| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.69087897del | CA2614769362 | TPCN2 | c.1060del (p.Glu354ArgfsTer8) c.2203del (p.Glu735ArgfsTer8) c.*398del (n.*398del) c.2003+1967del (n.2003+1967del) c.*33+2611del (n.*33+2611del) n.1669del c.1657del (p.Glu553ArgfsTer8) c.2200del (p.Glu734ArgfsTer8) c.1948del (p.Glu650ArgfsTer8) c.1510del (p.Glu504ArgfsTer8) c.1480del (p.Glu494ArgfsTer8) c.1639+6398del (n.1639+6398del) c.1689+6398del (n.1689+6398del) c.1963del (p.Glu655ArgfsTer8) c.1507del (p.Glu503ArgfsTer8) c.1372del (p.Glu458ArgfsTer8) n.2254del c.1984del (p.Glu662ArgfsTer8) c.1981del (p.Glu661ArgfsTer8) c.1294del (p.Glu432ArgfsTer8) c.1261del (p.Glu421ArgfsTer8) c.1153del (p.Glu385ArgfsTer8) c.1993del (p.Glu665ArgfsTer8) n.2135del n.2257del | gnomAD v4 |
| 11 | g.69087895_69087897del | CA2574905825 | TPCN2 | c.1058_1060del (p.Gly353del) c.2201_2203del (p.Gly734del) c.*396_*398del (n.*396_*398del) c.2003+1965_2003+1967del (n.2003+1965_2003+1967del) c.*33+2609_*33+2611del (n.*33+2609_*33+2611del) n.1667_1669del c.1655_1657del (p.Gly552del) c.2198_2200del (p.Gly733del) c.1946_1948del (p.Gly649del) c.1508_1510del (p.Gly503del) c.1478_1480del (p.Gly493del) c.1639+6396_1639+6398del (n.1639+6396_1639+6398del) c.1689+6396_1689+6398del (n.1689+6396_1689+6398del) c.1961_1963del (p.Gly654del) c.1505_1507del (p.Gly502del) c.1370_1372del (p.Gly457del) n.2252_2254del c.1982_1984del (p.Gly661del) c.1979_1981del (p.Gly660del) c.1292_1294del (p.Gly431del) c.1259_1261del (p.Gly420del) c.1151_1153del (p.Gly384del) c.1991_1993del (p.Gly664del) n.2133_2135del n.2255_2257del | gnomAD v4 |
| 11 | g.69087895G>A | CA114459 | TPCN2 | c.1058G>A (p.Gly353Glu) c.2201G>A (p.Gly734Glu) c.*396G>A (n.*396G>A) c.2003+1965G>A (n.2003+1965G>A) c.*33+2609G>A (n.*33+2609G>A) n.1667G>A c.1655G>A (p.Gly552Glu) c.2198G>A (p.Gly733Glu) c.1946G>A (p.Gly649Glu) c.1508G>A (p.Gly503Glu) c.1478G>A (p.Gly493Glu) c.1639+6396G>A (n.1639+6396G>A) c.1689+6396G>A (n.1689+6396G>A) c.1961G>A (p.Gly654Glu) c.1505G>A (p.Gly502Glu) c.1370G>A (p.Gly457Glu) n.2252G>A c.1982G>A (p.Gly661Glu) c.1979G>A (p.Gly660Glu) c.1292G>A (p.Gly431Glu) c.1259G>A (p.Gly420Glu) c.1151G>A (p.Gly384Glu) c.1991G>A (p.Gly664Glu) n.2133G>A n.2255G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.69087895G>C | CA381652124 | TPCN2 | c.1058G>C (p.Gly353Ala) c.2201G>C (p.Gly734Ala) c.*396G>C (n.*396G>C) c.2003+1965G>C (n.2003+1965G>C) c.*33+2609G>C (n.*33+2609G>C) n.1667G>C c.1655G>C (p.Gly552Ala) c.2198G>C (p.Gly733Ala) c.1946G>C (p.Gly649Ala) c.1508G>C (p.Gly503Ala) c.1478G>C (p.Gly493Ala) c.1639+6396G>C (n.1639+6396G>C) c.1689+6396G>C (n.1689+6396G>C) c.1961G>C (p.Gly654Ala) c.1505G>C (p.Gly502Ala) c.1370G>C (p.Gly457Ala) n.2252G>C c.1982G>C (p.Gly661Ala) c.1979G>C (p.Gly660Ala) c.1292G>C (p.Gly431Ala) c.1259G>C (p.Gly420Ala) c.1151G>C (p.Gly384Ala) c.1991G>C (p.Gly664Ala) n.2133G>C n.2255G>C | |
| 11 | g.69087895G= | CA2497029811 | TPCN2 | c.1058G= (p.Gly353=) c.2201G= (p.Gly734=) c.*396G= (n.*396G=) c.2003+1965G= (n.2003+1965G=) c.*33+2609G= (n.*33+2609G=) n.1667G= c.1655G= (p.Gly552=) c.2198G= (p.Gly733=) c.1946G= (p.Gly649=) c.1508G= (p.Gly503=) c.1478G= (p.Gly493=) c.1639+6396G= (n.1639+6396G=) c.1689+6396G= (n.1689+6396G=) c.1961G= (p.Gly654=) c.1505G= (p.Gly502=) c.1370G= (p.Gly457=) n.2252G= c.1982G= (p.Gly661=) c.1979G= (p.Gly660=) c.1292G= (p.Gly431=) c.1259G= (p.Gly420=) c.1151G= (p.Gly384=) c.1991G= (p.Gly664=) n.2133G= n.2255G= | |
| 11 | g.69087895G>T | CA381652125 | TPCN2 | c.1058G>T (p.Gly353Val) c.2201G>T (p.Gly734Val) c.*396G>T (n.*396G>T) c.2003+1965G>T (n.2003+1965G>T) c.*33+2609G>T (n.*33+2609G>T) n.1667G>T c.1655G>T (p.Gly552Val) c.2198G>T (p.Gly733Val) c.1946G>T (p.Gly649Val) c.1508G>T (p.Gly503Val) c.1478G>T (p.Gly493Val) c.1639+6396G>T (n.1639+6396G>T) c.1689+6396G>T (n.1689+6396G>T) c.1961G>T (p.Gly654Val) c.1505G>T (p.Gly502Val) c.1370G>T (p.Gly457Val) n.2252G>T c.1982G>T (p.Gly661Val) c.1979G>T (p.Gly660Val) c.1292G>T (p.Gly431Val) c.1259G>T (p.Gly420Val) c.1151G>T (p.Gly384Val) c.1991G>T (p.Gly664Val) n.2133G>T n.2255G>T | |
