Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.43877814C>A | CA346671287 | ABCG8 | c.1923C>A (p.Tyr641Ter) c.1920C>A (p.Tyr640Ter) c.1935C>A (p.Tyr645Ter) c.1932C>A (p.Tyr644Ter) c.1707C>A (p.Tyr569Ter) n.2425C>A n.2439C>A | |
2 | g.43877814C= | CA2493965143 | ABCG8 | c.1923C= (p.Tyr641=) c.1920C= (p.Tyr640=) c.1935C= (p.Tyr645=) c.1932C= (p.Tyr644=) c.1707C= (p.Tyr569=) n.2425C= n.2439C= | |
2 | g.43877814C>G | CA346671289 | ABCG8 | c.1923C>G (p.Tyr641Ter) c.1920C>G (p.Tyr640Ter) c.1935C>G (p.Tyr645Ter) c.1932C>G (p.Tyr644Ter) c.1707C>G (p.Tyr569Ter) n.2425C>G n.2439C>G | |
2 | g.43877814C>T | CA1637725 | ABCG8 | c.1923C>T (p.Tyr641=) c.1920C>T (p.Tyr640=) c.1935C>T (p.Tyr645=) c.1932C>T (p.Tyr644=) c.1707C>T (p.Tyr569=) n.2425C>T n.2439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877815G>A | CA1637726 | ABCG8 | c.1924G>A (p.Ala642Thr) c.1921G>A (p.Ala641Thr) c.1936G>A (p.Ala646Thr) c.1933G>A (p.Ala645Thr) c.1708G>A (p.Ala570Thr) n.2426G>A n.2440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877815G>C | CA346671294 | ABCG8 | c.1924G>C (p.Ala642Pro) c.1921G>C (p.Ala641Pro) c.1936G>C (p.Ala646Pro) c.1933G>C (p.Ala645Pro) c.1708G>C (p.Ala570Pro) n.2426G>C n.2440G>C | |
2 | g.43877815G= | CA2493965144 | ABCG8 | c.1924G= (p.Ala642=) c.1921G= (p.Ala641=) c.1936G= (p.Ala646=) c.1933G= (p.Ala645=) c.1708G= (p.Ala570=) n.2426G= n.2440G= | |
2 | g.43877815G>T | CA346671292 | ABCG8 | c.1924G>T (p.Ala642Ser) c.1921G>T (p.Ala641Ser) c.1936G>T (p.Ala646Ser) c.1933G>T (p.Ala645Ser) c.1708G>T (p.Ala570Ser) n.2426G>T n.2440G>T | ClinVar |
2 | g.43877815dup | CA532288643 | ABCG8 | c.1924dup (p.Ala642GlyfsTer?) c.1921dup (p.Ala641GlyfsTer?) c.1936dup (p.Ala646GlyfsTer?) c.1933dup (p.Ala645GlyfsTer?) c.1708dup (p.Ala570GlyfsTer?) n.2426dup n.2440dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877816C>A | CA346671295 | ABCG8 | c.1925C>A (p.Ala642Asp) c.1922C>A (p.Ala641Asp) c.1937C>A (p.Ala646Asp) c.1934C>A (p.Ala645Asp) c.1709C>A (p.Ala570Asp) n.2427C>A n.2441C>A | gnomAD v4 |
2 | g.43877816C= | CA2493965145 | ABCG8 | c.1925C= (p.Ala642=) c.1922C= (p.Ala641=) c.1937C= (p.Ala646=) c.1934C= (p.Ala645=) c.1709C= (p.Ala570=) n.2427C= n.2441C= | |
2 | g.43877816C>G | CA46474732 | ABCG8 | c.1925C>G (p.Ala642Gly) c.1922C>G (p.Ala641Gly) c.1937C>G (p.Ala646Gly) c.1934C>G (p.Ala645Gly) c.1709C>G (p.Ala570Gly) n.2427C>G n.2441C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877816C>T | CA346671297 | ABCG8 | c.1925C>T (p.Ala642Val) c.1922C>T (p.Ala641Val) c.1937C>T (p.Ala646Val) c.1934C>T (p.Ala645Val) c.1709C>T (p.Ala570Val) n.2427C>T n.2441C>T | |
2 | g.43877817C>A | CA425908303 | ABCG8 | c.1926C>A (p.Ala642=) c.1923C>A (p.Ala641=) c.1938C>A (p.Ala646=) c.1935C>A (p.Ala645=) c.1710C>A (p.Ala570=) n.2428C>A n.2442C>A | gnomAD v4 |
2 | g.43877817C= | CA2493965146 | ABCG8 | c.1926C= (p.Ala642=) c.1923C= (p.Ala641=) c.1938C= (p.Ala646=) c.1935C= (p.Ala645=) c.1710C= (p.Ala570=) n.2428C= n.2442C= | |
2 | g.43877817C>G | CA425908304 | ABCG8 | c.1926C>G (p.Ala642=) c.1923C>G (p.Ala641=) c.1938C>G (p.Ala646=) c.1935C>G (p.Ala645=) c.1710C>G (p.Ala570=) n.2428C>G n.2442C>G | |
2 | g.43877817C>T | CA425908305 | ABCG8 | c.1926C>T (p.Ala642=) c.1923C>T (p.Ala641=) c.1938C>T (p.Ala646=) c.1935C>T (p.Ala645=) c.1710C>T (p.Ala570=) n.2428C>T n.2442C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877818A= | CA2493965147 | ABCG8 | c.1927A= (p.Ile643=) c.1924A= (p.Ile642=) c.1939A= (p.Ile647=) c.1936A= (p.Ile646=) c.1711A= (p.Ile571=) n.2429A= n.2443A= | |
2 | g.43877818A>C | CA346671300 | ABCG8 | c.1927A>C (p.Ile643Leu) c.1924A>C (p.Ile642Leu) c.1939A>C (p.Ile647Leu) c.1936A>C (p.Ile646Leu) c.1711A>C (p.Ile571Leu) n.2429A>C n.2443A>C | |
2 | g.43877818A>G | CA46474739 | ABCG8 | c.1927A>G (p.Ile643Val) c.1924A>G (p.Ile642Val) c.1939A>G (p.Ile647Val) c.1936A>G (p.Ile646Val) c.1711A>G (p.Ile571Val) n.2429A>G n.2443A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877818A>T | CA346671302 | ABCG8 | c.1927A>T (p.Ile643Phe) c.1924A>T (p.Ile642Phe) c.1939A>T (p.Ile647Phe) c.1936A>T (p.Ile646Phe) c.1711A>T (p.Ile571Phe) n.2429A>T n.2443A>T | dbSNP |
2 | g.43877819T>A | CA346671305 | ABCG8 | c.1928T>A (p.Ile643Asn) c.1925T>A (p.Ile642Asn) c.1940T>A (p.Ile647Asn) c.1937T>A (p.Ile646Asn) c.1712T>A (p.Ile571Asn) n.2430T>A n.2444T>A | |
2 | g.43877819T>C | CA346671307 | ABCG8 | c.1928T>C (p.Ile643Thr) c.1925T>C (p.Ile642Thr) c.1940T>C (p.Ile647Thr) c.1937T>C (p.Ile646Thr) c.1712T>C (p.Ile571Thr) n.2430T>C n.2444T>C | COSMIC |
2 | g.43877819T>G | CA346671308 | ABCG8 | c.1928T>G (p.Ile643Ser) c.1925T>G (p.Ile642Ser) c.1940T>G (p.Ile647Ser) c.1937T>G (p.Ile646Ser) c.1712T>G (p.Ile571Ser) n.2430T>G n.2444T>G | |
2 | g.43877821_43877841dup | CA2658838101 | ABCG8 | c.1930_1950dup (p.Leu650_Ser651insTyrLeuIleValIleGlyLeu) c.1927_1947dup (p.Leu649_Ser650insTyrLeuIleValIleGlyLeu) c.1942_1962dup (p.Leu654_Ser655insTyrLeuIleValIleGlyLeu) c.1939_1959dup (p.Leu653_Ser654insTyrLeuIleValIleGlyLeu) c.1714_1734dup (p.Leu578_Ser579insTyrLeuIleValIleGlyLeu) n.2432_2452dup n.2446_2466dup | gnomAD v4 |
2 | g.43877820C>A | CA425908306 | ABCG8 | c.1929C>A (p.Ile643=) c.1926C>A (p.Ile642=) c.1941C>A (p.Ile647=) c.1938C>A (p.Ile646=) c.1713C>A (p.Ile571=) n.2431C>A n.2445C>A | |
2 | g.43877820C>G | CA346671310 | ABCG8 | c.1929C>G (p.Ile643Met) c.1926C>G (p.Ile642Met) c.1941C>G (p.Ile647Met) c.1938C>G (p.Ile646Met) c.1713C>G (p.Ile571Met) n.2431C>G n.2445C>G | gnomAD v4 |
2 | g.43877820C>T | CA425908307 | ABCG8 | c.1929C>T (p.Ile643=) c.1926C>T (p.Ile642=) c.1941C>T (p.Ile647=) c.1938C>T (p.Ile646=) c.1713C>T (p.Ile571=) n.2431C>T n.2445C>T | |
2 | g.43877821T>A | CA346671312 | ABCG8 | c.1930T>A (p.Tyr644Asn) c.1927T>A (p.Tyr643Asn) c.1942T>A (p.Tyr648Asn) c.1939T>A (p.Tyr647Asn) c.1714T>A (p.Tyr572Asn) n.2432T>A n.2446T>A | |
2 | g.43877821T>C | CA346671314 | ABCG8 | c.1930T>C (p.Tyr644His) c.1927T>C (p.Tyr643His) c.1942T>C (p.Tyr648His) c.1939T>C (p.Tyr647His) c.1714T>C (p.Tyr572His) n.2432T>C n.2446T>C | |
2 | g.43877821T>G | CA346671315 | ABCG8 | c.1930T>G (p.Tyr644Asp) c.1927T>G (p.Tyr643Asp) c.1942T>G (p.Tyr648Asp) c.1939T>G (p.Tyr647Asp) c.1714T>G (p.Tyr572Asp) n.2432T>G n.2446T>G | |
2 | g.43877822A= | CA2493965148 | ABCG8 | c.1931A= (p.Tyr644=) c.1928A= (p.Tyr643=) c.1943A= (p.Tyr648=) c.1940A= (p.Tyr647=) c.1715A= (p.Tyr572=) n.2433A= n.2447A= | |
2 | g.43877822A>C | CA346671317 | ABCG8 | c.1931A>C (p.Tyr644Ser) c.1928A>C (p.Tyr643Ser) c.1943A>C (p.Tyr648Ser) c.1940A>C (p.Tyr647Ser) c.1715A>C (p.Tyr572Ser) n.2433A>C n.2447A>C | |
2 | g.43877822A>G | CA1637727 | ABCG8 | c.1931A>G (p.Tyr644Cys) c.1928A>G (p.Tyr643Cys) c.1943A>G (p.Tyr648Cys) c.1940A>G (p.Tyr647Cys) c.1715A>G (p.Tyr572Cys) n.2433A>G n.2447A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877822A>T | CA346671319 | ABCG8 | c.1931A>T (p.Tyr644Phe) c.1928A>T (p.Tyr643Phe) c.1943A>T (p.Tyr648Phe) c.1940A>T (p.Tyr647Phe) c.1715A>T (p.Tyr572Phe) n.2433A>T n.2447A>T | |
2 | g.43877823C>A | CA346671323 | ABCG8 | c.1932C>A (p.Tyr644Ter) c.1929C>A (p.Tyr643Ter) c.1944C>A (p.Tyr648Ter) c.1941C>A (p.Tyr647Ter) c.1716C>A (p.Tyr572Ter) n.2434C>A n.2448C>A | |
2 | g.43877823C>G | CA346671321 | ABCG8 | c.1932C>G (p.Tyr644Ter) c.1929C>G (p.Tyr643Ter) c.1944C>G (p.Tyr648Ter) c.1941C>G (p.Tyr647Ter) c.1716C>G (p.Tyr572Ter) n.2434C>G n.2448C>G | |
2 | g.43877823C>T | CA425908308 | ABCG8 | c.1932C>T (p.Tyr644=) c.1929C>T (p.Tyr643=) c.1944C>T (p.Tyr648=) c.1941C>T (p.Tyr647=) c.1716C>T (p.Tyr572=) n.2434C>T n.2448C>T | |
2 | g.43877824C>A | CA346671324 | ABCG8 | c.1933C>A (p.Leu645Ile) c.1930C>A (p.Leu644Ile) c.1945C>A (p.Leu649Ile) c.1942C>A (p.Leu648Ile) c.1717C>A (p.Leu573Ile) n.2435C>A n.2449C>A | |
2 | g.43877824C>G | CA346671326 | ABCG8 | c.1933C>G (p.Leu645Val) c.1930C>G (p.Leu644Val) c.1945C>G (p.Leu649Val) c.1942C>G (p.Leu648Val) c.1717C>G (p.Leu573Val) n.2435C>G n.2449C>G | |
2 | g.43877824C>T | CA346671328 | ABCG8 | c.1933C>T (p.Leu645Phe) c.1930C>T (p.Leu644Phe) c.1945C>T (p.Leu649Phe) c.1942C>T (p.Leu648Phe) c.1717C>T (p.Leu573Phe) n.2435C>T n.2449C>T | |
2 | g.43877825T>A | CA346671329 | ABCG8 | c.1934T>A (p.Leu645His) c.1931T>A (p.Leu644His) c.1946T>A (p.Leu649His) c.1943T>A (p.Leu648His) c.1718T>A (p.Leu573His) n.2436T>A n.2450T>A | |
2 | g.43877825T>C | CA346671331 | ABCG8 | c.1934T>C (p.Leu645Pro) c.1931T>C (p.Leu644Pro) c.1946T>C (p.Leu649Pro) c.1943T>C (p.Leu648Pro) c.1718T>C (p.Leu573Pro) n.2436T>C n.2450T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877825T>G | CA346671333 | ABCG8 | c.1934T>G (p.Leu645Arg) c.1931T>G (p.Leu644Arg) c.1946T>G (p.Leu649Arg) c.1943T>G (p.Leu648Arg) c.1718T>G (p.Leu573Arg) n.2436T>G n.2450T>G | |
2 | g.43877825T= | CA2493965149 | ABCG8 | c.1934T= (p.Leu645=) c.1931T= (p.Leu644=) c.1946T= (p.Leu649=) c.1943T= (p.Leu648=) c.1718T= (p.Leu573=) n.2436T= n.2450T= | |
