Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41352829C>A | CA507690132 | TGFB1,TMEM91 | c.216G>T (p.Pro72=) c.-30+1627C>A (n.-30+1627C>A) n.350+1627C>A | gnomAD v4 |
19 | g.41352829C= | CA2336426122 | TGFB1,TMEM91 | c.216G= (p.Pro72=) c.-30+1627C= (n.-30+1627C=) n.350+1627C= | |
19 | g.41352829C>G | CA507690133 | TGFB1,TMEM91 | c.216G>C (p.Pro72=) c.-30+1627C>G (n.-30+1627C>G) n.350+1627C>G | gnomAD v4 |
19 | g.41352829C>T | CA308518542 | TGFB1,TMEM91 | c.216G>A (p.Pro72=) c.-30+1627C>T (n.-30+1627C>T) n.350+1627C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352830G>A | CA406005516 | TGFB1,TMEM91 | c.215C>T (p.Pro72Leu) c.-30+1628G>A (n.-30+1628G>A) n.350+1628G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352830G>C | CA406005519 | TGFB1,TMEM91 | c.215C>G (p.Pro72Arg) c.-30+1628G>C (n.-30+1628G>C) n.350+1628G>C | gnomAD v4 |
19 | g.41352830G= | CA2336426123 | TGFB1,TMEM91 | c.215C= (p.Pro72=) c.-30+1628G= (n.-30+1628G=) n.350+1628G= | |
19 | g.41352830G>T | CA9460161 | TGFB1,TMEM91 | c.215C>A (p.Pro72Gln) c.-30+1628G>T (n.-30+1628G>T) n.350+1628G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41352831G>A | CA406005531 | TGFB1,TMEM91 | c.214C>T (p.Pro72Ser) c.-30+1629G>A (n.-30+1629G>A) n.350+1629G>A | |
19 | g.41352831G>C | CA406005528 | TGFB1,TMEM91 | c.214C>G (p.Pro72Ala) c.-30+1629G>C (n.-30+1629G>C) n.350+1629G>C | |
19 | g.41352831G>T | CA406005525 | TGFB1,TMEM91 | c.214C>A (p.Pro72Thr) c.-30+1629G>T (n.-30+1629G>T) n.350+1629G>T | |
19 | g.41352832G>A | CA507690137 | TGFB1,TMEM91 | c.213C>T (p.Gly71=) c.-30+1630G>A (n.-30+1630G>A) n.350+1630G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352832G>C | CA507690138 | TGFB1,TMEM91 | c.213C>G (p.Gly71=) c.-30+1630G>C (n.-30+1630G>C) n.350+1630G>C | |
19 | g.41352832G= | CA2336426124 | TGFB1,TMEM91 | c.213C= (p.Gly71=) c.-30+1630G= (n.-30+1630G=) n.350+1630G= | |
19 | g.41352832G>T | CA507690139 | TGFB1,TMEM91 | c.213C>A (p.Gly71=) c.-30+1630G>T (n.-30+1630G>T) n.350+1630G>T | dbSNP |
19 | g.41352833C>A | CA406005538 | TGFB1,TMEM91 | c.212G>T (p.Gly71Val) c.-30+1631C>A (n.-30+1631C>A) n.350+1631C>A | gnomAD v4 |
19 | g.41352833C>G | CA406005534 | TGFB1,TMEM91 | c.212G>C (p.Gly71Ala) c.-30+1631C>G (n.-30+1631C>G) n.350+1631C>G | |
19 | g.41352833C>T | CA406005540 | TGFB1,TMEM91 | c.212G>A (p.Gly71Asp) c.-30+1631C>T (n.-30+1631C>T) n.350+1631C>T | ClinVar gnomAD v4 |
19 | g.41352834C>A | CA406005543 | TGFB1,TMEM91 | c.211G>T (p.Gly71Cys) c.-30+1632C>A (n.-30+1632C>A) n.350+1632C>A | |
19 | g.41352834C= | CA2336426125 | TGFB1,TMEM91 | c.211G= (p.Gly71=) c.-30+1632C= (n.-30+1632C=) n.350+1632C= | |
19 | g.41352834C>G | CA406005547 | TGFB1,TMEM91 | c.211G>C (p.Gly71Arg) c.-30+1632C>G (n.-30+1632C>G) n.350+1632C>G | |
19 | g.41352834C>T | CA308518577 | TGFB1,TMEM91 | c.211G>A (p.Gly71Ser) c.-30+1632C>T (n.-30+1632C>T) n.350+1632C>T | dbSNP gnomAD v4 |
19 | g.41352835G>A | CA507690143 | TGFB1,TMEM91 | c.210C>T (p.Pro70=) c.-30+1633G>A (n.-30+1633G>A) n.350+1633G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352835G>C | CA507690145 | TGFB1,TMEM91 | c.210C>G (p.Pro70=) c.-30+1633G>C (n.-30+1633G>C) n.350+1633G>C | |
19 | g.41352835G= | CA2336426126 | TGFB1,TMEM91 | c.210C= (p.Pro70=) c.-30+1633G= (n.-30+1633G=) n.350+1633G= | |
19 | g.41352835G>T | CA507690146 | TGFB1,TMEM91 | c.210C>A (p.Pro70=) c.-30+1633G>T (n.-30+1633G>T) n.350+1633G>T | |
19 | g.41352836G>A | CA406005550 | TGFB1,TMEM91 | c.209C>T (p.Pro70Leu) c.-30+1634G>A (n.-30+1634G>A) n.350+1634G>A | dbSNP |
19 | g.41352836G>C | CA406005553 | TGFB1,TMEM91 | c.209C>G (p.Pro70Arg) c.-30+1634G>C (n.-30+1634G>C) n.350+1634G>C | |
19 | g.41352836G= | CA2336426127 | TGFB1,TMEM91 | c.209C= (p.Pro70=) c.-30+1634G= (n.-30+1634G=) n.350+1634G= | |
19 | g.41352836G>T | CA406005557 | TGFB1,TMEM91 | c.209C>A (p.Pro70His) c.-30+1634G>T (n.-30+1634G>T) n.350+1634G>T | |
19 | g.41352837G>A | CA406005561 | TGFB1,TMEM91 | c.208C>T (p.Pro70Ser) c.-30+1635G>A (n.-30+1635G>A) n.350+1635G>A | gnomAD v4 |
19 | g.41352837G>C | CA406005564 | TGFB1,TMEM91 | c.208C>G (p.Pro70Ala) c.-30+1635G>C (n.-30+1635G>C) n.350+1635G>C | |
19 | g.41352837G>T | CA406005567 | TGFB1,TMEM91 | c.208C>A (p.Pro70Thr) c.-30+1635G>T (n.-30+1635G>T) n.350+1635G>T | |
19 | g.41352838C>A | CA507690151 | TGFB1,TMEM91 | c.207G>T (p.Pro69=) c.-30+1636C>A (n.-30+1636C>A) n.350+1636C>A | gnomAD v4 |
19 | g.41352838C>G | CA507690153 | TGFB1,TMEM91 | c.207G>C (p.Pro69=) c.-30+1636C>G (n.-30+1636C>G) n.350+1636C>G | |
19 | g.41352838C>T | CA507690152 | TGFB1,TMEM91 | c.207G>A (p.Pro69=) c.-30+1636C>T (n.-30+1636C>T) n.350+1636C>T | gnomAD v4 |
19 | g.41352839G>A | CA9460162 | TGFB1,TMEM91 | c.206C>T (p.Pro69Leu) c.-30+1637G>A (n.-30+1637G>A) n.350+1637G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352839G>C | CA406005570 | TGFB1,TMEM91 | c.206C>G (p.Pro69Arg) c.-30+1637G>C (n.-30+1637G>C) n.350+1637G>C | |
19 | g.41352839G= | CA2336426128 | TGFB1,TMEM91 | c.206C= (p.Pro69=) c.-30+1637G= (n.-30+1637G=) n.350+1637G= | |
19 | g.41352839G>T | CA406005574 | TGFB1,TMEM91 | c.206C>A (p.Pro69Gln) c.-30+1637G>T (n.-30+1637G>T) n.350+1637G>T | gnomAD v4 |
19 | g.41352840G>A | CA406005581 | TGFB1,TMEM91 | c.205C>T (p.Pro69Ser) c.-30+1638G>A (n.-30+1638G>A) n.350+1638G>A | gnomAD v4 |
19 | g.41352840G>C | CA406005579 | TGFB1,TMEM91 | c.205C>G (p.Pro69Ala) c.-30+1638G>C (n.-30+1638G>C) n.350+1638G>C | |
19 | g.41352840G>T | CA406005580 | TGFB1,TMEM91 | c.205C>A (p.Pro69Thr) c.-30+1638G>T (n.-30+1638G>T) n.350+1638G>T | |
19 | g.41352841C>A | CA507690157 | TGFB1,TMEM91 | c.204G>T (p.Val68=) c.-30+1639C>A (n.-30+1639C>A) n.350+1639C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352841C= | CA2336426129 | TGFB1,TMEM91 | c.204G= (p.Val68=) c.-30+1639C= (n.-30+1639C=) n.350+1639C= | |
