Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50529200_50529204delinsACACT | CA1706649081 | DDC,FIGNL1 | c.570+4_570+8delinsAGTGT (n.570+4_570+8delinsAGTGT) c.336+4_336+8delinsAGTGT (n.336+4_336+8delinsAGTGT) c.213-924_213-920delinsAGTGT c.435+8656_435+8660delinsAGTGT (n.435+8656_435+8660delinsAGTGT) c.456+4_456+8delinsAGTGT (n.456+4_456+8delinsAGTGT) n.369+4_369+8delinsAGTGT c.-11+13314_-11+13318delinsAGTGT (n.-11+13314_-11+13318delinsAGTGT) c.219+4_219+8delinsAGTGT (n.219+4_219+8delinsAGTGT) c.513+4_513+8delinsAGTGT (n.513+4_513+8delinsAGTGT) | |
7 | g.50529204_50529207del | CA839343703 | DDC,FIGNL1 | c.570+4_570+7del (n.570+4_570+7del) c.336+4_336+7del (n.336+4_336+7del) c.213-924_213-921del c.435+8656_435+8659del (n.435+8656_435+8659del) c.456+4_456+7del (n.456+4_456+7del) n.369+4_369+7del c.-11+13314_-11+13317del (n.-11+13314_-11+13317del) c.219+4_219+7del (n.219+4_219+7del) c.513+4_513+7del (n.513+4_513+7del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50529206A>C | CA367526595 | DDC,FIGNL1 | c.570+2T>G (n.570+2T>G) c.336+2T>G (n.336+2T>G) c.213-926T>G c.435+8654T>G (n.435+8654T>G) c.456+2T>G (n.456+2T>G) n.369+2T>G c.-11+13312T>G (n.-11+13312T>G) c.219+2T>G (n.219+2T>G) c.513+2T>G (n.513+2T>G) | |
7 | g.50529206A>G | CA367526594 | DDC,FIGNL1 | c.570+2T>C (n.570+2T>C) c.336+2T>C (n.336+2T>C) c.213-926T>C c.435+8654T>C (n.435+8654T>C) c.456+2T>C (n.456+2T>C) n.369+2T>C c.-11+13312T>C (n.-11+13312T>C) c.219+2T>C (n.219+2T>C) c.513+2T>C (n.513+2T>C) | |
7 | g.50529206A>T | CA367526593 | DDC,FIGNL1 | c.570+2T>A (n.570+2T>A) c.336+2T>A (n.336+2T>A) c.213-926T>A c.435+8654T>A (n.435+8654T>A) c.456+2T>A (n.456+2T>A) n.369+2T>A c.-11+13312T>A (n.-11+13312T>A) c.219+2T>A (n.219+2T>A) c.513+2T>A (n.513+2T>A) | |
7 | g.50529207C>A | CA367526596 | DDC,FIGNL1 | c.570+1G>T (n.570+1G>T) c.336+1G>T (n.336+1G>T) c.213-927G>T c.435+8653G>T (n.435+8653G>T) c.456+1G>T (n.456+1G>T) n.369+1G>T c.-11+13311G>T (n.-11+13311G>T) c.219+1G>T (n.219+1G>T) c.513+1G>T (n.513+1G>T) | gnomAD v4 |
7 | g.50529207C>G | CA367526597 | DDC,FIGNL1 | c.570+1G>C (n.570+1G>C) c.336+1G>C (n.336+1G>C) c.213-927G>C c.435+8653G>C (n.435+8653G>C) c.456+1G>C (n.456+1G>C) n.369+1G>C c.-11+13311G>C (n.-11+13311G>C) c.219+1G>C (n.219+1G>C) c.513+1G>C (n.513+1G>C) | |
7 | g.50529207C>T | CA367526598 | DDC,FIGNL1 | c.570+1G>A (n.570+1G>A) c.336+1G>A (n.336+1G>A) c.213-927G>A c.435+8653G>A (n.435+8653G>A) c.456+1G>A (n.456+1G>A) n.369+1G>A c.-11+13311G>A (n.-11+13311G>A) c.219+1G>A (n.219+1G>A) c.513+1G>A (n.513+1G>A) | |
7 | g.50529208C>A | CA367526599 | DDC,FIGNL1 | c.570G>T (p.Gln190His) c.336G>T (p.Gln112His) c.213-928G>T c.435+8652G>T (n.435+8652G>T) c.456G>T (p.Gln152His) n.369G>T c.-11+13310G>T (n.-11+13310G>T) c.219G>T (p.Gln73His) c.513G>T (p.Gln171His) | COSMIC COSMIC |