2 | g.43877826C>A | CA425908309 | ABCG8 | c.1935C>A (p.Leu645=) c.1932C>A (p.Leu644=) c.1947C>A (p.Leu649=) c.1944C>A (p.Leu648=) c.1719C>A (p.Leu573=) n.2437C>A n.2451C>A | |
2 | g.43877826C>G | CA425908311 | ABCG8 | c.1935C>G (p.Leu645=) c.1932C>G (p.Leu644=) c.1947C>G (p.Leu649=) c.1944C>G (p.Leu648=) c.1719C>G (p.Leu573=) n.2437C>G n.2451C>G | |
2 | g.43877826C>T | CA425908310 | ABCG8 | c.1935C>T (p.Leu645=) c.1932C>T (p.Leu644=) c.1947C>T (p.Leu649=) c.1944C>T (p.Leu648=) c.1719C>T (p.Leu573=) n.2437C>T n.2451C>T | gnomAD v4 |
2 | g.43877827A= | CA2493965150 | ABCG8 | c.1936A= (p.Ile646=) c.1933A= (p.Ile645=) c.1948A= (p.Ile650=) c.1945A= (p.Ile649=) c.1720A= (p.Ile574=) n.2438A= n.2452A= | |
2 | g.43877827A>C | CA346671335 | ABCG8 | c.1936A>C (p.Ile646Leu) c.1933A>C (p.Ile645Leu) c.1948A>C (p.Ile650Leu) c.1945A>C (p.Ile649Leu) c.1720A>C (p.Ile574Leu) n.2438A>C n.2452A>C | gnomAD v4 |
2 | g.43877827A>G | CA346671336 | ABCG8 | c.1936A>G (p.Ile646Val) c.1933A>G (p.Ile645Val) c.1948A>G (p.Ile650Val) c.1945A>G (p.Ile649Val) c.1720A>G (p.Ile574Val) n.2438A>G n.2452A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877827A>T | CA346671338 | ABCG8 | c.1936A>T (p.Ile646Phe) c.1933A>T (p.Ile645Phe) c.1948A>T (p.Ile650Phe) c.1945A>T (p.Ile649Phe) c.1720A>T (p.Ile574Phe) n.2438A>T n.2452A>T | |
2 | g.43877828T>A | CA346671340 | ABCG8 | c.1937T>A (p.Ile646Asn) c.1934T>A (p.Ile645Asn) c.1949T>A (p.Ile650Asn) c.1946T>A (p.Ile649Asn) c.1721T>A (p.Ile574Asn) n.2439T>A n.2453T>A | |
2 | g.43877828T>C | CA346671342 | ABCG8 | c.1937T>C (p.Ile646Thr) c.1934T>C (p.Ile645Thr) c.1949T>C (p.Ile650Thr) c.1946T>C (p.Ile649Thr) c.1721T>C (p.Ile574Thr) n.2439T>C n.2453T>C | |
2 | g.43877828T>G | CA346671344 | ABCG8 | c.1937T>G (p.Ile646Ser) c.1934T>G (p.Ile645Ser) c.1949T>G (p.Ile650Ser) c.1946T>G (p.Ile649Ser) c.1721T>G (p.Ile574Ser) n.2439T>G n.2453T>G | |
2 | g.43877828_43877829delinsTC | CA2493965151 | ABCG8 | c.1937_1938delinsTC (p.Ile646=) c.1934_1935delinsTC (p.Ile645=) c.1949_1950delinsTC (p.Ile650=) c.1946_1947delinsTC (p.Ile649=) c.1721_1722delinsTC (p.Ile574=) n.2439_2440delinsTC n.2453_2454delinsTC | |
2 | g.43877829del | CA769091768 | ABCG8 | c.1938del (p.Ile646MetfsTer17) c.1935del (p.Ile645MetfsTer17) c.1950del (p.Ile650MetfsTer17) c.1947del (p.Ile649MetfsTer17) c.1722del (p.Ile574MetfsTer17) n.2440del n.2454del | dbSNP |
2 | g.43877829C>A | CA425908312 | ABCG8 | c.1938C>A (p.Ile646=) c.1935C>A (p.Ile645=) c.1950C>A (p.Ile650=) c.1947C>A (p.Ile649=) c.1722C>A (p.Ile574=) n.2440C>A n.2454C>A | |
2 | g.43877829C>G | CA346671345 | ABCG8 | c.1938C>G (p.Ile646Met) c.1935C>G (p.Ile645Met) c.1950C>G (p.Ile650Met) c.1947C>G (p.Ile649Met) c.1722C>G (p.Ile574Met) n.2440C>G n.2454C>G | |
2 | g.43877829C>T | CA425908313 | ABCG8 | c.1938C>T (p.Ile646=) c.1935C>T (p.Ile645=) c.1950C>T (p.Ile650=) c.1947C>T (p.Ile649=) c.1722C>T (p.Ile574=) n.2440C>T n.2454C>T | COSMIC |
2 | g.43877829_43877830delinsT | CA2580066526 | ABCG8 | c.1938_1939delinsT (p.Val647SerfsTer16) c.1935_1936delinsT (p.Val646SerfsTer16) c.1950_1951delinsT (p.Val651SerfsTer16) c.1947_1948delinsT (p.Val650SerfsTer16) c.1722_1723delinsT (p.Val575SerfsTer16) n.2440_2441delinsT n.2454_2455delinsT | ClinVar |
2 | g.43877830G>A | CA346671347 | ABCG8 | c.1939G>A (p.Val647Ile) c.1936G>A (p.Val646Ile) c.1951G>A (p.Val651Ile) c.1948G>A (p.Val650Ile) c.1723G>A (p.Val575Ile) n.2441G>A n.2455G>A | dbSNP gnomAD v4 |
2 | g.43877830G>C | CA346671351 | ABCG8 | c.1939G>C (p.Val647Leu) c.1936G>C (p.Val646Leu) c.1951G>C (p.Val651Leu) c.1948G>C (p.Val650Leu) c.1723G>C (p.Val575Leu) n.2441G>C n.2455G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877830G= | CA2493965152 | ABCG8 | c.1939G= (p.Val647=) c.1936G= (p.Val646=) c.1951G= (p.Val651=) c.1948G= (p.Val650=) c.1723G= (p.Val575=) n.2441G= n.2455G= | |
2 | g.43877830G>T | CA346671349 | ABCG8 | c.1939G>T (p.Val647Phe) c.1936G>T (p.Val646Phe) c.1951G>T (p.Val651Phe) c.1948G>T (p.Val650Phe) c.1723G>T (p.Val575Phe) n.2441G>T n.2455G>T | dbSNP |
2 | g.43877831T>A | CA346671353 | ABCG8 | c.1940T>A (p.Val647Asp) c.1937T>A (p.Val646Asp) c.1952T>A (p.Val651Asp) c.1949T>A (p.Val650Asp) c.1724T>A (p.Val575Asp) n.2442T>A n.2456T>A | |
2 | g.43877831T>C | CA346671355 | ABCG8 | c.1940T>C (p.Val647Ala) c.1937T>C (p.Val646Ala) c.1952T>C (p.Val651Ala) c.1949T>C (p.Val650Ala) c.1724T>C (p.Val575Ala) n.2442T>C n.2456T>C | |
2 | g.43877831T>G | CA346671357 | ABCG8 | c.1940T>G (p.Val647Gly) c.1937T>G (p.Val646Gly) c.1952T>G (p.Val651Gly) c.1949T>G (p.Val650Gly) c.1724T>G (p.Val575Gly) n.2442T>G n.2456T>G | |
2 | g.43877832C>A | CA425908314 | ABCG8 | c.1941C>A (p.Val647=) c.1938C>A (p.Val646=) c.1953C>A (p.Val651=) c.1950C>A (p.Val650=) c.1725C>A (p.Val575=) n.2443C>A n.2457C>A | |
2 | g.43877832C= | CA2493965153 | ABCG8 | c.1941C= (p.Val647=) c.1938C= (p.Val646=) c.1953C= (p.Val651=) c.1950C= (p.Val650=) c.1725C= (p.Val575=) n.2443C= n.2457C= | |
2 | g.43877832C>G | CA1637728 | ABCG8 | c.1941C>G (p.Val647=) c.1938C>G (p.Val646=) c.1953C>G (p.Val651=) c.1950C>G (p.Val650=) c.1725C>G (p.Val575=) n.2443C>G n.2457C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877832C>T | CA425908315 | ABCG8 | c.1941C>T (p.Val647=) c.1938C>T (p.Val646=) c.1953C>T (p.Val651=) c.1950C>T (p.Val650=) c.1725C>T (p.Val575=) n.2443C>T n.2457C>T | ClinVar dbSNP gnomAD v4 |
2 | g.43877833A>C | CA346671360 | ABCG8 | c.1942A>C (p.Ile648Leu) c.1939A>C (p.Ile647Leu) c.1954A>C (p.Ile652Leu) c.1951A>C (p.Ile651Leu) c.1726A>C (p.Ile576Leu) n.2444A>C n.2458A>C | gnomAD v4 |
2 | g.43877833A>G | CA346671362 | ABCG8 | c.1942A>G (p.Ile648Val) c.1939A>G (p.Ile647Val) c.1954A>G (p.Ile652Val) c.1951A>G (p.Ile651Val) c.1726A>G (p.Ile576Val) n.2444A>G n.2458A>G | |
2 | g.43877833A>T | CA346671363 | ABCG8 | c.1942A>T (p.Ile648Phe) c.1939A>T (p.Ile647Phe) c.1954A>T (p.Ile652Phe) c.1951A>T (p.Ile651Phe) c.1726A>T (p.Ile576Phe) n.2444A>T n.2458A>T | |
2 | g.43877834T>A | CA346671366 | ABCG8 | c.1943T>A (p.Ile648Asn) c.1940T>A (p.Ile647Asn) c.1955T>A (p.Ile652Asn) c.1952T>A (p.Ile651Asn) c.1727T>A (p.Ile576Asn) n.2445T>A n.2459T>A | |
2 | g.43877834T>C | CA346671367 | ABCG8 | c.1943T>C (p.Ile648Thr) c.1940T>C (p.Ile647Thr) c.1955T>C (p.Ile652Thr) c.1952T>C (p.Ile651Thr) c.1727T>C (p.Ile576Thr) n.2445T>C n.2459T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877834T>G | CA346671369 | ABCG8 | c.1943T>G (p.Ile648Ser) c.1940T>G (p.Ile647Ser) c.1955T>G (p.Ile652Ser) c.1952T>G (p.Ile651Ser) c.1727T>G (p.Ile576Ser) n.2445T>G n.2459T>G | |
2 | g.43877834T= | CA2493965154 | ABCG8 | c.1943T= (p.Ile648=) c.1940T= (p.Ile647=) c.1955T= (p.Ile652=) c.1952T= (p.Ile651=) c.1727T= (p.Ile576=) n.2445T= n.2459T= | |
2 | g.43877835T>A | CA425908316 | ABCG8 | c.1944T>A (p.Ile648=) c.1941T>A (p.Ile647=) c.1956T>A (p.Ile652=) c.1953T>A (p.Ile651=) c.1728T>A (p.Ile576=) n.2446T>A n.2460T>A | |
2 | g.43877835T>C | CA425908317 | ABCG8 | c.1944T>C (p.Ile648=) c.1941T>C (p.Ile647=) c.1956T>C (p.Ile652=) c.1953T>C (p.Ile651=) c.1728T>C (p.Ile576=) n.2446T>C n.2460T>C | |
2 | g.43877835T>G | CA346671371 | ABCG8 | c.1944T>G (p.Ile648Met) c.1941T>G (p.Ile647Met) c.1956T>G (p.Ile652Met) c.1953T>G (p.Ile651Met) c.1728T>G (p.Ile576Met) n.2446T>G n.2460T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877835T= | CA2493965155 | ABCG8 | c.1944T= (p.Ile648=) c.1941T= (p.Ile647=) c.1956T= (p.Ile652=) c.1953T= (p.Ile651=) c.1728T= (p.Ile576=) n.2446T= n.2460T= | |
2 | g.43877839_43877850del | CA2658838102 | ABCG8 | c.1948_1959del (p.Leu650_Gly653del) c.1945_1956del (p.Leu649_Gly652del) c.1960_1971del (p.Leu654_Gly657del) c.1957_1968del (p.Leu653_Gly656del) c.1732_1743del (p.Leu578_Gly581del) n.2450_2461del n.2464_2475del | gnomAD v4 |
2 | g.43877836G>A | CA346671377 | ABCG8 | c.1945G>A (p.Gly649Ser) c.1942G>A (p.Gly648Ser) c.1957G>A (p.Gly653Ser) c.1954G>A (p.Gly652Ser) c.1729G>A (p.Gly577Ser) n.2447G>A n.2461G>A | |
2 | g.43877836G>C | CA346671376 | ABCG8 | c.1945G>C (p.Gly649Arg) c.1942G>C (p.Gly648Arg) c.1957G>C (p.Gly653Arg) c.1954G>C (p.Gly652Arg) c.1729G>C (p.Gly577Arg) n.2447G>C n.2461G>C | |
2 | g.43877836G>T | CA346671374 | ABCG8 | c.1945G>T (p.Gly649Cys) c.1942G>T (p.Gly648Cys) c.1957G>T (p.Gly653Cys) c.1954G>T (p.Gly652Cys) c.1729G>T (p.Gly577Cys) n.2447G>T n.2461G>T | |
2 | g.43877837G>A | CA346671380 | ABCG8 | c.1946G>A (p.Gly649Asp) c.1943G>A (p.Gly648Asp) c.1958G>A (p.Gly653Asp) c.1955G>A (p.Gly652Asp) c.1730G>A (p.Gly577Asp) n.2448G>A n.2462G>A | |
2 | g.43877837G>C | CA346671381 | ABCG8 | c.1946G>C (p.Gly649Ala) c.1943G>C (p.Gly648Ala) c.1958G>C (p.Gly653Ala) c.1955G>C (p.Gly652Ala) c.1730G>C (p.Gly577Ala) n.2448G>C n.2462G>C | |
