.Glu1553=) c.4408G= (p.Glu1470=) c.4330G= (p.Glu1444=) c.4306G= (p.Glu1436=) | |
14 | g.74503318C>G | CA390384680 | LTBP2 | c.4789G>C (p.Glu1597Gln) c.4657G>C (p.Glu1553Gln) c.4408G>C (p.Glu1470Gln) c.4330G>C (p.Glu1444Gln) c.4306G>C (p.Glu1436Gln) | |
14 | g.74503318C>T | CA7268633 | LTBP2 | c.4789G>A (p.Glu1597Lys) c.4657G>A (p.Glu1553Lys) c.4408G>A (p.Glu1470Lys) c.4330G>A (p.Glu1444Lys) c.4306G>A (p.Glu1436Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.74503319G>A | CA7268634 | LTBP2 | c.4788C>T (p.Ser1596=) c.4656C>T (p.Ser1552=) c.4407C>T (p.Ser1469=) c.4329C>T (p.Ser1443=) c.4305C>T (p.Ser1435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503319G>C | CA390384683 | LTBP2 | c.4788C>G (p.Ser1596Arg) c.4656C>G (p.Ser1552Arg) c.4407C>G (p.Ser1469Arg) c.4329C>G (p.Ser1443Arg) c.4305C>G (p.Ser1435Arg) | |
14 | g.74503319G= | CA2147075242 | LTBP2 | c.4788C= (p.Ser1596=) c.4656C= (p.Ser1552=) c.4407C= (p.Ser1469=) c.4329C= (p.Ser1443=) c.4305C= (p.Ser1435=) | |
14 | g.74503319G>T | CA390384685 | LTBP2 | c.4788C>A (p.Ser1596Arg) c.4656C>A (p.Ser1552Arg) c.4407C>A (p.Ser1469Arg) c.4329C>A (p.Ser1443Arg) c.4305C>A (p.Ser1435Arg) | |
14 | g.74503320C>A | CA390384687 | LTBP2 | c.4787G>T (p.Ser1596Ile) c.4655G>T (p.Ser1552Ile) c.4406G>T (p.Ser1469Ile) c.4328G>T (p.Ser1443Ile) c.4304G>T (p.Ser1435Ile) | |
14 | g.74503320C>G | CA390384688 | LTBP2 | c.4787G>C (p.Ser1596Thr) c.4655G>C (p.Ser1552Thr) c.4406G>C (p.Ser1469Thr) c.4328G>C (p.Ser1443Thr) c.4304G>C (p.Ser1435Thr) | |
14 | g.74503320C>T | CA390384689 | LTBP2 | c.4787G>A (p.Ser1596Asn) c.4655G>A (p.Ser1552Asn) c.4406G>A (p.Ser1469Asn) c.4328G>A (p.Ser1443Asn) c.4304G>A (p.Ser1435Asn) | |
14 | g.74503321T>A | CA390384696 | LTBP2 | c.4786A>T (p.Ser1596Cys) c.4654A>T (p.Ser1552Cys) c.4405A>T (p.Ser1469Cys) c.4327A>T (p.Ser1443Cys) c.4303A>T (p.Ser1435Cys) | |
14 | g.74503321T>C | CA390384692 | LTBP2 | c.4786A>G (p.Ser1596Gly) c.4654A>G (p.Ser1552Gly) c.4405A>G (p.Ser1469Gly) c.4327A>G (p.Ser1443Gly) c.4303A>G (p.Ser1435Gly) | gnomAD v4 |
14 | g.74503321T>G | CA390384695 | LTBP2 | c.4786A>C (p.Ser1596Arg) c.4654A>C (p.Ser1552Arg) c.4405A>C (p.Ser1469Arg) c.4327A>C (p.Ser1443Arg) c.4303A>C (p.Ser1435Arg) | |
14 | g.74503328_74503329insATGCACACA | CA2625668525 | LTBP2 | c.4786_4787insTTGTGTGCA (p.Cys1595_Ser1596insIleValCys) c.4654_4655insTTGTGTGCA (p.Cys1551_Ser1552insIleValCys) c.4405_4406insTTGTGTGCA (p.Cys1468_Ser1469insIleValCys) c.4327_4328insTTGTGTGCA (p.Cys1442_Ser1443insIleValCys) c.4303_4304insTTGTGTGCA (p.Cys1434_Ser1435insIleValCys) | gnomAD v4 |
14 | g.74503322G>A | CA487267146 | LTBP2 | c.4785C>T (p.Cys1595=) c.4653C>T (p.Cys1551=) c.4404C>T (p.Cys1468=) c.4326C>T (p.Cys1442=) c.4302C>T (p.Cys1434=) | |
14 | g.74503322G>C | CA390384698 | LTBP2 | c.4785C>G (p.Cys1595Trp) c.4653C>G (p.Cys1551Trp) c.4404C>G (p.Cys1468Trp) c.4326C>G (p.Cys1442Trp) c.4302C>G (p.Cys1434Trp) | |
14 | g.74503322G>T | CA390384700 | LTBP2 | c.4785C>A (p.Cys1595Ter) c.4653C>A (p.Cys1551Ter) c.4404C>A (p.Cys1468Ter) c.4326C>A (p.Cys1442Ter) c.4302C>A (p.Cys1434Ter) | |
14 | g.74503323C>A | CA390384701 | LTBP2 | c.4784G>T (p.Cys1595Phe) c.4652G>T (p.Cys1551Phe) c.4403G>T (p.Cys1468Phe) c.4325G>T (p.Cys1442Phe) c.4301G>T (p.Cys1434Phe) | |
14 | g.74503323C>G | CA390384703 | LTBP2 | c.4784G>C (p.Cys1595Ser) c.4652G>C (p.Cys1551Ser) c.4403G>C (p.Cys1468Ser) c.4325G>C (p.Cys1442Ser) c.4301G>C (p.Cys1434Ser) | |
14 | g.74503323C>T | CA390384704 | LTBP2 | c.4784G>A (p.Cys1595Tyr) c.4652G>A (p.Cys1551Tyr) c.4403G>A (p.Cys1468Tyr) c.4325G>A (p.Cys1442Tyr) c.4301G>A (p.Cys1434Tyr) | |
14 | g.74503324A>C | CA390384706 | LTBP2 | c.4783T>G (p.Cys1595Gly) c.4651T>G (p.Cys1551Gly) c.4402T>G (p.Cys1468Gly) c.4324T>G (p.Cys1442Gly) c.4300T>G (p.Cys1434Gly) | |
14 | g.74503324A>G | CA390384709 | LTBP2 | c.4783T>C (p.Cys1595Arg) c.4651T>C (p.Cys1551Arg) c.4402T>C (p.Cys1468Arg) c.4324T>C (p.Cys1442Arg) c.4300T>C (p.Cys1434Arg) | gnomAD v4 |
14 | g.74503324A>T | CA390384707 | LTBP2 | c.4783T>A (p.Cys1595Ser) c.4651T>A (p.Cys1551Ser) c.4402T>A (p.Cys1468Ser) c.4324T>A (p.Cys1442Ser) c.4300T>A (p.Cys1434Ser) | |
14 | g.74503325C>A | CA487267147 | LTBP2 | c.4782G>T (p.Val1594=) c.4650G>T (p.Val1550=) c.4401G>T (p.Val1467=) c.4323G>T (p.Val1441=) c.4299G>T (p.Val1433=) | |
14 | g.74503325C= | CA2147075245 | LTBP2 | c.4782G= (p.Val1594=) c.4650G= (p.Val1550=) c.4401G= (p.Val1467=) c.4323G= (p.Val1441=) c.4299G= (p.Val1433=) | |
14 | g.74503325C>G | CA487267148 | LTBP2 | c.4782G>C (p.Val1594=) c.4650G>C (p.Val1550=) c.4401G>C (p.Val1467=) c.4323G>C (p.Val1441=) c.4299G>C (p.Val1433=) | |
14 | g.74503325C>T | CA7268635 | LTBP2 | c.4782G>A (p.Val1594=) c.4650G>A (p.Val1550=) c.4401G>A (p.Val1467=) c.4323G>A (p.Val1441=) c.4299G>A (p.Val1433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503326A>C | CA390384712 | LTBP2 | c.4781T>G (p.Val1594Gly) c.4649T>G (p.Val1550Gly) c.4400T>G (p.Val1467Gly) c.4322T>G (p.Val1441Gly) c.4298T>G (p.Val1433Gly) | |
14 | g.74503326A>G | CA390384713 | LTBP2 | c.4781T>C (p.Val1594Ala) c.4649T>C (p.Val1550Ala) c.4400T>C (p.Val1467Ala) c.4322T>C (p.Val1441Ala) c.4298T>C (p.Val1433Ala) | |
14 | g.74503326A>T | CA390384715 | LTBP2 | c.4781T>A (p.Val1594Glu) c.4649T>A (p.Val1550Glu) c.4400T>A (p.Val1467Glu) c.4322T>A (p.Val1441Glu) c.4298T>A (p.Val1433Glu) | |
14 | g.74503327C>A | CA390384717 | LTBP2 | c.4780G>T (p.Val1594Leu) c.4648G>T (p.Val1550Leu) c.4399G>T (p.Val1467Leu) c.4321G>T (p.Val1441Leu) c.4297G>T (p.Val1433Leu) | |
14 | g.74503327C= | CA2147075249 | LTBP2 | c.4780G= (p.Val1594=) c.4648G= (p.Val1550=) c.4399G= (p.Val1467=) c.4321G= (p.Val1441=) c.4297G= (p.Val1433=) | |
14 | g.74503327C>G | CA390384719 | LTBP2 | c.4780G>C (p.Val1594Leu) c.4648G>C (p.Val1550Leu) c.4399G>C (p.Val1467Leu) c.4321G>C (p.Val1441Leu) c.4297G>C (p.Val1433Leu) | |