19 | g.41352841C>G | CA507690158 | TGFB1,TMEM91 | c.204G>C (p.Val68=) c.-30+1639C>G (n.-30+1639C>G) n.350+1639C>G | gnomAD v4 |
19 | g.41352841C>T | CA507690159 | TGFB1,TMEM91 | c.204G>A (p.Val68=) c.-30+1639C>T (n.-30+1639C>T) n.350+1639C>T | gnomAD v4 |
19 | g.41352842_41352844del | CA2585297352 | TGFB1,TMEM91 | c.202_204del (p.Val68del) c.-30+1640_-30+1642del (n.-30+1640_-30+1642del) n.350+1640_350+1642del | ClinVar gnomAD v4 |
19 | g.41352842A= | CA2336426130 | TGFB1,TMEM91 | c.203T= (p.Val68=) c.-30+1640A= (n.-30+1640A=) n.350+1640A= | |
19 | g.41352842A>C | CA308518579 | TGFB1,TMEM91 | c.203T>G (p.Val68Gly) c.-30+1640A>C (n.-30+1640A>C) n.350+1640A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352842A>G | CA406005589 | TGFB1,TMEM91 | c.203T>C (p.Val68Ala) c.-30+1640A>G (n.-30+1640A>G) n.350+1640A>G | gnomAD v4 |
19 | g.41352842A>T | CA406005593 | TGFB1,TMEM91 | c.203T>A (p.Val68Glu) c.-30+1640A>T (n.-30+1640A>T) n.350+1640A>T | |
19 | g.41352843C>A | CA406005597 | TGFB1,TMEM91 | c.202G>T (p.Val68Leu) c.-30+1641C>A (n.-30+1641C>A) n.350+1641C>A | dbSNP gnomAD v4 |
19 | g.41352843C= | CA2336426131 | TGFB1,TMEM91 | c.202G= (p.Val68=) c.-30+1641C= (n.-30+1641C=) n.350+1641C= | |
19 | g.41352843C>G | CA406005599 | TGFB1,TMEM91 | c.202G>C (p.Val68Leu) c.-30+1641C>G (n.-30+1641C>G) n.350+1641C>G | |
19 | g.41352843C>T | CA406005602 | TGFB1,TMEM91 | c.202G>A (p.Val68Met) c.-30+1641C>T (n.-30+1641C>T) n.350+1641C>T | |
19 | g.41352844C>A | CA406005606 | TGFB1,TMEM91 | c.201G>T (p.Glu67Asp) c.-30+1642C>A (n.-30+1642C>A) n.350+1642C>A | |
19 | g.41352844C= | CA2336426132 | TGFB1,TMEM91 | c.201G= (p.Glu67=) c.-30+1642C= (n.-30+1642C=) n.350+1642C= | |
19 | g.41352844C>G | CA406005608 | TGFB1,TMEM91 | c.201G>C (p.Glu67Asp) c.-30+1642C>G (n.-30+1642C>G) n.350+1642C>G | |
19 | g.41352844C>T | CA507690160 | TGFB1,TMEM91 | c.201G>A (p.Glu67=) c.-30+1642C>T (n.-30+1642C>T) n.350+1642C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352845T>A | CA406005612 | TGFB1,TMEM91 | c.200A>T (p.Glu67Val) c.-30+1643T>A (n.-30+1643T>A) n.350+1643T>A | |
19 | g.41352845T>C | CA406005615 | TGFB1,TMEM91 | c.200A>G (p.Glu67Gly) c.-30+1643T>C (n.-30+1643T>C) n.350+1643T>C | gnomAD v4 COSMIC |
19 | g.41352845T>G | CA406005619 | TGFB1,TMEM91 | c.200A>C (p.Glu67Ala) c.-30+1643T>G (n.-30+1643T>G) n.350+1643T>G | |
19 | g.41352846C>A | CA406005625 | TGFB1,TMEM91 | c.199G>T (p.Glu67Ter) c.-30+1644C>A (n.-30+1644C>A) n.350+1644C>A | |
19 | g.41352846C>G | CA406005628 | TGFB1,TMEM91 | c.199G>C (p.Glu67Gln) c.-30+1644C>G (n.-30+1644C>G) n.350+1644C>G | |
19 | g.41352846C>T | CA406005623 | TGFB1,TMEM91 | c.199G>A (p.Glu67Lys) c.-30+1644C>T (n.-30+1644C>T) n.350+1644C>T | gnomAD v4 |
19 | g.41352847C>A | CA507690161 | TGFB1,TMEM91 | c.198G>T (p.Gly66=) c.-30+1645C>A (n.-30+1645C>A) n.350+1645C>A | |
19 | g.41352847C= | CA2336426133 | TGFB1,TMEM91 | c.198G= (p.Gly66=) c.-30+1645C= (n.-30+1645C=) n.350+1645C= | |
19 | g.41352847C>G | CA507690162 | TGFB1,TMEM91 | c.198G>C (p.Gly66=) c.-30+1645C>G (n.-30+1645C>G) n.350+1645C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352847C>T | CA9460163 | TGFB1,TMEM91 | c.198G>A (p.Gly66=) c.-30+1645C>T (n.-30+1645C>T) n.350+1645C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352848C>A | CA406005634 | TGFB1,TMEM91 | c.197G>T (p.Gly66Val) c.-30+1646C>A (n.-30+1646C>A) n.350+1646C>A | |
19 | g.41352848C>G | CA406005636 | TGFB1,TMEM91 | c.197G>C (p.Gly66Ala) c.-30+1646C>G (n.-30+1646C>G) n.350+1646C>G | gnomAD v4 |
19 | g.41352848C>T | CA406005638 | TGFB1,TMEM91 | c.197G>A (p.Gly66Glu) c.-30+1646C>T (n.-30+1646C>T) n.350+1646C>T | |
19 | g.41352849C>A | CA406005644 | TGFB1,TMEM91 | c.196G>T (p.Gly66Trp) c.-30+1647C>A (n.-30+1647C>A) n.350+1647C>A | |
19 | g.41352849C>G | CA406005649 | TGFB1,TMEM91 | c.196G>C (p.Gly66Arg) c.-30+1647C>G (n.-30+1647C>G) n.350+1647C>G | |
19 | g.41352849C>T | CA406005651 | TGFB1,TMEM91 | c.196G>A (p.Gly66Arg) c.-30+1647C>T (n.-30+1647C>T) n.350+1647C>T | |
19 | g.41352850C>A | CA406005662 | TGFB1,TMEM91 | c.195G>T (p.Gln65His) c.-30+1648C>A (n.-30+1648C>A) n.350+1648C>A | gnomAD v4 |
19 | g.41352850C>G | CA406005664 | TGFB1,TMEM91 | c.195G>C (p.Gln65His) c.-30+1648C>G (n.-30+1648C>G) n.350+1648C>G | |
19 | g.41352850C>T | CA507690163 | TGFB1,TMEM91 | c.195G>A (p.Gln65=) c.-30+1648C>T (n.-30+1648C>T) n.350+1648C>T | |
19 | g.41352851T>A | CA406005667 | TGFB1,TMEM91 | c.194A>T (p.Gln65Leu) c.-30+1649T>A (n.-30+1649T>A) n.350+1649T>A | |
19 | g.41352851T>C | CA406005669 | TGFB1,TMEM91 | c.194A>G (p.Gln65Arg) c.-30+1649T>C (n.-30+1649T>C) n.350+1649T>C | gnomAD v4 |
19 | g.41352851T>G | CA406005673 | TGFB1,TMEM91 | c.194A>C (p.Gln65Pro) c.-30+1649T>G (n.-30+1649T>G) n.350+1649T>G | gnomAD v4 |
19 | g.41352852G>A | CA406005678 | TGFB1,TMEM91 | c.193C>T (p.Gln65Ter) c.-30+1650G>A (n.-30+1650G>A) n.350+1650G>A | ClinVar gnomAD v4 |
19 | g.41352852G>C | CA406005681 | TGFB1,TMEM91 | c.193C>G (p.Gln65Glu) c.-30+1650G>C (n.-30+1650G>C) n.350+1650G>C | |
19 | g.41352852G>T | CA406005677 | TGFB1,TMEM91 | c.193C>A (p.Gln65Lys) c.-30+1650G>T (n.-30+1650G>T) n.350+1650G>T | |
19 | g.41352853G>A | CA507690164 | TGFB1,TMEM91 | c.192C>T (p.Ser64=) c.-30+1651G>A (n.-30+1651G>A) n.350+1651G>A | gnomAD v4 |
19 | g.41352853G>C | CA406005685 | TGFB1,TMEM91 | c.192C>G (p.Ser64Arg) c.-30+1651G>C (n.-30+1651G>C) n.350+1651G>C | |
19 | g.41352853G>T | CA406005688 | TGFB1,TMEM91 | c.192C>A (p.Ser64Arg) c.-30+1651G>T (n.-30+1651G>T) n.350+1651G>T | |
19 | g.41352854C>A | CA406005692 | TGFB1,TMEM91 | c.191G>T (p.Ser64Ile) c.-30+1652C>A (n.-30+1652C>A) n.350+1652C>A | gnomAD v4 |