2 | g.43877837G>T | CA346671383 | ABCG8 | c.1946G>T (p.Gly649Val) c.1943G>T (p.Gly648Val) c.1958G>T (p.Gly653Val) c.1955G>T (p.Gly652Val) c.1730G>T (p.Gly577Val) n.2448G>T n.2462G>T | |
2 | g.43877838C>A | CA425908318 | ABCG8 | c.1947C>A (p.Gly649=) c.1944C>A (p.Gly648=) c.1959C>A (p.Gly653=) c.1956C>A (p.Gly652=) c.1731C>A (p.Gly577=) n.2449C>A n.2463C>A | |
2 | g.43877838C>G | CA425908320 | ABCG8 | c.1947C>G (p.Gly649=) c.1944C>G (p.Gly648=) c.1959C>G (p.Gly653=) c.1956C>G (p.Gly652=) c.1731C>G (p.Gly577=) n.2449C>G n.2463C>G | |
2 | g.43877838C>T | CA425908319 | ABCG8 | c.1947C>T (p.Gly649=) c.1944C>T (p.Gly648=) c.1959C>T (p.Gly653=) c.1956C>T (p.Gly652=) c.1731C>T (p.Gly577=) n.2449C>T n.2463C>T | |
2 | g.43877839C>A | CA346671385 | ABCG8 | c.1948C>A (p.Leu650Ile) c.1945C>A (p.Leu649Ile) c.1960C>A (p.Leu654Ile) c.1957C>A (p.Leu653Ile) c.1732C>A (p.Leu578Ile) n.2450C>A n.2464C>A | |
2 | g.43877839C>G | CA346671386 | ABCG8 | c.1948C>G (p.Leu650Val) c.1945C>G (p.Leu649Val) c.1960C>G (p.Leu654Val) c.1957C>G (p.Leu653Val) c.1732C>G (p.Leu578Val) n.2450C>G n.2464C>G | |
2 | g.43877839C>T | CA346671388 | ABCG8 | c.1948C>T (p.Leu650Phe) c.1945C>T (p.Leu649Phe) c.1960C>T (p.Leu654Phe) c.1957C>T (p.Leu653Phe) c.1732C>T (p.Leu578Phe) n.2450C>T n.2464C>T | |
2 | g.43877840T>A | CA346671390 | ABCG8 | c.1949T>A (p.Leu650His) c.1946T>A (p.Leu649His) c.1961T>A (p.Leu654His) c.1958T>A (p.Leu653His) c.1733T>A (p.Leu578His) n.2451T>A n.2465T>A | gnomAD v4 |
2 | g.43877840T>C | CA346671392 | ABCG8 | c.1949T>C (p.Leu650Pro) c.1946T>C (p.Leu649Pro) c.1961T>C (p.Leu654Pro) c.1958T>C (p.Leu653Pro) c.1733T>C (p.Leu578Pro) n.2451T>C n.2465T>C | |
2 | g.43877840T>G | CA346671394 | ABCG8 | c.1949T>G (p.Leu650Arg) c.1946T>G (p.Leu649Arg) c.1961T>G (p.Leu654Arg) c.1958T>G (p.Leu653Arg) c.1733T>G (p.Leu578Arg) n.2451T>G n.2465T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877840T= | CA2493965156 | ABCG8 | c.1949T= (p.Leu650=) c.1946T= (p.Leu649=) c.1961T= (p.Leu654=) c.1958T= (p.Leu653=) c.1733T= (p.Leu578=) n.2451T= n.2465T= | |
2 | g.43877841C>A | CA425908321 | ABCG8 | c.1950C>A (p.Leu650=) c.1947C>A (p.Leu649=) c.1962C>A (p.Leu654=) c.1959C>A (p.Leu653=) c.1734C>A (p.Leu578=) n.2452C>A n.2466C>A | |
2 | g.43877841C= | CA2493965157 | ABCG8 | c.1950C= (p.Leu650=) c.1947C= (p.Leu649=) c.1962C= (p.Leu654=) c.1959C= (p.Leu653=) c.1734C= (p.Leu578=) n.2452C= n.2466C= | |
2 | g.43877841C>G | CA425908322 | ABCG8 | c.1950C>G (p.Leu650=) c.1947C>G (p.Leu649=) c.1962C>G (p.Leu654=) c.1959C>G (p.Leu653=) c.1734C>G (p.Leu578=) n.2452C>G n.2466C>G | |
2 | g.43877841C>T | CA425908323 | ABCG8 | c.1950C>T (p.Leu650=) c.1947C>T (p.Leu649=) c.1962C>T (p.Leu654=) c.1959C>T (p.Leu653=) c.1734C>T (p.Leu578=) n.2452C>T n.2466C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.43877842A>C | CA346671396 | ABCG8 | c.1951A>C (p.Ser651Arg) c.1948A>C (p.Ser650Arg) c.1963A>C (p.Ser655Arg) c.1960A>C (p.Ser654Arg) c.1735A>C (p.Ser579Arg) n.2453A>C n.2467A>C | gnomAD v4 |
2 | g.43877842A>G | CA346671398 | ABCG8 | c.1951A>G (p.Ser651Gly) c.1948A>G (p.Ser650Gly) c.1963A>G (p.Ser655Gly) c.1960A>G (p.Ser654Gly) c.1735A>G (p.Ser579Gly) n.2453A>G n.2467A>G | |
2 | g.43877842A>T | CA346671400 | ABCG8 | c.1951A>T (p.Ser651Cys) c.1948A>T (p.Ser650Cys) c.1963A>T (p.Ser655Cys) c.1960A>T (p.Ser654Cys) c.1735A>T (p.Ser579Cys) n.2453A>T n.2467A>T | |
2 | g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGA | CA2749705968 | ABCG8 | c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu650_Ser651insThrValProArgLysGlyLeuLeu) c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu649_Ser650insThrValProArgLysGlyLeuLeu) c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu654_Ser655insThrValProArgLysGlyLeuLeu) c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu653_Ser654insThrValProArgLysGlyLeuLeu) c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu578_Ser579insThrValProArgLysGlyLeuLeu) n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGA n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGA | |
2 | g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA | CA2749705969 | ABCG8 | c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser651ThrfsTer?) c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser650ThrfsTer?) c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser655ThrfsTer?) c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser654ThrfsTer?) c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser579ThrfsTer?) n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA | |
2 | g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT | CA2749705970 | ABCG8 | c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser651delinsThrValProArgLysGlyLeuLeuArgArgGluCys) c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser650delinsThrValProArgLysGlyLeuLeuArgArgGluCys) c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser655delinsThrValProArgLysGlyLeuLeuArgArgGluCys) c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser654delinsThrValProArgLysGlyLeuLeuArgArgGluCys) c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser579delinsThrValProArgLysGlyLeuLeuArgArgGluCys) n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT | |
2 | g.43877843G>A | CA346671406 | ABCG8 | c.1952G>A (p.Ser651Asn) c.1949G>A (p.Ser650Asn) c.1964G>A (p.Ser655Asn) c.1961G>A (p.Ser654Asn) c.1736G>A (p.Ser579Asn) n.2454G>A n.2468G>A | dbSNP |
2 | g.43877843G>C | CA346671404 | ABCG8 | c.1952G>C (p.Ser651Thr) c.1949G>C (p.Ser650Thr) c.1964G>C (p.Ser655Thr) c.1961G>C (p.Ser654Thr) c.1736G>C (p.Ser579Thr) n.2454G>C n.2468G>C | |
2 | g.43877843G= | CA2493965158 | ABCG8 | c.1952G= (p.Ser651=) c.1949G= (p.Ser650=) c.1964G= (p.Ser655=) c.1961G= (p.Ser654=) c.1736G= (p.Ser579=) n.2454G= n.2468G= | |
2 | g.43877843G>T | CA346671402 | ABCG8 | c.1952G>T (p.Ser651Ile) c.1949G>T (p.Ser650Ile) c.1964G>T (p.Ser655Ile) c.1961G>T (p.Ser654Ile) c.1736G>T (p.Ser579Ile) n.2454G>T n.2468G>T | |
2 | g.43877844C>A | CA346671409 | ABCG8 | c.1953C>A (p.Ser651Arg) c.1950C>A (p.Ser650Arg) c.1965C>A (p.Ser655Arg) c.1962C>A (p.Ser654Arg) c.1737C>A (p.Ser579Arg) n.2455C>A n.2469C>A | dbSNP |
2 | g.43877844C>G | CA346671408 | ABCG8 | c.1953C>G (p.Ser651Arg) c.1950C>G (p.Ser650Arg) c.1965C>G (p.Ser655Arg) c.1962C>G (p.Ser654Arg) c.1737C>G (p.Ser579Arg) n.2455C>G n.2469C>G | |
2 | g.43877844C>T | CA425908324 | ABCG8 | c.1953C>T (p.Ser651=) c.1950C>T (p.Ser650=) c.1965C>T (p.Ser655=) c.1962C>T (p.Ser654=) c.1737C>T (p.Ser579=) n.2455C>T n.2469C>T | gnomAD v3 gnomAD v4 |
2 | g.43877845G>A | CA1637729 | ABCG8 | c.1954G>A (p.Gly652Ser) c.1951G>A (p.Gly651Ser) c.1966G>A (p.Gly656Ser) c.1963G>A (p.Gly655Ser) c.1738G>A (p.Gly580Ser) n.2456G>A n.2470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877845G>C | CA346671413 | ABCG8 | c.1954G>C (p.Gly652Arg) c.1951G>C (p.Gly651Arg) c.1966G>C (p.Gly656Arg) c.1963G>C (p.Gly655Arg) c.1738G>C (p.Gly580Arg) n.2456G>C n.2470G>C | |
2 | g.43877845G= | CA2493965159 | ABCG8 | c.1954G= (p.Gly652=) c.1951G= (p.Gly651=) c.1966G= (p.Gly656=) c.1963G= (p.Gly655=) c.1738G= (p.Gly580=) n.2456G= n.2470G= | |
2 | g.43877845G>T | CA346671414 | ABCG8 | c.1954G>T (p.Gly652Cys) c.1951G>T (p.Gly651Cys) c.1966G>T (p.Gly656Cys) c.1963G>T (p.Gly655Cys) c.1738G>T (p.Gly580Cys) n.2456G>T n.2470G>T | gnomAD v4 |
2 | g.43877846G>A | CA346671416 | ABCG8 | c.1955G>A (p.Gly652Asp) c.1952G>A (p.Gly651Asp) c.1967G>A (p.Gly656Asp) c.1964G>A (p.Gly655Asp) c.1739G>A (p.Gly580Asp) n.2457G>A n.2471G>A | |
2 | g.43877846G>C | CA346671418 | ABCG8 | c.1955G>C (p.Gly652Ala) c.1952G>C (p.Gly651Ala) c.1967G>C (p.Gly656Ala) c.1964G>C (p.Gly655Ala) c.1739G>C (p.Gly580Ala) n.2457G>C n.2471G>C | |
2 | g.43877846G= | CA2493965160 | ABCG8 | c.1955G= (p.Gly652=) c.1952G= (p.Gly651=) c.1967G= (p.Gly656=) c.1964G= (p.Gly655=) c.1739G= (p.Gly580=) n.2457G= n.2471G= | |
2 | g.43877846G>T | CA346671420 | ABCG8 | c.1955G>T (p.Gly652Val) c.1952G>T (p.Gly651Val) c.1967G>T (p.Gly656Val) c.1964G>T (p.Gly655Val) c.1739G>T (p.Gly580Val) n.2457G>T n.2471G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877847T>A | CA425908327 | ABCG8 | c.1956T>A (p.Gly652=) c.1953T>A (p.Gly651=) c.1968T>A (p.Gly656=) c.1965T>A (p.Gly655=) c.1740T>A (p.Gly580=) n.2458T>A n.2472T>A | |
2 | g.43877847T>C | CA425908326 | ABCG8 | c.1956T>C (p.Gly652=) c.1953T>C (p.Gly651=) c.1968T>C (p.Gly656=) c.1965T>C (p.Gly655=) c.1740T>C (p.Gly580=) n.2458T>C n.2472T>C | dbSNP gnomAD v4 |
2 | g.43877847T>G | CA425908325 | ABCG8 | c.1956T>G (p.Gly652=) c.1953T>G (p.Gly651=) c.1968T>G (p.Gly656=) c.1965T>G (p.Gly655=) c.1740T>G (p.Gly580=) n.2458T>G n.2472T>G | |
2 | g.43877847T= | CA2493965161 | ABCG8 | c.1956T= (p.Gly652=) c.1953T= (p.Gly651=) c.1968T= (p.Gly656=) c.1965T= (p.Gly655=) c.1740T= (p.Gly580=) n.2458T= n.2472T= | |
2 | g.43877848G>A | CA346671422 | ABCG8 | c.1957G>A (p.Gly653Ser) c.1954G>A (p.Gly652Ser) c.1969G>A (p.Gly657Ser) c.1966G>A (p.Gly656Ser) c.1741G>A (p.Gly581Ser) n.2459G>A n.2473G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877848G>C | CA346671424 | ABCG8 | c.1957G>C (p.Gly653Arg) c.1954G>C (p.Gly652Arg) c.1969G>C (p.Gly657Arg) c.1966G>C (p.Gly656Arg) c.1741G>C (p.Gly581Arg) n.2459G>C n.2473G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877848G= | CA2493965162 | ABCG8 | c.1957G= (p.Gly653=) c.1954G= (p.Gly652=) c.1969G= (p.Gly657=) c.1966G= (p.Gly656=) c.1741G= (p.Gly581=) n.2459G= n.2473G= | |
2 | g.43877848G>T | CA346671426 | ABCG8 | c.1957G>T (p.Gly653Cys) c.1954G>T (p.Gly652Cys) c.1969G>T (p.Gly657Cys) c.1966G>T (p.Gly656Cys) c.1741G>T (p.Gly581Cys) n.2459G>T n.2473G>T | COSMIC |
2 | g.43877849G>A | CA346671428 | ABCG8 | c.1958G>A (p.Gly653Asp) c.1955G>A (p.Gly652Asp) c.1970G>A (p.Gly657Asp) c.1967G>A (p.Gly656Asp) c.1742G>A (p.Gly581Asp) n.2460G>A n.2474G>A | gnomAD v4 |
2 | g.43877849G>C | CA346671430 | ABCG8 | c.1958G>C (p.Gly653Ala) c.1955G>C (p.Gly652Ala) c.1970G>C (p.Gly657Ala) c.1967G>C (p.Gly656Ala) c.1742G>C (p.Gly581Ala) n.2460G>C n.2474G>C | |
2 | g.43877849G>T | CA346671431 | ABCG8 | c.1958G>T (p.Gly653Val) c.1955G>T (p.Gly652Val) c.1970G>T (p.Gly657Val) c.1967G>T (p.Gly656Val) c.1742G>T (p.Gly581Val) n.2460G>T n.2474G>T | |
2 | g.43877850C>A | CA425908328 | ABCG8 | c.1959C>A (p.Gly653=) c.1956C>A (p.Gly652=) c.1971C>A (p.Gly657=) c.1968C>A (p.Gly656=) c.1743C>A (p.Gly581=) n.2461C>A n.2475C>A | |
2 | g.43877850C>G | CA425908329 | ABCG8 | c.1959C>G (p.Gly653=) c.1956C>G (p.Gly652=) c.1971C>G (p.Gly657=) c.1968C>G (p.Gly656=) c.1743C>G (p.Gly581=) n.2461C>G n.2475C>G | |
2 | g.43877850C>T | CA425908330 | ABCG8 | c.1959C>T (p.Gly653=) c.1956C>T (p.Gly652=) c.1971C>T (p.Gly657=) c.1968C>T (p.Gly656=) c.1743C>T (p.Gly581=) n.2461C>T n.2475C>T | |
2 | g.43877851T>A | CA346671436 | ABCG8 | c.1960T>A (p.Phe654Ile) c.1957T>A (p.Phe653Ile) c.1972T>A (p.Phe658Ile) c.1969T>A (p.Phe657Ile) c.1744T>A (p.Phe582Ile) n.2462T>A n.2476T>A | |
2 | g.43877851T>C | CA346671434 | ABCG8 | c.1960T>C (p.Phe654Leu) c.1957T>C (p.Phe653Leu) c.1972T>C (p.Phe658Leu) c.1969T>C (p.Phe657Leu) c.1744T>C (p.Phe582Leu) n.2462T>C n.2476T>C | gnomAD v4 |
2 | g.43877851T>G | CA346671432 | ABCG8 | c.1960T>G (p.Phe654Val) c.1957T>G (p.Phe653Val) c.1972T>G (p.Phe658Val) c.1969T>G (p.Phe657Val) c.1744T>G (p.Phe582Val) n.2462T>G n.2476T>G | |
2 | g.43877852T>A | CA346671438 | ABCG8 | c.1961T>A (p.Phe654Tyr) c.1958T>A (p.Phe653Tyr) c.1973T>A (p.Phe658Tyr) c.1970T>A (p.Phe657Tyr) c.1745T>A (p.Phe582Tyr) n.2463T>A n.2477T>A | |
2 | g.43877852T>C | CA346671440 | ABCG8 | c.1961T>C (p.Phe654Ser) c.1958T>C (p.Phe653Ser) c.1973T>C (p.Phe658Ser) c.1970T>C (p.Phe657Ser) c.1745T>C (p.Phe582Ser) n.2463T>C n.2477T>C | gnomAD v4 |
2 | g.43877852T>G | CA346671442 | ABCG8 | c.1961T>G (p.Phe654Cys) c.1958T>G (p.Phe653Cys) c.1973T>G (p.Phe658Cys) c.1970T>G (p.Phe657Cys) c.1745T>G (p.Phe582Cys) n.2463T>G n.2477T>G | gnomAD v4 |
2 | g.43877853C>A | CA346671444 | ABCG8 | c.1962C>A (p.Phe654Leu) c.1959C>A (p.Phe653Leu) c.1974C>A (p.Phe658Leu) c.1971C>A (p.Phe657Leu) c.1746C>A (p.Phe582Leu) n.2464C>A n.2478C>A | |
2 | g.43877853C>G | CA346671446 | ABCG8 | c.1962C>G (p.Phe654Leu) c.1959C>G (p.Phe653Leu) c.1974C>G (p.Phe658Leu) c.1971C>G (p.Phe657Leu) c.1746C>G (p.Phe582Leu) n.2464C>G n.2478C>G | |
2 | g.43877853C>T | CA425908331 | ABCG8 | c.1962C>T (p.Phe654=) c.1959C>T (p.Phe653=) c.1974C>T (p.Phe658=) c.1971C>T (p.Phe657=) c.1746C>T (p.Phe582=) n.2464C>T n.2478C>T | gnomAD v4 |
2 | g.43877854A= | CA2493965163 | ABCG8 | c.1963A= (p.Met655=) c.1960A= (p.Met654=) c.1975A= (p.Met659=) c.1972A= (p.Met658=) c.1747A= (p.Met583=) n.2465A= n.2479A= | |
2 | g.43877854A>C | CA346671448 | ABCG8 | c.1963A>C (p.Met655Leu) c.1960A>C (p.Met654Leu) c.1975A>C (p.Met659Leu) c.1972A>C (p.Met658Leu) c.1747A>C (p.Met583Leu) n.2465A>C n.2479A>C | |
2 | g.43877854A>G | CA1637730 | ABCG8 | c.1963A>G (p.Met655Val) c.1960A>G (p.Met654Val) c.1975A>G (p.Met659Val) c.1972A>G (p.Met658Val) c.1747A>G (p.Met583Val) n.2465A>G n.2479A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877854A>T | CA346671450 | ABCG8 | c.1963A>T (p.Met655Leu) c.1960A>T (p.Met654Leu) c.1975A>T (p.Met659Leu) c.1972A>T (p.Met658Leu) c.1747A>T (p.Met583Leu) n.2465A>T n.2479A>T | |
2 | g.43877855T>A | CA346671451 | ABCG8 | c.1964T>A (p.Met655Lys) c.1961T>A (p.Met654Lys) c.1976T>A (p.Met659Lys) c.1973T>A (p.Met658Lys) c.1748T>A (p.Met583Lys) n.2466T>A n.2480T>A | |
2 | g.43877855T>C | CA346671452 | ABCG8 | c.1964T>C (p.Met655Thr) c.1961T>C (p.Met654Thr) c.1976T>C (p.Met659Thr) c.1973T>C (p.Met658Thr) c.1748T>C (p.Met583Thr) n.2466T>C n.2480T>C | gnomAD v4 |
2 | g.43877855T>G | CA346671453 | ABCG8 | c.1964T>G (p.Met655Arg) c.1961T>G (p.Met654Arg) c.1976T>G (p.Met659Arg) c.1973T>G (p.Met658Arg) c.1748T>G (p.Met583Arg) n.2466T>G n.2480T>G | |
2 | g.43877856G>A | CA346671454 | ABCG8 | c.1965G>A (p.Met655Ile) c.1962G>A (p.Met654Ile) c.1977G>A (p.Met659Ile) c.1974G>A (p.Met658Ile) c.1749G>A (p.Met583Ile) n.2467G>A n.2481G>A | |
2 | g.43877856G>C | CA346671455 | ABCG8 | c.1965G>C (p.Met655Ile) c.1962G>C (p.Met654Ile) c.1977G>C (p.Met659Ile) c.1974G>C (p.Met658Ile) c.1749G>C (p.Met583Ile) n.2467G>C n.2481G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877856G= | CA2493965164 | ABCG8 | c.1965G= (p.Met655=) c.1962G= (p.Met654=) c.1977G= (p.Met659=) c.1974G= (p.Met658=) c.1749G= (p.Met583=) n.2467G= n.2481G= | |
2 | g.43877856G>T | CA346671456 | ABCG8 | c.1965G>T (p.Met655Ile) c.1962G>T (p.Met654Ile) c.1977G>T (p.Met659Ile) c.1974G>T (p.Met658Ile) c.1749G>T (p.Met583Ile) n.2467G>T n.2481G>T | |
2 | g.43877857G>A | CA346671459 | ABCG8 | c.1966G>A (p.Val656Ile) c.1963G>A (p.Val655Ile) c.1978G>A (p.Val660Ile) c.1975G>A (p.Val659Ile) c.1750G>A (p.Val584Ile) n.2468G>A n.2482G>A | gnomAD v4 |
2 | g.43877857G>C | CA346671460 | ABCG8 | c.1966G>C (p.Val656Leu) c.1963G>C (p.Val655Leu) c.1978G>C (p.Val660Leu) c.1975G>C (p.Val659Leu) c.1750G>C (p.Val584Leu) n.2468G>C n.2482G>C | |
2 | g.43877857G>T | CA346671457 | ABCG8 | c.1966G>T (p.Val656Phe) c.1963G>T (p.Val655Phe) c.1978G>T (p.Val660Phe) c.1975G>T (p.Val659Phe) c.1750G>T (p.Val584Phe) n.2468G>T n.2482G>T | |
2 | g.43877858T>A | CA346671461 | ABCG8 | c.1967T>A (p.Val656Asp) c.1964T>A (p.Val655Asp) c.1979T>A (p.Val660Asp) c.1976T>A (p.Val659Asp) c.1751T>A (p.Val584Asp) n.2469T>A n.2483T>A | |
2 | g.43877858T>C | CA346671462 | ABCG8 | c.1967T>C (p.Val656Ala) c.1964T>C (p.Val655Ala) c.1979T>C (p.Val660Ala) c.1976T>C (p.Val659Ala) c.1751T>C (p.Val584Ala) n.2469T>C n.2483T>C | gnomAD v4 |
2 | g.43877858T>G | CA346671463 | ABCG8 | c.1967T>G (p.Val656Gly) c.1964T>G (p.Val655Gly) c.1979T>G (p.Val660Gly) c.1976T>G (p.Val659Gly) c.1751T>G (p.Val584Gly) n.2469T>G n.2483T>G | gnomAD v4 |
2 | g.43877859C>A | CA425908332 | ABCG8 | c.1968C>A (p.Val656=) c.1965C>A (p.Val655=) c.1980C>A (p.Val660=) c.1977C>A (p.Val659=) c.1752C>A (p.Val584=) n.2470C>A n.2484C>A | dbSNP gnomAD v4 |
2 | g.43877859C= | CA2493965165 | ABCG8 | c.1968C= (p.Val656=) c.1965C= (p.Val655=) c.1980C= (p.Val660=) c.1977C= (p.Val659=) c.1752C= (p.Val584=) n.2470C= n.2484C= | |
2 | g.43877859C>G | CA425908333 | ABCG8 | c.1968C>G (p.Val656=) c.1965C>G (p.Val655=) c.1980C>G (p.Val660=) c.1977C>G (p.Val659=) c.1752C>G (p.Val584=) n.2470C>G n.2484C>G | gnomAD v4 |
2 | g.43877859C>T | CA425908334 | ABCG8 | c.1968C>T (p.Val656=) c.1965C>T (p.Val655=) c.1980C>T (p.Val660=) c.1977C>T (p.Val659=) c.1752C>T (p.Val584=) n.2470C>T n.2484C>T | gnomAD v4 |
2 | g.43877860C>A | CA346671464 | ABCG8 | c.1969C>A (p.Leu657Met) c.1966C>A (p.Leu656Met) c.1981C>A (p.Leu661Met) c.1978C>A (p.Leu660Met) c.1753C>A (p.Leu585Met) n.2471C>A n.2485C>A | |
2 | g.43877860C>G | CA346671465 | ABCG8 | c.1969C>G (p.Leu657Val) c.1966C>G (p.Leu656Val) c.1981C>G (p.Leu661Val) c.1978C>G (p.Leu660Val) c.1753C>G (p.Leu585Val) n.2471C>G n.2485C>G | |
2 | g.43877860C>T | CA425908335 | ABCG8 | c.1969C>T (p.Leu657=) c.1966C>T (p.Leu656=) c.1981C>T (p.Leu661=) c.1978C>T (p.Leu660=) c.1753C>T (p.Leu585=) n.2471C>T n.2485C>T | gnomAD v4 |
2 | g.43877861T>A | CA346671466 | ABCG8 | c.1970T>A (p.Leu657Gln) c.1967T>A (p.Leu656Gln) c.1982T>A (p.Leu661Gln) c.1979T>A (p.Leu660Gln) c.1754T>A (p.Leu585Gln) n.2472T>A n.2486T>A | gnomAD v4 |
2 | g.43877861T>C | CA346671467 | ABCG8 | c.1970T>C (p.Leu657Pro) c.1967T>C (p.Leu656Pro) c.1982T>C (p.Leu661Pro) c.1979T>C (p.Leu660Pro) c.1754T>C (p.Leu585Pro) n.2472T>C n.2486T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877861T>G | CA346671468 | ABCG8 | c.1970T>G (p.Leu657Arg) c.1967T>G (p.Leu656Arg) c.1982T>G (p.Leu661Arg) c.1979T>G (p.Leu660Arg) c.1754T>G (p.Leu585Arg) n.2472T>G n.2486T>G | |