| 11 | g.69087896G>A | CA475210641 | TPCN2 | c.1059G>A (p.Gly353=) c.2202G>A (p.Gly734=) c.*397G>A (n.*397G>A) c.2003+1966G>A (n.2003+1966G>A) c.*33+2610G>A (n.*33+2610G>A) n.1668G>A c.1656G>A (p.Gly552=) c.2199G>A (p.Gly733=) c.1947G>A (p.Gly649=) c.1509G>A (p.Gly503=) c.1479G>A (p.Gly493=) c.1639+6397G>A (n.1639+6397G>A) c.1689+6397G>A (n.1689+6397G>A) c.1962G>A (p.Gly654=) c.1506G>A (p.Gly502=) c.1371G>A (p.Gly457=) n.2253G>A c.1983G>A (p.Gly661=) c.1980G>A (p.Gly660=) c.1293G>A (p.Gly431=) c.1260G>A (p.Gly420=) c.1152G>A (p.Gly384=) c.1992G>A (p.Gly664=) n.2134G>A n.2256G>A | dbSNP gnomAD v4 |
| 11 | g.69087896G>C | CA475210642 | TPCN2 | c.1059G>C (p.Gly353=) c.2202G>C (p.Gly734=) c.*397G>C (n.*397G>C) c.2003+1966G>C (n.2003+1966G>C) c.*33+2610G>C (n.*33+2610G>C) n.1668G>C c.1656G>C (p.Gly552=) c.2199G>C (p.Gly733=) c.1947G>C (p.Gly649=) c.1509G>C (p.Gly503=) c.1479G>C (p.Gly493=) c.1639+6397G>C (n.1639+6397G>C) c.1689+6397G>C (n.1689+6397G>C) c.1962G>C (p.Gly654=) c.1506G>C (p.Gly502=) c.1371G>C (p.Gly457=) n.2253G>C c.1983G>C (p.Gly661=) c.1980G>C (p.Gly660=) c.1293G>C (p.Gly431=) c.1260G>C (p.Gly420=) c.1152G>C (p.Gly384=) c.1992G>C (p.Gly664=) n.2134G>C n.2256G>C | |
| 11 | g.69087896G>T | CA475210643 | TPCN2 | c.1059G>T (p.Gly353=) c.2202G>T (p.Gly734=) c.*397G>T (n.*397G>T) c.2003+1966G>T (n.2003+1966G>T) c.*33+2610G>T (n.*33+2610G>T) n.1668G>T c.1656G>T (p.Gly552=) c.2199G>T (p.Gly733=) c.1947G>T (p.Gly649=) c.1509G>T (p.Gly503=) c.1479G>T (p.Gly493=) c.1639+6397G>T (n.1639+6397G>T) c.1689+6397G>T (n.1689+6397G>T) c.1962G>T (p.Gly654=) c.1506G>T (p.Gly502=) c.1371G>T (p.Gly457=) n.2253G>T c.1983G>T (p.Gly661=) c.1980G>T (p.Gly660=) c.1293G>T (p.Gly431=) c.1260G>T (p.Gly420=) c.1152G>T (p.Gly384=) c.1992G>T (p.Gly664=) n.2134G>T n.2256G>T | |
| 11 | g.69087897G>A | CA381652128 | TPCN2 | c.1060G>A (p.Glu354Lys) c.2203G>A (p.Glu735Lys) c.*398G>A (n.*398G>A) c.2003+1967G>A (n.2003+1967G>A) c.*33+2611G>A (n.*33+2611G>A) n.1669G>A c.1657G>A (p.Glu553Lys) c.2200G>A (p.Glu734Lys) c.1948G>A (p.Glu650Lys) c.1510G>A (p.Glu504Lys) c.1480G>A (p.Glu494Lys) c.1639+6398G>A (n.1639+6398G>A) c.1689+6398G>A (n.1689+6398G>A) c.1963G>A (p.Glu655Lys) c.1507G>A (p.Glu503Lys) c.1372G>A (p.Glu458Lys) n.2254G>A c.1984G>A (p.Glu662Lys) c.1981G>A (p.Glu661Lys) c.1294G>A (p.Glu432Lys) c.1261G>A (p.Glu421Lys) c.1153G>A (p.Glu385Lys) c.1993G>A (p.Glu665Lys) n.2135G>A n.2257G>A | gnomAD v4 |
| 11 | g.69087897G>C | CA381652127 | TPCN2 | c.1060G>C (p.Glu354Gln) c.2203G>C (p.Glu735Gln) c.*398G>C (n.*398G>C) c.2003+1967G>C (n.2003+1967G>C) c.*33+2611G>C (n.*33+2611G>C) n.1669G>C c.1657G>C (p.Glu553Gln) c.2200G>C (p.Glu734Gln) c.1948G>C (p.Glu650Gln) c.1510G>C (p.Glu504Gln) c.1480G>C (p.Glu494Gln) c.1639+6398G>C (n.1639+6398G>C) c.1689+6398G>C (n.1689+6398G>C) c.1963G>C (p.Glu655Gln) c.1507G>C (p.Glu503Gln) c.1372G>C (p.Glu458Gln) n.2254G>C c.1984G>C (p.Glu662Gln) c.1981G>C (p.Glu661Gln) c.1294G>C (p.Glu432Gln) c.1261G>C (p.Glu421Gln) c.1153G>C (p.Glu385Gln) c.1993G>C (p.Glu665Gln) n.2135G>C n.2257G>C | |
| 11 | g.69087897G>T | CA381652126 | TPCN2 | c.1060G>T (p.Glu354Ter) c.2203G>T (p.Glu735Ter) c.*398G>T (n.*398G>T) c.2003+1967G>T (n.2003+1967G>T) c.*33+2611G>T (n.*33+2611G>T) n.1669G>T c.1657G>T (p.Glu553Ter) c.2200G>T (p.Glu734Ter) c.1948G>T (p.Glu650Ter) c.1510G>T (p.Glu504Ter) c.1480G>T (p.Glu494Ter) c.1639+6398G>T (n.1639+6398G>T) c.1689+6398G>T (n.1689+6398G>T) c.1963G>T (p.Glu655Ter) c.1507G>T (p.Glu503Ter) c.1372G>T (p.Glu458Ter) n.2254G>T c.1984G>T (p.Glu662Ter) c.1981G>T (p.Glu661Ter) c.1294G>T (p.Glu432Ter) c.1261G>T (p.Glu421Ter) c.1153G>T (p.Glu385Ter) c.1993G>T (p.Glu665Ter) n.2135G>T n.2257G>T | gnomAD v4 |