14 | g.74503327C>T | CA390384720 | LTBP2 | c.4780G>A (p.Val1594Met) c.4648G>A (p.Val1550Met) c.4399G>A (p.Val1467Met) c.4321G>A (p.Val1441Met) c.4297G>A (p.Val1433Met) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503328A= | CA2147075253 | LTBP2 | c.4779T= (p.Asp1593=) c.4647T= (p.Asp1549=) c.4398T= (p.Asp1466=) c.4320T= (p.Asp1440=) c.4296T= (p.Asp1432=) | |
14 | g.74503328A>C | CA390384723 | LTBP2 | c.4779T>G (p.Asp1593Glu) c.4647T>G (p.Asp1549Glu) c.4398T>G (p.Asp1466Glu) c.4320T>G (p.Asp1440Glu) c.4296T>G (p.Asp1432Glu) | |
14 | g.74503328A>G | CA7268636 | LTBP2 | c.4779T>C (p.Asp1593=) c.4647T>C (p.Asp1549=) c.4398T>C (p.Asp1466=) c.4320T>C (p.Asp1440=) c.4296T>C (p.Asp1432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503328A>T | CA263578867 | LTBP2 | c.4779T>A (p.Asp1593Glu) c.4647T>A (p.Asp1549Glu) c.4398T>A (p.Asp1466Glu) c.4320T>A (p.Asp1440Glu) c.4296T>A (p.Asp1432Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503329T>A | CA390384725 | LTBP2 | c.4778A>T (p.Asp1593Val) c.4646A>T (p.Asp1549Val) c.4397A>T (p.Asp1466Val) c.4319A>T (p.Asp1440Val) c.4295A>T (p.Asp1432Val) | |
14 | g.74503329T>C | CA7268637 | LTBP2 | c.4778A>G (p.Asp1593Gly) c.4646A>G (p.Asp1549Gly) c.4397A>G (p.Asp1466Gly) c.4319A>G (p.Asp1440Gly) c.4295A>G (p.Asp1432Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503329T>G | CA390384727 | LTBP2 | c.4778A>C (p.Asp1593Ala) c.4646A>C (p.Asp1549Ala) c.4397A>C (p.Asp1466Ala) c.4319A>C (p.Asp1440Ala) c.4295A>C (p.Asp1432Ala) | |
14 | g.74503329T= | CA2147075256 | LTBP2 | c.4778A= (p.Asp1593=) c.4646A= (p.Asp1549=) c.4397A= (p.Asp1466=) c.4319A= (p.Asp1440=) c.4295A= (p.Asp1432=) | |
14 | g.74503330C>A | CA390384731 | LTBP2 | c.4777G>T (p.Asp1593Tyr) c.4645G>T (p.Asp1549Tyr) c.4396G>T (p.Asp1466Tyr) c.4318G>T (p.Asp1440Tyr) c.4294G>T (p.Asp1432Tyr) | |
14 | g.74503330C>G | CA390384733 | LTBP2 | c.4777G>C (p.Asp1593His) c.4645G>C (p.Asp1549His) c.4396G>C (p.Asp1466His) c.4318G>C (p.Asp1440His) c.4294G>C (p.Asp1432His) | |
14 | g.74503330C>T | CA390384729 | LTBP2 | c.4777G>A (p.Asp1593Asn) c.4645G>A (p.Asp1549Asn) c.4396G>A (p.Asp1466Asn) c.4318G>A (p.Asp1440Asn) c.4294G>A (p.Asp1432Asn) | |
14 | g.74503331A= | CA2147075258 | LTBP2 | c.4776T= (p.Asn1592=) c.4644T= (p.Asn1548=) c.4395T= (p.Asn1465=) c.4317T= (p.Asn1439=) c.4293T= (p.Asn1431=) | |
14 | g.74503331A>C | CA390384735 | LTBP2 | c.4776T>G (p.Asn1592Lys) c.4644T>G (p.Asn1548Lys) c.4395T>G (p.Asn1465Lys) c.4317T>G (p.Asn1439Lys) c.4293T>G (p.Asn1431Lys) | |
14 | g.74503331A>G | CA7268638 | LTBP2 | c.4776T>C (p.Asn1592=) c.4644T>C (p.Asn1548=) c.4395T>C (p.Asn1465=) c.4317T>C (p.Asn1439=) c.4293T>C (p.Asn1431=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503331A>T | CA390384736 | LTBP2 | c.4776T>A (p.Asn1592Lys) c.4644T>A (p.Asn1548Lys) c.4395T>A (p.Asn1465Lys) c.4317T>A (p.Asn1439Lys) c.4293T>A (p.Asn1431Lys) | |
14 | g.74503332T>A | CA390384737 | LTBP2 | c.4775A>T (p.Asn1592Ile) c.4643A>T (p.Asn1548Ile) c.4394A>T (p.Asn1465Ile) c.4316A>T (p.Asn1439Ile) c.4292A>T (p.Asn1431Ile) | |
14 | g.74503332T>C | CA390384739 | LTBP2 | c.4775A>G (p.Asn1592Ser) c.4643A>G (p.Asn1548Ser) c.4394A>G (p.Asn1465Ser) c.4316A>G (p.Asn1439Ser) c.4292A>G (p.Asn1431Ser) | gnomAD v4 |
14 | g.74503332T>G | CA390384738 | LTBP2 | c.4775A>C (p.Asn1592Thr) c.4643A>C (p.Asn1548Thr) c.4394A>C (p.Asn1465Thr) c.4316A>C (p.Asn1439Thr) c.4292A>C (p.Asn1431Thr) | |
14 | g.74503333T>A | CA390384740 | LTBP2 | c.4774A>T (p.Asn1592Tyr) c.4642A>T (p.Asn1548Tyr) c.4393A>T (p.Asn1465Tyr) c.4315A>T (p.Asn1439Tyr) c.4291A>T (p.Asn1431Tyr) | |
14 | g.74503333T>C | CA390384741 | LTBP2 | c.4774A>G (p.Asn1592Asp) c.4642A>G (p.Asn1548Asp) c.4393A>G (p.Asn1465Asp) c.4315A>G (p.Asn1439Asp) c.4291A>G (p.Asn1431Asp) | |
14 | g.74503333T>G | CA390384742 | LTBP2 | c.4774A>C (p.Asn1592His) c.4642A>C (p.Asn1548His) c.4393A>C (p.Asn1465His) c.4315A>C (p.Asn1439His) c.4291A>C (p.Asn1431His) | |
14 | g.74503334G>A | CA7268639 | LTBP2 | c.4773C>T (p.Thr1591=) c.4641C>T (p.Thr1547=) c.4392C>T (p.Thr1464=) c.4314C>T (p.Thr1438=) c.4290C>T (p.Thr1430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503334G>C | CA487267150 | LTBP2 | c.4773C>G (p.Thr1591=) c.4641C>G (p.Thr1547=) c.4392C>G (p.Thr1464=) c.4314C>G (p.Thr1438=) c.4290C>G (p.Thr1430=) | |
14 | g.74503334G= | CA2147075260 | LTBP2 | c.4773C= (p.Thr1591=) c.4641C= (p.Thr1547=) c.4392C= (p.Thr1464=) c.4314C= (p.Thr1438=) c.4290C= (p.Thr1430=) | |
14 | g.74503334G>T | CA487267149 | LTBP2 | c.4773C>A (p.Thr1591=) c.4641C>A (p.Thr1547=) c.4392C>A (p.Thr1464=) c.4314C>A (p.Thr1438=) c.4290C>A (p.Thr1430=) | |
14 | g.74503335G>A | CA7268640 | LTBP2 | c.4772C>T (p.Thr1591Ile) c.4640C>T (p.Thr1547Ile) c.4391C>T (p.Thr1464Ile) c.4313C>T (p.Thr1438Ile) c.4289C>T (p.Thr1430Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503335G>C | CA390384743 | LTBP2 | c.4772C>G (p.Thr1591Ser) c.4640C>G (p.Thr1547Ser) c.4391C>G (p.Thr1464Ser) c.4313C>G (p.Thr1438Ser) c.4289C>G (p.Thr1430Ser) | |
14 | g.74503335G= | CA2147075262 | LTBP2 | c.4772C= (p.Thr1591=) c.4640C= (p.Thr1547=) c.4391C= (p.Thr1464=) c.4313C= (p.Thr1438=) c.4289C= (p.Thr1430=) | |
14 | g.74503335G>T | CA390384744 | LTBP2 | c.4772C>A (p.Thr1591Asn) c.4640C>A (p.Thr1547Asn) c.4391C>A (p.Thr1464Asn) c.4313C>A (p.Thr1438Asn) c.4289C>A (p.Thr1430Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.74503336T>A | CA390384747 | LTBP2 | c.4771A>T (p.Thr1591Ser) c.4639A>T (p.Thr1547Ser) c.4390A>T (p.Thr1464Ser) c.4312A>T (p.Thr1438Ser) c.4288A>T (p.Thr1430Ser) | |
14 | g.74503336T>C | CA390384748 | LTBP2 | c.4771A>G (p.Thr1591Ala) c.4639A>G (p.Thr1547Ala) c.4390A>G (p.Thr1464Ala) c.4312A>G (p.Thr1438Ala) c.4288A>G (p.Thr1430Ala) | |
14 | g.74503336T>G | CA390384749 | LTBP2 | c.4771A>C (p.Thr1591Pro) c.4639A>C (p.Thr1547Pro) c.4390A>C (p.Thr1464Pro) c.4312A>C (p.Thr1438Pro) c.4288A>C (p.Thr1430Pro) | |