19 | g.41352854C= | CA2336426134 | TGFB1,TMEM91 | c.191G= (p.Ser64=) c.-30+1652C= (n.-30+1652C=) n.350+1652C= | |
19 | g.41352854C>G | CA9460164 | TGFB1,TMEM91 | c.191G>C (p.Ser64Thr) c.-30+1652C>G (n.-30+1652C>G) n.350+1652C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352854C>T | CA406005697 | TGFB1,TMEM91 | c.191G>A (p.Ser64Asn) c.-30+1652C>T (n.-30+1652C>T) n.350+1652C>T | |
19 | g.41352855T>A | CA406005713 | TGFB1,TMEM91 | c.190A>T (p.Ser64Cys) c.-30+1653T>A (n.-30+1653T>A) n.350+1653T>A | |
19 | g.41352855T>C | CA406005704 | TGFB1,TMEM91 | c.190A>G (p.Ser64Gly) c.-30+1653T>C (n.-30+1653T>C) n.350+1653T>C | |
19 | g.41352855T>G | CA406005701 | TGFB1,TMEM91 | c.190A>C (p.Ser64Arg) c.-30+1653T>G (n.-30+1653T>G) n.350+1653T>G | |
19 | g.41352855_41352856delinsTC | CA2336426135 | TGFB1,TMEM91 | c.189_190delinsGA (p.Pro63=) c.-30+1653_-30+1654delinsTC (n.-30+1653_-30+1654delinsTC) n.350+1653_350+1654delinsTC | |
19 | g.41352856del | CA9460165 | TGFB1,TMEM91 | c.189del (p.Ser64AlafsTer?) c.-30+1654del (n.-30+1654del) n.350+1654del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41352856C>A | CA507690165 | TGFB1,TMEM91 | c.189G>T (p.Pro63=) c.-30+1654C>A (n.-30+1654C>A) n.350+1654C>A | gnomAD v4 |
19 | g.41352856C= | CA2336426137 | TGFB1,TMEM91 | c.189G= (p.Pro63=) c.-30+1654C= (n.-30+1654C=) n.350+1654C= | |
19 | g.41352856C>G | CA308518590 | TGFB1,TMEM91 | c.189G>C (p.Pro63=) c.-30+1654C>G (n.-30+1654C>G) n.350+1654C>G | dbSNP gnomAD v4 |
19 | g.41352856C>T | CA507690166 | TGFB1,TMEM91 | c.189G>A (p.Pro63=) c.-30+1654C>T (n.-30+1654C>T) n.350+1654C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352856_41352857delinsCG | CA2336426136 | TGFB1,TMEM91 | c.188_189delinsCG (p.Pro63=) c.-30+1654_-30+1655delinsCG (n.-30+1654_-30+1655delinsCG) n.350+1654_350+1655delinsCG | |
19 | g.41352857G>A | CA406005719 | TGFB1,TMEM91 | c.188C>T (p.Pro63Leu) c.-30+1655G>A (n.-30+1655G>A) n.350+1655G>A | gnomAD v4 |
19 | g.41352857G>C | CA406005722 | TGFB1,TMEM91 | c.188C>G (p.Pro63Arg) c.-30+1655G>C (n.-30+1655G>C) n.350+1655G>C | |
19 | g.41352857G>T | CA406005725 | TGFB1,TMEM91 | c.188C>A (p.Pro63Gln) c.-30+1655G>T (n.-30+1655G>T) n.350+1655G>T | dbSNP |
19 | g.41352862dup | CA633470196 | TGFB1,TMEM91 | c.188dup (p.Ser64GlufsTer?) c.-30+1660dup (n.-30+1660dup) n.350+1660dup | gnomAD v2 gnomAD v4 |
19 | g.41352862del | CA2336426138 | TGFB1,TMEM91 | c.188del (p.Pro63ArgfsTer?) c.-30+1660del (n.-30+1660del) n.350+1660del | dbSNP gnomAD v4 |
19 | g.41352858G>A | CA406005730 | TGFB1,TMEM91 | c.187C>T (p.Pro63Ser) c.-30+1656G>A (n.-30+1656G>A) n.350+1656G>A | |
19 | g.41352858G>C | CA406005732 | TGFB1,TMEM91 | c.187C>G (p.Pro63Ala) c.-30+1656G>C (n.-30+1656G>C) n.350+1656G>C | |
19 | g.41352858G>T | CA406005735 | TGFB1,TMEM91 | c.187C>A (p.Pro63Thr) c.-30+1656G>T (n.-30+1656G>T) n.350+1656G>T | |
19 | g.41352859G>A | CA507690167 | TGFB1,TMEM91 | c.186C>T (p.Pro62=) c.-30+1657G>A (n.-30+1657G>A) n.350+1657G>A | |
19 | g.41352859G>C | CA507690168 | TGFB1,TMEM91 | c.186C>G (p.Pro62=) c.-30+1657G>C (n.-30+1657G>C) n.350+1657G>C | gnomAD v4 |
19 | g.41352859G>T | CA507690169 | TGFB1,TMEM91 | c.186C>A (p.Pro62=) c.-30+1657G>T (n.-30+1657G>T) n.350+1657G>T | |
19 | g.41352860G>A | CA406005740 | TGFB1,TMEM91 | c.185C>T (p.Pro62Leu) c.-30+1658G>A (n.-30+1658G>A) n.350+1658G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352860G>C | CA406005743 | TGFB1,TMEM91 | c.185C>G (p.Pro62Arg) c.-30+1658G>C (n.-30+1658G>C) n.350+1658G>C | |
19 | g.41352860G= | CA2336426139 | TGFB1,TMEM91 | c.185C= (p.Pro62=) c.-30+1658G= (n.-30+1658G=) n.350+1658G= | |
19 | g.41352860G>T | CA406005738 | TGFB1,TMEM91 | c.185C>A (p.Pro62His) c.-30+1658G>T (n.-30+1658G>T) n.350+1658G>T | gnomAD v4 |
19 | g.41352861G>A | CA406005746 | TGFB1,TMEM91 | c.184C>T (p.Pro62Ser) c.-30+1659G>A (n.-30+1659G>A) n.350+1659G>A | |
19 | g.41352861G>C | CA406005753 | TGFB1,TMEM91 | c.184C>G (p.Pro62Ala) c.-30+1659G>C (n.-30+1659G>C) n.350+1659G>C | |
19 | g.41352861G>T | CA406005751 | TGFB1,TMEM91 | c.184C>A (p.Pro62Thr) c.-30+1659G>T (n.-30+1659G>T) n.350+1659G>T | ClinVar |
19 | g.41352862G>A | CA507690170 | TGFB1,TMEM91 | c.183C>T (p.Ser61=) c.-30+1660G>A (n.-30+1660G>A) n.350+1660G>A | |
19 | g.41352862G>C | CA406005755 | TGFB1,TMEM91 | c.183C>G (p.Ser61Arg) c.-30+1660G>C (n.-30+1660G>C) n.350+1660G>C | |
19 | g.41352862G>T | CA406005758 | TGFB1,TMEM91 | c.183C>A (p.Ser61Arg) c.-30+1660G>T (n.-30+1660G>T) n.350+1660G>T | ClinVar dbSNP gnomAD v4 |
19 | g.41352862_41352867delinsGCTGGC | CA2336426140 | TGFB1,TMEM91 | c.178_183delinsGCCAGC (p.Ala60=) c.-30+1660_-30+1665delinsGCTGGC (n.-30+1660_-30+1665delinsGCTGGC) n.350+1660_350+1665delinsGCTGGC | |
19 | g.41352863C>A | CA406005764 | TGFB1,TMEM91 | c.182G>T (p.Ser61Ile) c.-30+1661C>A (n.-30+1661C>A) n.350+1661C>A | gnomAD v4 |
19 | g.41352863C>G | CA406005766 | TGFB1,TMEM91 | c.182G>C (p.Ser61Thr) c.-30+1661C>G (n.-30+1661C>G) n.350+1661C>G | gnomAD v4 |
19 | g.41352863C>T | CA406005775 | TGFB1,TMEM91 | c.182G>A (p.Ser61Asn) c.-30+1661C>T (n.-30+1661C>T) n.350+1661C>T | gnomAD v4 |
19 | g.41352863_41352867del | CA507690171 | TGFB1,TMEM91 | c.178_182del (p.Ala60ProfsTer?) c.-30+1661_-30+1665del (n.-30+1661_-30+1665del) n.350+1661_350+1665del | dbSNP |
19 | g.41352864T>A | CA406005778 | TGFB1,TMEM91 | c.181A>T (p.Ser61Cys) c.-30+1662T>A (n.-30+1662T>A) n.350+1662T>A | |
19 | g.41352864T>C | CA406005780 | TGFB1,TMEM91 | c.181A>G (p.Ser61Gly) c.-30+1662T>C (n.-30+1662T>C) n.350+1662T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352864T>G | CA308518599 | TGFB1,TMEM91 | c.181A>C (p.Ser61Arg) c.-30+1662T>G (n.-30+1662T>G) n.350+1662T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352864T= | CA2336426141 | TGFB1,TMEM91 | c.181A= (p.Ser61=) c.-30+1662T= (n.-30+1662T=) n.350+1662T= | |