| 11 | g.69087898A>C | CA381652129 | TPCN2 | c.1061A>C (p.Glu354Ala) c.2204A>C (p.Glu735Ala) c.*399A>C (n.*399A>C) c.2003+1968A>C (n.2003+1968A>C) c.*33+2612A>C (n.*33+2612A>C) n.1670A>C c.1658A>C (p.Glu553Ala) c.2201A>C (p.Glu734Ala) c.1949A>C (p.Glu650Ala) c.1511A>C (p.Glu504Ala) c.1481A>C (p.Glu494Ala) c.1639+6399A>C (n.1639+6399A>C) c.1689+6399A>C (n.1689+6399A>C) c.1964A>C (p.Glu655Ala) c.1508A>C (p.Glu503Ala) c.1373A>C (p.Glu458Ala) n.2255A>C c.1985A>C (p.Glu662Ala) c.1982A>C (p.Glu661Ala) c.1295A>C (p.Glu432Ala) c.1262A>C (p.Glu421Ala) c.1154A>C (p.Glu385Ala) c.1994A>C (p.Glu665Ala) n.2136A>C n.2258A>C | |
| 11 | g.69087898A>G | CA381652130 | TPCN2 | c.1061A>G (p.Glu354Gly) c.2204A>G (p.Glu735Gly) c.*399A>G (n.*399A>G) c.2003+1968A>G (n.2003+1968A>G) c.*33+2612A>G (n.*33+2612A>G) n.1670A>G c.1658A>G (p.Glu553Gly) c.2201A>G (p.Glu734Gly) c.1949A>G (p.Glu650Gly) c.1511A>G (p.Glu504Gly) c.1481A>G (p.Glu494Gly) c.1639+6399A>G (n.1639+6399A>G) c.1689+6399A>G (n.1689+6399A>G) c.1964A>G (p.Glu655Gly) c.1508A>G (p.Glu503Gly) c.1373A>G (p.Glu458Gly) n.2255A>G c.1985A>G (p.Glu662Gly) c.1982A>G (p.Glu661Gly) c.1295A>G (p.Glu432Gly) c.1262A>G (p.Glu421Gly) c.1154A>G (p.Glu385Gly) c.1994A>G (p.Glu665Gly) n.2136A>G n.2258A>G | |
| 11 | g.69087898A>T | CA381652131 | TPCN2 | c.1061A>T (p.Glu354Val) c.2204A>T (p.Glu735Val) c.*399A>T (n.*399A>T) c.2003+1968A>T (n.2003+1968A>T) c.*33+2612A>T (n.*33+2612A>T) n.1670A>T c.1658A>T (p.Glu553Val) c.2201A>T (p.Glu734Val) c.1949A>T (p.Glu650Val) c.1511A>T (p.Glu504Val) c.1481A>T (p.Glu494Val) c.1639+6399A>T (n.1639+6399A>T) c.1689+6399A>T (n.1689+6399A>T) c.1964A>T (p.Glu655Val) c.1508A>T (p.Glu503Val) c.1373A>T (p.Glu458Val) n.2255A>T c.1985A>T (p.Glu662Val) c.1982A>T (p.Glu661Val) c.1295A>T (p.Glu432Val) c.1262A>T (p.Glu421Val) c.1154A>T (p.Glu385Val) c.1994A>T (p.Glu665Val) n.2136A>T n.2258A>T | dbSNP |
| 11 | g.69087899G>A | CA475210644 | TPCN2 | c.1062G>A (p.Glu354=) c.2205G>A (p.Glu735=) c.*400G>A (n.*400G>A) c.2003+1969G>A (n.2003+1969G>A) c.*33+2613G>A (n.*33+2613G>A) n.1671G>A c.1659G>A (p.Glu553=) c.2202G>A (p.Glu734=) c.1950G>A (p.Glu650=) c.1512G>A (p.Glu504=) c.1482G>A (p.Glu494=) c.1639+6400G>A (n.1639+6400G>A) c.1689+6400G>A (n.1689+6400G>A) c.1965G>A (p.Glu655=) c.1509G>A (p.Glu503=) c.1374G>A (p.Glu458=) n.2256G>A c.1986G>A (p.Glu662=) c.1983G>A (p.Glu661=) c.1296G>A (p.Glu432=) c.1263G>A (p.Glu421=) c.1155G>A (p.Glu385=) c.1995G>A (p.Glu665=) n.2137G>A n.2259G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.69087899G>C | CA381652132 | TPCN2 | c.1062G>C (p.Glu354Asp) c.2205G>C (p.Glu735Asp) c.*400G>C (n.*400G>C) c.2003+1969G>C (n.2003+1969G>C) c.*33+2613G>C (n.*33+2613G>C) n.1671G>C c.1659G>C (p.Glu553Asp) c.2202G>C (p.Glu734Asp) c.1950G>C (p.Glu650Asp) c.1512G>C (p.Glu504Asp) c.1482G>C (p.Glu494Asp) c.1639+6400G>C (n.1639+6400G>C) c.1689+6400G>C (n.1689+6400G>C) c.1965G>C (p.Glu655Asp) c.1509G>C (p.Glu503Asp) c.1374G>C (p.Glu458Asp) n.2256G>C c.1986G>C (p.Glu662Asp) c.1983G>C (p.Glu661Asp) c.1296G>C (p.Glu432Asp) c.1263G>C (p.Glu421Asp) c.1155G>C (p.Glu385Asp) c.1995G>C (p.Glu665Asp) n.2137G>C n.2259G>C | gnomAD v4 |
| 11 | g.69087899G>T | CA381652133 | TPCN2 | c.1062G>T (p.Glu354Asp) c.2205G>T (p.Glu735Asp) c.*400G>T (n.*400G>T) c.2003+1969G>T (n.2003+1969G>T) c.*33+2613G>T (n.*33+2613G>T) n.1671G>T c.1659G>T (p.Glu553Asp) c.2202G>T (p.Glu734Asp) c.1950G>T (p.Glu650Asp) c.1512G>T (p.Glu504Asp) c.1482G>T (p.Glu494Asp) c.1639+6400G>T (n.1639+6400G>T) c.1689+6400G>T (n.1689+6400G>T) c.1965G>T (p.Glu655Asp) c.1509G>T (p.Glu503Asp) c.1374G>T (p.Glu458Asp) n.2256G>T c.1986G>T (p.Glu662Asp) c.1983G>T (p.Glu661Asp) c.1296G>T (p.Glu432Asp) c.1263G>T (p.Glu421Asp) c.1155G>T (p.Glu385Asp) c.1995G>T (p.Glu665Asp) n.2137G>T n.2259G>T | |