14 | g.74503337G>A | CA487267151 | LTBP2 | c.4770C>T (p.Val1590=) c.4638C>T (p.Val1546=) c.4389C>T (p.Val1463=) c.4311C>T (p.Val1437=) c.4287C>T (p.Val1429=) | |
14 | g.74503337G>C | CA487267152 | LTBP2 | c.4770C>G (p.Val1590=) c.4638C>G (p.Val1546=) c.4389C>G (p.Val1463=) c.4311C>G (p.Val1437=) c.4287C>G (p.Val1429=) | |
14 | g.74503337G>T | CA487267153 | LTBP2 | c.4770C>A (p.Val1590=) c.4638C>A (p.Val1546=) c.4389C>A (p.Val1463=) c.4311C>A (p.Val1437=) c.4287C>A (p.Val1429=) | |
14 | g.74503338A= | CA2147075264 | LTBP2 | c.4769T= (p.Val1590=) c.4637T= (p.Val1546=) c.4388T= (p.Val1463=) c.4310T= (p.Val1437=) c.4286T= (p.Val1429=) | |
14 | g.74503338A>C | CA390384752 | LTBP2 | c.4769T>G (p.Val1590Gly) c.4637T>G (p.Val1546Gly) c.4388T>G (p.Val1463Gly) c.4310T>G (p.Val1437Gly) c.4286T>G (p.Val1429Gly) | |
14 | g.74503338A>G | CA7268641 | LTBP2 | c.4769T>C (p.Val1590Ala) c.4637T>C (p.Val1546Ala) c.4388T>C (p.Val1463Ala) c.4310T>C (p.Val1437Ala) c.4286T>C (p.Val1429Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503338A>T | CA390384750 | LTBP2 | c.4769T>A (p.Val1590Asp) c.4637T>A (p.Val1546Asp) c.4388T>A (p.Val1463Asp) c.4310T>A (p.Val1437Asp) c.4286T>A (p.Val1429Asp) | |
14 | g.74503339C>A | CA390384754 | LTBP2 | c.4768G>T (p.Val1590Phe) c.4636G>T (p.Val1546Phe) c.4387G>T (p.Val1463Phe) c.4309G>T (p.Val1437Phe) c.4285G>T (p.Val1429Phe) | |
14 | g.74503339C= | CA2147075266 | LTBP2 | c.4768G= (p.Val1590=) c.4636G= (p.Val1546=) c.4387G= (p.Val1463=) c.4309G= (p.Val1437=) c.4285G= (p.Val1429=) | |
14 | g.74503339C>G | CA390384755 | LTBP2 | c.4768G>C (p.Val1590Leu) c.4636G>C (p.Val1546Leu) c.4387G>C (p.Val1463Leu) c.4309G>C (p.Val1437Leu) c.4285G>C (p.Val1429Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503339C>T | CA390384757 | LTBP2 | c.4768G>A (p.Val1590Ile) c.4636G>A (p.Val1546Ile) c.4387G>A (p.Val1463Ile) c.4309G>A (p.Val1437Ile) c.4285G>A (p.Val1429Ile) | |
14 | g.74503340T>A | CA390384759 | LTBP2 | c.4767A>T (p.Lys1589Asn) c.4635A>T (p.Lys1545Asn) c.4386A>T (p.Lys1462Asn) c.4308A>T (p.Lys1436Asn) c.4284A>T (p.Lys1428Asn) | |
14 | g.74503340T>C | CA487267154 | LTBP2 | c.4767A>G (p.Lys1589=) c.4635A>G (p.Lys1545=) c.4386A>G (p.Lys1462=) c.4308A>G (p.Lys1436=) c.4284A>G (p.Lys1428=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503340T>G | CA390384760 | LTBP2 | c.4767A>C (p.Lys1589Asn) c.4635A>C (p.Lys1545Asn) c.4386A>C (p.Lys1462Asn) c.4308A>C (p.Lys1436Asn) c.4284A>C (p.Lys1428Asn) | |
14 | g.74503340T= | CA2147075269 | LTBP2 | c.4767A= (p.Lys1589=) c.4635A= (p.Lys1545=) c.4386A= (p.Lys1462=) c.4308A= (p.Lys1436=) c.4284A= (p.Lys1428=) | |
14 | g.74503345dup | CA708515169 | LTBP2 | c.4767dup (p.Val1590SerfsTer4) c.4635dup (p.Val1546SerfsTer4) c.4386dup (p.Val1463SerfsTer4) c.4308dup (p.Val1437SerfsTer4) c.4284dup (p.Val1429SerfsTer4) | dbSNP gnomAD v4 |
14 | g.74503345del | CA645569595 | LTBP2 | c.4767del (p.Val1590SerfsTer?) c.4635del (p.Val1546SerfsTer?) c.4386del (p.Val1463SerfsTer?) c.4308del (p.Val1437SerfsTer?) c.4284del (p.Val1429SerfsTer?) | gnomAD v4 COSMIC |
14 | g.74503341T>A | CA390384762 | LTBP2 | c.4766A>T (p.Lys1589Ile) c.4634A>T (p.Lys1545Ile) c.4385A>T (p.Lys1462Ile) c.4307A>T (p.Lys1436Ile) c.4283A>T (p.Lys1428Ile) | |
14 | g.74503341T>C | CA390384763 | LTBP2 | c.4766A>G (p.Lys1589Arg) c.4634A>G (p.Lys1545Arg) c.4385A>G (p.Lys1462Arg) c.4307A>G (p.Lys1436Arg) c.4283A>G (p.Lys1428Arg) | gnomAD v4 |
14 | g.74503341T>G | CA390384765 | LTBP2 | c.4766A>C (p.Lys1589Thr) c.4634A>C (p.Lys1545Thr) c.4385A>C (p.Lys1462Thr) c.4307A>C (p.Lys1436Thr) c.4283A>C (p.Lys1428Thr) | |
14 | g.74503342T>A | CA390384767 | LTBP2 | c.4765A>T (p.Lys1589Ter) c.4633A>T (p.Lys1545Ter) c.4384A>T (p.Lys1462Ter) c.4306A>T (p.Lys1436Ter) c.4282A>T (p.Lys1428Ter) | |
14 | g.74503342T>C | CA390384768 | LTBP2 | c.4765A>G (p.Lys1589Glu) c.4633A>G (p.Lys1545Glu) c.4384A>G (p.Lys1462Glu) c.4306A>G (p.Lys1436Glu) c.4282A>G (p.Lys1428Glu) | |
14 | g.74503342T>G | CA390384770 | LTBP2 | c.4765A>C (p.Lys1589Gln) c.4633A>C (p.Lys1545Gln) c.4384A>C (p.Lys1462Gln) c.4306A>C (p.Lys1436Gln) c.4282A>C (p.Lys1428Gln) | |
14 | g.74503343T>A | CA390384773 | LTBP2 | c.4764A>T (p.Lys1588Asn) c.4632A>T (p.Lys1544Asn) c.4383A>T (p.Lys1461Asn) c.4305A>T (p.Lys1435Asn) c.4281A>T (p.Lys1427Asn) | |
14 | g.74503343T>C | CA487267155 | LTBP2 | c.4764A>G (p.Lys1588=) c.4632A>G (p.Lys1544=) c.4383A>G (p.Lys1461=) c.4305A>G (p.Lys1435=) c.4281A>G (p.Lys1427=) | |
14 | g.74503343T>G | CA390384772 | LTBP2 | c.4764A>C (p.Lys1588Asn) c.4632A>C (p.Lys1544Asn) c.4383A>C (p.Lys1461Asn) c.4305A>C (p.Lys1435Asn) c.4281A>C (p.Lys1427Asn) | |
14 | g.74503344T>A | CA390384774 | LTBP2 | c.4763A>T (p.Lys1588Ile) c.4631A>T (p.Lys1544Ile) c.4382A>T (p.Lys1461Ile) c.4304A>T (p.Lys1435Ile) c.4280A>T (p.Lys1427Ile) | |
14 | g.74503344T>C | CA7268642 | LTBP2 | c.4763A>G (p.Lys1588Arg) c.4631A>G (p.Lys1544Arg) c.4382A>G (p.Lys1461Arg) c.4304A>G (p.Lys1435Arg) c.4280A>G (p.Lys1427Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503344T>G | CA390384776 | LTBP2 | c.4763A>C (p.Lys1588Thr) c.4631A>C (p.Lys1544Thr) c.4382A>C (p.Lys1461Thr) c.4304A>C (p.Lys1435Thr) c.4280A>C (p.Lys1427Thr) | |
14 | g.74503344T= | CA2147075271 | LTBP2 | c.4763A= (p.Lys1588=) c.4631A= (p.Lys1544=) c.4382A= (p.Lys1461=) c.4304A= (p.Lys1435=) c.4280A= (p.Lys1427=) | |
14 | g.74503345T>A | CA390384779 | LTBP2 | c.4762A>T (p.Lys1588Ter) c.4630A>T (p.Lys1544Ter) c.4381A>T (p.Lys1461Ter) c.4303A>T (p.Lys1435Ter) c.4279A>T (p.Lys1427Ter) | |
14 | g.74503345T>C | CA390384780 | LTBP2 | c.4762A>G (p.Lys1588Glu) c.4630A>G (p.Lys1544Glu) c.4381A>G (p.Lys1461Glu) c.4303A>G (p.Lys1435Glu) c.4279A>G (p.Lys1427Glu) | |
14 | g.74503345T>G | CA390384781 | LTBP2 | c.4762A>C (p.Lys1588Gln) c.4630A>C (p.Lys1544Gln) c.4381A>C (p.Lys1461Gln) c.4303A>C (p.Lys1435Gln) c.4279A>C (p.Lys1427Gln) | |
14 | g.74503346C>A | CA390384783 | LTBP2 | c.4761G>T (p.Trp1587Cys) c.4629G>T (p.Trp1543Cys) c.4380G>T (p.Trp1460Cys) c.4302G>T (p.Trp1434Cys) c.4278G>T (p.Trp1426Cys) | |
14 | g.74503346C>G | CA390384785 | LTBP2 | c.4761G>C (p.Trp1587Cys) c.4629G>C (p.Trp1543Cys) c.4380G>C (p.Trp1460Cys) c.4302G>C (p.Trp1434Cys) c.4278G>C (p.Trp1426Cys) | |
14 | g.74503346C>T | CA390384787 | LTBP2 | c.4761G>A (p.Trp1587Ter) c.4629G>A (p.Trp1543Ter) c.4380G>A (p.Trp1460Ter) c.4302G>A (p.Trp1434Ter) c.4278G>A (p.Trp1426Ter) | COSMIC |
14 | g.74503347C>A | CA390384788 | LTBP2 | c.4760G>T (p.Trp1587Leu) c.4628G>T (p.Trp1543Leu) c.4379G>T (p.Trp1460Leu) c.4301G>T (p.Trp1434Leu) c.4277G>T (p.Trp1426Leu) | gnomAD v4 |
14 | g.74503347C>G | CA390384789 | LTBP2 | c.4760G>C (p.Trp1587Ser) c.4628G>C (p.Trp1543Ser) c.4379G>C (p.Trp1460Ser) c.4301G>C (p.Trp1434Ser) c.4277G>C (p.Trp1426Ser) | |
14 | g.74503347C>T | CA390384791 | LTBP2 | c.4760G>A (p.Trp1587Ter) c.4628G>A (p.Trp1543Ter) c.4379G>A (p.Trp1460Ter) c.4301G>A (p.Trp1434Ter) c.4277G>A (p.Trp1426Ter) | |
14 | g.74503348A>C | CA390384797 | LTBP2 | c.4759T>G (p.Trp1587Gly) c.4627T>G (p.Trp1543Gly) c.4378T>G (p.Trp1460Gly) c.4300T>G (p.Trp1434Gly) c.4276T>G (p.Trp1426Gly) | |
14 | g.74503348A>G | CA390384793 | LTBP2 | c.4759T>C (p.Trp1587Arg) c.4627T>C (p.Trp1543Arg) c.4378T>C (p.Trp1460Arg) c.4300T>C (p.Trp1434Arg) c.4276T>C (p.Trp1426Arg) | |
14 | g.74503348A>T | CA390384794 | LTBP2 | c.4759T>A (p.Trp1587Arg) c.4627T>A (p.Trp1543Arg) c.4378T>A (p.Trp1460Arg) c.4300T>A (p.Trp1434Arg) c.4276T>A (p.Trp1426Arg) | |
14 | g.74503349G>A | CA487267156 | LTBP2 | c.4758C>T (p.Cys1586=) c.4626C>T (p.Cys1542=) c.4377C>T (p.Cys1459=) c.4299C>T (p.Cys1433=) c.4275C>T (p.Cys1425=) | |
14 | g.74503349G>C | CA390384799 | LTBP2 | c.4758C>G (p.Cys1586Trp) c.4626C>G (p.Cys1542Trp) c.4377C>G (p.Cys1459Trp) c.4299C>G (p.Cys1433Trp) c.4275C>G (p.Cys1425Trp) | |
14 | g.74503349G>T | CA390384800 | LTBP2 | c.4758C>A (p.Cys1586Ter) c.4626C>A (p.Cys1542Ter) c.4377C>A (p.Cys1459Ter) c.4299C>A (p.Cys1433Ter) c.4275C>A (p.Cys1425Ter) | |
14 | g.74503350C>A | CA390384803 | LTBP2 | c.4757G>T (p.Cys1586Phe) c.4625G>T (p.Cys1542Phe) c.4376G>T (p.Cys1459Phe) c.4298G>T (p.Cys1433Phe) c.4274G>T (p.Cys1425Phe) | |
14 | g.74503350C>G | CA390384804 | LTBP2 | c.4757G>C (p.Cys1586Ser) c.4625G>C (p.Cys1542Ser) c.4376G>C (p.Cys1459Ser) c.4298G>C (p.Cys1433Ser) c.4274G>C (p.Cys1425Ser) | |
14 | g.74503350C>T | CA390384806 | LTBP2 | c.4757G>A (p.Cys1586Tyr) c.4625G>A (p.Cys1542Tyr) c.4376G>A (p.Cys1459Tyr) c.4298G>A (p.Cys1433Tyr) c.4274G>A (p.Cys1425Tyr) | |
14 | g.74503351A>C | CA390384807 | LTBP2 | c.4756T>G (p.Cys1586Gly) c.4624T>G (p.Cys1542Gly) c.4375T>G (p.Cys1459Gly) c.4297T>G (p.Cys1433Gly) c.4273T>G (p.Cys1425Gly) | |
14 | g.74503351A>G | CA390384809 | LTBP2 | c.4756T>C (p.Cys1586Arg) c.4624T>C (p.Cys1542Arg) c.4375T>C (p.Cys1459Arg) c.4297T>C (p.Cys1433Arg) c.4273T>C (p.Cys1425Arg) | |
14 | g.74503351A>T | CA390384811 | LTBP2 | c.4756T>A (p.Cys1586Ser) c.4624T>A (p.Cys1542Ser) c.4375T>A (p.Cys1459Ser) c.4297T>A (p.Cys1433Ser) c.4273T>A (p.Cys1425Ser) | |
14 | g.74503352G>A | CA487267157 | LTBP2 | c.4755C>T (p.Ile1585=) c.4623C>T (p.Ile1541=) c.4374C>T (p.Ile1458=) c.4296C>T (p.Ile1432=) c.4272C>T (p.Ile1424=) | |
14 | g.74503352G>C | CA390384812 | LTBP2 | c.4755C>G (p.Ile1585Met) c.4623C>G (p.Ile1541Met) c.4374C>G (p.Ile1458Met) c.4296C>G (p.Ile1432Met) c.4272C>G (p.Ile1424Met) | |
14 | g.74503352G= | CA2147075273 | LTBP2 | c.4755C= (p.Ile1585=) c.4623C= (p.Ile1541=) c.4374C= (p.Ile1458=) c.4296C= (p.Ile1432=) c.4272C= (p.Ile1424=) | |
14 | g.74503352G>T | CA487267158 | LTBP2 | c.4755C>A (p.Ile1585=) c.4623C>A (p.Ile1541=) c.4374C>A (p.Ile1458=) c.4296C>A (p.Ile1432=) c.4272C>A (p.Ile1424=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503353A= | CA2147075275 | LTBP2 | c.4754T= (p.Ile1585=) c.4622T= (p.Ile1541=) c.4373T= (p.Ile1458=) c.4295T= (p.Ile1432=) c.4271T= (p.Ile1424=) | |
14 | g.74503353A>C | CA390384815 | LTBP2 | c.4754T>G (p.Ile1585Ser) c.4622T>G (p.Ile1541Ser) c.4373T>G (p.Ile1458Ser) c.4295T>G (p.Ile1432Ser) c.4271T>G (p.Ile1424Ser) | |
14 | g.74503353A>G | CA263578900 | LTBP2 | c.4754T>C (p.Ile1585Thr) c.4622T>C (p.Ile1541Thr) c.4373T>C (p.Ile1458Thr) c.4295T>C (p.Ile1432Thr) c.4271T>C (p.Ile1424Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503353A>T | CA390384817 | LTBP2 | c.4754T>A (p.Ile1585Asn) c.4622T>A (p.Ile1541Asn) c.4373T>A (p.Ile1458Asn) c.4295T>A (p.Ile1432Asn) c.4271T>A (p.Ile1424Asn) | |
14 | g.74503354T>A | CA390384819 | LTBP2 | c.4753A>T (p.Ile1585Phe) c.4621A>T (p.Ile1541Phe) c.4372A>T (p.Ile1458Phe) c.4294A>T (p.Ile1432Phe) c.4270A>T (p.Ile1424Phe) | |
14 | g.74503354T>C | CA390384821 | LTBP2 | c.4753A>G (p.Ile1585Val) c.4621A>G (p.Ile1541Val) c.4372A>G (p.Ile1458Val) c.4294A>G (p.Ile1432Val) c.4270A>G (p.Ile1424Val) | dbSNP |
14 | g.74503354T>G | CA390384818 | LTBP2 | c.4753A>C (p.Ile1585Leu) c.4621A>C (p.Ile1541Leu) c.4372A>C (p.Ile1458Leu) c.4294A>C (p.Ile1432Leu) c.4270A>C (p.Ile1424Leu) | |
14 | g.74503355G>A | CA487267159 | LTBP2 | c.4752C>T (p.Asp1584=) c.4620C>T (p.Asp1540=) c.4371C>T (p.Asp1457=) c.4293C>T (p.Asp1431=) c.4269C>T (p.Asp1423=) | ClinVar |
14 | g.74503355G>C | CA390384822 | LTBP2 | c.4752C>G (p.Asp1584Glu) c.4620C>G (p.Asp1540Glu) c.4371C>G (p.Asp1457Glu) c.4293C>G (p.Asp1431Glu) c.4269C>G (p.Asp1423Glu) | |
14 | g.74503355G>T | CA390384824 | LTBP2 | c.4752C>A (p.Asp1584Glu) c.4620C>A (p.Asp1540Glu) c.4371C>A (p.Asp1457Glu) c.4293C>A (p.Asp1431Glu) c.4269C>A (p.Asp1423Glu) | |
14 | g.74503356T>A | CA390384826 | LTBP2 | c.4751A>T (p.Asp1584Val) c.4619A>T (p.Asp1540Val) c.4370A>T (p.Asp1457Val) c.4292A>T (p.Asp1431Val) c.4268A>T (p.Asp1423Val) | |
14 | g.74503356T>C | CA390384827 | LTBP2 | c.4751A>G (p.Asp1584Gly) c.4619A>G (p.Asp1540Gly) c.4370A>G (p.Asp1457Gly) c.4292A>G (p.Asp1431Gly) c.4268A>G (p.Asp1423Gly) | |
14 | g.74503356T>G | CA390384829 | LTBP2 | c.4751A>C (p.Asp1584Ala) c.4619A>C (p.Asp1540Ala) c.4370A>C (p.Asp1457Ala) c.4292A>C (p.Asp1431Ala) c.4268A>C (p.Asp1423Ala) | |
14 | g.74503357C>A | CA390384834 | LTBP2 | c.4750G>T (p.Asp1584Tyr) c.4618G>T (p.Asp1540Tyr) c.4369G>T (p.Asp1457Tyr) c.4291G>T (p.Asp1431Tyr) c.4267G>T (p.Asp1423Tyr) | |
14 | g.74503357C>G | CA390384832 | LTBP2 | c.4750G>C (p.Asp1584His) c.4618G>C (p.Asp1540His) c.4369G>C (p.Asp1457His) c.4291G>C (p.Asp1431His) c.4267G>C (p.Asp1423His) | |
14 | g.74503357C>T | CA390384830 | LTBP2 | c.4750G>A (p.Asp1584Asn) c.4618G>A (p.Asp1540Asn) c.4369G>A (p.Asp1457Asn) c.4291G>A (p.Asp1431Asn) c.4267G>A (p.Asp1423Asn) | |
14 | g.74503358C>A | CA390384836 | LTBP2 | c.4749G>T (p.Met1583Ile) c.4617G>T (p.Met1539Ile) c.4368G>T (p.Met1456Ile) c.4290G>T (p.Met1430Ile) c.4266G>T (p.Met1422Ile) | |
14 | g.74503358C>G | CA390384837 | LTBP2 | c.4749G>C (p.Met1583Ile) c.4617G>C (p.Met1539Ile) c.4368G>C (p.Met1456Ile) c.4290G>C (p.Met1430Ile) c.4266G>C (p.Met1422Ile) | |
14 | g.74503358C>T | CA390384839 | LTBP2 | c.4749G>A (p.Met1583Ile) c.4617G>A (p.Met1539Ile) c.4368G>A (p.Met1456Ile) c.4290G>A (p.Met1430Ile) c.4266G>A (p.Met1422Ile) | gnomAD v4 |
14 | g.74503359A= | CA2147075277 | LTBP2 | c.4748T= (p.Met1583=) c.4616T= (p.Met1539=) c.4367T= (p.Met1456=) c.4289T= (p.Met1430=) c.4265T= (p.Met1422=) | |
14 | g.74503359A>C | CA390384841 | LTBP2 | c.4748T>G (p.Met1583Arg) c.4616T>G (p.Met1539Arg) c.4367T>G (p.Met1456Arg) c.4289T>G (p.Met1430Arg) c.4265T>G (p.Met1422Arg) | gnomAD v4 |
14 | g.74503359A>G | CA390384843 | LTBP2 | c.4748T>C (p.Met1583Thr) c.4616T>C (p.Met1539Thr) c.4367T>C (p.Met1456Thr) c.4289T>C (p.Met1430Thr) c.4265T>C (p.Met1422Thr) | dbSNP gnomAD v4 |
14 | g.74503359A>T | CA390384844 | LTBP2 | c.4748T>A (p.Met1583Lys) c.4616T>A (p.Met1539Lys) c.4367T>A (p.Met1456Lys) c.4289T>A (p.Met1430Lys) c.4265T>A (p.Met1422Lys) | |
14 | g.74503360T>A | CA390384849 | LTBP2 | c.4747A>T (p.Met1583Leu) c.4615A>T (p.Met1539Leu) c.4366A>T (p.Met1456Leu) c.4288A>T (p.Met1430Leu) c.4264A>T (p.Met1422Leu) | gnomAD v4 |
14 | g.74503360T>C | CA390384846 | LTBP2 | c.4747A>G (p.Met1583Val) c.4615A>G (p.Met1539Val) c.4366A>G (p.Met1456Val) c.4288A>G (p.Met1430Val) c.4264A>G (p.Met1422Val) | |
14 | g.74503360T>G | CA390384848 | LTBP2 | c.4747A>C (p.Met1583Leu) c.4615A>C (p.Met1539Leu) c.4366A>C (p.Met1456Leu) c.4288A>C (p.Met1430Leu) c.4264A>C (p.Met1422Leu) | |
14 | g.74503361G>A | CA487267160 | LTBP2 | c.4746C>T (p.His1582=) c.4614C>T (p.His1538=) c.4365C>T (p.His1455=) c.4287C>T (p.His1429=) c.4263C>T (p.His1421=) | gnomAD v4 |
14 | g.74503361G>C | CA390384850 | LTBP2 | c.4746C>G (p.His1582Gln) c.4614C>G (p.His1538Gln) c.4365C>G (p.His1455Gln) c.4287C>G (p.His1429Gln) c.4263C>G (p.His1421Gln) | |
14 | g.74503361G= | CA2147075279 | LTBP2 | c.4746C= (p.His1582=) c.4614C= (p.His1538=) c.4365C= (p.His1455=) c.4287C= (p.His1429=) c.4263C= (p.His1421=) | |
14 | g.74503361G>T | CA390384851 | LTBP2 | c.4746C>A (p.His1582Gln) c.4614C>A (p.His1538Gln) c.4365C>A (p.His1455Gln) c.4287C>A (p.His1429Gln) c.4263C>A (p.His1421Gln) | dbSNP |
14 | g.74503362T>A | CA390384854 | LTBP2 | c.4745A>T (p.His1582Leu) c.4613A>T (p.His1538Leu) c.4364A>T (p.His1455Leu) c.4286A>T (p.His1429Leu) c.4262A>T (p.His1421Leu) | |
14 | g.74503362T>C | CA390384856 | LTBP2 | c.4745A>G (p.His1582Arg) c.4613A>G (p.His1538Arg) c.4364A>G (p.His1455Arg) c.4286A>G (p.His1429Arg) c.4262A>G (p.His1421Arg) | |
14 | g.74503362T>G | CA390384857 | LTBP2 | c.4745A>C (p.His1582Pro) c.4613A>C (p.His1538Pro) c.4364A>C (p.His1455Pro) c.4286A>C (p.His1429Pro) c.4262A>C (p.His1421Pro) | |
14 | g.74503363G>A | CA7268643 | LTBP2 | c.4744C>T (p.His1582Tyr) c.4612C>T (p.His1538Tyr) c.4363C>T (p.His1455Tyr) c.4285C>T (p.His1429Tyr) c.4261C>T (p.His1421Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503363G>C | CA390384860 | LTBP2 | c.4744C>G (p.His1582Asp) c.4612C>G (p.His1538Asp) c.4363C>G (p.His1455Asp) c.4285C>G (p.His1429Asp) c.4261C>G (p.His1421Asp) | |
14 | g.74503363G= | CA2147075281 | LTBP2 | c.4744C= (p.His1582=) c.4612C= (p.His1538=) c.4363C= (p.His1455=) c.4285C= (p.His1429=) c.4261C= (p.His1421=) | |
14 | g.74503363G>T | CA390384862 | LTBP2 | c.4744C>A (p.His1582Asn) c.4612C>A (p.His1538Asn) c.4363C>A (p.His1455Asn) c.4285C>A (p.His1429Asn) c.4261C>A (p.His1421Asn) | |
14 | g.74503364G>A | CA487267161 | LTBP2 | c.4743C>T (p.Ile1581=) c.4611C>T (p.Ile1537=) c.4362C>T (p.Ile1454=) c.4284C>T (p.Ile1428=) c.4260C>T (p.Ile1420=) | |
14 | g.74503364G>C | CA390384864 | LTBP2 | c.4743C>G (p.Ile1581Met) c.4611C>G (p.Ile1537Met) c.4362C>G (p.Ile1454Met) c.4284C>G (p.Ile1428Met) c.4260C>G (p.Ile1420Met) | |
14 | g.74503364G= | CA2147075283 | LTBP2 | c.4743C= (p.Ile1581=) c.4611C= (p.Ile1537=) c.4362C= (p.Ile1454=) c.4284C= (p.Ile1428=) c.4260C= (p.Ile1420=) | |
14 | g.74503364G>T | CA7268644 | LTBP2 | c.4743C>A (p.Ile1581=) c.4611C>A (p.Ile1537=) c.4362C>A (p.Ile1454=) c.4284C>A (p.Ile1428=) c.4260C>A (p.Ile1420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503365A= | CA2147075285 | LTBP2 | c.4742T= (p.Ile1581=) c.4610T= (p.Ile1537=) c.4361T= (p.Ile1454=) c.4283T= (p.Ile1428=) c.4259T= (p.Ile1420=) | |
14 | g.74503365A>C | CA390384867 | LTBP2 | c.4742T>G (p.Ile1581Ser) c.4610T>G (p.Ile1537Ser) c.4361T>G (p.Ile1454Ser) c.4283T>G (p.Ile1428Ser) c.4259T>G (p.Ile1420Ser) | |
14 | g.74503365A>G | CA390384869 | LTBP2 | c.4742T>C (p.Ile1581Thr) c.4610T>C (p.Ile1537Thr) c.4361T>C (p.Ile1454Thr) c.4283T>C (p.Ile1428Thr) c.4259T>C (p.Ile1420Thr) | dbSNP |
14 | g.74503365A>T | CA390384871 | LTBP2 | c.4742T>A (p.Ile1581Asn) c.4610T>A (p.Ile1537Asn) c.4361T>A (p.Ile1454Asn) c.4283T>A (p.Ile1428Asn) c.4259T>A (p.Ile1420Asn) | |
14 | g.74503366T>A | CA390384873 | LTBP2 | c.4741A>T (p.Ile1581Phe) c.4609A>T (p.Ile1537Phe) c.4360A>T (p.Ile1454Phe) c.4282A>T (p.Ile1428Phe) c.4258A>T (p.Ile1420Phe) | |