19 | g.41352864_41352868del | CA406005787 | TGFB1,TMEM91 | c.177_181del (p.Ala60ProfsTer?) c.-30+1662_-30+1666del (n.-30+1662_-30+1666del) n.350+1662_350+1666del | |
19 | g.41352865G>A | CA507690174 | TGFB1,TMEM91 | c.180C>T (p.Ala60=) c.-30+1663G>A (n.-30+1663G>A) n.350+1663G>A | gnomAD v4 |
19 | g.41352865G>C | CA507690172 | TGFB1,TMEM91 | c.180C>G (p.Ala60=) c.-30+1663G>C (n.-30+1663G>C) n.350+1663G>C | |
19 | g.41352865G>T | CA507690173 | TGFB1,TMEM91 | c.180C>A (p.Ala60=) c.-30+1663G>T (n.-30+1663G>T) n.350+1663G>T | |
19 | g.41352866G>A | CA406005791 | TGFB1,TMEM91 | c.179C>T (p.Ala60Val) c.-30+1664G>A (n.-30+1664G>A) n.350+1664G>A | gnomAD v4 |
19 | g.41352866G>C | CA406005792 | TGFB1,TMEM91 | c.179C>G (p.Ala60Gly) c.-30+1664G>C (n.-30+1664G>C) n.350+1664G>C | ClinVar |
19 | g.41352866G>T | CA406005796 | TGFB1,TMEM91 | c.179C>A (p.Ala60Asp) c.-30+1664G>T (n.-30+1664G>T) n.350+1664G>T | gnomAD v4 |
19 | g.41352867C>A | CA406005799 | TGFB1,TMEM91 | c.178G>T (p.Ala60Ser) c.-30+1665C>A (n.-30+1665C>A) n.350+1665C>A | gnomAD v4 |
19 | g.41352867C= | CA2336426142 | TGFB1,TMEM91 | c.178G= (p.Ala60=) c.-30+1665C= (n.-30+1665C=) n.350+1665C= | |
19 | g.41352867C>G | CA9460166 | TGFB1,TMEM91 | c.178G>C (p.Ala60Pro) c.-30+1665C>G (n.-30+1665C>G) n.350+1665C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352867C>T | CA406005803 | TGFB1,TMEM91 | c.178G>A (p.Ala60Thr) c.-30+1665C>T (n.-30+1665C>T) n.350+1665C>T | gnomAD v4 |
19 | g.41352868G>A | CA507690175 | TGFB1,TMEM91 | c.177C>T (p.Leu59=) c.-30+1666G>A (n.-30+1666G>A) n.350+1666G>A | gnomAD v4 |
19 | g.41352868G>C | CA507690176 | TGFB1,TMEM91 | c.177C>G (p.Leu59=) c.-30+1666G>C (n.-30+1666G>C) n.350+1666G>C | |
19 | g.41352868G>T | CA507690177 | TGFB1,TMEM91 | c.177C>A (p.Leu59=) c.-30+1666G>T (n.-30+1666G>T) n.350+1666G>T | gnomAD v4 |
19 | g.41352869A>C | CA406005806 | TGFB1,TMEM91 | c.176T>G (p.Leu59Arg) c.-30+1667A>C (n.-30+1667A>C) n.350+1667A>C | |
19 | g.41352869A>G | CA406005808 | TGFB1,TMEM91 | c.176T>C (p.Leu59Pro) c.-30+1667A>G (n.-30+1667A>G) n.350+1667A>G | |
19 | g.41352869A>T | CA406005807 | TGFB1,TMEM91 | c.176T>A (p.Leu59His) c.-30+1667A>T (n.-30+1667A>T) n.350+1667A>T | |
19 | g.41352870G>A | CA406005811 | TGFB1,TMEM91 | c.175C>T (p.Leu59Phe) c.-30+1668G>A (n.-30+1668G>A) n.350+1668G>A | gnomAD v4 |
19 | g.41352870G>C | CA406005813 | TGFB1,TMEM91 | c.175C>G (p.Leu59Val) c.-30+1668G>C (n.-30+1668G>C) n.350+1668G>C | |
19 | g.41352870G= | CA2336426143 | TGFB1,TMEM91 | c.175C= (p.Leu59=) c.-30+1668G= (n.-30+1668G=) n.350+1668G= | |
19 | g.41352870G>T | CA308518616 | TGFB1,TMEM91 | c.175C>A (p.Leu59Ile) c.-30+1668G>T (n.-30+1668G>T) n.350+1668G>T | dbSNP |
19 | g.41352871C>A | CA507690178 | TGFB1,TMEM91 | c.174G>T (p.Arg58=) c.-30+1669C>A (n.-30+1669C>A) n.350+1669C>A | |
19 | g.41352871C>G | CA507690180 | TGFB1,TMEM91 | c.174G>C (p.Arg58=) c.-30+1669C>G (n.-30+1669C>G) n.350+1669C>G | |
19 | g.41352871C>T | CA507690179 | TGFB1,TMEM91 | c.174G>A (p.Arg58=) c.-30+1669C>T (n.-30+1669C>T) n.350+1669C>T | gnomAD v4 |
19 | g.41352872C>A | CA406005815 | TGFB1,TMEM91 | c.173G>T (p.Arg58Leu) c.-30+1670C>A (n.-30+1670C>A) n.350+1670C>A | |
19 | g.41352872C>G | CA406005818 | TGFB1,TMEM91 | c.173G>C (p.Arg58Pro) c.-30+1670C>G (n.-30+1670C>G) n.350+1670C>G | |
19 | g.41352872C>T | CA406005821 | TGFB1,TMEM91 | c.173G>A (p.Arg58Gln) c.-30+1670C>T (n.-30+1670C>T) n.350+1670C>T | gnomAD v4 |
19 | g.41352873G>A | CA406005825 | TGFB1,TMEM91 | c.172C>T (p.Arg58Trp) c.-30+1671G>A (n.-30+1671G>A) n.350+1671G>A | gnomAD v4 |
19 | g.41352873G>C | CA406005827 | TGFB1,TMEM91 | c.172C>G (p.Arg58Gly) c.-30+1671G>C (n.-30+1671G>C) n.350+1671G>C | |
19 | g.41352873G>T | CA507690181 | TGFB1,TMEM91 | c.172C>A (p.Arg58=) c.-30+1671G>T (n.-30+1671G>T) n.350+1671G>T | gnomAD v4 |
19 | g.41352874C>A | CA507690182 | TGFB1,TMEM91 | c.171G>T (p.Leu57=) c.-30+1672C>A (n.-30+1672C>A) n.350+1672C>A | dbSNP |
19 | g.41352874C= | CA2336426144 | TGFB1,TMEM91 | c.171G= (p.Leu57=) c.-30+1672C= (n.-30+1672C=) n.350+1672C= | |
19 | g.41352874C>G | CA507690183 | TGFB1,TMEM91 | c.171G>C (p.Leu57=) c.-30+1672C>G (n.-30+1672C>G) n.350+1672C>G | |
19 | g.41352874C>T | CA507690184 | TGFB1,TMEM91 | c.171G>A (p.Leu57=) c.-30+1672C>T (n.-30+1672C>T) n.350+1672C>T | gnomAD v4 |
19 | g.41352875A>C | CA406005830 | TGFB1,TMEM91 | c.170T>G (p.Leu57Arg) c.-30+1673A>C (n.-30+1673A>C) n.350+1673A>C | |
19 | g.41352875A>G | CA406005833 | TGFB1,TMEM91 | c.170T>C (p.Leu57Pro) c.-30+1673A>G (n.-30+1673A>G) n.350+1673A>G | |
19 | g.41352875A>T | CA406005836 | TGFB1,TMEM91 | c.170T>A (p.Leu57Gln) c.-30+1673A>T (n.-30+1673A>T) n.350+1673A>T | |
19 | g.41352876G>A | CA507690185 | TGFB1,TMEM91 | c.169C>T (p.Leu57=) c.-30+1674G>A (n.-30+1674G>A) n.350+1674G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352876G>C | CA406005839 | TGFB1,TMEM91 | c.169C>G (p.Leu57Val) c.-30+1674G>C (n.-30+1674G>C) n.350+1674G>C | |
19 | g.41352876G= | CA2336426145 | TGFB1,TMEM91 | c.169C= (p.Leu57=) c.-30+1674G= (n.-30+1674G=) n.350+1674G= | |
19 | g.41352876G>T | CA406005843 | TGFB1,TMEM91 | c.169C>A (p.Leu57Met) c.-30+1674G>T (n.-30+1674G>T) n.350+1674G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352877C>A | CA406005846 | TGFB1,TMEM91 | c.168G>T (p.Lys56Asn) c.-30+1675C>A (n.-30+1675C>A) n.350+1675C>A | gnomAD v4 |
19 | g.41352877C>G | CA406005848 | TGFB1,TMEM91 | c.168G>C (p.Lys56Asn) c.-30+1675C>G (n.-30+1675C>G) n.350+1675C>G | |
