Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110644504A>C | CA378527414 | RBM20 | c.50A>C (p.Glu17Ala) c.26+1064A>C (n.26+1064A>C) | |
10 | g.110644504A>G | CA378527416 | RBM20 | c.50A>G (p.Glu17Gly) c.26+1064A>G (n.26+1064A>G) | |
10 | g.110644504A>T | CA378527418 | RBM20 | c.50A>T (p.Glu17Val) c.26+1064A>T (n.26+1064A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644505G>A | CA471464183 | RBM20 | c.51G>A (p.Glu17=) c.26+1065G>A (n.26+1065G>A) | gnomAD v4 |
10 | g.110644505G>C | CA378527420 | RBM20 | c.51G>C (p.Glu17Asp) c.26+1065G>C (n.26+1065G>C) | |
10 | g.110644505G>T | CA378527422 | RBM20 | c.51G>T (p.Glu17Asp) c.26+1065G>T (n.26+1065G>T) | gnomAD v4 |
10 | g.110644506C>A | CA213903187 | RBM20 | c.52C>A (p.Gln18Lys) c.26+1066C>A (n.26+1066C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644506C>G | CA378527425 | RBM20 | c.52C>G (p.Gln18Glu) c.26+1066C>G (n.26+1066C>G) | gnomAD v4 |
10 | g.110644506C>T | CA378527427 | RBM20 | c.52C>T (p.Gln18Ter) c.26+1066C>T (n.26+1066C>T) | gnomAD v4 |
10 | g.110644507A>C | CA378527429 | RBM20 | c.53A>C (p.Gln18Pro) c.26+1067A>C (n.26+1067A>C) | |
10 | g.110644507A>G | CA378527431 | RBM20 | c.53A>G (p.Gln18Arg) c.26+1067A>G (n.26+1067A>G) | gnomAD v4 |
10 | g.110644507A>T | CA378527433 | RBM20 | c.53A>T (p.Gln18Leu) c.26+1067A>T (n.26+1067A>T) | dbSNP gnomAD v4 |
10 | g.110644508G>A | CA471464184 | RBM20 | c.54G>A (p.Gln18=) c.26+1068G>A (n.26+1068G>A) | gnomAD v4 |
10 | g.110644508G>C | CA378527436 | RBM20 | c.54G>C (p.Gln18His) c.26+1068G>C (n.26+1068G>C) | |
10 | g.110644508G>T | CA378527437 | RBM20 | c.54G>T (p.Gln18His) c.26+1068G>T (n.26+1068G>T) | gnomAD v4 |
10 | g.110644509C>A | CA378527443 | RBM20 | c.55C>A (p.Pro19Thr) c.26+1069C>A (n.26+1069C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644509C>G | CA378527442 | RBM20 | c.55C>G (p.Pro19Ala) c.26+1069C>G (n.26+1069C>G) | |
10 | g.110644509C>T | CA378527440 | RBM20 | c.55C>T (p.Pro19Ser) c.26+1069C>T (n.26+1069C>T) | gnomAD v4 |
10 | g.110644510C>A | CA378527446 | RBM20 | c.56C>A (p.Pro19Gln) c.26+1070C>A (n.26+1070C>A) | gnomAD v4 |
10 | g.110644510C>G | CA184130 | RBM20 | c.56C>G (p.Pro19Arg) c.26+1070C>G (n.26+1070C>G) | ClinVar dbSNP gnomAD v4 |
10 | g.110644510C>T | CA378527448 | RBM20 | c.56C>T (p.Pro19Leu) c.26+1070C>T (n.26+1070C>T) | gnomAD v4 |
10 | g.110644511G>A | CA5688487 | RBM20 | c.57G>A (p.Pro19=) c.26+1071G>A (n.26+1071G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110644511G>C | CA471464185 | RBM20 | c.57G>C (p.Pro19=) c.26+1071G>C (n.26+1071G>C) | gnomAD v4 |
10 | g.110644511G>T | CA16605602 | RBM20 | c.57G>T (p.Pro19=) c.26+1071G>T (n.26+1071G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644511_110644512delinsTT | CA2573145535 | RBM20 | c.57_58delinsTT (p.Asp20Tyr) c.26+1071_26+1072delinsTT (n.26+1071_26+1072delinsTT) | ClinVar dbSNP |
10 | g.110644512G>A | CA378527451 | RBM20 | c.58G>A (p.Asp20Asn) c.26+1072G>A (n.26+1072G>A) | dbSNP gnomAD v4 |
10 | g.110644512G>C | CA378527453 | RBM20 | c.58G>C (p.Asp20His) c.26+1072G>C (n.26+1072G>C) | |
10 | g.110644512G>T | CA378527455 | RBM20 | c.58G>T (p.Asp20Tyr) c.26+1072G>T (n.26+1072G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644513A>C | CA378527457 | RBM20 | c.59A>C (p.Asp20Ala) c.26+1073A>C (n.26+1073A>C) | |
10 | g.110644513A>G | CA378527459 | RBM20 | c.59A>G (p.Asp20Gly) c.26+1073A>G (n.26+1073A>G) | gnomAD v4 |
10 | g.110644513A>T | CA378527461 | RBM20 | c.59A>T (p.Asp20Val) c.26+1073A>T (n.26+1073A>T) | |
10 | g.110644514C>A | CA378527463 | RBM20 | c.60C>A (p.Asp20Glu) c.26+1074C>A (n.26+1074C>A) | gnomAD v4 |
10 | g.110644514C>G | CA378527465 | RBM20 | c.60C>G (p.Asp20Glu) c.26+1074C>G (n.26+1074C>G) | gnomAD v4 |
10 | g.110644514C>T | CA471464186 | RBM20 | c.60C>T (p.Asp20=) c.26+1074C>T (n.26+1074C>T) | |
10 | g.110644515A>C | CA471464187 | RBM20 | c.61A>C (p.Arg21=) c.26+1075A>C (n.26+1075A>C) | |
10 | g.110644515A>G | CA378527467 | RBM20 | c.61A>G (p.Arg21Gly) c.26+1075A>G (n.26+1075A>G) | dbSNP gnomAD v4 |
10 | g.110644515A>T | CA378527468 | RBM20 | c.61A>T (p.Arg21Ter) c.26+1075A>T (n.26+1075A>T) | |
10 | g.110644516G>A | CA378527473 | RBM20 | c.62G>A (p.Arg21Lys) c.26+1076G>A (n.26+1076G>A) | |
10 | g.110644516G>C | CA378527475 | RBM20 | c.62G>C (p.Arg21Thr) c.26+1076G>C (n.26+1076G>C) | |
10 | g.110644516G>T | CA378527471 | RBM20 | c.62G>T (p.Arg21Ile) c.26+1076G>T (n.26+1076G>T) | gnomAD v4 |
10 | g.110644517A>C | CA378527479 | RBM20 | c.63A>C (p.Arg21Ser) c.26+1077A>C (n.26+1077A>C) | |
10 | g.110644517A>G | CA471464188 | RBM20 | c.63A>G (p.Arg21=) c.26+1077A>G (n.26+1077A>G) | gnomAD v4 |
10 | g.110644517A>T | CA378527478 | RBM20 | c.63A>T (p.Arg21Ser) c.26+1077A>T (n.26+1077A>T) | |
10 | g.110644518G>A | CA378527484 | RBM20 | c.64G>A (p.Val22Ile) c.26+1078G>A (n.26+1078G>A) | gnomAD v4 |
10 | g.110644518G>C | CA378527482 | RBM20 | c.64G>C (p.Val22Leu) c.26+1078G>C (n.26+1078G>C) | |
10 | g.110644518G>T | CA378527486 | RBM20 | c.64G>T (p.Val22Phe) c.26+1078G>T (n.26+1078G>T) | gnomAD v4 |
10 | g.110644519T>A | CA378527488 | RBM20 | c.65T>A (p.Val22Asp) c.26+1079T>A (n.26+1079T>A) | |
10 | g.110644519T>C | CA378527489 | RBM20 | c.65T>C (p.Val22Ala) c.26+1079T>C (n.26+1079T>C) | gnomAD v4 |
10 | g.110644519T>G | CA378527491 | RBM20 | c.65T>G (p.Val22Gly) c.26+1079T>G (n.26+1079T>G) | |
10 | g.110644520T>A | CA471464190 | RBM20 | c.66T>A (p.Val22=) c.26+1080T>A (n.26+1080T>A) |