| 11 | g.69087900G>A | CA381652134 | TPCN2 | c.1063G>A (p.Asp355Asn) c.2206G>A (p.Asp736Asn) c.*401G>A (n.*401G>A) c.2003+1970G>A (n.2003+1970G>A) c.*33+2614G>A (n.*33+2614G>A) n.1672G>A c.1660G>A (p.Asp554Asn) c.2203G>A (p.Asp735Asn) c.1951G>A (p.Asp651Asn) c.1513G>A (p.Asp505Asn) c.1483G>A (p.Asp495Asn) c.1639+6401G>A (n.1639+6401G>A) c.1689+6401G>A (n.1689+6401G>A) c.1966G>A (p.Asp656Asn) c.1510G>A (p.Asp504Asn) c.1375G>A (p.Asp459Asn) n.2257G>A c.1987G>A (p.Asp663Asn) c.1984G>A (p.Asp662Asn) c.1297G>A (p.Asp433Asn) c.1264G>A (p.Asp422Asn) c.1156G>A (p.Asp386Asn) c.1996G>A (p.Asp666Asn) n.2138G>A n.2260G>A | |
| 11 | g.69087900G>C | CA381652135 | TPCN2 | c.1063G>C (p.Asp355His) c.2206G>C (p.Asp736His) c.*401G>C (n.*401G>C) c.2003+1970G>C (n.2003+1970G>C) c.*33+2614G>C (n.*33+2614G>C) n.1672G>C c.1660G>C (p.Asp554His) c.2203G>C (p.Asp735His) c.1951G>C (p.Asp651His) c.1513G>C (p.Asp505His) c.1483G>C (p.Asp495His) c.1639+6401G>C (n.1639+6401G>C) c.1689+6401G>C (n.1689+6401G>C) c.1966G>C (p.Asp656His) c.1510G>C (p.Asp504His) c.1375G>C (p.Asp459His) n.2257G>C c.1987G>C (p.Asp663His) c.1984G>C (p.Asp662His) c.1297G>C (p.Asp433His) c.1264G>C (p.Asp422His) c.1156G>C (p.Asp386His) c.1996G>C (p.Asp666His) n.2138G>C n.2260G>C | |
| 11 | g.69087900G>T | CA381652136 | TPCN2 | c.1063G>T (p.Asp355Tyr) c.2206G>T (p.Asp736Tyr) c.*401G>T (n.*401G>T) c.2003+1970G>T (n.2003+1970G>T) c.*33+2614G>T (n.*33+2614G>T) n.1672G>T c.1660G>T (p.Asp554Tyr) c.2203G>T (p.Asp735Tyr) c.1951G>T (p.Asp651Tyr) c.1513G>T (p.Asp505Tyr) c.1483G>T (p.Asp495Tyr) c.1639+6401G>T (n.1639+6401G>T) c.1689+6401G>T (n.1689+6401G>T) c.1966G>T (p.Asp656Tyr) c.1510G>T (p.Asp504Tyr) c.1375G>T (p.Asp459Tyr) n.2257G>T c.1987G>T (p.Asp663Tyr) c.1984G>T (p.Asp662Tyr) c.1297G>T (p.Asp433Tyr) c.1264G>T (p.Asp422Tyr) c.1156G>T (p.Asp386Tyr) c.1996G>T (p.Asp666Tyr) n.2138G>T n.2260G>T | |
| 11 | g.69087901A>C | CA381652137 | TPCN2 | c.1064A>C (p.Asp355Ala) c.2207A>C (p.Asp736Ala) c.*402A>C (n.*402A>C) c.2003+1971A>C (n.2003+1971A>C) c.*33+2615A>C (n.*33+2615A>C) n.1673A>C c.1661A>C (p.Asp554Ala) c.2204A>C (p.Asp735Ala) c.1952A>C (p.Asp651Ala) c.1514A>C (p.Asp505Ala) c.1484A>C (p.Asp495Ala) c.1639+6402A>C (n.1639+6402A>C) c.1689+6402A>C (n.1689+6402A>C) c.1967A>C (p.Asp656Ala) c.1511A>C (p.Asp504Ala) c.1376A>C (p.Asp459Ala) n.2258A>C c.1988A>C (p.Asp663Ala) c.1985A>C (p.Asp662Ala) c.1298A>C (p.Asp433Ala) c.1265A>C (p.Asp422Ala) c.1157A>C (p.Asp386Ala) c.1997A>C (p.Asp666Ala) n.2139A>C n.2261A>C | |
| 11 | g.69087901A>G | CA381652138 | TPCN2 | c.1064A>G (p.Asp355Gly) c.2207A>G (p.Asp736Gly) c.*402A>G (n.*402A>G) c.2003+1971A>G (n.2003+1971A>G) c.*33+2615A>G (n.*33+2615A>G) n.1673A>G c.1661A>G (p.Asp554Gly) c.2204A>G (p.Asp735Gly) c.1952A>G (p.Asp651Gly) c.1514A>G (p.Asp505Gly) c.1484A>G (p.Asp495Gly) c.1639+6402A>G (n.1639+6402A>G) c.1689+6402A>G (n.1689+6402A>G) c.1967A>G (p.Asp656Gly) c.1511A>G (p.Asp504Gly) c.1376A>G (p.Asp459Gly) n.2258A>G c.1988A>G (p.Asp663Gly) c.1985A>G (p.Asp662Gly) c.1298A>G (p.Asp433Gly) c.1265A>G (p.Asp422Gly) c.1157A>G (p.Asp386Gly) c.1997A>G (p.Asp666Gly) n.2139A>G n.2261A>G | |
| 11 | g.69087901A>T | CA381652139 | TPCN2 | c.1064A>T (p.Asp355Val) c.2207A>T (p.Asp736Val) c.*402A>T (n.*402A>T) c.2003+1971A>T (n.2003+1971A>T) c.*33+2615A>T (n.*33+2615A>T) n.1673A>T c.1661A>T (p.Asp554Val) c.2204A>T (p.Asp735Val) c.1952A>T (p.Asp651Val) c.1514A>T (p.Asp505Val) c.1484A>T (p.Asp495Val) c.1639+6402A>T (n.1639+6402A>T) c.1689+6402A>T (n.1689+6402A>T) c.1967A>T (p.Asp656Val) c.1511A>T (p.Asp504Val) c.1376A>T (p.Asp459Val) n.2258A>T c.1988A>T (p.Asp663Val) c.1985A>T (p.Asp662Val) c.1298A>T (p.Asp433Val) c.1265A>T (p.Asp422Val) c.1157A>T (p.Asp386Val) c.1997A>T (p.Asp666Val) n.2139A>T n.2261A>T | |
| 11 | g.69087902T>A | CA381652141 | TPCN2 | c.1065T>A (p.Asp355Glu) c.2208T>A (p.Asp736Glu) c.*403T>A (n.*403T>A) c.2003+1972T>A (n.2003+1972T>A) c.*33+2616T>A (n.*33+2616T>A) n.1674T>A c.1662T>A (p.Asp554Glu) c.2205T>A (p.Asp735Glu) c.1953T>A (p.Asp651Glu) c.1515T>A (p.Asp505Glu) c.1485T>A (p.Asp495Glu) c.1639+6403T>A (n.1639+6403T>A) c.1689+6403T>A (n.1689+6403T>A) c.1968T>A (p.Asp656Glu) c.1512T>A (p.Asp504Glu) c.1377T>A (p.Asp459Glu) n.2259T>A c.1989T>A (p.Asp663Glu) c.1986T>A (p.Asp662Glu) c.1299T>A (p.Asp433Glu) c.1266T>A (p.Asp422Glu) c.1158T>A (p.Asp386Glu) c.1998T>A (p.Asp666Glu) n.2140T>A n.2262T>A | |