19 | g.41352877C>T | CA507690186 | TGFB1,TMEM91 | c.168G>A (p.Lys56=) c.-30+1675C>T (n.-30+1675C>T) n.350+1675C>T | gnomAD v4 |
19 | g.41352878T>A | CA406005851 | TGFB1,TMEM91 | c.167A>T (p.Lys56Met) c.-30+1676T>A (n.-30+1676T>A) n.350+1676T>A | |
19 | g.41352878T>C | CA406005854 | TGFB1,TMEM91 | c.167A>G (p.Lys56Arg) c.-30+1676T>C (n.-30+1676T>C) n.350+1676T>C | |
19 | g.41352878T>G | CA406005857 | TGFB1,TMEM91 | c.167A>C (p.Lys56Thr) c.-30+1676T>G (n.-30+1676T>G) n.350+1676T>G | gnomAD v4 |
19 | g.41352879T>A | CA406005860 | TGFB1,TMEM91 | c.166A>T (p.Lys56Ter) c.-30+1677T>A (n.-30+1677T>A) n.350+1677T>A | |
19 | g.41352879T>C | CA406005862 | TGFB1,TMEM91 | c.166A>G (p.Lys56Glu) c.-30+1677T>C (n.-30+1677T>C) n.350+1677T>C | |
19 | g.41352879T>G | CA406005865 | TGFB1,TMEM91 | c.166A>C (p.Lys56Gln) c.-30+1677T>G (n.-30+1677T>G) n.350+1677T>G | |
19 | g.41352880G>A | CA507690189 | TGFB1,TMEM91 | c.165C>T (p.Ser55=) c.-30+1678G>A (n.-30+1678G>A) n.350+1678G>A | gnomAD v4 |
19 | g.41352880G>C | CA507690188 | TGFB1,TMEM91 | c.165C>G (p.Ser55=) c.-30+1678G>C (n.-30+1678G>C) n.350+1678G>C | gnomAD v4 |
19 | g.41352880G>T | CA507690187 | TGFB1,TMEM91 | c.165C>A (p.Ser55=) c.-30+1678G>T (n.-30+1678G>T) n.350+1678G>T | gnomAD v4 |
19 | g.41352881G>A | CA406005869 | TGFB1,TMEM91 | c.164C>T (p.Ser55Phe) c.-30+1679G>A (n.-30+1679G>A) n.350+1679G>A | |
19 | g.41352881G>C | CA406005871 | TGFB1,TMEM91 | c.164C>G (p.Ser55Cys) c.-30+1679G>C (n.-30+1679G>C) n.350+1679G>C | gnomAD v4 |
19 | g.41352881G>T | CA406005875 | TGFB1,TMEM91 | c.164C>A (p.Ser55Tyr) c.-30+1679G>T (n.-30+1679G>T) n.350+1679G>T | gnomAD v4 |
19 | g.41352882A= | CA2336426146 | TGFB1,TMEM91 | c.163T= (p.Ser55=) c.-30+1680A= (n.-30+1680A=) n.350+1680A= | |
19 | g.41352882A>C | CA406005882 | TGFB1,TMEM91 | c.163T>G (p.Ser55Ala) c.-30+1680A>C (n.-30+1680A>C) n.350+1680A>C | |
19 | g.41352882A>G | CA308518620 | TGFB1,TMEM91 | c.163T>C (p.Ser55Pro) c.-30+1680A>G (n.-30+1680A>G) n.350+1680A>G | dbSNP |
19 | g.41352882A>T | CA406005879 | TGFB1,TMEM91 | c.163T>A (p.Ser55Thr) c.-30+1680A>T (n.-30+1680A>T) n.350+1680A>T | |
19 | g.41352883C>A | CA507690190 | TGFB1,TMEM91 | c.162G>T (p.Leu54=) c.-30+1681C>A (n.-30+1681C>A) n.350+1681C>A | |
19 | g.41352883C= | CA2336426147 | TGFB1,TMEM91 | c.162G= (p.Leu54=) c.-30+1681C= (n.-30+1681C=) n.350+1681C= | |
19 | g.41352883C>G | CA507690191 | TGFB1,TMEM91 | c.162G>C (p.Leu54=) c.-30+1681C>G (n.-30+1681C>G) n.350+1681C>G | gnomAD v4 |
19 | g.41352883C>T | CA507690192 | TGFB1,TMEM91 | c.162G>A (p.Leu54=) c.-30+1681C>T (n.-30+1681C>T) n.350+1681C>T | dbSNP gnomAD v4 |
19 | g.41352884A>C | CA406005886 | TGFB1,TMEM91 | c.161T>G (p.Leu54Arg) c.-30+1682A>C (n.-30+1682A>C) n.350+1682A>C | |
19 | g.41352884A>G | CA406005888 | TGFB1,TMEM91 | c.161T>C (p.Leu54Pro) c.-30+1682A>G (n.-30+1682A>G) n.350+1682A>G | gnomAD v4 |
19 | g.41352884A>T | CA406005891 | TGFB1,TMEM91 | c.161T>A (p.Leu54Gln) c.-30+1682A>T (n.-30+1682A>T) n.350+1682A>T | |
19 | g.41352885G>A | CA507690193 | TGFB1,TMEM91 | c.160C>T (p.Leu54=) c.-30+1683G>A (n.-30+1683G>A) n.350+1683G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352885G>C | CA406005895 | TGFB1,TMEM91 | c.160C>G (p.Leu54Val) c.-30+1683G>C (n.-30+1683G>C) n.350+1683G>C | |
19 | g.41352885G= | CA2336426148 | TGFB1,TMEM91 | c.160C= (p.Leu54=) c.-30+1683G= (n.-30+1683G=) n.350+1683G= | |
19 | g.41352885G>T | CA406005898 | TGFB1,TMEM91 | c.160C>A (p.Leu54Met) c.-30+1683G>T (n.-30+1683G>T) n.350+1683G>T | gnomAD v4 |
19 | g.41352886G>A | CA9460167 | TGFB1,TMEM91 | c.159C>T (p.Ile53=) c.-30+1684G>A (n.-30+1684G>A) n.350+1684G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.41352886G>C | CA406005900 | TGFB1,TMEM91 | c.159C>G (p.Ile53Met) c.-30+1684G>C (n.-30+1684G>C) n.350+1684G>C | |
19 | g.41352886G= | CA2336426149 | TGFB1,TMEM91 | c.159C= (p.Ile53=) c.-30+1684G= (n.-30+1684G=) n.350+1684G= | |
19 | g.41352886G>T | CA507690194 | TGFB1,TMEM91 | c.159C>A (p.Ile53=) c.-30+1684G>T (n.-30+1684G>T) n.350+1684G>T | gnomAD v4 |
19 | g.41352887A= | CA2336426150 | TGFB1,TMEM91 | c.158T= (p.Ile53=) c.-30+1685A= (n.-30+1685A=) n.350+1685A= | |
19 | g.41352887A>C | CA406005901 | TGFB1,TMEM91 | c.158T>G (p.Ile53Ser) c.-30+1685A>C (n.-30+1685A>C) n.350+1685A>C | gnomAD v4 |
19 | g.41352887A>G | CA9460168 | TGFB1,TMEM91 | c.158T>C (p.Ile53Thr) c.-30+1685A>G (n.-30+1685A>G) n.350+1685A>G | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41352887A>T | CA406005904 | TGFB1,TMEM91 | c.158T>A (p.Ile53Asn) c.-30+1685A>T (n.-30+1685A>T) n.350+1685A>T | |
19 | g.41352888T>A | CA406005908 | TGFB1,TMEM91 | c.157A>T (p.Ile53Phe) c.-30+1686T>A (n.-30+1686T>A) n.350+1686T>A | |
19 | g.41352888T>C | CA406005910 | TGFB1,TMEM91 | c.157A>G (p.Ile53Val) c.-30+1686T>C (n.-30+1686T>C) n.350+1686T>C | |
19 | g.41352888T>G | CA406005911 | TGFB1,TMEM91 | c.157A>C (p.Ile53Leu) c.-30+1686T>G (n.-30+1686T>G) n.350+1686T>G | |
19 | g.41352889C>A | CA406005913 | TGFB1,TMEM91 | c.156G>T (p.Gln52His) c.-30+1687C>A (n.-30+1687C>A) n.350+1687C>A | gnomAD v4 |
19 | g.41352889C>G | CA406005912 | TGFB1,TMEM91 | c.156G>C (p.Gln52His) c.-30+1687C>G (n.-30+1687C>G) n.350+1687C>G | |
19 | g.41352889C>T | CA507690195 | TGFB1,TMEM91 | c.156G>A (p.Gln52=) c.-30+1687C>T (n.-30+1687C>T) n.350+1687C>T | |
19 | g.41352890T>A | CA406005914 | TGFB1,TMEM91 | c.155A>T (p.Gln52Leu) c.-30+1688T>A (n.-30+1688T>A) n.350+1688T>A | |
19 | g.41352890T>C | CA406005921 | TGFB1,TMEM91 | c.155A>G (p.Gln52Arg) c.-30+1688T>C (n.-30+1688T>C) n.350+1688T>C | gnomAD v4 |
19 | g.41352890T>G | CA406005918 | TGFB1,TMEM91 | c.155A>C (p.Gln52Pro) c.-30+1688T>G (n.-30+1688T>G) n.350+1688T>G | |
19 | g.41352891G>A | CA406005923 | TGFB1,TMEM91 | c.154C>T (p.Gln52Ter) c.-30+1689G>A (n.-30+1689G>A) n.350+1689G>A | dbSNP gnomAD v2 |
19 | g.41352891G>C | CA406005926 | TGFB1,TMEM91 | c.154C>G (p.Gln52Glu) c.-30+1689G>C (n.-30+1689G>C) n.350+1689G>C | |
19 | g.41352891G= | CA2336426151 | TGFB1,TMEM91 | c.154C= (p.Gln52=) c.-30+1689G= (n.-30+1689G=) n.350+1689G= | |
19 | g.41352891G>T | CA406005928 | TGFB1,TMEM91 | c.154C>A (p.Gln52Lys) c.-30+1689G>T (n.-30+1689G>T) n.350+1689G>T | |
19 | g.41352892G>A | CA507690196 | TGFB1,TMEM91 | c.153C>T (p.Gly51=) c.-30+1690G>A (n.-30+1690G>A) n.350+1690G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352892G>C | CA507690197 | TGFB1,TMEM91 | c.153C>G (p.Gly51=) c.-30+1690G>C (n.-30+1690G>C) n.350+1690G>C | |
19 | g.41352892G= | CA2336426152 | TGFB1,TMEM91 | c.153C= (p.Gly51=) c.-30+1690G= (n.-30+1690G=) n.350+1690G= | |
19 | g.41352892G>T | CA507690198 | TGFB1,TMEM91 | c.153C>A (p.Gly51=) c.-30+1690G>T (n.-30+1690G>T) n.350+1690G>T | gnomAD v4 |
19 | g.41352893C>A | CA406005929 | TGFB1,TMEM91 | c.152G>T (p.Gly51Val) c.-30+1691C>A (n.-30+1691C>A) n.350+1691C>A | gnomAD v4 |
19 | g.41352893C>G | CA406005930 | TGFB1,TMEM91 | c.152G>C (p.Gly51Ala) c.-30+1691C>G (n.-30+1691C>G) n.350+1691C>G | |
19 | g.41352893C>T | CA406005931 | TGFB1,TMEM91 | c.152G>A (p.Gly51Asp) c.-30+1691C>T (n.-30+1691C>T) n.350+1691C>T | gnomAD v4 |
19 | g.41352894C>A | CA406005934 | TGFB1,TMEM91 | c.151G>T (p.Gly51Cys) c.-30+1692C>A (n.-30+1692C>A) n.350+1692C>A | |
19 | g.41352894C>G | CA406005939 | TGFB1,TMEM91 | c.151G>C (p.Gly51Arg) c.-30+1692C>G (n.-30+1692C>G) n.350+1692C>G | ClinVar |
19 | g.41352894C>T | CA406005941 | TGFB1,TMEM91 | c.151G>A (p.Gly51Ser) c.-30+1692C>T (n.-30+1692C>T) n.350+1692C>T | |
19 | g.41352895G>A | CA507690199 | TGFB1,TMEM91 | c.150C>T (p.Arg50=) c.-30+1693G>A (n.-30+1693G>A) n.350+1693G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352895G>C | CA507690200 | TGFB1,TMEM91 | c.150C>G (p.Arg50=) c.-30+1693G>C (n.-30+1693G>C) n.350+1693G>C | |
19 | g.41352895G= | CA2336426153 | TGFB1,TMEM91 | c.150C= (p.Arg50=) c.-30+1693G= (n.-30+1693G=) n.350+1693G= | |
19 | g.41352895G>T | CA507690201 | TGFB1,TMEM91 | c.150C>A (p.Arg50=) c.-30+1693G>T (n.-30+1693G>T) n.350+1693G>T | gnomAD v4 |
19 | g.41352896C>A | CA406005945 | TGFB1,TMEM91 | c.149G>T (p.Arg50Leu) c.-30+1694C>A (n.-30+1694C>A) n.350+1694C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352896C>G | CA406005949 | TGFB1,TMEM91 | c.149G>C (p.Arg50Pro) c.-30+1694C>G (n.-30+1694C>G) n.350+1694C>G | gnomAD v4 |
19 | g.41352896C>T | CA406005953 | TGFB1,TMEM91 | c.149G>A (p.Arg50His) c.-30+1694C>T (n.-30+1694C>T) n.350+1694C>T | gnomAD v4 |
19 | g.41352897G>A | CA406005957 | TGFB1,TMEM91 | c.148C>T (p.Arg50Cys) c.-30+1695G>A (n.-30+1695G>A) n.350+1695G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352897G>C | CA406005962 | TGFB1,TMEM91 | c.148C>G (p.Arg50Gly) c.-30+1695G>C (n.-30+1695G>C) n.350+1695G>C | |
19 | g.41352897G= | CA2336426154 | TGFB1,TMEM91 | c.148C= (p.Arg50=) c.-30+1695G= (n.-30+1695G=) n.350+1695G= | |
19 | g.41352897G>T | CA406005960 | TGFB1,TMEM91 | c.148C>A (p.Arg50Ser) c.-30+1695G>T (n.-30+1695G>T) n.350+1695G>T | gnomAD v4 |
19 | g.41352898G>A | CA507690202 | TGFB1,TMEM91 | c.147C>T (p.Ile49=) c.-30+1696G>A (n.-30+1696G>A) n.350+1696G>A | |
19 | g.41352898G>C | CA406005965 | TGFB1,TMEM91 | c.147C>G (p.Ile49Met) c.-30+1696G>C (n.-30+1696G>C) n.350+1696G>C | |
19 | g.41352898G>T | CA507690203 | TGFB1,TMEM91 | c.147C>A (p.Ile49=) c.-30+1696G>T (n.-30+1696G>T) n.350+1696G>T | gnomAD v4 |
19 | g.41352899A= | CA2336426155 | TGFB1,TMEM91 | c.146T= (p.Ile49=) c.-30+1697A= (n.-30+1697A=) n.350+1697A= | |
19 | g.41352899A>C | CA406005970 | TGFB1,TMEM91 | c.146T>G (p.Ile49Ser) c.-30+1697A>C (n.-30+1697A>C) n.350+1697A>C | ClinVar dbSNP gnomAD v4 |
19 | g.41352899A>G | CA406005973 | TGFB1,TMEM91 | c.146T>C (p.Ile49Thr) c.-30+1697A>G (n.-30+1697A>G) n.350+1697A>G | gnomAD v4 |
19 | g.41352899A>T | CA406005977 | TGFB1,TMEM91 | c.146T>A (p.Ile49Asn) c.-30+1697A>T (n.-30+1697A>T) n.350+1697A>T | |
19 | g.41352900T>A | CA406005981 | TGFB1,TMEM91 | c.145A>T (p.Ile49Phe) c.-30+1698T>A (n.-30+1698T>A) n.350+1698T>A | gnomAD v4 |
19 | g.41352900T>C | CA406005983 | TGFB1,TMEM91 | c.145A>G (p.Ile49Val) c.-30+1698T>C (n.-30+1698T>C) n.350+1698T>C | gnomAD v4 |
19 | g.41352900T>G | CA406005987 | TGFB1,TMEM91 | c.145A>C (p.Ile49Leu) c.-30+1698T>G (n.-30+1698T>G) n.350+1698T>G | |
19 | g.41352901G>A | CA507690206 | TGFB1,TMEM91 | c.144C>T (p.Ala48=) c.-30+1699G>A (n.-30+1699G>A) n.350+1699G>A | gnomAD v4 |
19 | g.41352901G>C | CA507690205 | TGFB1,TMEM91 | c.144C>G (p.Ala48=) c.-30+1699G>C (n.-30+1699G>C) n.350+1699G>C | gnomAD v4 |
19 | g.41352901G>T | CA507690204 | TGFB1,TMEM91 | c.144C>A (p.Ala48=) c.-30+1699G>T (n.-30+1699G>T) n.350+1699G>T | |
19 | g.41352902G>A | CA406005991 | TGFB1,TMEM91 | c.143C>T (p.Ala48Val) c.-30+1700G>A (n.-30+1700G>A) n.350+1700G>A | gnomAD v4 |
19 | g.41352902G>C | CA9460169 | TGFB1,TMEM91 | c.143C>G (p.Ala48Gly) c.-30+1700G>C (n.-30+1700G>C) n.350+1700G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352902G= | CA2336426156 | TGFB1,TMEM91 | c.143C= (p.Ala48=) c.-30+1700G= (n.-30+1700G=) n.350+1700G= | |
19 | g.41352902G>T | CA406005996 | TGFB1,TMEM91 | c.143C>A (p.Ala48Asp) c.-30+1700G>T (n.-30+1700G>T) n.350+1700G>T | gnomAD v4 |
19 | g.41352903C>A | CA406006002 | TGFB1,TMEM91 | c.142G>T (p.Ala48Ser) c.-30+1701C>A (n.-30+1701C>A) n.350+1701C>A | gnomAD v4 |
19 | g.41352903C>G | CA406006006 | TGFB1,TMEM91 | c.142G>C (p.Ala48Pro) c.-30+1701C>G (n.-30+1701C>G) n.350+1701C>G | |
19 | g.41352903C>T | CA406006000 | TGFB1,TMEM91 | c.142G>A (p.Ala48Thr) c.-30+1701C>T (n.-30+1701C>T) n.350+1701C>T | gnomAD v4 |
19 | g.41352904C>A | CA406006009 | TGFB1,TMEM91 | c.141G>T (p.Glu47Asp) c.-30+1702C>A (n.-30+1702C>A) n.350+1702C>A | |
19 | g.41352904C>G | CA406006013 | TGFB1,TMEM91 | c.141G>C (p.Glu47Asp) c.-30+1702C>G (n.-30+1702C>G) n.350+1702C>G | gnomAD v4 |
19 | g.41352904C>T | CA507690207 | TGFB1,TMEM91 | c.141G>A (p.Glu47=) c.-30+1702C>T (n.-30+1702C>T) n.350+1702C>T | |
19 | g.41352905T>A | CA406006018 | TGFB1,TMEM91 | c.140A>T (p.Glu47Val) c.-30+1703T>A (n.-30+1703T>A) n.350+1703T>A | gnomAD v4 |
19 | g.41352905T>C | CA308518638 | TGFB1,TMEM91 | c.140A>G (p.Glu47Gly) c.-30+1703T>C (n.-30+1703T>C) n.350+1703T>C | dbSNP |
19 | g.41352905T>G | CA406006023 | TGFB1,TMEM91 | c.140A>C (p.Glu47Ala) c.-30+1703T>G (n.-30+1703T>G) n.350+1703T>G | |
19 | g.41352905T= | CA2336426157 | TGFB1,TMEM91 | c.140A= (p.Glu47=) c.-30+1703T= (n.-30+1703T=) n.350+1703T= | |
19 | g.41352906C>A | CA406006024 | TGFB1,TMEM91 | c.139G>T (p.Glu47Ter) c.-30+1704C>A (n.-30+1704C>A) n.350+1704C>A | gnomAD v4 |
19 | g.41352906C= | CA2336426158 | TGFB1,TMEM91 | c.139G= (p.Glu47=) c.-30+1704C= (n.-30+1704C=) n.350+1704C= | |
19 | g.41352906C>G | CA406006027 | TGFB1,TMEM91 | c.139G>C (p.Glu47Gln) c.-30+1704C>G (n.-30+1704C>G) n.350+1704C>G | |
19 | g.41352906C>T | CA406006030 | TGFB1,TMEM91 | c.139G>A (p.Glu47Lys) c.-30+1704C>T (n.-30+1704C>T) n.350+1704C>T | dbSNP gnomAD v4 |
19 | g.41352907G>A | CA507690209 | TGFB1,TMEM91 | c.138C>T (p.Ile46=) c.-30+1705G>A (n.-30+1705G>A) n.350+1705G>A | gnomAD v4 |
19 | g.41352907G>C | CA406006031 | TGFB1,TMEM91 | c.138C>G (p.Ile46Met) c.-30+1705G>C (n.-30+1705G>C) n.350+1705G>C | |
19 | g.41352907G>T | CA507690210 | TGFB1,TMEM91 | c.138C>A (p.Ile46=) c.-30+1705G>T (n.-30+1705G>T) n.350+1705G>T | gnomAD v4 |
19 | g.41352908A>C | CA406006032 | TGFB1,TMEM91 | c.137T>G (p.Ile46Ser) c.-30+1706A>C (n.-30+1706A>C) n.350+1706A>C | |
19 | g.41352908A>G | CA406006033 | TGFB1,TMEM91 | c.137T>C (p.Ile46Thr) c.-30+1706A>G (n.-30+1706A>G) n.350+1706A>G | |
19 | g.41352908A>T | CA406006035 | TGFB1,TMEM91 | c.137T>A (p.Ile46Asn) c.-30+1706A>T (n.-30+1706A>T) n.350+1706A>T | |
19 | g.41352909T>A | CA406006047 | TGFB1,TMEM91 | c.136A>T (p.Ile46Phe) c.-30+1707T>A (n.-30+1707T>A) n.350+1707T>A | |
19 | g.41352909T>C | CA406006049 | TGFB1,TMEM91 | c.136A>G (p.Ile46Val) c.-30+1707T>C (n.-30+1707T>C) n.350+1707T>C | |
19 | g.41352909T>G | CA406006046 | TGFB1,TMEM91 | c.136A>C (p.Ile46Leu) c.-30+1707T>G (n.-30+1707T>G) n.350+1707T>G | |
19 | g.41352910G>A | CA507690212 | TGFB1,TMEM91 | c.135C>T (p.Arg45=) c.-30+1708G>A (n.-30+1708G>A) n.350+1708G>A | gnomAD v4 |
19 | g.41352910G>C | CA507690213 | TGFB1,TMEM91 | c.135C>G (p.Arg45=) c.-30+1708G>C (n.-30+1708G>C) n.350+1708G>C | |
19 | g.41352910G>T | CA507690214 | TGFB1,TMEM91 | c.135C>A (p.Arg45=) c.-30+1708G>T (n.-30+1708G>T) n.350+1708G>T | gnomAD v4 |
19 | g.41352911C>A | CA406006052 | TGFB1,TMEM91 | c.134G>T (p.Arg45Leu) c.-30+1709C>A (n.-30+1709C>A) n.350+1709C>A | gnomAD v4 |
19 | g.41352911C= | CA2336426159 | TGFB1,TMEM91 | c.134G= (p.Arg45=) c.-30+1709C= (n.-30+1709C=) n.350+1709C= | |
19 | g.41352911C>G | CA406006055 | TGFB1,TMEM91 | c.134G>C (p.Arg45Pro) c.-30+1709C>G (n.-30+1709C>G) n.350+1709C>G | |
19 | g.41352911C>T | CA406006057 | TGFB1,TMEM91 | c.134G>A (p.Arg45His) c.-30+1709C>T (n.-30+1709C>T) n.350+1709C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352912G>A | CA406006064 | TGFB1,TMEM91 | c.133C>T (p.Arg45Cys) c.-30+1710G>A (n.-30+1710G>A) n.350+1710G>A | ClinVar dbSNP gnomAD v4 |
19 | g.41352912G>C | CA406006066 | TGFB1,TMEM91 | c.133C>G (p.Arg45Gly) c.-30+1710G>C (n.-30+1710G>C) n.350+1710G>C | |
19 | g.41352912G= | CA2336426160 | TGFB1,TMEM91 | c.133C= (p.Arg45=) c.-30+1710G= (n.-30+1710G=) n.350+1710G= | |
19 | g.41352912G>T | CA406006070 | TGFB1,TMEM91 | c.133C>A (p.Arg45Ser) c.-30+1710G>T (n.-30+1710G>T) n.350+1710G>T | gnomAD v4 |
19 | g.41352913C>A | CA406006074 | TGFB1,TMEM91 | c.132G>T (p.Lys44Asn) c.-30+1711C>A (n.-30+1711C>A) n.350+1711C>A | gnomAD v4 |
19 | g.41352913C>G | CA406006072 | TGFB1,TMEM91 | c.132G>C (p.Lys44Asn) c.-30+1711C>G (n.-30+1711C>G) n.350+1711C>G | |
19 | g.41352913C>T | CA507690217 | TGFB1,TMEM91 | c.132G>A (p.Lys44=) c.-30+1711C>T (n.-30+1711C>T) n.350+1711C>T | gnomAD v4 |
19 | g.41352914T>A | CA406006077 | TGFB1,TMEM91 | c.131A>T (p.Lys44Met) c.-30+1712T>A (n.-30+1712T>A) n.350+1712T>A | |
19 | g.41352914T>C | CA406006080 | TGFB1,TMEM91 | c.131A>G (p.Lys44Arg) c.-30+1712T>C (n.-30+1712T>C) n.350+1712T>C | |
19 | g.41352914T>G | CA406006081 | TGFB1,TMEM91 | c.131A>C (p.Lys44Thr) c.-30+1712T>G (n.-30+1712T>G) n.350+1712T>G | |
19 | g.41352915T>A | CA406006084 | TGFB1,TMEM91 | c.130A>T (p.Lys44Ter) c.-30+1713T>A (n.-30+1713T>A) n.350+1713T>A | |
19 | g.41352915T>C | CA406006086 | TGFB1,TMEM91 | c.130A>G (p.Lys44Glu) c.-30+1713T>C (n.-30+1713T>C) n.350+1713T>C | gnomAD v4 |
19 | g.41352915T>G | CA9460170 | TGFB1,TMEM91 | c.130A>C (p.Lys44Gln) c.-30+1713T>G (n.-30+1713T>G) n.350+1713T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41352915T= | CA2336426161 | TGFB1,TMEM91 | c.130A= (p.Lys44=) c.-30+1713T= (n.-30+1713T=) n.350+1713T= | |
19 | g.41352916C>A | CA507690221 | TGFB1,TMEM91 | c.129G>T (p.Arg43=) c.-30+1714C>A (n.-30+1714C>A) n.350+1714C>A | gnomAD v4 |
19 | g.41352916C= | CA2336426162 | TGFB1,TMEM91 | c.129G= (p.Arg43=) c.-30+1714C= (n.-30+1714C=) n.350+1714C= | |
19 | g.41352916C>G | CA507690222 | TGFB1,TMEM91 | c.129G>C (p.Arg43=) c.-30+1714C>G (n.-30+1714C>G) n.350+1714C>G | gnomAD v4 |
19 | g.41352916C>T | CA507690223 | TGFB1,TMEM91 | c.129G>A (p.Arg43=) c.-30+1714C>T (n.-30+1714C>T) n.350+1714C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41352917C>A | CA406006090 | TGFB1,TMEM91 | c.128G>T (p.Arg43Leu) c.-30+1715C>A (n.-30+1715C>A) n.350+1715C>A | gnomAD v4 |
19 | g.41352917C= | CA2336426163 | TGFB1,TMEM91 | c.128G= (p.Arg43=) c.-30+1715C= (n.-30+1715C=) n.350+1715C= | |
19 | g.41352917C>G | CA406006094 | TGFB1,TMEM91 | c.128G>C (p.Arg43Pro) c.-30+1715C>G (n.-30+1715C>G) n.350+1715C>G | |
19 | g.41352917C>T | CA406006092 | TGFB1,TMEM91 | c.128G>A (p.Arg43Gln) c.-30+1715C>T (n.-30+1715C>T) n.350+1715C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41352918G>A | CA406006099 | TGFB1,TMEM91 | c.127C>T (p.Arg43Trp) c.-30+1716G>A (n.-30+1716G>A) n.350+1716G>A | gnomAD v4 |
19 | g.41352918G>C | CA406006102 | TGFB1,TMEM91 | c.127C>G (p.Arg43Gly) c.-30+1716G>C (n.-30+1716G>C) n.350+1716G>C | |
19 | g.41352918G>T | CA507690224 | TGFB1,TMEM91 | c.127C>A (p.Arg43=) c.-30+1716G>T (n.-30+1716G>T) n.350+1716G>T | gnomAD v4 |
19 | g.41352919C>A | CA406006105 | TGFB1,TMEM91 | c.126G>T (p.Lys42Asn) c.-30+1717C>A (n.-30+1717C>A) n.350+1717C>A | gnomAD v4 |
19 | g.41352919C>G | CA406006109 | TGFB1,TMEM91 | c.126G>C (p.Lys42Asn) c.-30+1717C>G (n.-30+1717C>G) n.350+1717C>G | |
19 | g.41352919C>T | CA507690225 | TGFB1,TMEM91 | c.126G>A (p.Lys42=) c.-30+1717C>T (n.-30+1717C>T) n.350+1717C>T | gnomAD v4 |
19 | g.41352920T>A | CA406006113 | TGFB1,TMEM91 | c.125A>T (p.Lys42Met) c.-30+1718T>A (n.-30+1718T>A) n.350+1718T>A | gnomAD v4 |
19 | g.41352920T>C | CA406006115 | TGFB1,TMEM91 | c.125A>G (p.Lys42Arg) c.-30+1718T>C (n.-30+1718T>C) n.350+1718T>C | gnomAD v4 |
19 | g.41352920T>G | CA406006117 | TGFB1,TMEM91 | c.125A>C (p.Lys42Thr) c.-30+1718T>G (n.-30+1718T>G) n.350+1718T>G | |
19 | g.41352921T>A | CA406006120 | TGFB1,TMEM91 | c.124A>T (p.Lys42Ter) c.-30+1719T>A (n.-30+1719T>A) n.350+1719T>A | |
19 | g.41352921T>C | CA406006122 | TGFB1,TMEM91 | c.124A>G (p.Lys42Glu) c.-30+1719T>C (n.-30+1719T>C) n.350+1719T>C | |
19 | g.41352921T>G | CA406006126 | TGFB1,TMEM91 | c.124A>C (p.Lys42Gln) c.-30+1719T>G (n.-30+1719T>G) n.350+1719T>G | |
19 | g.41352922C>A | CA507690229 | TGFB1,TMEM91 | c.123G>T (p.Val41=) c.-30+1720C>A (n.-30+1720C>A) n.350+1720C>A | gnomAD v4 |
19 | g.41352922C>G | CA507690231 | TGFB1,TMEM91 | c.123G>C (p.Val41=) c.-30+1720C>G (n.-30+1720C>G) n.350+1720C>G | |
19 | g.41352922C>T | CA507690230 | TGFB1,TMEM91 | c.123G>A (p.Val41=) c.-30+1720C>T (n.-30+1720C>T) n.350+1720C>T | gnomAD v4 |
19 | g.41352923A= | CA2336426164 | TGFB1,TMEM91 | c.122T= (p.Val41=) c.-30+1721A= (n.-30+1721A=) n.350+1721A= | |
19 | g.41352923A>C | CA406006131 | TGFB1,TMEM91 | c.122T>G (p.Val41Gly) c.-30+1721A>C (n.-30+1721A>C) n.350+1721A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352923A>G | CA308518648 | TGFB1,TMEM91 | c.122T>C (p.Val41Ala) c.-30+1721A>G (n.-30+1721A>G) n.350+1721A>G | dbSNP gnomAD v4 |
19 | g.41352923A>T | CA406006137 | TGFB1,TMEM91 | c.122T>A (p.Val41Glu) c.-30+1721A>T (n.-30+1721A>T) n.350+1721A>T | |
19 | g.41352924C>A | CA406006144 | TGFB1,TMEM91 | c.121G>T (p.Val41Leu) c.-30+1722C>A (n.-30+1722C>A) n.350+1722C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352924C= | CA2336426165 | TGFB1,TMEM91 | c.121G= (p.Val41=) c.-30+1722C= (n.-30+1722C=) n.350+1722C= | |
19 | g.41352924C>G | CA406006147 | TGFB1,TMEM91 | c.121G>C (p.Val41Leu) c.-30+1722C>G (n.-30+1722C>G) n.350+1722C>G | gnomAD v4 |
19 | g.41352924C>T | CA406006149 | TGFB1,TMEM91 | c.121G>A (p.Val41Met) c.-30+1722C>T (n.-30+1722C>T) n.350+1722C>T | dbSNP gnomAD v4 |
19 | g.41352925C>A | CA507690233 | TGFB1,TMEM91 | c.120G>T (p.Leu40=) c.-30+1723C>A (n.-30+1723C>A) n.350+1723C>A | gnomAD v4 |
19 | g.41352925C= | CA2336426166 | TGFB1,TMEM91 | c.120G= (p.Leu40=) c.-30+1723C= (n.-30+1723C=) n.350+1723C= | |
19 | g.41352925C>G | CA507690234 | TGFB1,TMEM91 | c.120G>C (p.Leu40=) c.-30+1723C>G (n.-30+1723C>G) n.350+1723C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352925C>T | CA507690235 | TGFB1,TMEM91 | c.120G>A (p.Leu40=) c.-30+1723C>T (n.-30+1723C>T) n.350+1723C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352926A>C | CA406006153 | TGFB1,TMEM91 | c.119T>G (p.Leu40Arg) c.-30+1724A>C (n.-30+1724A>C) n.350+1724A>C | gnomAD v4 |
19 | g.41352926A>G | CA406006158 | TGFB1,TMEM91 | c.119T>C (p.Leu40Pro) c.-30+1724A>G (n.-30+1724A>G) n.350+1724A>G | gnomAD v4 |
19 | g.41352926A>T | CA406006156 | TGFB1,TMEM91 | c.119T>A (p.Leu40Gln) c.-30+1724A>T (n.-30+1724A>T) n.350+1724A>T | gnomAD v4 |
19 | g.41352927G>A | CA507690236 | TGFB1,TMEM91 | c.118C>T (p.Leu40=) c.-30+1725G>A (n.-30+1725G>A) n.350+1725G>A | gnomAD v4 |
19 | g.41352927G>C | CA406006160 | TGFB1,TMEM91 | c.118C>G (p.Leu40Val) c.-30+1725G>C (n.-30+1725G>C) n.350+1725G>C | gnomAD v4 |
19 | g.41352927G>T | CA406006163 | TGFB1,TMEM91 | c.118C>A (p.Leu40Met) c.-30+1725G>T (n.-30+1725G>T) n.350+1725G>T | gnomAD v4 |
19 | g.41352928C>A | CA406006165 | TGFB1,TMEM91 | c.117G>T (p.Glu39Asp) c.-30+1726C>A (n.-30+1726C>A) n.350+1726C>A | gnomAD v4 |
19 | g.41352928C= | CA2336426167 | TGFB1,TMEM91 | c.117G= (p.Glu39=) c.-30+1726C= (n.-30+1726C=) n.350+1726C= | |
19 | g.41352928C>G | CA406006167 | TGFB1,TMEM91 | c.117G>C (p.Glu39Asp) c.-30+1726C>G (n.-30+1726C>G) n.350+1726C>G | |
19 | g.41352928C>T | CA507690240 | TGFB1,TMEM91 | c.117G>A (p.Glu39=) c.-30+1726C>T (n.-30+1726C>T) n.350+1726C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352929T>A | CA406006170 | TGFB1,TMEM91 | c.116A>T (p.Glu39Val) c.-30+1727T>A (n.-30+1727T>A) n.350+1727T>A | |
19 | g.41352929T>C | CA406006171 | TGFB1,TMEM91 | c.116A>G (p.Glu39Gly) c.-30+1727T>C (n.-30+1727T>C) n.350+1727T>C | gnomAD v4 |
19 | g.41352929T>G | CA406006172 | TGFB1,TMEM91 | c.116A>C (p.Glu39Ala) c.-30+1727T>G (n.-30+1727T>G) n.350+1727T>G | ClinVar |