14 | g.74503366T>C | CA390384877 | LTBP2 | c.4741A>G (p.Ile1581Val) c.4609A>G (p.Ile1537Val) c.4360A>G (p.Ile1454Val) c.4282A>G (p.Ile1428Val) c.4258A>G (p.Ile1420Val) | |
14 | g.74503366T>G | CA390384874 | LTBP2 | c.4741A>C (p.Ile1581Leu) c.4609A>C (p.Ile1537Leu) c.4360A>C (p.Ile1454Leu) c.4282A>C (p.Ile1428Leu) c.4258A>C (p.Ile1420Leu) | |
14 | g.74503367G>A | CA487267162 | LTBP2 | c.4740C>T (p.Asp1580=) c.4608C>T (p.Asp1536=) c.4359C>T (p.Asp1453=) c.4281C>T (p.Asp1427=) c.4257C>T (p.Asp1419=) | gnomAD v4 |
14 | g.74503367G>C | CA390384878 | LTBP2 | c.4740C>G (p.Asp1580Glu) c.4608C>G (p.Asp1536Glu) c.4359C>G (p.Asp1453Glu) c.4281C>G (p.Asp1427Glu) c.4257C>G (p.Asp1419Glu) | |
14 | g.74503367G>T | CA390384880 | LTBP2 | c.4740C>A (p.Asp1580Glu) c.4608C>A (p.Asp1536Glu) c.4359C>A (p.Asp1453Glu) c.4281C>A (p.Asp1427Glu) c.4257C>A (p.Asp1419Glu) | |
14 | g.74503368T>A | CA390384882 | LTBP2 | c.4739A>T (p.Asp1580Val) c.4607A>T (p.Asp1536Val) c.4358A>T (p.Asp1453Val) c.4280A>T (p.Asp1427Val) c.4256A>T (p.Asp1419Val) | |
14 | g.74503368T>C | CA390384884 | LTBP2 | c.4739A>G (p.Asp1580Gly) c.4607A>G (p.Asp1536Gly) c.4358A>G (p.Asp1453Gly) c.4280A>G (p.Asp1427Gly) c.4256A>G (p.Asp1419Gly) | |
14 | g.74503368T>G | CA390384885 | LTBP2 | c.4739A>C (p.Asp1580Ala) c.4607A>C (p.Asp1536Ala) c.4358A>C (p.Asp1453Ala) c.4280A>C (p.Asp1427Ala) c.4256A>C (p.Asp1419Ala) | |
14 | g.74503369C>A | CA390384889 | LTBP2 | c.4738G>T (p.Asp1580Tyr) c.4606G>T (p.Asp1536Tyr) c.4357G>T (p.Asp1453Tyr) c.4279G>T (p.Asp1427Tyr) c.4255G>T (p.Asp1419Tyr) | |
14 | g.74503369C= | CA2147075287 | LTBP2 | c.4738G= (p.Asp1580=) c.4606G= (p.Asp1536=) c.4357G= (p.Asp1453=) c.4279G= (p.Asp1427=) c.4255G= (p.Asp1419=) | |
14 | g.74503369C>G | CA390384887 | LTBP2 | c.4738G>C (p.Asp1580His) c.4606G>C (p.Asp1536His) c.4357G>C (p.Asp1453His) c.4279G>C (p.Asp1427His) c.4255G>C (p.Asp1419His) | |
14 | g.74503369C>T | CA7268645 | LTBP2 | c.4738G>A (p.Asp1580Asn) c.4606G>A (p.Asp1536Asn) c.4357G>A (p.Asp1453Asn) c.4279G>A (p.Asp1427Asn) c.4255G>A (p.Asp1419Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503370G>A | CA7268646 | LTBP2 | c.4737C>T (p.His1579=) c.4605C>T (p.His1535=) c.4356C>T (p.His1452=) c.4278C>T (p.His1426=) c.4254C>T (p.His1418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503370G>C | CA390384892 | LTBP2 | c.4737C>G (p.His1579Gln) c.4605C>G (p.His1535Gln) c.4356C>G (p.His1452Gln) c.4278C>G (p.His1426Gln) c.4254C>G (p.His1418Gln) | |
14 | g.74503370G= | CA2147075288 | LTBP2 | c.4737C= (p.His1579=) c.4605C= (p.His1535=) c.4356C= (p.His1452=) c.4278C= (p.His1426=) c.4254C= (p.His1418=) | |
14 | g.74503370G>T | CA390384894 | LTBP2 | c.4737C>A (p.His1579Gln) c.4605C>A (p.His1535Gln) c.4356C>A (p.His1452Gln) c.4278C>A (p.His1426Gln) c.4254C>A (p.His1418Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503371T>A | CA390384895 | LTBP2 | c.4736A>T (p.His1579Leu) c.4604A>T (p.His1535Leu) c.4355A>T (p.His1452Leu) c.4277A>T (p.His1426Leu) c.4253A>T (p.His1418Leu) | |
14 | g.74503371T>C | CA390384897 | LTBP2 | c.4736A>G (p.His1579Arg) c.4604A>G (p.His1535Arg) c.4355A>G (p.His1452Arg) c.4277A>G (p.His1426Arg) c.4253A>G (p.His1418Arg) | |
14 | g.74503371T>G | CA390384899 | LTBP2 | c.4736A>C (p.His1579Pro) c.4604A>C (p.His1535Pro) c.4355A>C (p.His1452Pro) c.4277A>C (p.His1426Pro) c.4253A>C (p.His1418Pro) | |
14 | g.74503372G>A | CA390384901 | LTBP2 | c.4735C>T (p.His1579Tyr) c.4603C>T (p.His1535Tyr) c.4354C>T (p.His1452Tyr) c.4276C>T (p.His1426Tyr) c.4252C>T (p.His1418Tyr) | gnomAD v4 |
14 | g.74503372G>C | CA390384906 | LTBP2 | c.4735C>G (p.His1579Asp) c.4603C>G (p.His1535Asp) c.4354C>G (p.His1452Asp) c.4276C>G (p.His1426Asp) c.4252C>G (p.His1418Asp) | |
14 | g.74503372G>T | CA390384903 | LTBP2 | c.4735C>A (p.His1579Asn) c.4603C>A (p.His1535Asn) c.4354C>A (p.His1452Asn) c.4276C>A (p.His1426Asn) c.4252C>A (p.His1418Asn) | COSMIC |
14 | g.74503373G>A | CA487267163 | LTBP2 | c.4734C>T (p.Asp1578=) c.4602C>T (p.Asp1534=) c.4353C>T (p.Asp1451=) c.4275C>T (p.Asp1425=) c.4251C>T (p.Asp1417=) | dbSNP |
14 | g.74503373G>C | CA390384908 | LTBP2 | c.4734C>G (p.Asp1578Glu) c.4602C>G (p.Asp1534Glu) c.4353C>G (p.Asp1451Glu) c.4275C>G (p.Asp1425Glu) c.4251C>G (p.Asp1417Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503373G= | CA2147075290 | LTBP2 | c.4734C= (p.Asp1578=) c.4602C= (p.Asp1534=) c.4353C= (p.Asp1451=) c.4275C= (p.Asp1425=) c.4251C= (p.Asp1417=) | |
14 | g.74503373G>T | CA390384910 | LTBP2 | c.4734C>A (p.Asp1578Glu) c.4602C>A (p.Asp1534Glu) c.4353C>A (p.Asp1451Glu) c.4275C>A (p.Asp1425Glu) c.4251C>A (p.Asp1417Glu) | |
14 | g.74503374T>A | CA390384912 | LTBP2 | c.4733A>T (p.Asp1578Val) c.4601A>T (p.Asp1534Val) c.4352A>T (p.Asp1451Val) c.4274A>T (p.Asp1425Val) c.4250A>T (p.Asp1417Val) | |
14 | g.74503374T>C | CA390384913 | LTBP2 | c.4733A>G (p.Asp1578Gly) c.4601A>G (p.Asp1534Gly) c.4352A>G (p.Asp1451Gly) c.4274A>G (p.Asp1425Gly) c.4250A>G (p.Asp1417Gly) | |
14 | g.74503374T>G | CA390384915 | LTBP2 | c.4733A>C (p.Asp1578Ala) c.4601A>C (p.Asp1534Ala) c.4352A>C (p.Asp1451Ala) c.4274A>C (p.Asp1425Ala) c.4250A>C (p.Asp1417Ala) | |
14 | g.74503375C>A | CA390384917 | LTBP2 | c.4732G>T (p.Asp1578Tyr) c.4600G>T (p.Asp1534Tyr) c.4351G>T (p.Asp1451Tyr) c.4273G>T (p.Asp1425Tyr) c.4249G>T (p.Asp1417Tyr) | |
14 | g.74503375C>G | CA390384918 | LTBP2 | c.4732G>C (p.Asp1578His) c.4600G>C (p.Asp1534His) c.4351G>C (p.Asp1451His) c.4273G>C (p.Asp1425His) c.4249G>C (p.Asp1417His) | |
14 | g.74503375C>T | CA390384920 | LTBP2 | c.4732G>A (p.Asp1578Asn) c.4600G>A (p.Asp1534Asn) c.4351G>A (p.Asp1451Asn) c.4273G>A (p.Asp1425Asn) c.4249G>A (p.Asp1417Asn) | |
14 | g.74503376A= | CA2147075291 | LTBP2 | c.4731T= (p.Pro1577=) c.4599T= (p.Pro1533=) c.4350T= (p.Pro1450=) c.4272T= (p.Pro1424=) c.4248T= (p.Pro1416=) | |
14 | g.74503376A>C | CA487267164 | LTBP2 | c.4731T>G (p.Pro1577=) c.4599T>G (p.Pro1533=) c.4350T>G (p.Pro1450=) c.4272T>G (p.Pro1424=) c.4248T>G (p.Pro1416=) | |
14 | g.74503376A>G | CA487267165 | LTBP2 | c.4731T>C (p.Pro1577=) c.4599T>C (p.Pro1533=) c.4350T>C (p.Pro1450=) c.4272T>C (p.Pro1424=) c.4248T>C (p.Pro1416=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503376A>T | CA487267166 | LTBP2 | c.4731T>A (p.Pro1577=) c.4599T>A (p.Pro1533=) c.4350T>A (p.Pro1450=) c.4272T>A (p.Pro1424=) c.4248T>A (p.Pro1416=) | |
14 | g.74503377G>A | CA390384923 | LTBP2 | c.4730C>T (p.Pro1577Leu) c.4598C>T (p.Pro1533Leu) c.4349C>T (p.Pro1450Leu) c.4271C>T (p.Pro1424Leu) c.4247C>T (p.Pro1416Leu) | dbSNP gnomAD v2 |
14 | g.74503377G>C | CA390384924 | LTBP2 | c.4730C>G (p.Pro1577Arg) c.4598C>G (p.Pro1533Arg) c.4349C>G (p.Pro1450Arg) c.4271C>G (p.Pro1424Arg) c.4247C>G (p.Pro1416Arg) | |
14 | g.74503377G= | CA2147075293 | LTBP2 | c.4730C= (p.Pro1577=) c.4598C= (p.Pro1533=) c.4349C= (p.Pro1450=) c.4271C= (p.Pro1424=) c.4247C= (p.Pro1416=) | |
14 | g.74503377G>T | CA390384925 | LTBP2 | c.4730C>A (p.Pro1577His) c.4598C>A (p.Pro1533His) c.4349C>A (p.Pro1450His) c.4271C>A (p.Pro1424His) c.4247C>A (p.Pro1416His) | |
14 | g.74503378G>A | CA390384931 | LTBP2 | c.4729C>T (p.Pro1577Ser) c.4597C>T (p.Pro1533Ser) c.4348C>T (p.Pro1450Ser) c.4270C>T (p.Pro1424Ser) c.4246C>T (p.Pro1416Ser) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.74503378G>C | CA390384930 | LTBP2 | c.4729C>G (p.Pro1577Ala) c.4597C>G (p.Pro1533Ala) c.4348C>G (p.Pro1450Ala) c.4270C>G (p.Pro1424Ala) c.4246C>G (p.Pro1416Ala) | |
14 | g.74503378G= | CA2147075294 | LTBP2 | c.4729C= (p.Pro1577=) c.4597C= (p.Pro1533=) c.4348C= (p.Pro1450=) c.4270C= (p.Pro1424=) c.4246C= (p.Pro1416=) | |
14 | g.74503378G>T | CA390384927 | LTBP2 | c.4729C>A (p.Pro1577Thr) c.4597C>A (p.Pro1533Thr) c.4348C>A (p.Pro1450Thr) c.4270C>A (p.Pro1424Thr) c.4246C>A (p.Pro1416Thr) | |
14 | g.74503379G>A | CA487267167 | LTBP2 | c.4728C>T (p.Leu1576=) c.4596C>T (p.Leu1532=) c.4347C>T (p.Leu1449=) c.4269C>T (p.Leu1423=) c.4245C>T (p.Leu1415=) | |
14 | g.74503379G>C | CA487267168 | LTBP2 | c.4728C>G (p.Leu1576=) c.4596C>G (p.Leu1532=) c.4347C>G (p.Leu1449=) c.4269C>G (p.Leu1423=) c.4245C>G (p.Leu1415=) | |
14 | g.74503379G>T | CA487267169 | LTBP2 | c.4728C>A (p.Leu1576=) c.4596C>A (p.Leu1532=) c.4347C>A (p.Leu1449=) c.4269C>A (p.Leu1423=) c.4245C>A (p.Leu1415=) | |
14 | g.74503380A>C | CA390384933 | LTBP2 | c.4727T>G (p.Leu1576Arg) c.4595T>G (p.Leu1532Arg) c.4346T>G (p.Leu1449Arg) c.4268T>G (p.Leu1423Arg) c.4244T>G (p.Leu1415Arg) | |
14 | g.74503380A>G | CA390384932 | LTBP2 | c.4727T>C (p.Leu1576Pro) c.4595T>C (p.Leu1532Pro) c.4346T>C (p.Leu1449Pro) c.4268T>C (p.Leu1423Pro) c.4244T>C (p.Leu1415Pro) | gnomAD v4 |
14 | g.74503380A>T | CA390384934 | LTBP2 | c.4727T>A (p.Leu1576His) c.4595T>A (p.Leu1532His) c.4346T>A (p.Leu1449His) c.4268T>A (p.Leu1423His) c.4244T>A (p.Leu1415His) | gnomAD v4 |
14 | g.74503381G>A | CA390384935 | LTBP2 | c.4726C>T (p.Leu1576Phe) c.4594C>T (p.Leu1532Phe) c.4345C>T (p.Leu1449Phe) c.4267C>T (p.Leu1423Phe) c.4243C>T (p.Leu1415Phe) | |
14 | g.74503381G>C | CA390384936 | LTBP2 | c.4726C>G (p.Leu1576Val) c.4594C>G (p.Leu1532Val) c.4345C>G (p.Leu1449Val) c.4267C>G (p.Leu1423Val) c.4243C>G (p.Leu1415Val) | |
14 | g.74503381G>T | CA390384937 | LTBP2 | c.4726C>A (p.Leu1576Ile) c.4594C>A (p.Leu1532Ile) c.4345C>A (p.Leu1449Ile) c.4267C>A (p.Leu1423Ile) c.4243C>A (p.Leu1415Ile) | gnomAD v4 |
14 | g.74503382G>A | CA487267170 | LTBP2 | c.4725C>T (p.Asp1575=) c.4593C>T (p.Asp1531=) c.4344C>T (p.Asp1448=) c.4266C>T (p.Asp1422=) c.4242C>T (p.Asp1414=) | gnomAD v4 |
14 | g.74503382G>C | CA390384938 | LTBP2 | c.4725C>G (p.Asp1575Glu) c.4593C>G (p.Asp1531Glu) c.4344C>G (p.Asp1448Glu) c.4266C>G (p.Asp1422Glu) c.4242C>G (p.Asp1414Glu) | dbSNP |
14 | g.74503382G= | CA2147075295 | LTBP2 | c.4725C= (p.Asp1575=) c.4593C= (p.Asp1531=) c.4344C= (p.Asp1448=) c.4266C= (p.Asp1422=) c.4242C= (p.Asp1414=) | |
14 | g.74503382G>T | CA390384939 | LTBP2 | c.4725C>A (p.Asp1575Glu) c.4593C>A (p.Asp1531Glu) c.4344C>A (p.Asp1448Glu) c.4266C>A (p.Asp1422Glu) c.4242C>A (p.Asp1414Glu) | |
14 | g.74503383T>A | CA390384940 | LTBP2 | c.4724A>T (p.Asp1575Val) c.4592A>T (p.Asp1531Val) c.4343A>T (p.Asp1448Val) c.4265A>T (p.Asp1422Val) c.4241A>T (p.Asp1414Val) | |
14 | g.74503383T>C | CA390384941 | LTBP2 | c.4724A>G (p.Asp1575Gly) c.4592A>G (p.Asp1531Gly) c.4343A>G (p.Asp1448Gly) c.4265A>G (p.Asp1422Gly) c.4241A>G (p.Asp1414Gly) | |
14 | g.74503383T>G | CA390384942 | LTBP2 | c.4724A>C (p.Asp1575Ala) c.4592A>C (p.Asp1531Ala) c.4343A>C (p.Asp1448Ala) c.4265A>C (p.Asp1422Ala) c.4241A>C (p.Asp1414Ala) | |
14 | g.74503384C>A | CA390384943 | LTBP2 | c.4723G>T (p.Asp1575Tyr) c.4591G>T (p.Asp1531Tyr) c.4342G>T (p.Asp1448Tyr) c.4264G>T (p.Asp1422Tyr) c.4240G>T (p.Asp1414Tyr) | gnomAD v4 |
14 | g.74503384C>G | CA390384944 | LTBP2 | c.4723G>C (p.Asp1575His) c.4591G>C (p.Asp1531His) c.4342G>C (p.Asp1448His) c.4264G>C (p.Asp1422His) c.4240G>C (p.Asp1414His) | |
14 | g.74503384C>T | CA390384945 | LTBP2 | c.4723G>A (p.Asp1575Asn) c.4591G>A (p.Asp1531Asn) c.4342G>A (p.Asp1448Asn) c.4264G>A (p.Asp1422Asn) c.4240G>A (p.Asp1414Asn) | gnomAD v4 |
14 | g.74503385C>A | CA390384946 | LTBP2 | c.4722G>T (p.Glu1574Asp) c.4590G>T (p.Glu1530Asp) c.4341G>T (p.Glu1447Asp) c.4263G>T (p.Glu1421Asp) c.4239G>T (p.Glu1413Asp) | |
14 | g.74503385C= | CA2147075296 | LTBP2 | c.4722G= (p.Glu1574=) c.4590G= (p.Glu1530=) c.4341G= (p.Glu1447=) c.4263G= (p.Glu1421=) c.4239G= (p.Glu1413=) | |
14 | g.74503385C>G | CA7268647 | LTBP2 | c.4722G>C (p.Glu1574Asp) c.4590G>C (p.Glu1530Asp) c.4341G>C (p.Glu1447Asp) c.4263G>C (p.Glu1421Asp) c.4239G>C (p.Glu1413Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503385C>T | CA487267171 | LTBP2 | c.4722G>A (p.Glu1574=) c.4590G>A (p.Glu1530=) c.4341G>A (p.Glu1447=) c.4263G>A (p.Glu1421=) c.4239G>A (p.Glu1413=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74503386T>A | CA390384949 | LTBP2 | c.4721A>T (p.Glu1574Val) c.4589A>T (p.Glu1530Val) c.4340A>T (p.Glu1447Val) c.4262A>T (p.Glu1421Val) c.4238A>T (p.Glu1413Val) | |