| 11 | g.69087902T>C | CA223439972 | TPCN2 | c.1065T>C (p.Asp355=) c.2208T>C (p.Asp736=) c.*403T>C (n.*403T>C) c.2003+1972T>C (n.2003+1972T>C) c.*33+2616T>C (n.*33+2616T>C) n.1674T>C c.1662T>C (p.Asp554=) c.2205T>C (p.Asp735=) c.1953T>C (p.Asp651=) c.1515T>C (p.Asp505=) c.1485T>C (p.Asp495=) c.1639+6403T>C (n.1639+6403T>C) c.1689+6403T>C (n.1689+6403T>C) c.1968T>C (p.Asp656=) c.1512T>C (p.Asp504=) c.1377T>C (p.Asp459=) n.2259T>C c.1989T>C (p.Asp663=) c.1986T>C (p.Asp662=) c.1299T>C (p.Asp433=) c.1266T>C (p.Asp422=) c.1158T>C (p.Asp386=) c.1998T>C (p.Asp666=) n.2140T>C n.2262T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.69087902T>G | CA381652140 | TPCN2 | c.1065T>G (p.Asp355Glu) c.2208T>G (p.Asp736Glu) c.*403T>G (n.*403T>G) c.2003+1972T>G (n.2003+1972T>G) c.*33+2616T>G (n.*33+2616T>G) n.1674T>G c.1662T>G (p.Asp554Glu) c.2205T>G (p.Asp735Glu) c.1953T>G (p.Asp651Glu) c.1515T>G (p.Asp505Glu) c.1485T>G (p.Asp495Glu) c.1639+6403T>G (n.1639+6403T>G) c.1689+6403T>G (n.1689+6403T>G) c.1968T>G (p.Asp656Glu) c.1512T>G (p.Asp504Glu) c.1377T>G (p.Asp459Glu) n.2259T>G c.1989T>G (p.Asp663Glu) c.1986T>G (p.Asp662Glu) c.1299T>G (p.Asp433Glu) c.1266T>G (p.Asp422Glu) c.1158T>G (p.Asp386Glu) c.1998T>G (p.Asp666Glu) n.2140T>G n.2262T>G | |
| 11 | g.69087903G>A | CA381652142 | TPCN2 | c.1066G>A (p.Glu356Lys) c.2209G>A (p.Glu737Lys) c.*404G>A (n.*404G>A) c.2003+1973G>A (n.2003+1973G>A) c.*33+2617G>A (n.*33+2617G>A) n.1675G>A c.1663G>A (p.Glu555Lys) c.2206G>A (p.Glu736Lys) c.1954G>A (p.Glu652Lys) c.1516G>A (p.Glu506Lys) c.1486G>A (p.Glu496Lys) c.1639+6404G>A (n.1639+6404G>A) c.1689+6404G>A (n.1689+6404G>A) c.1969G>A (p.Glu657Lys) c.1513G>A (p.Glu505Lys) c.1378G>A (p.Glu460Lys) n.2260G>A c.1990G>A (p.Glu664Lys) c.1987G>A (p.Glu663Lys) c.1300G>A (p.Glu434Lys) c.1267G>A (p.Glu423Lys) c.1159G>A (p.Glu387Lys) c.1999G>A (p.Glu667Lys) n.2141G>A n.2263G>A | |
| 11 | g.69087903G>C | CA381652143 | TPCN2 | c.1066G>C (p.Glu356Gln) c.2209G>C (p.Glu737Gln) c.*404G>C (n.*404G>C) c.2003+1973G>C (n.2003+1973G>C) c.*33+2617G>C (n.*33+2617G>C) n.1675G>C c.1663G>C (p.Glu555Gln) c.2206G>C (p.Glu736Gln) c.1954G>C (p.Glu652Gln) c.1516G>C (p.Glu506Gln) c.1486G>C (p.Glu496Gln) c.1639+6404G>C (n.1639+6404G>C) c.1689+6404G>C (n.1689+6404G>C) c.1969G>C (p.Glu657Gln) c.1513G>C (p.Glu505Gln) c.1378G>C (p.Glu460Gln) n.2260G>C c.1990G>C (p.Glu664Gln) c.1987G>C (p.Glu663Gln) c.1300G>C (p.Glu434Gln) c.1267G>C (p.Glu423Gln) c.1159G>C (p.Glu387Gln) c.1999G>C (p.Glu667Gln) n.2141G>C n.2263G>C | |
| 11 | g.69087903G>T | CA381652144 | TPCN2 | c.1066G>T (p.Glu356Ter) c.2209G>T (p.Glu737Ter) c.*404G>T (n.*404G>T) c.2003+1973G>T (n.2003+1973G>T) c.*33+2617G>T (n.*33+2617G>T) n.1675G>T c.1663G>T (p.Glu555Ter) c.2206G>T (p.Glu736Ter) c.1954G>T (p.Glu652Ter) c.1516G>T (p.Glu506Ter) c.1486G>T (p.Glu496Ter) c.1639+6404G>T (n.1639+6404G>T) c.1689+6404G>T (n.1689+6404G>T) c.1969G>T (p.Glu657Ter) c.1513G>T (p.Glu505Ter) c.1378G>T (p.Glu460Ter) n.2260G>T c.1990G>T (p.Glu664Ter) c.1987G>T (p.Glu663Ter) c.1300G>T (p.Glu434Ter) c.1267G>T (p.Glu423Ter) c.1159G>T (p.Glu387Ter) c.1999G>T (p.Glu667Ter) n.2141G>T n.2263G>T | gnomAD v4 |
| 11 | g.69087904A>C | CA381652145 | TPCN2 | c.1067A>C (p.Glu356Ala) c.2210A>C (p.Glu737Ala) c.*405A>C (n.*405A>C) c.2003+1974A>C (n.2003+1974A>C) c.*33+2618A>C (n.*33+2618A>C) n.1676A>C c.1664A>C (p.Glu555Ala) c.2207A>C (p.Glu736Ala) c.1955A>C (p.Glu652Ala) c.1517A>C (p.Glu506Ala) c.1487A>C (p.Glu496Ala) c.1639+6405A>C (n.1639+6405A>C) c.1689+6405A>C (n.1689+6405A>C) c.1970A>C (p.Glu657Ala) c.1514A>C (p.Glu505Ala) c.1379A>C (p.Glu460Ala) n.2261A>C c.1991A>C (p.Glu664Ala) c.1988A>C (p.Glu663Ala) c.1301A>C (p.Glu434Ala) c.1268A>C (p.Glu423Ala) c.1160A>C (p.Glu387Ala) c.2000A>C (p.Glu667Ala) n.2142A>C n.2264A>C | |