2 | g.43877861T= | CA2493965166 | ABCG8 | c.1970T= (p.Leu657=) c.1967T= (p.Leu656=) c.1982T= (p.Leu661=) c.1979T= (p.Leu660=) c.1754T= (p.Leu585=) n.2472T= n.2486T= | |
2 | g.43877862G>A | CA425908336 | ABCG8 | c.1971G>A (p.Leu657=) c.1968G>A (p.Leu656=) c.1983G>A (p.Leu661=) c.1980G>A (p.Leu660=) c.1755G>A (p.Leu585=) n.2473G>A n.2487G>A | gnomAD v4 |
2 | g.43877862G>C | CA425908337 | ABCG8 | c.1971G>C (p.Leu657=) c.1968G>C (p.Leu656=) c.1983G>C (p.Leu661=) c.1980G>C (p.Leu660=) c.1755G>C (p.Leu585=) n.2473G>C n.2487G>C | gnomAD v4 |
2 | g.43877862G>T | CA425908338 | ABCG8 | c.1971G>T (p.Leu657=) c.1968G>T (p.Leu656=) c.1983G>T (p.Leu661=) c.1980G>T (p.Leu660=) c.1755G>T (p.Leu585=) n.2473G>T n.2487G>T | |
2 | g.43877862_43877864dup | CA2658838103 | ABCG8 | c.1971_1973dup (p.Tyr658Ter) c.1968_1970dup (p.Tyr657Ter) c.1983_1985dup (p.Tyr662Ter) c.1980_1982dup (p.Tyr661Ter) c.1755_1757dup (p.Tyr586Ter) n.2473_2475dup n.2487_2489dup | gnomAD v4 |
2 | g.43877863T>A | CA346671469 | ABCG8 | c.1972T>A (p.Tyr658Asn) c.1969T>A (p.Tyr657Asn) c.1984T>A (p.Tyr662Asn) c.1981T>A (p.Tyr661Asn) c.1756T>A (p.Tyr586Asn) n.2474T>A n.2488T>A | |
2 | g.43877863T>C | CA346671470 | ABCG8 | c.1972T>C (p.Tyr658His) c.1969T>C (p.Tyr657His) c.1984T>C (p.Tyr662His) c.1981T>C (p.Tyr661His) c.1756T>C (p.Tyr586His) n.2474T>C n.2488T>C | |
2 | g.43877863T>G | CA346671471 | ABCG8 | c.1972T>G (p.Tyr658Asp) c.1969T>G (p.Tyr657Asp) c.1984T>G (p.Tyr662Asp) c.1981T>G (p.Tyr661Asp) c.1756T>G (p.Tyr586Asp) n.2474T>G n.2488T>G | |
2 | g.43877864A>C | CA346671474 | ABCG8 | c.1973A>C (p.Tyr658Ser) c.1970A>C (p.Tyr657Ser) c.1985A>C (p.Tyr662Ser) c.1982A>C (p.Tyr661Ser) c.1757A>C (p.Tyr586Ser) n.2475A>C n.2489A>C | |
2 | g.43877864A>G | CA346671473 | ABCG8 | c.1973A>G (p.Tyr658Cys) c.1970A>G (p.Tyr657Cys) c.1985A>G (p.Tyr662Cys) c.1982A>G (p.Tyr661Cys) c.1757A>G (p.Tyr586Cys) n.2475A>G n.2489A>G | |
2 | g.43877864A>T | CA346671472 | ABCG8 | c.1973A>T (p.Tyr658Phe) c.1970A>T (p.Tyr657Phe) c.1985A>T (p.Tyr662Phe) c.1982A>T (p.Tyr661Phe) c.1757A>T (p.Tyr586Phe) n.2475A>T n.2489A>T | |
2 | g.43877865C>A | CA346671475 | ABCG8 | c.1974C>A (p.Tyr658Ter) c.1971C>A (p.Tyr657Ter) c.1986C>A (p.Tyr662Ter) c.1983C>A (p.Tyr661Ter) c.1758C>A (p.Tyr586Ter) n.2476C>A n.2490C>A | |
2 | g.43877865C= | CA2493965167 | ABCG8 | c.1974C= (p.Tyr658=) c.1971C= (p.Tyr657=) c.1986C= (p.Tyr662=) c.1983C= (p.Tyr661=) c.1758C= (p.Tyr586=) n.2476C= n.2490C= | |
2 | g.43877865C>G | CA253362 | ABCG8 | c.1974C>G (p.Tyr658Ter) c.1971C>G (p.Tyr657Ter) c.1986C>G (p.Tyr662Ter) c.1983C>G (p.Tyr661Ter) c.1758C>G (p.Tyr586Ter) n.2476C>G n.2490C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877865C>T | CA425908339 | ABCG8 | c.1974C>T (p.Tyr658=) c.1971C>T (p.Tyr657=) c.1986C>T (p.Tyr662=) c.1983C>T (p.Tyr661=) c.1758C>T (p.Tyr586=) n.2476C>T n.2490C>T | gnomAD v4 |
2 | g.43877866T>A | CA346671476 | ABCG8 | c.1975T>A (p.Tyr659Asn) c.1972T>A (p.Tyr658Asn) c.1987T>A (p.Tyr663Asn) c.1984T>A (p.Tyr662Asn) c.1759T>A (p.Tyr587Asn) n.2477T>A n.2491T>A | gnomAD v4 |
2 | g.43877866T>C | CA346671477 | ABCG8 | c.1975T>C (p.Tyr659His) c.1972T>C (p.Tyr658His) c.1987T>C (p.Tyr663His) c.1984T>C (p.Tyr662His) c.1759T>C (p.Tyr587His) n.2477T>C n.2491T>C | gnomAD v4 |
2 | g.43877866T>G | CA346671478 | ABCG8 | c.1975T>G (p.Tyr659Asp) c.1972T>G (p.Tyr658Asp) c.1987T>G (p.Tyr663Asp) c.1984T>G (p.Tyr662Asp) c.1759T>G (p.Tyr587Asp) n.2477T>G n.2491T>G | |
2 | g.43877867A>C | CA346671479 | ABCG8 | c.1976A>C (p.Tyr659Ser) c.1973A>C (p.Tyr658Ser) c.1988A>C (p.Tyr663Ser) c.1985A>C (p.Tyr662Ser) c.1760A>C (p.Tyr587Ser) n.2478A>C n.2492A>C | |
2 | g.43877867A>G | CA346671480 | ABCG8 | c.1976A>G (p.Tyr659Cys) c.1973A>G (p.Tyr658Cys) c.1988A>G (p.Tyr663Cys) c.1985A>G (p.Tyr662Cys) c.1760A>G (p.Tyr587Cys) n.2478A>G n.2492A>G | |
2 | g.43877867A>T | CA346671481 | ABCG8 | c.1976A>T (p.Tyr659Phe) c.1973A>T (p.Tyr658Phe) c.1988A>T (p.Tyr663Phe) c.1985A>T (p.Tyr662Phe) c.1760A>T (p.Tyr587Phe) n.2478A>T n.2492A>T | |
2 | g.43877868C>A | CA346671482 | ABCG8 | c.1977C>A (p.Tyr659Ter) c.1974C>A (p.Tyr658Ter) c.1989C>A (p.Tyr663Ter) c.1986C>A (p.Tyr662Ter) c.1761C>A (p.Tyr587Ter) n.2479C>A n.2493C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877868C= | CA2493965168 | ABCG8 | c.1977C= (p.Tyr659=) c.1974C= (p.Tyr658=) c.1989C= (p.Tyr663=) c.1986C= (p.Tyr662=) c.1761C= (p.Tyr587=) n.2479C= n.2493C= | |
2 | g.43877868C>G | CA346671483 | ABCG8 | c.1977C>G (p.Tyr659Ter) c.1974C>G (p.Tyr658Ter) c.1989C>G (p.Tyr663Ter) c.1986C>G (p.Tyr662Ter) c.1761C>G (p.Tyr587Ter) n.2479C>G n.2493C>G | |
2 | g.43877868C>T | CA46474781 | ABCG8 | c.1977C>T (p.Tyr659=) c.1974C>T (p.Tyr658=) c.1989C>T (p.Tyr663=) c.1986C>T (p.Tyr662=) c.1761C>T (p.Tyr587=) n.2479C>T n.2493C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877869G>A | CA346671484 | ABCG8 | c.1978G>A (p.Val660Met) c.1975G>A (p.Val659Met) c.1990G>A (p.Val664Met) c.1987G>A (p.Val663Met) c.1762G>A (p.Val588Met) n.2480G>A n.2494G>A | |
2 | g.43877869G>C | CA1637731 | ABCG8 | c.1978G>C (p.Val660Leu) c.1975G>C (p.Val659Leu) c.1990G>C (p.Val664Leu) c.1987G>C (p.Val663Leu) c.1762G>C (p.Val588Leu) n.2480G>C n.2494G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877869G= | CA2493965169 | ABCG8 | c.1978G= (p.Val660=) c.1975G= (p.Val659=) c.1990G= (p.Val664=) c.1987G= (p.Val663=) c.1762G= (p.Val588=) n.2480G= n.2494G= | |
2 | g.43877869G>T | CA346671485 | ABCG8 | c.1978G>T (p.Val660Leu) c.1975G>T (p.Val659Leu) c.1990G>T (p.Val664Leu) c.1987G>T (p.Val663Leu) c.1762G>T (p.Val588Leu) n.2480G>T n.2494G>T | |
2 | g.43877870T>A | CA346671487 | ABCG8 | c.1979T>A (p.Val660Glu) c.1976T>A (p.Val659Glu) c.1991T>A (p.Val664Glu) c.1988T>A (p.Val663Glu) c.1763T>A (p.Val588Glu) n.2481T>A n.2495T>A | |
2 | g.43877870T>C | CA346671488 | ABCG8 | c.1979T>C (p.Val660Ala) c.1976T>C (p.Val659Ala) c.1991T>C (p.Val664Ala) c.1988T>C (p.Val663Ala) c.1763T>C (p.Val588Ala) n.2481T>C n.2495T>C | |
2 | g.43877870T>G | CA346671486 | ABCG8 | c.1979T>G (p.Val660Gly) c.1976T>G (p.Val659Gly) c.1991T>G (p.Val664Gly) c.1988T>G (p.Val663Gly) c.1763T>G (p.Val588Gly) n.2481T>G n.2495T>G | |
2 | g.43877871G>A | CA425908340 | ABCG8 | c.1980G>A (p.Val660=) c.1977G>A (p.Val659=) c.1992G>A (p.Val664=) c.1989G>A (p.Val663=) c.1764G>A (p.Val588=) n.2482G>A n.2496G>A | |
2 | g.43877871G>C | CA425908341 | ABCG8 | c.1980G>C (p.Val660=) c.1977G>C (p.Val659=) c.1992G>C (p.Val664=) c.1989G>C (p.Val663=) c.1764G>C (p.Val588=) n.2482G>C n.2496G>C | |
2 | g.43877871G>T | CA425908342 | ABCG8 | c.1980G>T (p.Val660=) c.1977G>T (p.Val659=) c.1992G>T (p.Val664=) c.1989G>T (p.Val663=) c.1764G>T (p.Val588=) n.2482G>T n.2496G>T | |
2 | g.43877872T>A | CA346671489 | ABCG8 | c.1981T>A (p.Ser661Thr) c.1978T>A (p.Ser660Thr) c.1993T>A (p.Ser665Thr) c.1990T>A (p.Ser664Thr) c.1765T>A (p.Ser589Thr) n.2483T>A n.2497T>A | |
2 | g.43877872T>C | CA346671491 | ABCG8 | c.1981T>C (p.Ser661Pro) c.1978T>C (p.Ser660Pro) c.1993T>C (p.Ser665Pro) c.1990T>C (p.Ser664Pro) c.1765T>C (p.Ser589Pro) n.2483T>C n.2497T>C | |
2 | g.43877872T>G | CA346671490 | ABCG8 | c.1981T>G (p.Ser661Ala) c.1978T>G (p.Ser660Ala) c.1993T>G (p.Ser665Ala) c.1990T>G (p.Ser664Ala) c.1765T>G (p.Ser589Ala) n.2483T>G n.2497T>G | |
2 | g.43877873C>A | CA346671492 | ABCG8 | c.1982C>A (p.Ser661Tyr) c.1979C>A (p.Ser660Tyr) c.1994C>A (p.Ser665Tyr) c.1991C>A (p.Ser664Tyr) c.1766C>A (p.Ser589Tyr) n.2484C>A n.2498C>A | |
2 | g.43877873C>G | CA346671494 | ABCG8 | c.1982C>G (p.Ser661Cys) c.1979C>G (p.Ser660Cys) c.1994C>G (p.Ser665Cys) c.1991C>G (p.Ser664Cys) c.1766C>G (p.Ser589Cys) n.2484C>G n.2498C>G | |
2 | g.43877873C>T | CA346671493 | ABCG8 | c.1982C>T (p.Ser661Phe) c.1979C>T (p.Ser660Phe) c.1994C>T (p.Ser665Phe) c.1991C>T (p.Ser664Phe) c.1766C>T (p.Ser589Phe) n.2484C>T n.2498C>T | |
2 | g.43877874C>A | CA425908343 | ABCG8 | c.1983C>A (p.Ser661=) c.1980C>A (p.Ser660=) c.1995C>A (p.Ser665=) c.1992C>A (p.Ser664=) c.1767C>A (p.Ser589=) n.2485C>A n.2499C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.43877874C= | CA2493965170 | ABCG8 | c.1983C= (p.Ser661=) c.1980C= (p.Ser660=) c.1995C= (p.Ser665=) c.1992C= (p.Ser664=) c.1767C= (p.Ser589=) n.2485C= n.2499C= | |
2 | g.43877874C>G | CA425908344 | ABCG8 | c.1983C>G (p.Ser661=) c.1980C>G (p.Ser660=) c.1995C>G (p.Ser665=) c.1992C>G (p.Ser664=) c.1767C>G (p.Ser589=) n.2485C>G n.2499C>G | |
2 | g.43877874C>T | CA1637732 | ABCG8 | c.1983C>T (p.Ser661=) c.1980C>T (p.Ser660=) c.1995C>T (p.Ser665=) c.1992C>T (p.Ser664=) c.1767C>T (p.Ser589=) n.2485C>T n.2499C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877875T>A | CA346671496 | ABCG8 | c.1984T>A (p.Leu662Ile) c.1981T>A (p.Leu661Ile) c.1996T>A (p.Leu666Ile) c.1993T>A (p.Leu665Ile) c.1768T>A (p.Leu590Ile) n.2486T>A n.2500T>A | |
2 | g.43877875T>C | CA425908345 | ABCG8 | c.1984T>C (p.Leu662=) c.1981T>C (p.Leu661=) c.1996T>C (p.Leu666=) c.1993T>C (p.Leu665=) c.1768T>C (p.Leu590=) n.2486T>C n.2500T>C | |
2 | g.43877875T>G | CA346671495 | ABCG8 | c.1984T>G (p.Leu662Val) c.1981T>G (p.Leu661Val) c.1996T>G (p.Leu666Val) c.1993T>G (p.Leu665Val) c.1768T>G (p.Leu590Val) n.2486T>G n.2500T>G | |
2 | g.43877876T>A | CA346671497 | ABCG8 | c.1985T>A (p.Leu662Ter) c.1982T>A (p.Leu661Ter) c.1997T>A (p.Leu666Ter) c.1994T>A (p.Leu665Ter) c.1769T>A (p.Leu590Ter) n.2487T>A n.2501T>A | |
2 | g.43877876T>C | CA346671498 | ABCG8 | c.1985T>C (p.Leu662Ser) c.1982T>C (p.Leu661Ser) c.1997T>C (p.Leu666Ser) c.1994T>C (p.Leu665Ser) c.1769T>C (p.Leu590Ser) n.2487T>C n.2501T>C | |
2 | g.43877876T>G | CA346671499 | ABCG8 | c.1985T>G (p.Leu662Ter) c.1982T>G (p.Leu661Ter) c.1997T>G (p.Leu666Ter) c.1994T>G (p.Leu665Ter) c.1769T>G (p.Leu590Ter) n.2487T>G n.2501T>G | |
2 | g.43877877A>C | CA346671500 | ABCG8 | c.1986A>C (p.Leu662Phe) c.1983A>C (p.Leu661Phe) c.1998A>C (p.Leu666Phe) c.1995A>C (p.Leu665Phe) c.1770A>C (p.Leu590Phe) n.2488A>C n.2502A>C | |
2 | g.43877877A>G | CA425908346 | ABCG8 | c.1986A>G (p.Leu662=) c.1983A>G (p.Leu661=) c.1998A>G (p.Leu666=) c.1995A>G (p.Leu665=) c.1770A>G (p.Leu590=) n.2488A>G n.2502A>G | |
2 | g.43877877A>T | CA346671501 | ABCG8 | c.1986A>T (p.Leu662Phe) c.1983A>T (p.Leu661Phe) c.1998A>T (p.Leu666Phe) c.1995A>T (p.Leu665Phe) c.1770A>T (p.Leu590Phe) n.2488A>T n.2502A>T | |
2 | g.43877878A= | CA2493965171 | ABCG8 | c.1987A= (p.Arg663=) c.1984A= (p.Arg662=) c.1999A= (p.Arg667=) c.1996A= (p.Arg666=) c.1771A= (p.Arg591=) n.2489A= n.2503A= | |
2 | g.43877878A>C | CA425908347 | ABCG8 | c.1987A>C (p.Arg663=) c.1984A>C (p.Arg662=) c.1999A>C (p.Arg667=) c.1996A>C (p.Arg666=) c.1771A>C (p.Arg591=) n.2489A>C n.2503A>C | |
2 | g.43877878A>G | CA1637733 | ABCG8 | c.1987A>G (p.Arg663Gly) c.1984A>G (p.Arg662Gly) c.1999A>G (p.Arg667Gly) c.1996A>G (p.Arg666Gly) c.1771A>G (p.Arg591Gly) n.2489A>G n.2503A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877878A>T | CA346671502 | ABCG8 | c.1987A>T (p.Arg663Trp) c.1984A>T (p.Arg662Trp) c.1999A>T (p.Arg667Trp) c.1996A>T (p.Arg666Trp) c.1771A>T (p.Arg591Trp) n.2489A>T n.2503A>T | |
2 | g.43877879G>A | CA346671503 | ABCG8 | c.1988G>A (p.Arg663Lys) c.1985G>A (p.Arg662Lys) c.2000G>A (p.Arg667Lys) c.1997G>A (p.Arg666Lys) c.1772G>A (p.Arg591Lys) n.2490G>A n.2504G>A | |
2 | g.43877879G>C | CA346671504 | ABCG8 | c.1988G>C (p.Arg663Thr) c.1985G>C (p.Arg662Thr) c.2000G>C (p.Arg667Thr) c.1997G>C (p.Arg666Thr) c.1772G>C (p.Arg591Thr) n.2490G>C n.2504G>C | |
2 | g.43877879G>T | CA346671505 | ABCG8 | c.1988G>T (p.Arg663Met) c.1985G>T (p.Arg662Met) c.2000G>T (p.Arg667Met) c.1997G>T (p.Arg666Met) c.1772G>T (p.Arg591Met) n.2490G>T n.2504G>T | |
2 | g.43877880G>A | CA425908348 | ABCG8 | c.1989G>A (p.Arg663=) c.1986G>A (p.Arg662=) c.2001G>A (p.Arg667=) c.1998G>A (p.Arg666=) c.1773G>A (p.Arg591=) n.2491G>A n.2505G>A | |
2 | g.43877880G>C | CA346671506 | ABCG8 | c.1989G>C (p.Arg663Ser) c.1986G>C (p.Arg662Ser) c.2001G>C (p.Arg667Ser) c.1998G>C (p.Arg666Ser) c.1773G>C (p.Arg591Ser) n.2491G>C n.2505G>C | |
2 | g.43877880G= | CA2493965172 | ABCG8 | c.1989G= (p.Arg663=) c.1986G= (p.Arg662=) c.2001G= (p.Arg667=) c.1998G= (p.Arg666=) c.1773G= (p.Arg591=) n.2491G= n.2505G= | |
2 | g.43877880G>T | CA346671507 | ABCG8 | c.1989G>T (p.Arg663Ser) c.1986G>T (p.Arg662Ser) c.2001G>T (p.Arg667Ser) c.1998G>T (p.Arg666Ser) c.1773G>T (p.Arg591Ser) n.2491G>T n.2505G>T | dbSNP |
2 | g.43877881T>A | CA346671508 | ABCG8 | c.1990T>A (p.Phe664Ile) c.1987T>A (p.Phe663Ile) c.2002T>A (p.Phe668Ile) c.1999T>A (p.Phe667Ile) c.1774T>A (p.Phe592Ile) n.2492T>A n.2506T>A | |
2 | g.43877881T>C | CA346671510 | ABCG8 | c.1990T>C (p.Phe664Leu) c.1987T>C (p.Phe663Leu) c.2002T>C (p.Phe668Leu) c.1999T>C (p.Phe667Leu) c.1774T>C (p.Phe592Leu) n.2492T>C n.2506T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877881T>G | CA346671509 | ABCG8 | c.1990T>G (p.Phe664Val) c.1987T>G (p.Phe663Val) c.2002T>G (p.Phe668Val) c.1999T>G (p.Phe667Val) c.1774T>G (p.Phe592Val) n.2492T>G n.2506T>G | |
2 | g.43877881T= | CA2493965173 | ABCG8 | c.1990T= (p.Phe664=) c.1987T= (p.Phe663=) c.2002T= (p.Phe668=) c.1999T= (p.Phe667=) c.1774T= (p.Phe592=) n.2492T= n.2506T= | |
2 | g.43877882T>A | CA346671511 | ABCG8 | c.1991T>A (p.Phe664Tyr) c.1988T>A (p.Phe663Tyr) c.2003T>A (p.Phe668Tyr) c.2000T>A (p.Phe667Tyr) c.1775T>A (p.Phe592Tyr) n.2493T>A n.2507T>A | |
2 | g.43877882T>C | CA346671512 | ABCG8 | c.1991T>C (p.Phe664Ser) c.1988T>C (p.Phe663Ser) c.2003T>C (p.Phe668Ser) c.2000T>C (p.Phe667Ser) c.1775T>C (p.Phe592Ser) n.2493T>C n.2507T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877882T>G | CA346671514 | ABCG8 | c.1991T>G (p.Phe664Cys) c.1988T>G (p.Phe663Cys) c.2003T>G (p.Phe668Cys) c.2000T>G (p.Phe667Cys) c.1775T>G (p.Phe592Cys) n.2493T>G n.2507T>G | gnomAD v4 |
2 | g.43877882T= | CA2493965174 | ABCG8 | c.1991T= (p.Phe664=) c.1988T= (p.Phe663=) c.2003T= (p.Phe668=) c.2000T= (p.Phe667=) c.1775T= (p.Phe592=) n.2493T= n.2507T= | |
2 | g.43877883C>A | CA346671516 | ABCG8 | c.1992C>A (p.Phe664Leu) c.1989C>A (p.Phe663Leu) c.2004C>A (p.Phe668Leu) c.2001C>A (p.Phe667Leu) c.1776C>A (p.Phe592Leu) n.2494C>A n.2508C>A | |
2 | g.43877883C>G | CA346671518 | ABCG8 | c.1992C>G (p.Phe664Leu) c.1989C>G (p.Phe663Leu) c.2004C>G (p.Phe668Leu) c.2001C>G (p.Phe667Leu) c.1776C>G (p.Phe592Leu) n.2494C>G n.2508C>G | |
2 | g.43877883C>T | CA425908350 | ABCG8 | c.1992C>T (p.Phe664=) c.1989C>T (p.Phe663=) c.2004C>T (p.Phe668=) c.2001C>T (p.Phe667=) c.1776C>T (p.Phe592=) n.2494C>T n.2508C>T | gnomAD v4 |
2 | g.43877884A= | CA2493965175 | ABCG8 | c.1993A= (p.Ile665=) c.1990A= (p.Ile664=) c.2005A= (p.Ile669=) c.2002A= (p.Ile668=) c.1777A= (p.Ile593=) n.2495A= n.2509A= | |
2 | g.43877884A>C | CA346671520 | ABCG8 | c.1993A>C (p.Ile665Leu) c.1990A>C (p.Ile664Leu) c.2005A>C (p.Ile669Leu) c.2002A>C (p.Ile668Leu) c.1777A>C (p.Ile593Leu) n.2495A>C n.2509A>C | dbSNP |
2 | g.43877884A>G | CA346671522 | ABCG8 | c.1993A>G (p.Ile665Val) c.1990A>G (p.Ile664Val) c.2005A>G (p.Ile669Val) c.2002A>G (p.Ile668Val) c.1777A>G (p.Ile593Val) n.2495A>G n.2509A>G | |
2 | g.43877884A>T | CA346671524 | ABCG8 | c.1993A>T (p.Ile665Phe) c.1990A>T (p.Ile664Phe) c.2005A>T (p.Ile669Phe) c.2002A>T (p.Ile668Phe) c.1777A>T (p.Ile593Phe) n.2495A>T n.2509A>T | |
2 | g.43877885T>A | CA346671526 | ABCG8 | c.1994T>A (p.Ile665Asn) c.1991T>A (p.Ile664Asn) c.2006T>A (p.Ile669Asn) c.2003T>A (p.Ile668Asn) c.1778T>A (p.Ile593Asn) n.2496T>A n.2510T>A | |
2 | g.43877885T>C | CA346671528 | ABCG8 | c.1994T>C (p.Ile665Thr) c.1991T>C (p.Ile664Thr) c.2006T>C (p.Ile669Thr) c.2003T>C (p.Ile668Thr) c.1778T>C (p.Ile593Thr) n.2496T>C n.2510T>C | gnomAD v4 |
2 | g.43877885T>G | CA46474804 | ABCG8 | c.1994T>G (p.Ile665Ser) c.1991T>G (p.Ile664Ser) c.2006T>G (p.Ile669Ser) c.2003T>G (p.Ile668Ser) c.1778T>G (p.Ile593Ser) n.2496T>G n.2510T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877885T= | CA2493965176 | ABCG8 | c.1994T= (p.Ile665=) c.1991T= (p.Ile664=) c.2006T= (p.Ile669=) c.2003T= (p.Ile668=) c.1778T= (p.Ile593=) n.2496T= n.2510T= | |
2 | g.43877886C>A | CA425908351 | ABCG8 | c.1995C>A (p.Ile665=) c.1992C>A (p.Ile664=) c.2007C>A (p.Ile669=) c.2004C>A (p.Ile668=) c.1779C>A (p.Ile593=) n.2497C>A n.2511C>A | |
2 | g.43877886C>G | CA346671530 | ABCG8 | c.1995C>G (p.Ile665Met) c.1992C>G (p.Ile664Met) c.2007C>G (p.Ile669Met) c.2004C>G (p.Ile668Met) c.1779C>G (p.Ile593Met) n.2497C>G n.2511C>G | gnomAD v4 |
2 | g.43877886C>T | CA425908352 | ABCG8 | c.1995C>T (p.Ile665=) c.1992C>T (p.Ile664=) c.2007C>T (p.Ile669=) c.2004C>T (p.Ile668=) c.1779C>T (p.Ile593=) n.2497C>T n.2511C>T | |
2 | g.43877887A>C | CA346671536 | ABCG8 | c.1996A>C (p.Lys666Gln) c.1993A>C (p.Lys665Gln) c.2008A>C (p.Lys670Gln) c.2005A>C (p.Lys669Gln) c.1780A>C (p.Lys594Gln) n.2498A>C n.2512A>C | gnomAD v4 |
2 | g.43877887A>G | CA346671533 | ABCG8 | c.1996A>G (p.Lys666Glu) c.1993A>G (p.Lys665Glu) c.2008A>G (p.Lys670Glu) c.2005A>G (p.Lys669Glu) c.1780A>G (p.Lys594Glu) n.2498A>G n.2512A>G | |
2 | g.43877887A>T | CA346671534 | ABCG8 | c.1996A>T (p.Lys666Ter) c.1993A>T (p.Lys665Ter) c.2008A>T (p.Lys670Ter) c.2005A>T (p.Lys669Ter) c.1780A>T (p.Lys594Ter) n.2498A>T n.2512A>T | |
2 | g.43877888A>C | CA346671538 | ABCG8 | c.1997A>C (p.Lys666Thr) c.1994A>C (p.Lys665Thr) c.2009A>C (p.Lys670Thr) c.2006A>C (p.Lys669Thr) c.1781A>C (p.Lys594Thr) n.2499A>C n.2513A>C | |
2 | g.43877888A>G | CA346671540 | ABCG8 | c.1997A>G (p.Lys666Arg) c.1994A>G (p.Lys665Arg) c.2009A>G (p.Lys670Arg) c.2006A>G (p.Lys669Arg) c.1781A>G (p.Lys594Arg) n.2499A>G n.2513A>G | |
2 | g.43877888A>T | CA346671541 | ABCG8 | c.1997A>T (p.Lys666Ile) c.1994A>T (p.Lys665Ile) c.2009A>T (p.Lys670Ile) c.2006A>T (p.Lys669Ile) c.1781A>T (p.Lys594Ile) n.2499A>T n.2513A>T | |