7 | g.50529208C>G | CA367526600 | DDC,FIGNL1 | c.570G>C (p.Gln190His) c.336G>C (p.Gln112His) c.213-928G>C c.435+8652G>C (n.435+8652G>C) c.456G>C (p.Gln152His) n.369G>C c.-11+13310G>C (n.-11+13310G>C) c.219G>C (p.Gln73His) c.513G>C (p.Gln171His) | |
7 | g.50529208C>T | CA454937485 | DDC,FIGNL1 | c.570G>A (p.Gln190=) c.336G>A (p.Gln112=) c.213-928G>A c.435+8652G>A (n.435+8652G>A) c.456G>A (p.Gln152=) n.369G>A c.-11+13310G>A (n.-11+13310G>A) c.219G>A (p.Gln73=) c.513G>A (p.Gln171=) | |
7 | g.50529209T>A | CA4262337 | DDC,FIGNL1 | c.569A>T (p.Gln190Leu) c.335A>T (p.Gln112Leu) c.213-929A>T c.435+8651A>T (n.435+8651A>T) c.455A>T (p.Gln152Leu) n.368A>T c.-11+13309A>T (n.-11+13309A>T) c.218A>T (p.Gln73Leu) c.512A>T (p.Gln171Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529209T>C | CA367526601 | DDC,FIGNL1 | c.569A>G (p.Gln190Arg) c.335A>G (p.Gln112Arg) c.213-929A>G c.435+8651A>G (n.435+8651A>G) c.455A>G (p.Gln152Arg) n.368A>G c.-11+13309A>G (n.-11+13309A>G) c.218A>G (p.Gln73Arg) c.512A>G (p.Gln171Arg) | gnomAD v4 |
7 | g.50529209T>G | CA367526602 | DDC,FIGNL1 | c.569A>C (p.Gln190Pro) c.335A>C (p.Gln112Pro) c.213-929A>C c.435+8651A>C (n.435+8651A>C) c.455A>C (p.Gln152Pro) n.368A>C c.-11+13309A>C (n.-11+13309A>C) c.218A>C (p.Gln73Pro) c.512A>C (p.Gln171Pro) | |
7 | g.50529209T= | CA1706649105 | DDC,FIGNL1 | c.569A= (p.Gln190=) c.335A= (p.Gln112=) c.213-929A= c.435+8651A= (n.435+8651A=) c.455A= (p.Gln152=) n.368A= c.-11+13309A= (n.-11+13309A=) c.218A= (p.Gln73=) c.512A= (p.Gln171=) | |
7 | g.50529209_50529210insATCG | CA2026154274 | DDC,FIGNL1 | c.568_569insCGAT (p.Gln190ProfsTer?) c.334_335insCGAT (p.Gln112ProfsTer?) c.213-930_213-929insCGAT c.435+8650_435+8651insCGAT (n.435+8650_435+8651insCGAT) c.454_455insCGAT (p.Gln152ProfsTer?) n.367_368insCGAT c.-11+13308_-11+13309insCGAT (n.-11+13308_-11+13309insCGAT) c.568_569insCGAT (p.Gln190ProfsTer16) c.217_218insCGAT (p.Gln73ProfsTer?) c.511_512insCGAT (p.Gln171ProfsTer?) | |
7 | g.50529210G>A | CA367526603 | DDC,FIGNL1 | c.568C>T (p.Gln190Ter) c.334C>T (p.Gln112Ter) c.213-930C>T c.435+8650C>T (n.435+8650C>T) c.454C>T (p.Gln152Ter) n.367C>T c.-11+13308C>T (n.-11+13308C>T) c.217C>T (p.Gln73Ter) c.511C>T (p.Gln171Ter) | ClinVar dbSNP |
7 | g.50529210G>C | CA367526604 | DDC,FIGNL1 | c.568C>G (p.Gln190Glu) c.334C>G (p.Gln112Glu) c.213-930C>G c.435+8650C>G (n.435+8650C>G) c.454C>G (p.Gln152Glu) n.367C>G c.-11+13308C>G (n.-11+13308C>G) c.217C>G (p.Gln73Glu) c.511C>G (p.Gln171Glu) | |