| 11 | g.69087904A>G | CA381652146 | TPCN2 | c.1067A>G (p.Glu356Gly) c.2210A>G (p.Glu737Gly) c.*405A>G (n.*405A>G) c.2003+1974A>G (n.2003+1974A>G) c.*33+2618A>G (n.*33+2618A>G) n.1676A>G c.1664A>G (p.Glu555Gly) c.2207A>G (p.Glu736Gly) c.1955A>G (p.Glu652Gly) c.1517A>G (p.Glu506Gly) c.1487A>G (p.Glu496Gly) c.1639+6405A>G (n.1639+6405A>G) c.1689+6405A>G (n.1689+6405A>G) c.1970A>G (p.Glu657Gly) c.1514A>G (p.Glu505Gly) c.1379A>G (p.Glu460Gly) n.2261A>G c.1991A>G (p.Glu664Gly) c.1988A>G (p.Glu663Gly) c.1301A>G (p.Glu434Gly) c.1268A>G (p.Glu423Gly) c.1160A>G (p.Glu387Gly) c.2000A>G (p.Glu667Gly) n.2142A>G n.2264A>G | |
| 11 | g.69087904A>T | CA381652147 | TPCN2 | c.1067A>T (p.Glu356Val) c.2210A>T (p.Glu737Val) c.*405A>T (n.*405A>T) c.2003+1974A>T (n.2003+1974A>T) c.*33+2618A>T (n.*33+2618A>T) n.1676A>T c.1664A>T (p.Glu555Val) c.2207A>T (p.Glu736Val) c.1955A>T (p.Glu652Val) c.1517A>T (p.Glu506Val) c.1487A>T (p.Glu496Val) c.1639+6405A>T (n.1639+6405A>T) c.1689+6405A>T (n.1689+6405A>T) c.1970A>T (p.Glu657Val) c.1514A>T (p.Glu505Val) c.1379A>T (p.Glu460Val) n.2261A>T c.1991A>T (p.Glu664Val) c.1988A>T (p.Glu663Val) c.1301A>T (p.Glu434Val) c.1268A>T (p.Glu423Val) c.1160A>T (p.Glu387Val) c.2000A>T (p.Glu667Val) n.2142A>T n.2264A>T | |
| 11 | g.69087905G>A | CA475210645 | TPCN2 | c.1068G>A (p.Glu356=) c.2211G>A (p.Glu737=) c.*406G>A (n.*406G>A) c.2003+1975G>A (n.2003+1975G>A) c.*33+2619G>A (n.*33+2619G>A) n.1677G>A c.1665G>A (p.Glu555=) c.2208G>A (p.Glu736=) c.1956G>A (p.Glu652=) c.1518G>A (p.Glu506=) c.1488G>A (p.Glu496=) c.1639+6406G>A (n.1639+6406G>A) c.1689+6406G>A (n.1689+6406G>A) c.1971G>A (p.Glu657=) c.1515G>A (p.Glu505=) c.1380G>A (p.Glu460=) n.2262G>A c.1992G>A (p.Glu664=) c.1989G>A (p.Glu663=) c.1302G>A (p.Glu434=) c.1269G>A (p.Glu423=) c.1161G>A (p.Glu387=) c.2001G>A (p.Glu667=) n.2143G>A n.2265G>A | COSMIC |
| 11 | g.69087905G>C | CA381652149 | TPCN2 | c.1068G>C (p.Glu356Asp) c.2211G>C (p.Glu737Asp) c.*406G>C (n.*406G>C) c.2003+1975G>C (n.2003+1975G>C) c.*33+2619G>C (n.*33+2619G>C) n.1677G>C c.1665G>C (p.Glu555Asp) c.2208G>C (p.Glu736Asp) c.1956G>C (p.Glu652Asp) c.1518G>C (p.Glu506Asp) c.1488G>C (p.Glu496Asp) c.1639+6406G>C (n.1639+6406G>C) c.1689+6406G>C (n.1689+6406G>C) c.1971G>C (p.Glu657Asp) c.1515G>C (p.Glu505Asp) c.1380G>C (p.Glu460Asp) n.2262G>C c.1992G>C (p.Glu664Asp) c.1989G>C (p.Glu663Asp) c.1302G>C (p.Glu434Asp) c.1269G>C (p.Glu423Asp) c.1161G>C (p.Glu387Asp) c.2001G>C (p.Glu667Asp) n.2143G>C n.2265G>C | dbSNP gnomAD v2 |
| 11 | g.69087905G>T | CA381652148 | TPCN2 | c.1068G>T (p.Glu356Asp) c.2211G>T (p.Glu737Asp) c.*406G>T (n.*406G>T) c.2003+1975G>T (n.2003+1975G>T) c.*33+2619G>T (n.*33+2619G>T) n.1677G>T c.1665G>T (p.Glu555Asp) c.2208G>T (p.Glu736Asp) c.1956G>T (p.Glu652Asp) c.1518G>T (p.Glu506Asp) c.1488G>T (p.Glu496Asp) c.1639+6406G>T (n.1639+6406G>T) c.1689+6406G>T (n.1689+6406G>T) c.1971G>T (p.Glu657Asp) c.1515G>T (p.Glu505Asp) c.1380G>T (p.Glu460Asp) n.2262G>T c.1992G>T (p.Glu664Asp) c.1989G>T (p.Glu663Asp) c.1302G>T (p.Glu434Asp) c.1269G>T (p.Glu423Asp) c.1161G>T (p.Glu387Asp) c.2001G>T (p.Glu667Asp) n.2143G>T n.2265G>T | |
| 11 | g.69087906C>A | CA381652150 | TPCN2 | c.1069C>A (p.Leu357Ile) c.2212C>A (p.Leu738Ile) c.*407C>A (n.*407C>A) c.2003+1976C>A (n.2003+1976C>A) c.*33+2620C>A (n.*33+2620C>A) n.1678C>A c.1666C>A (p.Leu556Ile) c.2209C>A (p.Leu737Ile) c.1957C>A (p.Leu653Ile) c.1519C>A (p.Leu507Ile) c.1489C>A (p.Leu497Ile) c.1639+6407C>A (n.1639+6407C>A) c.1689+6407C>A (n.1689+6407C>A) c.1972C>A (p.Leu658Ile) c.1516C>A (p.Leu506Ile) c.1381C>A (p.Leu461Ile) n.2263C>A c.1993C>A (p.Leu665Ile) c.1990C>A (p.Leu664Ile) c.1303C>A (p.Leu435Ile) c.1270C>A (p.Leu424Ile) c.1162C>A (p.Leu388Ile) c.2002C>A (p.Leu668Ile) n.2144C>A n.2266C>A | |