2 | g.43877889A>C | CA346671543 | ABCG8 | c.1998A>C (p.Lys666Asn) c.1995A>C (p.Lys665Asn) c.2010A>C (p.Lys670Asn) c.2007A>C (p.Lys669Asn) c.1782A>C (p.Lys594Asn) n.2500A>C n.2514A>C | |
2 | g.43877889A>G | CA425908353 | ABCG8 | c.1998A>G (p.Lys666=) c.1995A>G (p.Lys665=) c.2010A>G (p.Lys670=) c.2007A>G (p.Lys669=) c.1782A>G (p.Lys594=) n.2500A>G n.2514A>G | |
2 | g.43877889A>T | CA346671545 | ABCG8 | c.1998A>T (p.Lys666Asn) c.1995A>T (p.Lys665Asn) c.2010A>T (p.Lys670Asn) c.2007A>T (p.Lys669Asn) c.1782A>T (p.Lys594Asn) n.2500A>T n.2514A>T | |
2 | g.43877890C>A | CA346671547 | ABCG8 | c.1999C>A (p.Gln667Lys) c.1996C>A (p.Gln666Lys) c.2011C>A (p.Gln671Lys) c.2008C>A (p.Gln670Lys) c.1783C>A (p.Gln595Lys) n.2501C>A n.2515C>A | |
2 | g.43877890C>G | CA346671549 | ABCG8 | c.1999C>G (p.Gln667Glu) c.1996C>G (p.Gln666Glu) c.2011C>G (p.Gln671Glu) c.2008C>G (p.Gln670Glu) c.1783C>G (p.Gln595Glu) n.2501C>G n.2515C>G | |
2 | g.43877890C>T | CA346671551 | ABCG8 | c.1999C>T (p.Gln667Ter) c.1996C>T (p.Gln666Ter) c.2011C>T (p.Gln671Ter) c.2008C>T (p.Gln670Ter) c.1783C>T (p.Gln595Ter) n.2501C>T n.2515C>T | |
2 | g.43877891A>C | CA346671553 | ABCG8 | c.2000A>C (p.Gln667Pro) c.1997A>C (p.Gln666Pro) c.2012A>C (p.Gln671Pro) c.2009A>C (p.Gln670Pro) c.1784A>C (p.Gln595Pro) n.2502A>C n.2516A>C | |
2 | g.43877891A>G | CA346671554 | ABCG8 | c.2000A>G (p.Gln667Arg) c.1997A>G (p.Gln666Arg) c.2012A>G (p.Gln671Arg) c.2009A>G (p.Gln670Arg) c.1784A>G (p.Gln595Arg) n.2502A>G n.2516A>G | |
2 | g.43877891A>T | CA346671556 | ABCG8 | c.2000A>T (p.Gln667Leu) c.1997A>T (p.Gln666Leu) c.2012A>T (p.Gln671Leu) c.2009A>T (p.Gln670Leu) c.1784A>T (p.Gln595Leu) n.2502A>T n.2516A>T | |
2 | g.43877892G>A | CA425908354 | ABCG8 | c.2001G>A (p.Gln667=) c.1998G>A (p.Gln666=) c.2013G>A (p.Gln671=) c.2010G>A (p.Gln670=) c.1785G>A (p.Gln595=) n.2503G>A n.2517G>A | |
2 | g.43877892G>C | CA346671558 | ABCG8 | c.2001G>C (p.Gln667His) c.1998G>C (p.Gln666His) c.2013G>C (p.Gln671His) c.2010G>C (p.Gln670His) c.1785G>C (p.Gln595His) n.2503G>C n.2517G>C | |
2 | g.43877892G>T | CA346671560 | ABCG8 | c.2001G>T (p.Gln667His) c.1998G>T (p.Gln666His) c.2013G>T (p.Gln671His) c.2010G>T (p.Gln670His) c.1785G>T (p.Gln595His) n.2503G>T n.2517G>T | COSMIC |
2 | g.43877893A>C | CA346671562 | ABCG8 | c.2002A>C (p.Lys668Gln) c.1999A>C (p.Lys667Gln) c.2014A>C (p.Lys672Gln) c.2011A>C (p.Lys671Gln) c.1786A>C (p.Lys596Gln) n.2504A>C n.2518A>C | |
2 | g.43877893A>G | CA346671564 | ABCG8 | c.2002A>G (p.Lys668Glu) c.1999A>G (p.Lys667Glu) c.2014A>G (p.Lys672Glu) c.2011A>G (p.Lys671Glu) c.1786A>G (p.Lys596Glu) n.2504A>G n.2518A>G | |
2 | g.43877893A>T | CA346671565 | ABCG8 | c.2002A>T (p.Lys668Ter) c.1999A>T (p.Lys667Ter) c.2014A>T (p.Lys672Ter) c.2011A>T (p.Lys671Ter) c.1786A>T (p.Lys596Ter) n.2504A>T n.2518A>T | |
2 | g.43877894A>C | CA346671566 | ABCG8 | c.2003A>C (p.Lys668Thr) c.2000A>C (p.Lys667Thr) c.2015A>C (p.Lys672Thr) c.2012A>C (p.Lys671Thr) c.1787A>C (p.Lys596Thr) n.2505A>C n.2519A>C | |
2 | g.43877894A>G | CA346671568 | ABCG8 | c.2003A>G (p.Lys668Arg) c.2000A>G (p.Lys667Arg) c.2015A>G (p.Lys672Arg) c.2012A>G (p.Lys671Arg) c.1787A>G (p.Lys596Arg) n.2505A>G n.2519A>G | |
2 | g.43877894A>T | CA346671570 | ABCG8 | c.2003A>T (p.Lys668Ile) c.2000A>T (p.Lys667Ile) c.2015A>T (p.Lys672Ile) c.2012A>T (p.Lys671Ile) c.1787A>T (p.Lys596Ile) n.2505A>T n.2519A>T | |
2 | g.43877895A= | CA2493965177 | ABCG8 | c.2004A= (p.Lys668=) c.2001A= (p.Lys667=) c.2016A= (p.Lys672=) c.2013A= (p.Lys671=) c.1788A= (p.Lys596=) n.2506A= n.2520A= | |
2 | g.43877895A>C | CA346671572 | ABCG8 | c.2004A>C (p.Lys668Asn) c.2001A>C (p.Lys667Asn) c.2016A>C (p.Lys672Asn) c.2013A>C (p.Lys671Asn) c.1788A>C (p.Lys596Asn) n.2506A>C n.2520A>C | |
2 | g.43877895A>G | CA425908355 | ABCG8 | c.2004A>G (p.Lys668=) c.2001A>G (p.Lys667=) c.2016A>G (p.Lys672=) c.2013A>G (p.Lys671=) c.1788A>G (p.Lys596=) n.2506A>G n.2520A>G | dbSNP |
2 | g.43877895A>T | CA346671573 | ABCG8 | c.2004A>T (p.Lys668Asn) c.2001A>T (p.Lys667Asn) c.2016A>T (p.Lys672Asn) c.2013A>T (p.Lys671Asn) c.1788A>T (p.Lys596Asn) n.2506A>T n.2520A>T | |
2 | g.43877896C>A | CA346671576 | ABCG8 | c.2005C>A (p.Pro669Thr) c.2002C>A (p.Pro668Thr) c.2017C>A (p.Pro673Thr) c.2014C>A (p.Pro672Thr) c.1789C>A (p.Pro597Thr) n.2507C>A n.2521C>A | |
2 | g.43877896C= | CA2493965178 | ABCG8 | c.2005C= (p.Pro669=) c.2002C= (p.Pro668=) c.2017C= (p.Pro673=) c.2014C= (p.Pro672=) c.1789C= (p.Pro597=) n.2507C= n.2521C= | |
2 | g.43877896C>G | CA346671578 | ABCG8 | c.2005C>G (p.Pro669Ala) c.2002C>G (p.Pro668Ala) c.2017C>G (p.Pro673Ala) c.2014C>G (p.Pro672Ala) c.1789C>G (p.Pro597Ala) n.2507C>G n.2521C>G | dbSNP |
2 | g.43877896C>T | CA346671579 | ABCG8 | c.2005C>T (p.Pro669Ser) c.2002C>T (p.Pro668Ser) c.2017C>T (p.Pro673Ser) c.2014C>T (p.Pro672Ser) c.1789C>T (p.Pro597Ser) n.2507C>T n.2521C>T | |
2 | g.43877897C>A | CA346671585 | ABCG8 | c.2006C>A (p.Pro669Gln) c.2003C>A (p.Pro668Gln) c.2018C>A (p.Pro673Gln) c.2015C>A (p.Pro672Gln) c.1790C>A (p.Pro597Gln) n.2508C>A n.2522C>A | |
2 | g.43877897C>G | CA346671583 | ABCG8 | c.2006C>G (p.Pro669Arg) c.2003C>G (p.Pro668Arg) c.2018C>G (p.Pro673Arg) c.2015C>G (p.Pro672Arg) c.1790C>G (p.Pro597Arg) n.2508C>G n.2522C>G | |
2 | g.43877897C>T | CA346671581 | ABCG8 | c.2006C>T (p.Pro669Leu) c.2003C>T (p.Pro668Leu) c.2018C>T (p.Pro673Leu) c.2015C>T (p.Pro672Leu) c.1790C>T (p.Pro597Leu) n.2508C>T n.2522C>T | |
2 | g.43877901_43877905del | CA2576953932 | ABCG8 | c.2010_2014del (p.Ser670ArgfsTer?) c.2007_2011del (p.Ser669ArgfsTer?) c.2022_2026del (p.Ser674ArgfsTer?) c.2019_2023del (p.Ser673ArgfsTer?) c.1794_1798del (p.Ser598ArgfsTer?) n.2512_2516del n.2526_2530del | gnomAD v4 |
2 | g.43877898A>C | CA425908357 | ABCG8 | c.2007A>C (p.Pro669=) c.2004A>C (p.Pro668=) c.2019A>C (p.Pro673=) c.2016A>C (p.Pro672=) c.1791A>C (p.Pro597=) n.2509A>C n.2523A>C | |
2 | g.43877898A>G | CA425908358 | ABCG8 | c.2007A>G (p.Pro669=) c.2004A>G (p.Pro668=) c.2019A>G (p.Pro673=) c.2016A>G (p.Pro672=) c.1791A>G (p.Pro597=) n.2509A>G n.2523A>G | gnomAD v4 |
2 | g.43877898A>T | CA425908359 | ABCG8 | c.2007A>T (p.Pro669=) c.2004A>T (p.Pro668=) c.2019A>T (p.Pro673=) c.2016A>T (p.Pro672=) c.1791A>T (p.Pro597=) n.2509A>T n.2523A>T | |
2 | g.43877899del | CA2658838104 | ABCG8 | c.2008del (p.Ser670ValfsTer17) c.2005del (p.Ser669ValfsTer17) c.2020del (p.Ser674ValfsTer17) c.2017del (p.Ser673ValfsTer17) c.1792del (p.Ser598ValfsTer17) n.2510del n.2524del | gnomAD v4 |
2 | g.43877899A>C | CA346671586 | ABCG8 | c.2008A>C (p.Ser670Arg) c.2005A>C (p.Ser669Arg) c.2020A>C (p.Ser674Arg) c.2017A>C (p.Ser673Arg) c.1792A>C (p.Ser598Arg) n.2510A>C n.2524A>C | |
2 | g.43877899A>G | CA346671589 | ABCG8 | c.2008A>G (p.Ser670Gly) c.2005A>G (p.Ser669Gly) c.2020A>G (p.Ser674Gly) c.2017A>G (p.Ser673Gly) c.1792A>G (p.Ser598Gly) n.2510A>G n.2524A>G | |
2 | g.43877899A>T | CA346671587 | ABCG8 | c.2008A>T (p.Ser670Cys) c.2005A>T (p.Ser669Cys) c.2020A>T (p.Ser674Cys) c.2017A>T (p.Ser673Cys) c.1792A>T (p.Ser598Cys) n.2510A>T n.2524A>T | |
2 | g.43877899_43877900insACACACCCAACACA | CA2749705971 | ABCG8 | c.2008_2009insACACACCCAACACA (p.Ser670AsnfsTer22) c.2005_2006insACACACCCAACACA (p.Ser669AsnfsTer22) c.2020_2021insACACACCCAACACA (p.Ser674AsnfsTer22) c.2017_2018insACACACCCAACACA (p.Ser673AsnfsTer22) c.1792_1793insACACACCCAACACA (p.Ser598AsnfsTer22) n.2510_2511insACACACCCAACACA n.2524_2525insACACACCCAACACA | |
2 | g.43877900G>A | CA346671591 | ABCG8 | c.2009G>A (p.Ser670Asn) c.2006G>A (p.Ser669Asn) c.2021G>A (p.Ser674Asn) c.2018G>A (p.Ser673Asn) c.1793G>A (p.Ser598Asn) n.2511G>A n.2525G>A | |
2 | g.43877900G>C | CA346671593 | ABCG8 | c.2009G>C (p.Ser670Thr) c.2006G>C (p.Ser669Thr) c.2021G>C (p.Ser674Thr) c.2018G>C (p.Ser673Thr) c.1793G>C (p.Ser598Thr) n.2511G>C n.2525G>C | |
2 | g.43877900G>T | CA346671594 | ABCG8 | c.2009G>T (p.Ser670Ile) c.2006G>T (p.Ser669Ile) c.2021G>T (p.Ser674Ile) c.2018G>T (p.Ser673Ile) c.1793G>T (p.Ser598Ile) n.2511G>T n.2525G>T | |
2 | g.43877901del | CA2749705972 | ABCG8 | c.2010del (p.Gln671LysfsTer16) c.2007del (p.Gln670LysfsTer16) c.2022del (p.Gln675LysfsTer16) c.2019del (p.Gln674LysfsTer16) c.1794del (p.Gln599LysfsTer16) n.2512del n.2526del | |
2 | g.43877901T>A | CA346671595 | ABCG8 | c.2010T>A (p.Ser670Arg) c.2007T>A (p.Ser669Arg) c.2022T>A (p.Ser674Arg) c.2019T>A (p.Ser673Arg) c.1794T>A (p.Ser598Arg) n.2512T>A n.2526T>A | |
2 | g.43877901T>C | CA425908360 | ABCG8 | c.2010T>C (p.Ser670=) c.2007T>C (p.Ser669=) c.2022T>C (p.Ser674=) c.2019T>C (p.Ser673=) c.1794T>C (p.Ser598=) n.2512T>C n.2526T>C | |
2 | g.43877901T>G | CA346671597 | ABCG8 | c.2010T>G (p.Ser670Arg) c.2007T>G (p.Ser669Arg) c.2022T>G (p.Ser674Arg) c.2019T>G (p.Ser673Arg) c.1794T>G (p.Ser598Arg) n.2512T>G n.2526T>G | |
2 | g.43877901_43877902insGATT | CA2658838105 | ABCG8 | c.2010_2011insGATT (p.Gln671AspfsTer?) c.2007_2008insGATT (p.Gln670AspfsTer?) c.2022_2023insGATT (p.Gln675AspfsTer?) c.2019_2020insGATT (p.Gln674AspfsTer?) c.1794_1795insGATT (p.Gln599AspfsTer?) n.2512_2513insGATT n.2526_2527insGATT | gnomAD v4 |
2 | g.43877901_43877916del | CA2658838106 | ABCG8 | c.2010_*3del (n.[c.2010_*3del;Ser670ArgfsTer12]) c.2007_*3del (n.[c.2007_*3del;Ser669ArgfsTer12]) c.2022_*3del (n.[c.2022_*3del;Ser674ArgfsTer12]) c.2019_*3del (n.[c.2019_*3del;Ser673ArgfsTer12]) c.1794_*3del (n.[c.1794_*3del;Ser598ArgfsTer12]) n.2512_2527del n.2526_2541del | gnomAD v4 |
2 | g.43877902C>A | CA346671598 | ABCG8 | c.2011C>A (p.Gln671Lys) c.2008C>A (p.Gln670Lys) c.2023C>A (p.Gln675Lys) c.2020C>A (p.Gln674Lys) c.1795C>A (p.Gln599Lys) n.2513C>A n.2527C>A | |
2 | g.43877902C>G | CA346671600 | ABCG8 | c.2011C>G (p.Gln671Glu) c.2008C>G (p.Gln670Glu) c.2023C>G (p.Gln675Glu) c.2020C>G (p.Gln674Glu) c.1795C>G (p.Gln599Glu) n.2513C>G n.2527C>G | gnomAD v4 |
2 | g.43877902C>T | CA346671601 | ABCG8 | c.2011C>T (p.Gln671Ter) c.2008C>T (p.Gln670Ter) c.2023C>T (p.Gln675Ter) c.2020C>T (p.Gln674Ter) c.1795C>T (p.Gln599Ter) n.2513C>T n.2527C>T | |
2 | g.43877903A>C | CA346671604 | ABCG8 | c.2012A>C (p.Gln671Pro) c.2009A>C (p.Gln670Pro) c.2024A>C (p.Gln675Pro) c.2021A>C (p.Gln674Pro) c.1796A>C (p.Gln599Pro) n.2514A>C n.2528A>C | |
2 | g.43877903A>G | CA346671606 | ABCG8 | c.2012A>G (p.Gln671Arg) c.2009A>G (p.Gln670Arg) c.2024A>G (p.Gln675Arg) c.2021A>G (p.Gln674Arg) c.1796A>G (p.Gln599Arg) n.2514A>G n.2528A>G | |
2 | g.43877903A>T | CA346671607 | ABCG8 | c.2012A>T (p.Gln671Leu) c.2009A>T (p.Gln670Leu) c.2024A>T (p.Gln675Leu) c.2021A>T (p.Gln674Leu) c.1796A>T (p.Gln599Leu) n.2514A>T n.2528A>T | |
2 | g.43877904A= | CA2493965179 | ABCG8 | c.2013A= (p.Gln671=) c.2010A= (p.Gln670=) c.2025A= (p.Gln675=) c.2022A= (p.Gln674=) c.1797A= (p.Gln599=) n.2515A= n.2529A= | |
2 | g.43877904A>C | CA346671611 | ABCG8 | c.2013A>C (p.Gln671His) c.2010A>C (p.Gln670His) c.2025A>C (p.Gln675His) c.2022A>C (p.Gln674His) c.1797A>C (p.Gln599His) n.2515A>C n.2529A>C | |
2 | g.43877904A>G | CA46474808 | ABCG8 | c.2013A>G (p.Gln671=) c.2010A>G (p.Gln670=) c.2025A>G (p.Gln675=) c.2022A>G (p.Gln674=) c.1797A>G (p.Gln599=) n.2515A>G n.2529A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43877904A>T | CA346671608 | ABCG8 | c.2013A>T (p.Gln671His) c.2010A>T (p.Gln670His) c.2025A>T (p.Gln675His) c.2022A>T (p.Gln674His) c.1797A>T (p.Gln599His) n.2515A>T n.2529A>T | |
2 | g.43877905G>A | CA1637734 | ABCG8 | c.2014G>A (p.Asp672Asn) c.2011G>A (p.Asp671Asn) c.2026G>A (p.Asp676Asn) c.2023G>A (p.Asp675Asn) c.1798G>A (p.Asp600Asn) n.2516G>A n.2530G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877905G>C | CA346671614 | ABCG8 | c.2014G>C (p.Asp672His) c.2011G>C (p.Asp671His) c.2026G>C (p.Asp676His) c.2023G>C (p.Asp675His) c.1798G>C (p.Asp600His) n.2516G>C n.2530G>C | |
2 | g.43877905G= | CA2493965180 | ABCG8 | c.2014G= (p.Asp672=) c.2011G= (p.Asp671=) c.2026G= (p.Asp676=) c.2023G= (p.Asp675=) c.1798G= (p.Asp600=) n.2516G= n.2530G= | |
2 | g.43877905G>T | CA346671615 | ABCG8 | c.2014G>T (p.Asp672Tyr) c.2011G>T (p.Asp671Tyr) c.2026G>T (p.Asp676Tyr) c.2023G>T (p.Asp675Tyr) c.1798G>T (p.Asp600Tyr) n.2516G>T n.2530G>T | |
2 | g.43877906A= | CA2493965181 | ABCG8 | c.2015A= (p.Asp672=) c.2012A= (p.Asp671=) c.2027A= (p.Asp676=) c.2024A= (p.Asp675=) c.1799A= (p.Asp600=) n.2517A= n.2531A= | |
2 | g.43877906A>C | CA346671617 | ABCG8 | c.2015A>C (p.Asp672Ala) c.2012A>C (p.Asp671Ala) c.2027A>C (p.Asp676Ala) c.2024A>C (p.Asp675Ala) c.1799A>C (p.Asp600Ala) n.2517A>C n.2531A>C | |
2 | g.43877906A>G | CA346671619 | ABCG8 | c.2015A>G (p.Asp672Gly) c.2012A>G (p.Asp671Gly) c.2027A>G (p.Asp676Gly) c.2024A>G (p.Asp675Gly) c.1799A>G (p.Asp600Gly) n.2517A>G n.2531A>G | |
2 | g.43877906A>T | CA46474829 | ABCG8 | c.2015A>T (p.Asp672Val) c.2012A>T (p.Asp671Val) c.2027A>T (p.Asp676Val) c.2024A>T (p.Asp675Val) c.1799A>T (p.Asp600Val) n.2517A>T n.2531A>T | dbSNP gnomAD v4 |
2 | g.43877907C>A | CA346671620 | ABCG8 | c.2016C>A (p.Asp672Glu) c.2013C>A (p.Asp671Glu) c.2028C>A (p.Asp676Glu) c.2025C>A (p.Asp675Glu) c.1800C>A (p.Asp600Glu) n.2518C>A n.2532C>A | gnomAD v4 |
2 | g.43877907C>G | CA346671622 | ABCG8 | c.2016C>G (p.Asp672Glu) c.2013C>G (p.Asp671Glu) c.2028C>G (p.Asp676Glu) c.2025C>G (p.Asp675Glu) c.1800C>G (p.Asp600Glu) n.2518C>G n.2532C>G | gnomAD v4 |
2 | g.43877907C>T | CA425908361 | ABCG8 | c.2016C>T (p.Asp672=) c.2013C>T (p.Asp671=) c.2028C>T (p.Asp676=) c.2025C>T (p.Asp675=) c.1800C>T (p.Asp600=) n.2518C>T n.2532C>T | |
2 | g.43877908T>A | CA346671625 | ABCG8 | c.2017T>A (p.Trp673Arg) c.2014T>A (p.Trp672Arg) c.2029T>A (p.Trp677Arg) c.2026T>A (p.Trp676Arg) c.1801T>A (p.Trp601Arg) n.2519T>A n.2533T>A | |
2 | g.43877908T>C | CA1637735 | ABCG8 | c.2017T>C (p.Trp673Arg) c.2014T>C (p.Trp672Arg) c.2029T>C (p.Trp677Arg) c.2026T>C (p.Trp676Arg) c.1801T>C (p.Trp601Arg) n.2519T>C n.2533T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877908T>G | CA346671627 | ABCG8 | c.2017T>G (p.Trp673Gly) c.2014T>G (p.Trp672Gly) c.2029T>G (p.Trp677Gly) c.2026T>G (p.Trp676Gly) c.1801T>G (p.Trp601Gly) n.2519T>G n.2533T>G | |
2 | g.43877908T= | CA2493965182 | ABCG8 | c.2017T= (p.Trp673=) c.2014T= (p.Trp672=) c.2029T= (p.Trp677=) c.2026T= (p.Trp676=) c.1801T= (p.Trp601=) n.2519T= n.2533T= | |
2 | g.43877909G>A | CA346671631 | ABCG8 | c.2018G>A (p.Trp673Ter) c.2015G>A (p.Trp672Ter) c.2030G>A (p.Trp677Ter) c.2027G>A (p.Trp676Ter) c.1802G>A (p.Trp601Ter) n.2520G>A n.2534G>A | gnomAD v4 |
2 | g.43877909G>C | CA346671630 | ABCG8 | c.2018G>C (p.Trp673Ser) c.2015G>C (p.Trp672Ser) c.2030G>C (p.Trp677Ser) c.2027G>C (p.Trp676Ser) c.1802G>C (p.Trp601Ser) n.2520G>C n.2534G>C | |
2 | g.43877909G>T | CA346671629 | ABCG8 | c.2018G>T (p.Trp673Leu) c.2015G>T (p.Trp672Leu) c.2030G>T (p.Trp677Leu) c.2027G>T (p.Trp676Leu) c.1802G>T (p.Trp601Leu) n.2520G>T n.2534G>T | gnomAD v4 |
2 | g.43877910G>A | CA346671632 | ABCG8 | c.2019G>A (p.Trp673Ter) c.2016G>A (p.Trp672Ter) c.2031G>A (p.Trp677Ter) c.2028G>A (p.Trp676Ter) c.1803G>A (p.Trp601Ter) n.2521G>A n.2535G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43877910G>C | CA1637736 | ABCG8 | c.2019G>C (p.Trp673Cys) c.2016G>C (p.Trp672Cys) c.2031G>C (p.Trp677Cys) c.2028G>C (p.Trp676Cys) c.1803G>C (p.Trp601Cys) n.2521G>C n.2535G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877910G= | CA2493965183 | ABCG8 | c.2019G= (p.Trp673=) c.2016G= (p.Trp672=) c.2031G= (p.Trp677=) c.2028G= (p.Trp676=) c.1803G= (p.Trp601=) n.2521G= n.2535G= | |
2 | g.43877910G>T | CA346671634 | ABCG8 | c.2019G>T (p.Trp673Cys) c.2016G>T (p.Trp672Cys) c.2031G>T (p.Trp677Cys) c.2028G>T (p.Trp676Cys) c.1803G>T (p.Trp601Cys) n.2521G>T n.2535G>T | |
2 | g.43877911T>A | CA346671636 | ABCG8 | c.2020T>A (p.Ter674Arg) c.2017T>A (p.Ter673Arg) c.2032T>A (p.Ter678Arg) c.2029T>A (p.Ter677Arg) c.1804T>A (p.Ter602Arg) n.2522T>A n.2536T>A | |
2 | g.43877911T>C | CA346671638 | ABCG8 | c.2020T>C (p.Ter674Arg) c.2017T>C (p.Ter673Arg) c.2032T>C (p.Ter678Arg) c.2029T>C (p.Ter677Arg) c.1804T>C (p.Ter602Arg) n.2522T>C n.2536T>C | |
2 | g.43877911T>G | CA346671640 | ABCG8 | c.2020T>G (p.Ter674Gly) c.2017T>G (p.Ter673Gly) c.2032T>G (p.Ter678Gly) c.2029T>G (p.Ter677Gly) c.1804T>G (p.Ter602Gly) n.2522T>G n.2536T>G | |
2 | g.43877912G>A | CA1637737 | ABCG8 | c.2021G>A (p.Ter674=) c.2018G>A (p.Ter673=) c.2033G>A (p.Ter678=) c.2030G>A (p.Ter677=) c.1805G>A (p.Ter602=) n.2523G>A n.2537G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.43877912G>C | CA346671643 | ABCG8 | c.2021G>C (p.Ter674Ser) c.2018G>C (p.Ter673Ser) c.2033G>C (p.Ter678Ser) c.2030G>C (p.Ter677Ser) c.1805G>C (p.Ter602Ser) n.2523G>C n.2537G>C | |
2 | g.43877912G= | CA2493965184 | ABCG8 | c.2021G= (p.Ter674=) c.2018G= (p.Ter673=) c.2033G= (p.Ter678=) c.2030G= (p.Ter677=) c.1805G= (p.Ter602=) n.2523G= n.2537G= | |
2 | g.43877912G>T | CA346671644 | ABCG8 | c.2021G>T (p.Ter674Leu) c.2018G>T (p.Ter673Leu) c.2033G>T (p.Ter678Leu) c.2030G>T (p.Ter677Leu) c.1805G>T (p.Ter602Leu) n.2523G>T n.2537G>T | |
2 | g.43877913A= | CA2493965185 | ABCG8 | c.2022A= (p.Ter674=) c.2019A= (p.Ter673=) c.2034A= (p.Ter678=) c.2031A= (p.Ter677=) c.1806A= (p.Ter602=) n.2524A= n.2538A= | |
2 | g.43877913A>C | CA346671647 | ABCG8 | c.2022A>C (p.Ter674Cys) c.2019A>C (p.Ter673Cys) c.2034A>C (p.Ter678Cys) c.2031A>C (p.Ter677Cys) c.1806A>C (p.Ter602Cys) n.2524A>C n.2538A>C | |
2 | g.43877913A>G | CA346671648 | ABCG8 | c.2022A>G (p.Ter674Trp) c.2019A>G (p.Ter673Trp) c.2034A>G (p.Ter678Trp) c.2031A>G (p.Ter677Trp) c.1806A>G (p.Ter602Trp) n.2524A>G n.2538A>G | dbSNP gnomAD v4 |
2 | g.43877913A>T | CA346671649 | ABCG8 | c.2022A>T (p.Ter674Cys) c.2019A>T (p.Ter673Cys) c.2034A>T (p.Ter678Cys) c.2031A>T (p.Ter677Cys) c.1806A>T (p.Ter602Cys) n.2524A>T n.2538A>T | gnomAD v4 |