14 | g.74503386T>C | CA390384947 | LTBP2 | c.4721A>G (p.Glu1574Gly) c.4589A>G (p.Glu1530Gly) c.4340A>G (p.Glu1447Gly) c.4262A>G (p.Glu1421Gly) c.4238A>G (p.Glu1413Gly) | |
14 | g.74503386T>G | CA390384948 | LTBP2 | c.4721A>C (p.Glu1574Ala) c.4589A>C (p.Glu1530Ala) c.4340A>C (p.Glu1447Ala) c.4262A>C (p.Glu1421Ala) c.4238A>C (p.Glu1413Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503386T= | CA2147075297 | LTBP2 | c.4721A= (p.Glu1574=) c.4589A= (p.Glu1530=) c.4340A= (p.Glu1447=) c.4262A= (p.Glu1421=) c.4238A= (p.Glu1413=) | |
14 | g.74503387C>A | CA390384950 | LTBP2 | c.4721-1G>T (n.4721-1G>T) c.4589-1G>T (n.4589-1G>T) c.4340-1G>T (n.4340-1G>T) c.4262-1G>T (n.4262-1G>T) c.4238-1G>T (n.4238-1G>T) | |
14 | g.74503387C>G | CA390384951 | LTBP2 | c.4721-1G>C (n.4721-1G>C) c.4589-1G>C (n.4589-1G>C) c.4340-1G>C (n.4340-1G>C) c.4262-1G>C (n.4262-1G>C) c.4238-1G>C (n.4238-1G>C) | gnomAD v4 |
14 | g.74503387C>T | CA390384952 | LTBP2 | c.4721-1G>A (n.4721-1G>A) c.4589-1G>A (n.4589-1G>A) c.4340-1G>A (n.4340-1G>A) c.4262-1G>A (n.4262-1G>A) c.4238-1G>A (n.4238-1G>A) | |
14 | g.74503388_74503469del | CA2802156392 | LTBP2 | c.4720+1_4721-1del c.4588+1_4589-1del c.4339+1_4340-1del c.4261+1_4262-1del c.4237+1_4238-1del | |
14 | g.74503388T>A | CA390384953 | LTBP2 | c.4721-2A>T (n.4721-2A>T) c.4589-2A>T (n.4589-2A>T) c.4340-2A>T (n.4340-2A>T) c.4262-2A>T (n.4262-2A>T) c.4238-2A>T (n.4238-2A>T) | |
14 | g.74503388T>C | CA390384954 | LTBP2 | c.4721-2A>G (n.4721-2A>G) c.4589-2A>G (n.4589-2A>G) c.4340-2A>G (n.4340-2A>G) c.4262-2A>G (n.4262-2A>G) c.4238-2A>G (n.4238-2A>G) | |
14 | g.74503388T>G | CA390384955 | LTBP2 | c.4721-2A>C (n.4721-2A>C) c.4589-2A>C (n.4589-2A>C) c.4340-2A>C (n.4340-2A>C) c.4262-2A>C (n.4262-2A>C) c.4238-2A>C (n.4238-2A>C) | |
14 | g.74503390_74503414del | CA2625668654 | LTBP2 | c.4721-26_4721-2del (n.4721-26_4721-2del) c.4589-26_4589-2del (n.4589-26_4589-2del) c.4340-26_4340-2del (n.4340-26_4340-2del) c.4262-26_4262-2del (n.4262-26_4262-2del) c.4238-26_4238-2del (n.4238-26_4238-2del) | gnomAD v4 |
14 | g.74503390G>A | CA2147075299 | LTBP2 | c.4721-4C>T (n.4721-4C>T) c.4589-4C>T (n.4589-4C>T) c.4340-4C>T (n.4340-4C>T) c.4262-4C>T (n.4262-4C>T) c.4238-4C>T (n.4238-4C>T) | dbSNP |
14 | g.74503390G= | CA2147075298 | LTBP2 | c.4721-4C= (n.4721-4C=) c.4589-4C= (n.4589-4C=) c.4340-4C= (n.4340-4C=) c.4262-4C= (n.4262-4C=) c.4238-4C= (n.4238-4C=) | |
14 | g.74503390_74503391delinsGT | CA2147075300 | LTBP2 | c.4721-5_4721-4delinsAC (n.4721-5_4721-4delinsAC) c.4589-5_4589-4delinsAC (n.4589-5_4589-4delinsAC) c.4340-5_4340-4delinsAC (n.4340-5_4340-4delinsAC) c.4262-5_4262-4delinsAC (n.4262-5_4262-4delinsAC) c.4238-5_4238-4delinsAC (n.4238-5_4238-4delinsAC) | |
14 | g.74503391del | CA2147075301 | LTBP2 | c.4721-5del (n.4721-5del) c.4589-5del (n.4589-5del) c.4340-5del (n.4340-5del) c.4262-5del (n.4262-5del) c.4238-5del (n.4238-5del) | dbSNP gnomAD v4 |
14 | g.74503392G>A | CA7268648 | LTBP2 | c.4721-6C>T (n.4721-6C>T) c.4589-6C>T (n.4589-6C>T) c.4340-6C>T (n.4340-6C>T) c.4262-6C>T (n.4262-6C>T) c.4238-6C>T (n.4238-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503392G= | CA2147075302 | LTBP2 | c.4721-6C= (n.4721-6C=) c.4589-6C= (n.4589-6C=) c.4340-6C= (n.4340-6C=) c.4262-6C= (n.4262-6C=) c.4238-6C= (n.4238-6C=) | |
14 | g.74503393G>A | CA2625668658 | LTBP2 | c.4721-7C>T (n.4721-7C>T) c.4589-7C>T (n.4589-7C>T) c.4340-7C>T (n.4340-7C>T) c.4262-7C>T (n.4262-7C>T) c.4238-7C>T (n.4238-7C>T) | gnomAD v4 |
14 | g.74503394C>T | CA2625668660 | LTBP2 | c.4721-8G>A (n.4721-8G>A) c.4589-8G>A (n.4589-8G>A) c.4340-8G>A (n.4340-8G>A) c.4262-8G>A (n.4262-8G>A) c.4238-8G>A (n.4238-8G>A) | dbSNP gnomAD v4 |
14 | g.74503396C= | CA2147075303 | LTBP2 | c.4721-10G= (n.4721-10G=) c.4589-10G= (n.4589-10G=) c.4340-10G= (n.4340-10G=) c.4262-10G= (n.4262-10G=) c.4238-10G= (n.4238-10G=) | |
14 | g.74503396C>T | CA263578922 | LTBP2 | c.4721-10G>A (n.4721-10G>A) c.4589-10G>A (n.4589-10G>A) c.4340-10G>A (n.4340-10G>A) c.4262-10G>A (n.4262-10G>A) c.4238-10G>A (n.4238-10G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.74503398G>A | CA2625668666 | LTBP2 | c.4721-12C>T (n.4721-12C>T) c.4589-12C>T (n.4589-12C>T) c.4340-12C>T (n.4340-12C>T) c.4262-12C>T (n.4262-12C>T) c.4238-12C>T (n.4238-12C>T) | gnomAD v4 |
14 | g.74503398G>C | CA2739278664 | LTBP2 | c.4721-12C>G (n.4721-12C>G) c.4589-12C>G (n.4589-12C>G) c.4340-12C>G (n.4340-12C>G) c.4262-12C>G (n.4262-12C>G) c.4238-12C>G (n.4238-12C>G) | ClinVar |
14 | g.74503398G>T | CA2575576895 | LTBP2 | c.4721-12C>A (n.4721-12C>A) c.4589-12C>A (n.4589-12C>A) c.4340-12C>A (n.4340-12C>A) c.4262-12C>A (n.4262-12C>A) c.4238-12C>A (n.4238-12C>A) | gnomAD v4 |
14 | g.74503399G>A | CA7268649 | LTBP2 | c.4721-13C>T (n.4721-13C>T) c.4589-13C>T (n.4589-13C>T) c.4340-13C>T (n.4340-13C>T) c.4262-13C>T (n.4262-13C>T) c.4238-13C>T (n.4238-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.74503399G= | CA2147075304 | LTBP2 | c.4721-13C= (n.4721-13C=) c.4589-13C= (n.4589-13C=) c.4340-13C= (n.4340-13C=) c.4262-13C= (n.4262-13C=) c.4238-13C= (n.4238-13C=) | |
14 | g.74503400G>A | CA615193021 | LTBP2 | c.4721-14C>T (n.4721-14C>T) c.4589-14C>T (n.4589-14C>T) c.4340-14C>T (n.4340-14C>T) c.4262-14C>T (n.4262-14C>T) c.4238-14C>T (n.4238-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.74503400G>C | CA2625668670 | LTBP2 | c.4721-14C>G (n.4721-14C>G) c.4589-14C>G (n.4589-14C>G) c.4340-14C>G (n.4340-14C>G) c.4262-14C>G (n.4262-14C>G) c.4238-14C>G (n.4238-14C>G) | gnomAD v4 |
14 | g.74503400G= | CA2147075305 | LTBP2 | c.4721-14C= (n.4721-14C=) c.4589-14C= (n.4589-14C=) c.4340-14C= (n.4340-14C=) c.4262-14C= (n.4262-14C=) c.4238-14C= (n.4238-14C=) |