| 11 | g.69087906C>G | CA381652151 | TPCN2 | c.1069C>G (p.Leu357Val) c.2212C>G (p.Leu738Val) c.*407C>G (n.*407C>G) c.2003+1976C>G (n.2003+1976C>G) c.*33+2620C>G (n.*33+2620C>G) n.1678C>G c.1666C>G (p.Leu556Val) c.2209C>G (p.Leu737Val) c.1957C>G (p.Leu653Val) c.1519C>G (p.Leu507Val) c.1489C>G (p.Leu497Val) c.1639+6407C>G (n.1639+6407C>G) c.1689+6407C>G (n.1689+6407C>G) c.1972C>G (p.Leu658Val) c.1516C>G (p.Leu506Val) c.1381C>G (p.Leu461Val) n.2263C>G c.1993C>G (p.Leu665Val) c.1990C>G (p.Leu664Val) c.1303C>G (p.Leu435Val) c.1270C>G (p.Leu424Val) c.1162C>G (p.Leu388Val) c.2002C>G (p.Leu668Val) n.2144C>G n.2266C>G | |
| 11 | g.69087906C>T | CA6155686 | TPCN2 | c.1069C>T (p.Leu357Phe) c.2212C>T (p.Leu738Phe) c.*407C>T (n.*407C>T) c.2003+1976C>T (n.2003+1976C>T) c.*33+2620C>T (n.*33+2620C>T) n.1678C>T c.1666C>T (p.Leu556Phe) c.2209C>T (p.Leu737Phe) c.1957C>T (p.Leu653Phe) c.1519C>T (p.Leu507Phe) c.1489C>T (p.Leu497Phe) c.1639+6407C>T (n.1639+6407C>T) c.1689+6407C>T (n.1689+6407C>T) c.1972C>T (p.Leu658Phe) c.1516C>T (p.Leu506Phe) c.1381C>T (p.Leu461Phe) n.2263C>T c.1993C>T (p.Leu665Phe) c.1990C>T (p.Leu664Phe) c.1303C>T (p.Leu435Phe) c.1270C>T (p.Leu424Phe) c.1162C>T (p.Leu388Phe) c.2002C>T (p.Leu668Phe) n.2144C>T n.2266C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.69087907T>A | CA381652152 | TPCN2 | c.1070T>A (p.Leu357His) c.2213T>A (p.Leu738His) c.*408T>A (n.*408T>A) c.2003+1977T>A (n.2003+1977T>A) c.*33+2621T>A (n.*33+2621T>A) n.1679T>A c.1667T>A (p.Leu556His) c.2210T>A (p.Leu737His) c.1958T>A (p.Leu653His) c.1520T>A (p.Leu507His) c.1490T>A (p.Leu497His) c.1639+6408T>A (n.1639+6408T>A) c.1689+6408T>A (n.1689+6408T>A) c.1973T>A (p.Leu658His) c.1517T>A (p.Leu506His) c.1382T>A (p.Leu461His) n.2264T>A c.1994T>A (p.Leu665His) c.1991T>A (p.Leu664His) c.1304T>A (p.Leu435His) c.1271T>A (p.Leu424His) c.1163T>A (p.Leu388His) c.2003T>A (p.Leu668His) n.2145T>A n.2267T>A | |
| 11 | g.69087907T>C | CA381652153 | TPCN2 | c.1070T>C (p.Leu357Pro) c.2213T>C (p.Leu738Pro) c.*408T>C (n.*408T>C) c.2003+1977T>C (n.2003+1977T>C) c.*33+2621T>C (n.*33+2621T>C) n.1679T>C c.1667T>C (p.Leu556Pro) c.2210T>C (p.Leu737Pro) c.1958T>C (p.Leu653Pro) c.1520T>C (p.Leu507Pro) c.1490T>C (p.Leu497Pro) c.1639+6408T>C (n.1639+6408T>C) c.1689+6408T>C (n.1689+6408T>C) c.1973T>C (p.Leu658Pro) c.1517T>C (p.Leu506Pro) c.1382T>C (p.Leu461Pro) n.2264T>C c.1994T>C (p.Leu665Pro) c.1991T>C (p.Leu664Pro) c.1304T>C (p.Leu435Pro) c.1271T>C (p.Leu424Pro) c.1163T>C (p.Leu388Pro) c.2003T>C (p.Leu668Pro) n.2145T>C n.2267T>C | dbSNP gnomAD v4 |
| 11 | g.69087907T>G | CA381652154 | TPCN2 | c.1070T>G (p.Leu357Arg) c.2213T>G (p.Leu738Arg) c.*408T>G (n.*408T>G) c.2003+1977T>G (n.2003+1977T>G) c.*33+2621T>G (n.*33+2621T>G) n.1679T>G c.1667T>G (p.Leu556Arg) c.2210T>G (p.Leu737Arg) c.1958T>G (p.Leu653Arg) c.1520T>G (p.Leu507Arg) c.1490T>G (p.Leu497Arg) c.1639+6408T>G (n.1639+6408T>G) c.1689+6408T>G (n.1689+6408T>G) c.1973T>G (p.Leu658Arg) c.1517T>G (p.Leu506Arg) c.1382T>G (p.Leu461Arg) n.2264T>G c.1994T>G (p.Leu665Arg) c.1991T>G (p.Leu664Arg) c.1304T>G (p.Leu435Arg) c.1271T>G (p.Leu424Arg) c.1163T>G (p.Leu388Arg) c.2003T>G (p.Leu668Arg) n.2145T>G n.2267T>G | |
| 11 | g.69087908C>A | CA475210648 | TPCN2 | c.1071C>A (p.Leu357=) c.2214C>A (p.Leu738=) c.*409C>A (n.*409C>A) c.2003+1978C>A (n.2003+1978C>A) c.*33+2622C>A (n.*33+2622C>A) n.1680C>A c.1668C>A (p.Leu556=) c.2211C>A (p.Leu737=) c.1959C>A (p.Leu653=) c.1521C>A (p.Leu507=) c.1491C>A (p.Leu497=) c.1639+6409C>A (n.1639+6409C>A) c.1689+6409C>A (n.1689+6409C>A) c.1974C>A (p.Leu658=) c.1518C>A (p.Leu506=) c.1383C>A (p.Leu461=) n.2265C>A c.1995C>A (p.Leu665=) c.1992C>A (p.Leu664=) c.1305C>A (p.Leu435=) c.1272C>A (p.Leu424=) c.1164C>A (p.Leu388=) c.2004C>A (p.Leu668=) n.2146C>A n.2268C>A | gnomAD v4 |
| 11 | g.69087908C>G | CA475210647 | TPCN2 | c.1071C>G (p.Leu357=) c.2214C>G (p.Leu738=) c.*409C>G (n.*409C>G) c.2003+1978C>G (n.2003+1978C>G) c.*33+2622C>G (n.*33+2622C>G) n.1680C>G c.1668C>G (p.Leu556=) c.2211C>G (p.Leu737=) c.1959C>G (p.Leu653=) c.1521C>G (p.Leu507=) c.1491C>G (p.Leu497=) c.1639+6409C>G (n.1639+6409C>G) c.1689+6409C>G (n.1689+6409C>G) c.1974C>G (p.Leu658=) c.1518C>G (p.Leu506=) c.1383C>G (p.Leu461=) n.2265C>G c.1995C>G (p.Leu665=) c.1992C>G (p.Leu664=) c.1305C>G (p.Leu435=) c.1272C>G (p.Leu424=) c.1164C>G (p.Leu388=) c.2004C>G (p.Leu668=) n.2146C>G n.2268C>G | |