7 | g.50529210G>T | CA367526605 | DDC,FIGNL1 | c.568C>A (p.Gln190Lys) c.334C>A (p.Gln112Lys) c.213-930C>A c.435+8650C>A (n.435+8650C>A) c.454C>A (p.Gln152Lys) n.367C>A c.-11+13308C>A (n.-11+13308C>A) c.217C>A (p.Gln73Lys) c.511C>A (p.Gln171Lys) | |
7 | g.50529213_50529217dup | CA1706649109 | DDC,FIGNL1 | c.564_568dup (p.Gln190ProfsTer13) c.330_334dup (p.Gln112ProfsTer13) c.213-934_213-930dup c.435+8646_435+8650dup (n.435+8646_435+8650dup) c.450_454dup (p.Gln152ProfsTer13) n.363_367dup c.-11+13304_-11+13308dup (n.-11+13304_-11+13308dup) c.564_568dup (p.Gln190ProfsTer20) c.213_217dup (p.Gln73ProfsTer13) c.507_511dup (p.Gln171ProfsTer13) | ClinVar dbSNP |
7 | g.50529211A>C | CA367526606 | DDC,FIGNL1 | c.567T>G (p.Asp189Glu) c.333T>G (p.Asp111Glu) c.213-931T>G c.435+8649T>G (n.435+8649T>G) c.453T>G (p.Asp151Glu) n.366T>G c.-11+13307T>G (n.-11+13307T>G) c.216T>G (p.Asp72Glu) c.510T>G (p.Asp170Glu) | |
7 | g.50529211A>G | CA454937486 | DDC,FIGNL1 | c.567T>C (p.Asp189=) c.333T>C (p.Asp111=) c.213-931T>C c.435+8649T>C (n.435+8649T>C) c.453T>C (p.Asp151=) n.366T>C c.-11+13307T>C (n.-11+13307T>C) c.216T>C (p.Asp72=) c.510T>C (p.Asp170=) | |
7 | g.50529211A>T | CA367526607 | DDC,FIGNL1 | c.567T>A (p.Asp189Glu) c.333T>A (p.Asp111Glu) c.213-931T>A c.435+8649T>A (n.435+8649T>A) c.453T>A (p.Asp151Glu) n.366T>A c.-11+13307T>A (n.-11+13307T>A) c.216T>A (p.Asp72Glu) c.510T>A (p.Asp170Glu) | |
7 | g.50529212T>A | CA367526609 | DDC,FIGNL1 | c.566A>T (p.Asp189Val) c.332A>T (p.Asp111Val) c.213-932A>T c.435+8648A>T (n.435+8648A>T) c.452A>T (p.Asp151Val) n.365A>T c.-11+13306A>T (n.-11+13306A>T) c.215A>T (p.Asp72Val) c.509A>T (p.Asp170Val) | gnomAD v4 |
7 | g.50529212T>C | CA367526610 | DDC,FIGNL1 | c.566A>G (p.Asp189Gly) c.332A>G (p.Asp111Gly) c.213-932A>G c.435+8648A>G (n.435+8648A>G) c.452A>G (p.Asp151Gly) n.365A>G c.-11+13306A>G (n.-11+13306A>G) c.215A>G (p.Asp72Gly) c.509A>G (p.Asp170Gly) | |
7 | g.50529212T>G | CA367526608 | DDC,FIGNL1 | c.566A>C (p.Asp189Ala) c.332A>C (p.Asp111Ala) c.213-932A>C c.435+8648A>C (n.435+8648A>C) c.452A>C (p.Asp151Ala) n.365A>C c.-11+13306A>C (n.-11+13306A>C) c.215A>C (p.Asp72Ala) c.509A>C (p.Asp170Ala) | |
7 | g.50529213C>A | CA367526612 | DDC,FIGNL1 | c.565G>T (p.Asp189Tyr) c.331G>T (p.Asp111Tyr) c.213-933G>T c.435+8647G>T (n.435+8647G>T) c.451G>T (p.Asp151Tyr) n.364G>T c.-11+13305G>T (n.-11+13305G>T) c.214G>T (p.Asp72Tyr) c.508G>T (p.Asp170Tyr) | |
7 | g.50529213C= | CA1706649117 | DDC,FIGNL1 | c.565G= (p.Asp189=) c.331G= (p.Asp111=) c.213-933G= c.435+8647G= (n.435+8647G=) c.451G= (p.Asp151=) n.364G= c.-11+13305G= (n.-11+13305G=) c.214G= (p.Asp72=) c.508G= (p.Asp170=) | |
7 | g.50529213C>G | CA4262338 | DDC,FIGNL1 | c.565G>C (p.Asp189His) c.331G>C (p.Asp111His) c.213-933G>C c.435+8647G>C (n.435+8647G>C) c.451G>C (p.Asp151His) n.364G>C c.-11+13305G>C (n.-11+13305G>C) c.214G>C (p.Asp72His) c.508G>C (p.Asp170His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529213C>T | CA367526611 | DDC,FIGNL1 | c.565G>A (p.Asp189Asn) c.331G>A (p.Asp111Asn) c.213-933G>A c.435+8647G>A (n.435+8647G>A) c.451G>A (p.Asp151Asn) n.364G>A c.-11+13305G>A (n.-11+13305G>A) c.214G>A (p.Asp72Asn) c.508G>A (p.Asp170Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529214G>A | CA4262339 | DDC,FIGNL1 | c.564C>T (p.Ser188=) c.330C>T (p.Ser110=) c.213-934C>T c.435+8646C>T (n.435+8646C>T) c.450C>T (p.Ser150=) n.363C>T c.-11+13304C>T (n.-11+13304C>T) c.213C>T (p.Ser71=) c.507C>T (p.Ser169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529214G>C | CA454937488 | DDC,FIGNL1 | c.564C>G (p.Ser188=) c.330C>G (p.Ser110=) c.213-934C>G c.435+8646C>G (n.435+8646C>G) c.450C>G (p.Ser150=) n.363C>G c.-11+13304C>G (n.-11+13304C>G) c.213C>G (p.Ser71=) c.507C>G (p.Ser169=) | |
7 | g.50529214G= | CA1706649126 | DDC,FIGNL1 | c.564C= (p.Ser188=) c.330C= (p.Ser110=) c.213-934C= c.435+8646C= (n.435+8646C=) c.450C= (p.Ser150=) n.363C= c.-11+13304C= (n.-11+13304C=) c.213C= (p.Ser71=) c.507C= (p.Ser169=) | |
7 | g.50529214G>T | CA454937487 | DDC,FIGNL1 | c.564C>A (p.Ser188=) c.330C>A (p.Ser110=) c.213-934C>A c.435+8646C>A (n.435+8646C>A) c.450C>A (p.Ser150=) n.363C>A c.-11+13304C>A (n.-11+13304C>A) c.213C>A (p.Ser71=) c.507C>A (p.Ser169=) | |
7 | g.50529215G>A | CA367526613 | DDC,FIGNL1 | c.563C>T (p.Ser188Phe) c.329C>T (p.Ser110Phe) c.213-935C>T c.435+8645C>T (n.435+8645C>T) c.449C>T (p.Ser150Phe) n.362C>T c.-11+13303C>T (n.-11+13303C>T) c.212C>T (p.Ser71Phe) c.506C>T (p.Ser169Phe) | |
7 | g.50529215G>C | CA367526614 | DDC,FIGNL1 | c.563C>G (p.Ser188Cys) c.329C>G (p.Ser110Cys) c.213-935C>G c.435+8645C>G (n.435+8645C>G) c.449C>G (p.Ser150Cys) n.362C>G c.-11+13303C>G (n.-11+13303C>G) c.212C>G (p.Ser71Cys) c.506C>G (p.Ser169Cys) | |
7 | g.50529215G= | CA1706649130 | DDC,FIGNL1 | c.563C= (p.Ser188=) c.329C= (p.Ser110=) c.213-935C= c.435+8645C= (n.435+8645C=) c.449C= (p.Ser150=) n.362C= c.-11+13303C= (n.-11+13303C=) c.212C= (p.Ser71=) c.506C= (p.Ser169=) | |
7 | g.50529215G>T | CA367526615 | DDC,FIGNL1 | c.563C>A (p.Ser188Tyr) c.329C>A (p.Ser110Tyr) c.213-935C>A c.435+8645C>A (n.435+8645C>A) c.449C>A (p.Ser150Tyr) n.362C>A c.-11+13303C>A (n.-11+13303C>A) c.212C>A (p.Ser71Tyr) c.506C>A (p.Ser169Tyr) | dbSNP |
7 | g.50529216A>C | CA367526616 | DDC,FIGNL1 | c.562T>G (p.Ser188Ala) c.328T>G (p.Ser110Ala) c.213-936T>G c.435+8644T>G (n.435+8644T>G) c.448T>G (p.Ser150Ala) n.361T>G c.-11+13302T>G (n.-11+13302T>G) c.211T>G (p.Ser71Ala) c.505T>G (p.Ser169Ala) | |
7 | g.50529216A>G | CA367526617 | DDC,FIGNL1 | c.562T>C (p.Ser188Pro) c.328T>C (p.Ser110Pro) c.213-936T>C c.435+8644T>C (n.435+8644T>C) c.448T>C (p.Ser150Pro) n.361T>C c.-11+13302T>C (n.-11+13302T>C) c.211T>C (p.Ser71Pro) c.505T>C (p.Ser169Pro) | |
7 | g.50529216A>T | CA367526618 | DDC,FIGNL1 | c.562T>A (p.Ser188Thr) c.328T>A (p.Ser110Thr) c.213-936T>A c.435+8644T>A (n.435+8644T>A) c.448T>A (p.Ser150Thr) n.361T>A c.-11+13302T>A (n.-11+13302T>A) c.211T>A (p.Ser71Thr) c.505T>A (p.Ser169Thr) | |
7 | g.50529217T>A | CA454937489 | DDC,FIGNL1 | c.561A>T (p.Ser187=) c.327A>T (p.Ser109=) c.213-937A>T c.435+8643A>T (n.435+8643A>T) c.447A>T (p.Ser149=) n.360A>T c.-11+13301A>T (n.-11+13301A>T) c.210A>T (p.Ser70=) c.504A>T (p.Ser168=) | |
7 | g.50529217T>C | CA4262340 | DDC,FIGNL1 | c.561A>G (p.Ser187=) c.327A>G (p.Ser109=) c.213-937A>G c.435+8643A>G (n.435+8643A>G) c.447A>G (p.Ser149=) n.360A>G c.-11+13301A>G (n.-11+13301A>G) c.210A>G (p.Ser70=) c.504A>G (p.Ser168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529217T>G | CA454937490 | DDC,FIGNL1 | c.561A>C (p.Ser187=) c.327A>C (p.Ser109=) c.213-937A>C c.435+8643A>C (n.435+8643A>C) c.447A>C (p.Ser149=) n.360A>C c.-11+13301A>C (n.-11+13301A>C) c.210A>C (p.Ser70=) c.504A>C (p.Ser168=) | dbSNP |
7 | g.50529217T= | CA1706649134 | DDC,FIGNL1 | c.561A= (p.Ser187=) c.327A= (p.Ser109=) c.213-937A= c.435+8643A= (n.435+8643A=) c.447A= (p.Ser149=) n.360A= c.-11+13301A= (n.-11+13301A=) c.210A= (p.Ser70=) c.504A= (p.Ser168=) | |
7 | g.50529218G>A | CA367526619 | DDC,FIGNL1 | c.560C>T (p.Ser187Leu) c.326C>T (p.Ser109Leu) c.213-938C>T c.435+8642C>T (n.435+8642C>T) c.446C>T (p.Ser149Leu) n.359C>T c.-11+13300C>T (n.-11+13300C>T) c.209C>T (p.Ser70Leu) c.503C>T (p.Ser168Leu) | COSMIC COSMIC |
7 | g.50529218G>C | CA367526620 | DDC,FIGNL1 | c.560C>G (p.Ser187Ter) c.326C>G (p.Ser109Ter) c.213-938C>G c.435+8642C>G (n.435+8642C>G) c.446C>G (p.Ser149Ter) n.359C>G c.-11+13300C>G (n.-11+13300C>G) c.209C>G (p.Ser70Ter) c.503C>G (p.Ser168Ter) | |
7 | g.50529218G>T | CA367526621 | DDC,FIGNL1 | c.560C>A (p.Ser187Ter) c.326C>A (p.Ser109Ter) c.213-938C>A c.435+8642C>A (n.435+8642C>A) c.446C>A (p.Ser149Ter) n.359C>A c.-11+13300C>A (n.-11+13300C>A) c.209C>A (p.Ser70Ter) c.503C>A (p.Ser168Ter) | |
7 | g.50529219A>C | CA367526622 | DDC,FIGNL1 | c.559T>G (p.Ser187Ala) c.325T>G (p.Ser109Ala) c.213-939T>G c.435+8641T>G (n.435+8641T>G) c.445T>G (p.Ser149Ala) n.358T>G c.-11+13299T>G (n.-11+13299T>G) c.208T>G (p.Ser70Ala) c.502T>G (p.Ser168Ala) | |
7 | g.50529219A>G | CA367526624 | DDC,FIGNL1 | c.559T>C (p.Ser187Pro) c.325T>C (p.Ser109Pro) c.213-939T>C c.435+8641T>C (n.435+8641T>C) c.445T>C (p.Ser149Pro) n.358T>C c.-11+13299T>C (n.-11+13299T>C) c.208T>C (p.Ser70Pro) c.502T>C (p.Ser168Pro) |