| 11 | g.69087908C>T | CA475210646 | TPCN2 | c.1071C>T (p.Leu357=) c.2214C>T (p.Leu738=) c.*409C>T (n.*409C>T) c.2003+1978C>T (n.2003+1978C>T) c.*33+2622C>T (n.*33+2622C>T) n.1680C>T c.1668C>T (p.Leu556=) c.2211C>T (p.Leu737=) c.1959C>T (p.Leu653=) c.1521C>T (p.Leu507=) c.1491C>T (p.Leu497=) c.1639+6409C>T (n.1639+6409C>T) c.1689+6409C>T (n.1689+6409C>T) c.1974C>T (p.Leu658=) c.1518C>T (p.Leu506=) c.1383C>T (p.Leu461=) n.2265C>T c.1995C>T (p.Leu665=) c.1992C>T (p.Leu664=) c.1305C>T (p.Leu435=) c.1272C>T (p.Leu424=) c.1164C>T (p.Leu388=) c.2004C>T (p.Leu668=) n.2146C>T n.2268C>T | |
| 11 | g.69087909A>C | CA381652155 | TPCN2 | c.1072A>C (p.Thr358Pro) c.2215A>C (p.Thr739Pro) c.*410A>C (n.*410A>C) c.2003+1979A>C (n.2003+1979A>C) c.*33+2623A>C (n.*33+2623A>C) n.1681A>C c.1669A>C (p.Thr557Pro) c.2212A>C (p.Thr738Pro) c.1960A>C (p.Thr654Pro) c.1522A>C (p.Thr508Pro) c.1492A>C (p.Thr498Pro) c.1639+6410A>C (n.1639+6410A>C) c.1689+6410A>C (n.1689+6410A>C) c.1975A>C (p.Thr659Pro) c.1519A>C (p.Thr507Pro) c.1384A>C (p.Thr462Pro) n.2266A>C c.1996A>C (p.Thr666Pro) c.1993A>C (p.Thr665Pro) c.1306A>C (p.Thr436Pro) c.1273A>C (p.Thr425Pro) c.1165A>C (p.Thr389Pro) c.2005A>C (p.Thr669Pro) n.2147A>C n.2269A>C | dbSNP gnomAD v4 |
| 11 | g.69087909A>G | CA381652157 | TPCN2 | c.1072A>G (p.Thr358Ala) c.2215A>G (p.Thr739Ala) c.*410A>G (n.*410A>G) c.2003+1979A>G (n.2003+1979A>G) c.*33+2623A>G (n.*33+2623A>G) n.1681A>G c.1669A>G (p.Thr557Ala) c.2212A>G (p.Thr738Ala) c.1960A>G (p.Thr654Ala) c.1522A>G (p.Thr508Ala) c.1492A>G (p.Thr498Ala) c.1639+6410A>G (n.1639+6410A>G) c.1689+6410A>G (n.1689+6410A>G) c.1975A>G (p.Thr659Ala) c.1519A>G (p.Thr507Ala) c.1384A>G (p.Thr462Ala) n.2266A>G c.1996A>G (p.Thr666Ala) c.1993A>G (p.Thr665Ala) c.1306A>G (p.Thr436Ala) c.1273A>G (p.Thr425Ala) c.1165A>G (p.Thr389Ala) c.2005A>G (p.Thr669Ala) n.2147A>G n.2269A>G | gnomAD v4 |
| 11 | g.69087909A>T | CA381652156 | TPCN2 | c.1072A>T (p.Thr358Ser) c.2215A>T (p.Thr739Ser) c.*410A>T (n.*410A>T) c.2003+1979A>T (n.2003+1979A>T) c.*33+2623A>T (n.*33+2623A>T) n.1681A>T c.1669A>T (p.Thr557Ser) c.2212A>T (p.Thr738Ser) c.1960A>T (p.Thr654Ser) c.1522A>T (p.Thr508Ser) c.1492A>T (p.Thr498Ser) c.1639+6410A>T (n.1639+6410A>T) c.1689+6410A>T (n.1689+6410A>T) c.1975A>T (p.Thr659Ser) c.1519A>T (p.Thr507Ser) c.1384A>T (p.Thr462Ser) n.2266A>T c.1996A>T (p.Thr666Ser) c.1993A>T (p.Thr665Ser) c.1306A>T (p.Thr436Ser) c.1273A>T (p.Thr425Ser) c.1165A>T (p.Thr389Ser) c.2005A>T (p.Thr669Ser) n.2147A>T n.2269A>T | |
| 11 | g.69087910C>A | CA381652158 | TPCN2 | c.1073C>A (p.Thr358Lys) c.2216C>A (p.Thr739Lys) c.*411C>A (n.*411C>A) c.2003+1980C>A (n.2003+1980C>A) c.*33+2624C>A (n.*33+2624C>A) n.1682C>A c.1670C>A (p.Thr557Lys) c.2213C>A (p.Thr738Lys) c.1961C>A (p.Thr654Lys) c.1523C>A (p.Thr508Lys) c.1493C>A (p.Thr498Lys) c.1639+6411C>A (n.1639+6411C>A) c.1689+6411C>A (n.1689+6411C>A) c.1976C>A (p.Thr659Lys) c.1520C>A (p.Thr507Lys) c.1385C>A (p.Thr462Lys) n.2267C>A c.1997C>A (p.Thr666Lys) c.1994C>A (p.Thr665Lys) c.1307C>A (p.Thr436Lys) c.1274C>A (p.Thr425Lys) c.1166C>A (p.Thr389Lys) c.2006C>A (p.Thr669Lys) n.2148C>A n.2270C>A | |
| 11 | g.69087910C>G | CA6155687 | TPCN2 | c.1073C>G (p.Thr358Arg) c.2216C>G (p.Thr739Arg) c.*411C>G (n.*411C>G) c.2003+1980C>G (n.2003+1980C>G) c.*33+2624C>G (n.*33+2624C>G) n.1682C>G c.1670C>G (p.Thr557Arg) c.2213C>G (p.Thr738Arg) c.1961C>G (p.Thr654Arg) c.1523C>G (p.Thr508Arg) c.1493C>G (p.Thr498Arg) c.1639+6411C>G (n.1639+6411C>G) c.1689+6411C>G (n.1689+6411C>G) c.1976C>G (p.Thr659Arg) c.1520C>G (p.Thr507Arg) c.1385C>G (p.Thr462Arg) n.2267C>G c.1997C>G (p.Thr666Arg) c.1994C>G (p.Thr665Arg) c.1307C>G (p.Thr436Arg) c.1274C>G (p.Thr425Arg) c.1166C>G (p.Thr389Arg) c.2006C>G (p.Thr669Arg) n.2148C>G n.2270C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |