Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17027723T>C | CA2643677594 | SDHB | c.369+26A>G (n.369+26A>G) c.498+26A>G (n.498+26A>G) c.540+26A>G (n.540+26A>G) n.483A>G n.474+26A>G | dbSNP gnomAD v4 |
1 | g.17027724G>A | CA1156080140 | SDHB | c.369+25C>T (n.369+25C>T) c.498+25C>T (n.498+25C>T) c.540+25C>T (n.540+25C>T) n.482C>T n.474+25C>T | dbSNP gnomAD v4 |
1 | g.17027724G= | CA1156080139 | SDHB | c.369+25C= (n.369+25C=) c.498+25C= (n.498+25C=) c.540+25C= (n.540+25C=) n.482C= n.474+25C= | |
1 | g.17027724G>T | CA1156080141 | SDHB | c.369+25C>A (n.369+25C>A) c.498+25C>A (n.498+25C>A) c.540+25C>A (n.540+25C>A) n.482C>A n.474+25C>A | dbSNP |
1 | g.17027725A= | CA1143424179 | SDHB | c.369+24T= (n.369+24T=) c.498+24T= (n.498+24T=) c.540+24T= (n.540+24T=) n.481T= n.474+24T= | |
1 | g.17027725A>G | CA18665854 | SDHB | c.369+24T>C (n.369+24T>C) c.498+24T>C (n.498+24T>C) c.540+24T>C (n.540+24T>C) n.481T>C n.474+24T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027728C>G | CA2522359720 | SDHB | c.369+21G>C (n.369+21G>C) c.498+21G>C (n.498+21G>C) c.540+21G>C (n.540+21G>C) n.478G>C n.474+21G>C | gnomAD v4 |
1 | g.17027730A>G | CA2643677598 | SDHB | c.369+19T>C (n.369+19T>C) c.498+19T>C (n.498+19T>C) c.540+19T>C (n.540+19T>C) n.476T>C n.474+19T>C | gnomAD v4 |
1 | g.17027731T>C | CA521039116 | SDHB | c.369+18A>G (n.369+18A>G) c.498+18A>G (n.498+18A>G) c.540+18A>G (n.540+18A>G) n.475A>G n.474+18A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027731T= | CA1156080142 | SDHB | c.369+18A= (n.369+18A=) c.498+18A= (n.498+18A=) c.540+18A= (n.540+18A=) n.475A= n.474+18A= | |
1 | g.17027734del | CA2574235677 | SDHB | c.369+17del (n.369+17del) c.498+17del (n.498+17del) c.540+17del (n.540+17del) n.474del n.474+17del | |
1 | g.17027733A>G | CA2580060645 | SDHB | c.369+16T>C (n.369+16T>C) c.498+16T>C (n.498+16T>C) c.540+16T>C (n.540+16T>C) n.473T>C n.474+16T>C | ClinVar gnomAD v4 |
1 | g.17027734A= | CA1156080143 | SDHB | c.369+15T= (n.369+15T=) c.498+15T= (n.498+15T=) c.540+15T= (n.540+15T=) n.472T= n.474+15T= | |
1 | g.17027734A>G | CA089642 | SDHB | c.369+15T>C (n.369+15T>C) c.498+15T>C (n.498+15T>C) c.540+15T>C (n.540+15T>C) n.472T>C n.474+15T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17027735T>C | CA645671466 | SDHB | c.369+14A>G (n.369+14A>G) c.498+14A>G (n.498+14A>G) c.540+14A>G (n.540+14A>G) n.471A>G n.474+14A>G | COSMIC |
1 | g.17027735_17027749delinsTAGGGACTAATGACC | CA1156080144 | SDHB | c.369_369+14delinsGGTCATTAGTCCCTA c.498_498+14delinsGGTCATTAGTCCCTA c.540_540+14delinsGGTCATTAGTCCCTA n.457_471delinsGGTCATTAGTCCCTA n.474_474+14delinsGGTCATTAGTCCCTA | |
1 | g.17027736A>G | CA2573130463 | SDHB | c.369+13T>C (n.369+13T>C) c.498+13T>C (n.498+13T>C) c.540+13T>C (n.540+13T>C) n.470T>C n.474+13T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17027738_17027751del | CA658656888 | SDHB | c.369_369+13del c.498_498+13del c.540_540+13del n.457_470del n.474_474+13del | ClinVar dbSNP |
1 | g.17027737G>A | CA1156080146 | SDHB | c.369+12C>T (n.369+12C>T) c.498+12C>T (n.498+12C>T) c.540+12C>T (n.540+12C>T) n.469C>T n.474+12C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17027737G>C | CA1156080147 | SDHB | c.369+12C>G (n.369+12C>G) c.498+12C>G (n.498+12C>G) c.540+12C>G (n.540+12C>G) n.469C>G n.474+12C>G | ClinVar dbSNP |
1 | g.17027737G= | CA1156080145 | SDHB | c.369+12C= (n.369+12C=) c.498+12C= (n.498+12C=) c.540+12C= (n.540+12C=) n.469C= n.474+12C= | |
1 | g.17027737G>T | CA2643677626 | SDHB | c.369+12C>A (n.369+12C>A) c.498+12C>A (n.498+12C>A) c.540+12C>A (n.540+12C>A) n.469C>A n.474+12C>A | dbSNP gnomAD v4 |
1 | g.17027739dup | CA2840353942 | SDHB | c.369+12dup (n.369+12dup) c.498+12dup (n.498+12dup) c.540+12dup (n.540+12dup) n.469dup n.474+12dup | |
1 | g.17027739del | CA2643677621 | SDHB | c.369+12del (n.369+12del) c.498+12del (n.498+12del) c.540+12del (n.540+12del) n.469del n.474+12del | gnomAD v4 |
1 | g.17027738G>A | CA891842429 | SDHB | c.369+11C>T (n.369+11C>T) c.498+11C>T (n.498+11C>T) c.540+11C>T (n.540+11C>T) n.468C>T n.474+11C>T | ClinVar dbSNP |
1 | g.17027738G>C | CA521039120 | SDHB | c.369+11C>G (n.369+11C>G) c.498+11C>G (n.498+11C>G) c.540+11C>G (n.540+11C>G) n.468C>G n.474+11C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027738G= | CA1156080149 | SDHB | c.369+11C= (n.369+11C=) c.498+11C= (n.498+11C=) c.540+11C= (n.540+11C=) n.468C= n.474+11C= | |
1 | g.17027738G>T | CA2643677631 | SDHB | c.369+11C>A (n.369+11C>A) c.498+11C>A (n.498+11C>A) c.540+11C>A (n.540+11C>A) n.468C>A n.474+11C>A | gnomAD v4 |
1 | g.17027738_17027745delinsGGACTAAT | CA1156080148 | SDHB | c.369+4_369+11delinsATTAGTCC (n.369+4_369+11delinsATTAGTCC) c.498+4_498+11delinsATTAGTCC (n.498+4_498+11delinsATTAGTCC) c.540+4_540+11delinsATTAGTCC (n.540+4_540+11delinsATTAGTCC) n.461_468delinsATTAGTCC n.474+4_474+11delinsATTAGTCC | |
1 | g.17027739G>A | CA2643677635 | SDHB | c.369+10C>T (n.369+10C>T) c.498+10C>T (n.498+10C>T) c.540+10C>T (n.540+10C>T) n.467C>T n.474+10C>T | gnomAD v4 |
1 | g.17027739G>T | CA2643677636 | SDHB | c.369+10C>A (n.369+10C>A) c.498+10C>A (n.498+10C>A) c.540+10C>A (n.540+10C>A) n.467C>A n.474+10C>A | gnomAD v4 |
1 | g.17027742_17027748del | CA10577674 | SDHB | c.369+4_369+10del (n.369+4_369+10del) c.498+4_498+10del (n.498+4_498+10del) c.540+4_540+10del (n.540+4_540+10del) n.461_467del n.474+4_474+10del | ClinVar dbSNP |
1 | g.17027740A>G | CA2643677640 | SDHB | c.369+9T>C (n.369+9T>C) c.498+9T>C (n.498+9T>C) c.540+9T>C (n.540+9T>C) n.466T>C n.474+9T>C | gnomAD v4 |
1 | g.17027741C>A | CA1139655465 | SDHB | c.369+8G>T (n.369+8G>T) c.498+8G>T (n.498+8G>T) c.540+8G>T (n.540+8G>T) n.465G>T n.474+8G>T | ClinVar dbSNP |
1 | g.17027741C= | CA1156080150 | SDHB | c.369+8G= (n.369+8G=) c.498+8G= (n.498+8G=) c.540+8G= (n.540+8G=) n.465G= n.474+8G= | |
1 | g.17027741C>T | CA2499214299 | SDHB | c.369+8G>A (n.369+8G>A) c.498+8G>A (n.498+8G>A) c.540+8G>A (n.540+8G>A) n.465G>A n.474+8G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027743A= | CA1156080151 | SDHB | c.369+6T= (n.369+6T=) c.498+6T= (n.498+6T=) c.540+6T= (n.540+6T=) n.463T= n.474+6T= | |
1 | g.17027743A>C | CA521039123 | SDHB | c.369+6T>G (n.369+6T>G) c.498+6T>G (n.498+6T>G) c.540+6T>G (n.540+6T>G) n.463T>G n.474+6T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027744del | CA2643677648 | SDHB | c.369+6del (n.369+6del) c.498+6del (n.498+6del) c.540+6del (n.540+6del) n.463del n.474+6del | gnomAD v4 |
1 | g.17027744A= | CA1156080152 | SDHB | c.369+5T= (n.369+5T=) c.498+5T= (n.498+5T=) c.540+5T= (n.540+5T=) n.462T= n.474+5T= | |
1 | g.17027744A>C | CA2580060646 | SDHB | c.369+5T>G (n.369+5T>G) c.498+5T>G (n.498+5T>G) c.540+5T>G (n.540+5T>G) n.462T>G n.474+5T>G | ClinVar |
1 | g.17027744A>G | CA891842430 | SDHB | c.369+5T>C (n.369+5T>C) c.498+5T>C (n.498+5T>C) c.540+5T>C (n.540+5T>C) n.462T>C n.474+5T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17027745T>C | CA891842431 | SDHB | c.369+4A>G (n.369+4A>G) c.498+4A>G (n.498+4A>G) c.540+4A>G (n.540+4A>G) n.461A>G n.474+4A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17027745T= | CA1156080153 | SDHB | c.369+4A= (n.369+4A=) c.498+4A= (n.498+4A=) c.540+4A= (n.540+4A=) n.461A= n.474+4A= | |
1 | g.17027746G>A | CA2580060647 | SDHB | c.369+3C>T (n.369+3C>T) c.498+3C>T (n.498+3C>T) c.540+3C>T (n.540+3C>T) n.460C>T n.474+3C>T | ClinVar |
1 | g.17027746G>T | CA2574235678 | SDHB | c.369+3C>A (n.369+3C>A) c.498+3C>A (n.498+3C>A) c.540+3C>A (n.540+3C>A) n.460C>A n.474+3C>A | gnomAD v4 |
1 | g.17027747A>C | CA338272382 | SDHB | c.369+2T>G (n.369+2T>G) c.498+2T>G (n.498+2T>G) c.540+2T>G (n.540+2T>G) n.459T>G n.474+2T>G | |
1 | g.17027747A>G | CA338272384 | SDHB | c.369+2T>C (n.369+2T>C) c.498+2T>C (n.498+2T>C) c.540+2T>C (n.540+2T>C) n.459T>C n.474+2T>C | gnomAD v4 |
1 | g.17027747A>T | CA338272387 | SDHB | c.369+2T>A (n.369+2T>A) c.498+2T>A (n.498+2T>A) c.540+2T>A (n.540+2T>A) n.459T>A n.474+2T>A | |
1 | g.17027748C>A | CA338272389 | SDHB | c.369+1G>T (n.369+1G>T) c.498+1G>T (n.498+1G>T) c.540+1G>T (n.540+1G>T) n.458G>T n.474+1G>T | |
1 | g.17027748C= | CA1156080154 | SDHB | c.369+1G= (n.369+1G=) c.498+1G= (n.498+1G=) c.540+1G= (n.540+1G=) n.458G= n.474+1G= | |
1 | g.17027748C>G | CA338272391 | SDHB | c.369+1G>C (n.369+1G>C) c.498+1G>C (n.498+1G>C) c.540+1G>C (n.540+1G>C) n.458G>C n.474+1G>C | |
1 | g.17027748C>T | CA338272394 | SDHB | c.369+1G>A (n.369+1G>A) c.498+1G>A (n.498+1G>A) c.540+1G>A (n.540+1G>A) n.458G>A n.474+1G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027750_17028737del | CA645509076 | SDHB | c.117_369+1del c.246_498+1del c.288_540+1del n.205_458del n.276_474+1del | |
1 | g.17027749C>A | CA416085614 | SDHB | c.369G>T (p.Leu123=) c.498G>T (p.Leu166=) c.540G>T (p.Leu180=) n.457G>T n.474G>T | |
1 | g.17027749C= | CA1144324514 | SDHB | c.369G= (p.Leu123=) c.498G= (p.Leu166=) c.540G= (p.Leu180=) n.457G= n.474G= | |
1 | g.17027749C>G | CA416085618 | SDHB | c.369G>C (p.Leu123=) c.498G>C (p.Leu166=) c.540G>C (p.Leu180=) n.457G>C n.474G>C | |
1 | g.17027749C>T | CA089647 | SDHB | c.369G>A (p.Leu123=) c.498G>A (p.Leu166=) c.540G>A (p.Leu180=) n.457G>A n.474G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027750A= | CA1156080155 | SDHB | c.368T= (p.Leu123=) c.497T= (p.Leu166=) c.539T= (p.Leu180=) n.456T= n.473T= | |
1 | g.17027750A>C | CA338272397 | SDHB | c.368T>G (p.Leu123Arg) c.497T>G (p.Leu166Arg) c.539T>G (p.Leu180Arg) n.456T>G n.473T>G | |
1 | g.17027750A>G | CA338272400 | SDHB | c.368T>C (p.Leu123Pro) c.497T>C (p.Leu166Pro) c.539T>C (p.Leu180Pro) n.456T>C n.473T>C | ClinVar dbSNP |
1 | g.17027750A>T | CA338272404 | SDHB | c.368T>A (p.Leu123Gln) c.497T>A (p.Leu166Gln) c.539T>A (p.Leu180Gln) n.456T>A n.473T>A | |
1 | g.17027751G>A | CA416085630 | SDHB | c.367C>T (p.Leu123=) c.496C>T (p.Leu166=) c.538C>T (p.Leu180=) n.455C>T n.472C>T | |
1 | g.17027751G>C | CA338272407 | SDHB | c.367C>G (p.Leu123Val) c.496C>G (p.Leu166Val) c.538C>G (p.Leu180Val) n.455C>G n.472C>G | |
1 | g.17027751G= | CA1156080156 | SDHB | c.367C= (p.Leu123=) c.496C= (p.Leu166=) c.538C= (p.Leu180=) n.455C= n.472C= | |
1 | g.17027751G>T | CA338272409 | SDHB | c.367C>A (p.Leu123Met) c.496C>A (p.Leu166Met) c.538C>A (p.Leu180Met) n.455C>A n.472C>A | gnomAD v4 |
1 | g.17027752T>A | CA338272412 | SDHB | c.366A>T (p.Lys122Asn) c.495A>T (p.Lys165Asn) c.537A>T (p.Lys179Asn) n.454A>T n.471A>T | |
1 | g.17027752T>C | CA416085645 | SDHB | c.366A>G (p.Lys122=) c.495A>G (p.Lys165=) c.537A>G (p.Lys179=) n.454A>G n.471A>G | ClinVar gnomAD v4 |
1 | g.17027752T>G | CA338272415 | SDHB | c.366A>C (p.Lys122Asn) c.495A>C (p.Lys165Asn) c.537A>C (p.Lys179Asn) n.454A>C n.471A>C | |
1 | g.17027754dup | CA658820982 | SDHB | c.366dup (p.Leu123ThrfsTer14) c.495dup (p.Leu166ThrfsTer14) c.537dup (p.Leu180ThrfsTer14) c.366dup (p.Leu123ThrfsTer?) n.454dup n.471dup | ClinVar dbSNP |
1 | g.17027753T>A | CA338272421 | SDHB | c.365A>T (p.Lys122Ile) c.494A>T (p.Lys165Ile) c.536A>T (p.Lys179Ile) n.453A>T n.470A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17027753T>C | CA338272419 | SDHB | c.365A>G (p.Lys122Arg) c.494A>G (p.Lys165Arg) c.536A>G (p.Lys179Arg) n.453A>G n.470A>G | |
1 | g.17027753T>G | CA338272416 | SDHB | c.365A>C (p.Lys122Thr) c.494A>C (p.Lys165Thr) c.536A>C (p.Lys179Thr) n.453A>C n.470A>C | |
1 | g.17027753T= | CA1156080157 | SDHB | c.365A= (p.Lys122=) c.494A= (p.Lys165=) c.536A= (p.Lys179=) n.453A= n.470A= | |
1 | g.17027754T>A | CA338272424 | SDHB | c.364A>T (p.Lys122Ter) c.493A>T (p.Lys165Ter) c.535A>T (p.Lys179Ter) n.452A>T n.469A>T | |
1 | g.17027754T>C | CA338272429 | SDHB | c.364A>G (p.Lys122Glu) c.493A>G (p.Lys165Glu) c.535A>G (p.Lys179Glu) n.452A>G n.469A>G | |
1 | g.17027754T>G | CA338272427 | SDHB | c.364A>C (p.Lys122Gln) c.493A>C (p.Lys165Gln) c.535A>C (p.Lys179Gln) n.452A>C n.469A>C | |
1 | g.17027755C>A | CA338272431 | SDHB | c.363G>T (p.Glu121Asp) c.492G>T (p.Glu164Asp) c.534G>T (p.Glu178Asp) n.451G>T n.468G>T | ClinVar dbSNP |
1 | g.17027755C= | CA1156080158 | SDHB | c.363G= (p.Glu121=) c.492G= (p.Glu164=) c.534G= (p.Glu178=) n.451G= n.468G= | |
1 | g.17027755C>G | CA338272433 | SDHB | c.363G>C (p.Glu121Asp) c.492G>C (p.Glu164Asp) c.534G>C (p.Glu178Asp) n.451G>C n.468G>C | |
1 | g.17027755C>T | CA416085665 | SDHB | c.363G>A (p.Glu121=) c.492G>A (p.Glu164=) c.534G>A (p.Glu178=) n.451G>A n.468G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027756T>A | CA338272434 | SDHB | c.362A>T (p.Glu121Val) c.491A>T (p.Glu164Val) c.533A>T (p.Glu178Val) n.450A>T n.467A>T | ClinVar dbSNP |
1 | g.17027756T>C | CA338272439 | SDHB | c.362A>G (p.Glu121Gly) c.491A>G (p.Glu164Gly) c.533A>G (p.Glu178Gly) n.450A>G n.467A>G | |
1 | g.17027756T>G | CA338272436 | SDHB | c.362A>C (p.Glu121Ala) c.491A>C (p.Glu164Ala) c.533A>C (p.Glu178Ala) n.450A>C n.467A>C | |
1 | g.17027757C>A | CA338272447 | SDHB | c.361G>T (p.Glu121Ter) c.490G>T (p.Glu164Ter) c.532G>T (p.Glu178Ter) n.449G>T n.466G>T | |
1 | g.17027757C= | CA1156080159 | SDHB | c.361G= (p.Glu121=) c.490G= (p.Glu164=) c.532G= (p.Glu178=) n.449G= n.466G= | |
1 | g.17027757C>G | CA338272453 | SDHB | c.361G>C (p.Glu121Gln) c.490G>C (p.Glu164Gln) c.532G>C (p.Glu178Gln) n.449G>C n.466G>C | ClinVar dbSNP gnomAD v4 |
1 | g.17027757C>T | CA338272450 | SDHB | c.361G>A (p.Glu121Lys) c.490G>A (p.Glu164Lys) c.532G>A (p.Glu178Lys) n.449G>A n.466G>A | |
1 | g.17027758A>C | CA416085678 | SDHB | c.360T>G (p.Arg120=) c.489T>G (p.Arg163=) c.531T>G (p.Arg177=) n.448T>G n.465T>G | gnomAD v4 |
1 | g.17027758A>G | CA416085681 | SDHB | c.360T>C (p.Arg120=) c.489T>C (p.Arg163=) c.531T>C (p.Arg177=) n.448T>C n.465T>C | |
1 | g.17027758A>T | CA416085682 | SDHB | c.360T>A (p.Arg120=) c.489T>A (p.Arg163=) c.531T>A (p.Arg177=) n.448T>A n.465T>A | |
1 | g.17027759C>A | CA338272456 | SDHB | c.359G>T (p.Arg120Leu) c.488G>T (p.Arg163Leu) c.530G>T (p.Arg177Leu) n.447G>T n.464G>T | ClinVar dbSNP |
1 | g.17027759C= | CA1142363913 | SDHB | c.359G= (p.Arg120=) c.488G= (p.Arg163=) c.530G= (p.Arg177=) n.447G= n.464G= | |
1 | g.17027759C>G | CA338272458 | SDHB | c.359G>C (p.Arg120Pro) c.488G>C (p.Arg163Pro) c.530G>C (p.Arg177Pro) n.447G>C n.464G>C | |
1 | g.17027759C>T | CA089641 | SDHB | c.359G>A (p.Arg120His) c.488G>A (p.Arg163His) c.530G>A (p.Arg177His) n.447G>A n.464G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027760G>A | CA089640 | SDHB | c.358C>T (p.Arg120Cys) c.487C>T (p.Arg163Cys) c.529C>T (p.Arg177Cys) n.446C>T n.463C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027760G>C | CA338272485 | SDHB | c.358C>G (p.Arg120Gly) c.487C>G (p.Arg163Gly) c.529C>G (p.Arg177Gly) n.446C>G n.463C>G | ClinVar gnomAD v4 |
1 | g.17027760G= | CA1142280515 | SDHB | c.358C= (p.Arg120=) c.487C= (p.Arg163=) c.529C= (p.Arg177=) n.446C= n.463C= | |
1 | g.17027760G>T | CA10581746 | SDHB | c.358C>A (p.Arg120Ser) c.487C>A (p.Arg163Ser) c.529C>A (p.Arg177Ser) n.446C>A n.463C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17027761C>A | CA338272490 | SDHB | c.357G>T (p.Glu119Asp) c.486G>T (p.Glu162Asp) c.528G>T (p.Glu176Asp) n.445G>T n.462G>T | |
1 | g.17027761C>G | CA338272492 | SDHB | c.357G>C (p.Glu119Asp) c.486G>C (p.Glu162Asp) c.528G>C (p.Glu176Asp) n.445G>C n.462G>C | |
1 | g.17027761C>T | CA416085696 | SDHB | c.357G>A (p.Glu119=) c.486G>A (p.Glu162=) c.528G>A (p.Glu176=) n.445G>A n.462G>A | ClinVar |
1 | g.17027761_17027766delinsCTCTTC | CA1156080160 | SDHB | c.352_357delinsGAAGAG (p.Glu118=) c.481_486delinsGAAGAG (p.Glu161=) c.523_528delinsGAAGAG (p.Glu175=) n.440_445delinsGAAGAG n.457_462delinsGAAGAG | |
1 | g.17027762T>A | CA338272496 | SDHB | c.356A>T (p.Glu119Val) c.485A>T (p.Glu162Val) c.527A>T (p.Glu176Val) n.444A>T n.461A>T | |
1 | g.17027762T>C | CA089639 | SDHB | c.356A>G (p.Glu119Gly) c.485A>G (p.Glu162Gly) c.527A>G (p.Glu176Gly) n.444A>G n.461A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027762T>G | CA338272500 | SDHB | c.356A>C (p.Glu119Ala) c.485A>C (p.Glu162Ala) c.527A>C (p.Glu176Ala) n.444A>C n.461A>C | |
1 | g.17027762T= | CA1143459197 | SDHB | c.356A= (p.Glu119=) c.485A= (p.Glu162=) c.527A= (p.Glu176=) n.444A= n.461A= | |
1 | g.17027762_17027766delinsCCTT | CA645509077 | SDHB | c.352_356delinsAAGG (p.Glu118LysfsTer?) c.481_485delinsAAGG (p.Glu161LysfsTer?) c.523_527delinsAAGG (p.Glu175LysfsTer?) n.440_444delinsAAGG n.457_461delinsAAGG | ClinVar dbSNP |
1 | g.17027763C>A | CA015940 | SDHB | c.355G>T (p.Glu119Ter) c.484G>T (p.Glu162Ter) c.526G>T (p.Glu176Ter) n.443G>T n.460G>T | ClinVar dbSNP gnomAD v4 |
1 | g.17027763C= | CA1156080161 | SDHB | c.355G= (p.Glu119=) c.484G= (p.Glu162=) c.526G= (p.Glu176=) n.443G= n.460G= | |
1 | g.17027763C>G | CA338272505 | SDHB | c.355G>C (p.Glu119Gln) c.484G>C (p.Glu162Gln) c.526G>C (p.Glu176Gln) n.443G>C n.460G>C | dbSNP |
1 | g.17027763C>T | CA338272503 | SDHB | c.355G>A (p.Glu119Lys) c.484G>A (p.Glu162Lys) c.526G>A (p.Glu176Lys) n.443G>A n.460G>A | ClinVar |
1 | g.17027764T>A | CA338272508 | SDHB | c.354A>T (p.Glu118Asp) c.483A>T (p.Glu161Asp) c.525A>T (p.Glu175Asp) n.442A>T n.459A>T | |
1 | g.17027764T>C | CA416085716 | SDHB | c.354A>G (p.Glu118=) c.483A>G (p.Glu161=) c.525A>G (p.Glu175=) n.442A>G n.459A>G | |
1 | g.17027764T>G | CA338272509 | SDHB | c.354A>C (p.Glu118Asp) c.483A>C (p.Glu161Asp) c.525A>C (p.Glu175Asp) n.442A>C n.459A>C | |
1 | g.17027765T>A | CA338272510 | SDHB | c.353A>T (p.Glu118Val) c.482A>T (p.Glu161Val) c.524A>T (p.Glu175Val) n.441A>T n.458A>T | |
1 | g.17027765T>C | CA089638 | SDHB | c.353A>G (p.Glu118Gly) c.482A>G (p.Glu161Gly) c.524A>G (p.Glu175Gly) n.441A>G n.458A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17027765T>G | CA338272511 | SDHB | c.353A>C (p.Glu118Ala) c.482A>C (p.Glu161Ala) c.524A>C (p.Glu175Ala) n.441A>C n.458A>C | |
1 | g.17027765T= | CA1148402004 | SDHB | c.353A= (p.Glu118=) c.482A= (p.Glu161=) c.524A= (p.Glu175=) n.441A= n.458A= | |
1 | g.17027766del | CA2838032011 | SDHB | c.352del (p.Glu118LysfsTer?) c.481del (p.Glu161LysfsTer?) c.523del (p.Glu175LysfsTer?) n.440del n.457del | |
1 | g.17027766C>A | CA338272512 | SDHB | c.352G>T (p.Glu118Ter) c.481G>T (p.Glu161Ter) c.523G>T (p.Glu175Ter) n.440G>T n.457G>T | |
1 | g.17027766C= | CA1143531997 | SDHB | c.352G= (p.Glu118=) c.481G= (p.Glu161=) c.523G= (p.Glu175=) n.440G= n.457G= | |
1 | g.17027766C>G | CA18665895 | SDHB | c.352G>C (p.Glu118Gln) c.481G>C (p.Glu161Gln) c.523G>C (p.Glu175Gln) n.440G>C n.457G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027766C>T | CA338272514 | SDHB | c.352G>A (p.Glu118Lys) c.481G>A (p.Glu161Lys) c.523G>A (p.Glu175Lys) n.440G>A n.457G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027766dup | CA1139655466 | SDHB | c.352dup (p.Glu118GlyfsTer4) c.481dup (p.Glu161GlyfsTer4) c.523dup (p.Glu175GlyfsTer4) n.440dup n.457dup | ClinVar dbSNP |
1 | g.17027767T>A | CA416085738 | SDHB | c.351A>T (p.Ile117=) c.480A>T (p.Ile160=) c.522A>T (p.Ile174=) n.439A>T n.456A>T | |
1 | g.17027767T>C | CA338272516 | SDHB | c.351A>G (p.Ile117Met) c.480A>G (p.Ile160Met) c.522A>G (p.Ile174Met) n.439A>G n.456A>G | ClinVar dbSNP |
1 | g.17027767T>G | CA416085739 | SDHB | c.351A>C (p.Ile117=) c.480A>C (p.Ile160=) c.522A>C (p.Ile174=) n.439A>C n.456A>C | |
1 | g.17027768A= | CA1143408092 | SDHB | c.350T= (p.Ile117=) c.479T= (p.Ile160=) c.521T= (p.Ile174=) n.438T= n.455T= | |
1 | g.17027768A>C | CA338272526 | SDHB | c.350T>G (p.Ile117Arg) c.479T>G (p.Ile160Arg) c.521T>G (p.Ile174Arg) n.438T>G n.455T>G | |
1 | g.17027768A>G | CA16609935 | SDHB | c.350T>C (p.Ile117Thr) c.479T>C (p.Ile160Thr) c.521T>C (p.Ile174Thr) n.438T>C n.455T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027768A>T | CA338272520 | SDHB | c.350T>A (p.Ile117Lys) c.479T>A (p.Ile160Lys) c.521T>A (p.Ile174Lys) n.438T>A n.455T>A | |
1 | g.17027769T>A | CA338272532 | SDHB | c.349A>T (p.Ile117Leu) c.478A>T (p.Ile160Leu) c.520A>T (p.Ile174Leu) n.437A>T n.454A>T | |
1 | g.17027769T>C | CA18665905 | SDHB | c.349A>G (p.Ile117Val) c.478A>G (p.Ile160Val) c.520A>G (p.Ile174Val) n.437A>G n.454A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027769T>G | CA338272537 | SDHB | c.349A>C (p.Ile117Leu) c.478A>C (p.Ile160Leu) c.520A>C (p.Ile174Leu) n.437A>C n.454A>C | |
1 | g.17027769T= | CA1156080162 | SDHB | c.349A= (p.Ile117=) c.478A= (p.Ile160=) c.520A= (p.Ile174=) n.437A= n.454A= | |
1 | g.17027770G>A | CA089637 | SDHB | c.348C>T (p.Ser116=) c.477C>T (p.Ser159=) c.519C>T (p.Ser173=) n.436C>T n.453C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17027770G>C | CA416085776 | SDHB | c.348C>G (p.Ser116=) c.477C>G (p.Ser159=) c.519C>G (p.Ser173=) n.436C>G n.453C>G | |
1 | g.17027770G= | CA1156080163 | SDHB | c.348C= (p.Ser116=) c.477C= (p.Ser159=) c.519C= (p.Ser173=) n.436C= n.453C= | |
1 | g.17027770G>T | CA416085779 | SDHB | c.348C>A (p.Ser116=) c.477C>A (p.Ser159=) c.519C>A (p.Ser173=) n.436C>A n.453C>A | gnomAD v4 |
1 | g.17027771G>A | CA18665918 | SDHB | c.347C>T (p.Ser116Phe) c.476C>T (p.Ser159Phe) c.518C>T (p.Ser173Phe) n.435C>T n.452C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027771G>C | CA338272542 | SDHB | c.347C>G (p.Ser116Cys) c.476C>G (p.Ser159Cys) c.518C>G (p.Ser173Cys) n.435C>G n.452C>G | |
1 | g.17027771G= | CA1156080164 | SDHB | c.347C= (p.Ser116=) c.476C= (p.Ser159=) c.518C= (p.Ser173=) n.435C= n.452C= | |
1 | g.17027771G>T | CA338272541 | SDHB | c.347C>A (p.Ser116Tyr) c.476C>A (p.Ser159Tyr) c.518C>A (p.Ser173Tyr) n.435C>A n.452C>A | gnomAD v4 |
1 | g.17027772A= | CA1156080165 | SDHB | c.346T= (p.Ser116=) c.475T= (p.Ser159=) c.517T= (p.Ser173=) n.434T= n.451T= | |
1 | g.17027772A>C | CA338272543 | SDHB | c.346T>G (p.Ser116Ala) c.475T>G (p.Ser159Ala) c.517T>G (p.Ser173Ala) n.434T>G n.451T>G | |
1 | g.17027772A>G | CA338272544 | SDHB | c.346T>C (p.Ser116Pro) c.475T>C (p.Ser159Pro) c.517T>C (p.Ser173Pro) n.434T>C n.451T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17027772A>T | CA338272545 | SDHB | c.346T>A (p.Ser116Thr) c.475T>A (p.Ser159Thr) c.517T>A (p.Ser173Thr) n.434T>A n.451T>A | |
1 | g.17027773C>A | CA338272546 | SDHB | c.345G>T (p.Gln115His) c.474G>T (p.Gln158His) c.516G>T (p.Gln172His) n.433G>T n.450G>T | gnomAD v4 |
1 | g.17027773C= | CA1141648122 | SDHB | c.345G= (p.Gln115=) c.474G= (p.Gln158=) c.516G= (p.Gln172=) n.433G= n.450G= | |
1 | g.17027773C>G | CA338272547 | SDHB | c.345G>C (p.Gln115His) c.474G>C (p.Gln158His) c.516G>C (p.Gln172His) n.433G>C n.450G>C | |
1 | g.17027773C>T | CA18665926 | SDHB | c.345G>A (p.Gln115=) c.474G>A (p.Gln158=) c.516G>A (p.Gln172=) n.433G>A n.450G>A | ClinVar dbSNP |
1 | g.17027774T>A | CA338272551 | SDHB | c.344A>T (p.Gln115Leu) c.473A>T (p.Gln158Leu) c.515A>T (p.Gln172Leu) n.432A>T n.449A>T | |
1 | g.17027774T>C | CA338272556 | SDHB | c.344A>G (p.Gln115Arg) c.473A>G (p.Gln158Arg) c.515A>G (p.Gln172Arg) n.432A>G n.449A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17027774T>G | CA338272554 | SDHB | c.344A>C (p.Gln115Pro) c.473A>C (p.Gln158Pro) c.515A>C (p.Gln172Pro) n.432A>C n.449A>C | |
1 | g.17027774T= | CA1156080166 | SDHB | c.344A= (p.Gln115=) c.473A= (p.Gln158=) c.515A= (p.Gln172=) n.432A= n.449A= | |
1 | g.17027775G>A | CA338272564 | SDHB | c.343C>T (p.Gln115Ter) c.472C>T (p.Gln158Ter) c.514C>T (p.Gln172Ter) n.431C>T n.448C>T | gnomAD v4 |
1 | g.17027775G>C | CA338272565 | SDHB | c.343C>G (p.Gln115Glu) c.472C>G (p.Gln158Glu) c.514C>G (p.Gln172Glu) n.431C>G n.448C>G | |
1 | g.17027775G>T | CA338272567 | SDHB | c.343C>A (p.Gln115Lys) c.472C>A (p.Gln158Lys) c.514C>A (p.Gln172Lys) n.431C>A n.448C>A | gnomAD v4 |
1 | g.17027776C>A | CA416085824 | SDHB | c.342G>T (p.Leu114=) c.471G>T (p.Leu157=) c.513G>T (p.Leu171=) n.430G>T n.447G>T | |
1 | g.17027776C>G | CA416085827 | SDHB | c.342G>C (p.Leu114=) c.471G>C (p.Leu157=) c.513G>C (p.Leu171=) n.430G>C n.447G>C | |
1 | g.17027776C>T | CA416085826 | SDHB | c.342G>A (p.Leu114=) c.471G>A (p.Leu157=) c.513G>A (p.Leu171=) n.430G>A n.447G>A | ClinVar dbSNP |
1 | g.17027777A>C | CA338272570 | SDHB | c.341T>G (p.Leu114Arg) c.470T>G (p.Leu157Arg) c.512T>G (p.Leu171Arg) n.429T>G n.446T>G | |
1 | g.17027777A>G | CA338272578 | SDHB | c.341T>C (p.Leu114Pro) c.470T>C (p.Leu157Pro) c.512T>C (p.Leu171Pro) n.429T>C n.446T>C | gnomAD v4 |
1 | g.17027777A>T | CA338272579 | SDHB | c.341T>A (p.Leu114Gln) c.470T>A (p.Leu157Gln) c.512T>A (p.Leu171Gln) n.429T>A n.446T>A | |
1 | g.17027778del | CA2573051409 | SDHB | c.340del (p.Leu114CysfsTer4) c.469del (p.Leu157CysfsTer4) c.511del (p.Leu171CysfsTer4) n.428del n.445del | dbSNP |
1 | g.17027778G>A | CA089636 | SDHB | c.340C>T (p.Leu114=) c.469C>T (p.Leu157=) c.511C>T (p.Leu171=) n.428C>T n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17027778G>C | CA338272583 | SDHB | c.340C>G (p.Leu114Val) c.469C>G (p.Leu157Val) c.511C>G (p.Leu171Val) n.428C>G n.445C>G | ClinVar |
1 | g.17027778G= | CA1156080167 | SDHB | c.340C= (p.Leu114=) c.469C= (p.Leu157=) c.511C= (p.Leu171=) n.428C= n.445C= | |
1 | g.17027778G>T | CA338272585 | SDHB | c.340C>A (p.Leu114Met) c.469C>A (p.Leu157Met) c.511C>A (p.Leu171Met) n.428C>A n.445C>A | gnomAD v4 |
1 | g.17027779A>C | CA338272587 | SDHB | c.339T>G (p.Tyr113Ter) c.468T>G (p.Tyr156Ter) c.510T>G (p.Tyr170Ter) n.427T>G n.444T>G | |
1 | g.17027779A>G | CA416085845 | SDHB | c.339T>C (p.Tyr113=) c.468T>C (p.Tyr156=) c.510T>C (p.Tyr170=) n.427T>C n.444T>C | |
1 | g.17027779A>T | CA338272589 | SDHB | c.339T>A (p.Tyr113Ter) c.468T>A (p.Tyr156Ter) c.510T>A (p.Tyr170Ter) n.427T>A n.444T>A | |
1 | g.17027780T>A | CA338272593 | SDHB | c.338A>T (p.Tyr113Phe) c.467A>T (p.Tyr156Phe) c.509A>T (p.Tyr170Phe) n.426A>T n.443A>T | |
1 | g.17027780T>C | CA338272595 | SDHB | c.338A>G (p.Tyr113Cys) c.467A>G (p.Tyr156Cys) c.509A>G (p.Tyr170Cys) n.426A>G n.443A>G | |
1 | g.17027780T>G | CA338272591 | SDHB | c.338A>C (p.Tyr113Ser) c.467A>C (p.Tyr156Ser) c.509A>C (p.Tyr170Ser) n.426A>C n.443A>C | |
1 | g.17027781A>C | CA338272596 | SDHB | c.337T>G (p.Tyr113Asp) c.466T>G (p.Tyr156Asp) c.508T>G (p.Tyr170Asp) n.425T>G n.442T>G | |
1 | g.17027781A>G | CA338272599 | SDHB | c.337T>C (p.Tyr113His) c.466T>C (p.Tyr156His) c.508T>C (p.Tyr170His) n.425T>C n.442T>C | ClinVar |
1 | g.17027781A>T | CA338272602 | SDHB | c.337T>A (p.Tyr113Asn) c.466T>A (p.Tyr156Asn) c.508T>A (p.Tyr170Asn) n.425T>A n.442T>A | |
1 | g.17027781dup | CA2586964056 | SDHB | c.337dup (p.Tyr113LeufsTer9) c.466dup (p.Tyr156LeufsTer9) c.508dup (p.Tyr170LeufsTer9) n.425dup n.442dup | ClinVar |
1 | g.17027782C>A | CA338272605 | SDHB | c.336G>T (p.Gln112His) c.465G>T (p.Gln155His) c.507G>T (p.Gln169His) n.424G>T n.441G>T | |
1 | g.17027782C>G | CA338272608 | SDHB | c.336G>C (p.Gln112His) c.465G>C (p.Gln155His) c.507G>C (p.Gln169His) n.424G>C n.441G>C | |
1 | g.17027782C>T | CA416085864 | SDHB | c.336G>A (p.Gln112=) c.465G>A (p.Gln155=) c.507G>A (p.Gln169=) n.424G>A n.441G>A | ClinVar dbSNP |
1 | g.17027783T>A | CA338272610 | SDHB | c.335A>T (p.Gln112Leu) c.464A>T (p.Gln155Leu) c.506A>T (p.Gln169Leu) n.423A>T n.440A>T | |
1 | g.17027783T>C | CA338272611 | SDHB | c.335A>G (p.Gln112Arg) c.464A>G (p.Gln155Arg) c.506A>G (p.Gln169Arg) n.423A>G n.440A>G | ClinVar |
1 | g.17027783T>G | CA338272620 | SDHB | c.335A>C (p.Gln112Pro) c.464A>C (p.Gln155Pro) c.506A>C (p.Gln169Pro) n.423A>C n.440A>C | |
1 | g.17027784G>A | CA16602226 | SDHB | c.334C>T (p.Gln112Ter) c.463C>T (p.Gln155Ter) c.505C>T (p.Gln169Ter) n.422C>T n.439C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17027784G>C | CA338272629 | SDHB | c.334C>G (p.Gln112Glu) c.463C>G (p.Gln155Glu) c.505C>G (p.Gln169Glu) n.422C>G n.439C>G | ClinVar dbSNP gnomAD v4 |
1 | g.17027784G= | CA1156080168 | SDHB | c.334C= (p.Gln112=) c.463C= (p.Gln155=) c.505C= (p.Gln169=) n.422C= n.439C= | |
1 | g.17027784G>T | CA338272631 | SDHB | c.334C>A (p.Gln112Lys) c.463C>A (p.Gln155Lys) c.505C>A (p.Gln169Lys) n.422C>A n.439C>A | gnomAD v4 |
1 | g.17027785C>A | CA338272634 | SDHB | c.333G>T (p.Gln111His) c.462G>T (p.Gln154His) c.504G>T (p.Gln168His) n.421G>T n.438G>T | |
1 | g.17027785C>G | CA338272637 | SDHB | c.333G>C (p.Gln111His) c.462G>C (p.Gln154His) c.504G>C (p.Gln168His) n.421G>C n.438G>C | |
1 | g.17027785C>T | CA416085874 | SDHB | c.333G>A (p.Gln111=) c.462G>A (p.Gln154=) c.504G>A (p.Gln168=) n.421G>A n.438G>A | dbSNP |
1 | g.17027786T>A | CA338272659 | SDHB | c.332A>T (p.Gln111Leu) c.461A>T (p.Gln154Leu) c.503A>T (p.Gln168Leu) n.420A>T n.437A>T | |
1 | g.17027786T>C | CA338272655 | SDHB | c.332A>G (p.Gln111Arg) c.461A>G (p.Gln154Arg) c.503A>G (p.Gln168Arg) n.420A>G n.437A>G | ClinVar |
1 | g.17027786T>G | CA338272652 | SDHB | c.332A>C (p.Gln111Pro) c.461A>C (p.Gln154Pro) c.503A>C (p.Gln168Pro) n.420A>C n.437A>C | |
1 | g.17027786dup | CA2586964058 | SDHB | c.332dup (p.Gln112AlafsTer10) c.461dup (p.Gln155AlafsTer10) c.503dup (p.Gln169AlafsTer10) n.420dup n.437dup | |
1 | g.17027787G>A | CA338272662 | SDHB | c.331C>T (p.Gln111Ter) c.460C>T (p.Gln154Ter) c.502C>T (p.Gln168Ter) n.419C>T n.436C>T | ClinVar dbSNP |
1 | g.17027787G>C | CA338272676 | SDHB | c.331C>G (p.Gln111Glu) c.460C>G (p.Gln154Glu) c.502C>G (p.Gln168Glu) n.419C>G n.436C>G | |
1 | g.17027787G= | CA1156080169 | SDHB | c.331C= (p.Gln111=) c.460C= (p.Gln154=) c.502C= (p.Gln168=) n.419C= n.436C= | |
1 | g.17027787G>T | CA338272678 | SDHB | c.331C>A (p.Gln111Lys) c.460C>A (p.Gln154Lys) c.502C>A (p.Gln168Lys) n.419C>A n.436C>A | gnomAD v4 |
1 | g.17027787dup | CA658655542 | SDHB | c.331dup (p.Gln111ProfsTer11) c.460dup (p.Gln154ProfsTer11) c.502dup (p.Gln168ProfsTer11) n.419dup n.436dup | |
1 | g.17027788C>A | CA338272680 | SDHB | c.330G>T (p.Lys110Asn) c.459G>T (p.Lys153Asn) c.501G>T (p.Lys167Asn) n.418G>T n.435G>T | ClinVar dbSNP gnomAD v4 |
1 | g.17027788C= | CA1156080170 | SDHB | c.330G= (p.Lys110=) c.459G= (p.Lys153=) c.501G= (p.Lys167=) n.418G= n.435G= | |
1 | g.17027788C>G | CA338272684 | SDHB | c.330G>C (p.Lys110Asn) c.459G>C (p.Lys153Asn) c.501G>C (p.Lys167Asn) n.418G>C n.435G>C | |
1 | g.17027788C>T | CA416085892 | SDHB | c.330G>A (p.Lys110=) c.459G>A (p.Lys153=) c.501G>A (p.Lys167=) n.418G>A n.435G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027788_17027789delinsAG | CA1139655468 | SDHB | c.329_330delinsCT (p.Lys110Thr) c.458_459delinsCT (p.Lys153Thr) c.500_501delinsCT (p.Lys167Thr) n.417_418delinsCT n.434_435delinsCT | ClinVar |
1 | g.17027789T>A | CA338272687 | SDHB | c.329A>T (p.Lys110Met) c.458A>T (p.Lys153Met) c.500A>T (p.Lys167Met) n.417A>T n.434A>T | |
1 | g.17027789T>C | CA338272692 | SDHB | c.329A>G (p.Lys110Arg) c.458A>G (p.Lys153Arg) c.500A>G (p.Lys167Arg) n.417A>G n.434A>G | ClinVar |
1 | g.17027789T>G | CA338272693 | SDHB | c.329A>C (p.Lys110Thr) c.458A>C (p.Lys153Thr) c.500A>C (p.Lys167Thr) n.417A>C n.434A>C | gnomAD v4 |
1 | g.17027790T>A | CA16609934 | SDHB | c.328A>T (p.Lys110Ter) c.457A>T (p.Lys153Ter) c.499A>T (p.Lys167Ter) n.416A>T n.433A>T | ClinVar dbSNP |
1 | g.17027790T>C | CA338272695 | SDHB | c.328A>G (p.Lys110Glu) c.457A>G (p.Lys153Glu) c.499A>G (p.Lys167Glu) n.416A>G n.433A>G | |
1 | g.17027790T>G | CA338272696 | SDHB | c.328A>C (p.Lys110Gln) c.457A>C (p.Lys153Gln) c.499A>C (p.Lys167Gln) n.416A>C n.433A>C | |
1 | g.17027790T= | CA1156080171 | SDHB | c.328A= (p.Lys110=) c.457A= (p.Lys153=) c.499A= (p.Lys167=) n.416A= n.433A= | |
1 | g.17027791del | CA2830782440 | SDHB | c.327del (p.Lys110SerfsTer8) c.456del (p.Lys153SerfsTer8) c.498del (p.Lys167SerfsTer8) n.415del n.432del | |
1 | g.17027791G>A | CA416085918 | SDHB | c.327C>T (p.Gly109=) c.456C>T (p.Gly152=) c.498C>T (p.Gly166=) n.415C>T n.432C>T | |
1 | g.17027791G>C | CA416085915 | SDHB | c.327C>G (p.Gly109=) c.456C>G (p.Gly152=) c.498C>G (p.Gly166=) n.415C>G n.432C>G | |
1 | g.17027791G>T | CA416085919 | SDHB | c.327C>A (p.Gly109=) c.456C>A (p.Gly152=) c.498C>A (p.Gly166=) n.415C>A n.432C>A | |
1 | g.17027792C>A | CA338272697 | SDHB | c.326G>T (p.Gly109Val) c.455G>T (p.Gly152Val) c.497G>T (p.Gly166Val) n.414G>T n.431G>T | |
1 | g.17027792C= | CA1156080172 | SDHB | c.326G= (p.Gly109=) c.455G= (p.Gly152=) c.497G= (p.Gly166=) n.414G= n.431G= | |
1 | g.17027792C>G | CA338272698 | SDHB | c.326G>C (p.Gly109Ala) c.455G>C (p.Gly152Ala) c.497G>C (p.Gly166Ala) n.414G>C n.431G>C | |
1 | g.17027792C>T | CA16609936 | SDHB | c.326G>A (p.Gly109Asp) c.455G>A (p.Gly152Asp) c.497G>A (p.Gly166Asp) n.414G>A n.431G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027795_17027798del | CA2573334482 | SDHB | c.323_326del (p.Glu108AlafsTer9) c.452_455del (p.Glu151AlafsTer9) c.494_497del (p.Glu165AlafsTer9) n.411_414del n.428_431del | |
1 | g.17027793C>A | CA338272705 | SDHB | c.325G>T (p.Gly109Cys) c.454G>T (p.Gly152Cys) c.496G>T (p.Gly166Cys) n.413G>T n.430G>T | |
1 | g.17027793C>G | CA338272706 | SDHB | c.325G>C (p.Gly109Arg) c.454G>C (p.Gly152Arg) c.496G>C (p.Gly166Arg) n.413G>C n.430G>C | ClinVar |
1 | g.17027793C>T | CA338272701 | SDHB | c.325G>A (p.Gly109Ser) c.454G>A (p.Gly152Ser) c.496G>A (p.Gly166Ser) n.413G>A n.430G>A | gnomAD v4 |
1 | g.17027794T>A | CA338272708 | SDHB | c.324A>T (p.Glu108Asp) c.453A>T (p.Glu151Asp) c.495A>T (p.Glu165Asp) n.412A>T n.429A>T | |
1 | g.17027794T>C | CA416085942 | SDHB | c.324A>G (p.Glu108=) c.453A>G (p.Glu151=) c.495A>G (p.Glu165=) n.412A>G n.429A>G | gnomAD v4 |
1 | g.17027794T>G | CA338272710 | SDHB | c.324A>C (p.Glu108Asp) c.453A>C (p.Glu151Asp) c.495A>C (p.Glu165Asp) n.412A>C n.429A>C | |
1 | g.17027795T>A | CA338272712 | SDHB | c.323A>T (p.Glu108Val) c.452A>T (p.Glu151Val) c.494A>T (p.Glu165Val) n.411A>T n.428A>T | |
1 | g.17027795T>C | CA338272716 | SDHB | c.323A>G (p.Glu108Gly) c.452A>G (p.Glu151Gly) c.494A>G (p.Glu165Gly) n.411A>G n.428A>G | |
1 | g.17027795T>G | CA338272718 | SDHB | c.323A>C (p.Glu108Ala) c.452A>C (p.Glu151Ala) c.494A>C (p.Glu165Ala) n.411A>C n.428A>C | |
1 | g.17027796C>A | CA338272720 | SDHB | c.322G>T (p.Glu108Ter) c.451G>T (p.Glu151Ter) c.493G>T (p.Glu165Ter) n.410G>T n.427G>T | |
1 | g.17027796C>G | CA338272721 | SDHB | c.322G>C (p.Glu108Gln) c.451G>C (p.Glu151Gln) c.493G>C (p.Glu165Gln) n.410G>C n.427G>C | |
1 | g.17027796C>T | CA338272724 | SDHB | c.322G>A (p.Glu108Lys) c.451G>A (p.Glu151Lys) c.493G>A (p.Glu165Lys) n.410G>A n.427G>A | ClinVar dbSNP |
1 | g.17027797del | CA658655541 | SDHB | c.322del (p.Glu108LysfsTer10) c.451del (p.Glu151LysfsTer10) c.493del (p.Glu165LysfsTer10) n.410del n.427del | |
1 | g.17027797C>A | CA338272726 | SDHB | c.321G>T (p.Gln107His) c.450G>T (p.Gln150His) c.492G>T (p.Gln164His) n.409G>T n.426G>T | |
1 | g.17027797C>G | CA338272734 | SDHB | c.321G>C (p.Gln107His) c.450G>C (p.Gln150His) c.492G>C (p.Gln164His) n.409G>C n.426G>C | |
1 | g.17027797C>T | CA416085962 | SDHB | c.321G>A (p.Gln107=) c.450G>A (p.Gln150=) c.492G>A (p.Gln164=) n.409G>A n.426G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027797_17027798delinsCT | CA1156080173 | SDHB | c.320_321delinsAG (p.Gln107=) c.449_450delinsAG (p.Gln150=) c.491_492delinsAG (p.Gln164=) n.408_409delinsAG n.425_426delinsAG | |
1 | g.17027798del | CA658795404 | SDHB | c.320del (p.Gln107ArgfsTer11) c.449del (p.Gln150ArgfsTer11) c.491del (p.Gln164ArgfsTer11) n.408del n.425del | ClinVar dbSNP |
1 | g.17027798T>A | CA338272736 | SDHB | c.320A>T (p.Gln107Leu) c.449A>T (p.Gln150Leu) c.491A>T (p.Gln164Leu) n.408A>T n.425A>T | |
1 | g.17027798T>C | CA089634 | SDHB | c.320A>G (p.Gln107Arg) c.449A>G (p.Gln150Arg) c.491A>G (p.Gln164Arg) n.408A>G n.425A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027798T>G | CA338272743 | SDHB | c.320A>C (p.Gln107Pro) c.449A>C (p.Gln150Pro) c.491A>C (p.Gln164Pro) n.408A>C n.425A>C | |
1 | g.17027798T= | CA1148714518 | SDHB | c.320A= (p.Gln107=) c.449A= (p.Gln150=) c.491A= (p.Gln164=) n.408A= n.425A= | |
1 | g.17027799G>A | CA338272750 | SDHB | c.319C>T (p.Gln107Ter) c.448C>T (p.Gln150Ter) c.490C>T (p.Gln164Ter) n.407C>T n.424C>T | ClinVar dbSNP |
1 | g.17027799G>C | CA338272746 | SDHB | c.319C>G (p.Gln107Glu) c.448C>G (p.Gln150Glu) c.490C>G (p.Gln164Glu) n.407C>G n.424C>G | |
1 | g.17027799G= | CA1156080174 | SDHB | c.319C= (p.Gln107=) c.448C= (p.Gln150=) c.490C= (p.Gln164=) n.407C= n.424C= | |
1 | g.17027799G>T | CA338272748 | SDHB | c.319C>A (p.Gln107Lys) c.448C>A (p.Gln150Lys) c.490C>A (p.Gln164Lys) n.407C>A n.424C>A | |
1 | g.17027800A>C | CA416085976 | SDHB | c.318T>G (p.Ser106=) c.447T>G (p.Ser149=) c.489T>G (p.Ser163=) n.406T>G n.423T>G | |
1 | g.17027800A>G | CA416085979 | SDHB | c.318T>C (p.Ser106=) c.447T>C (p.Ser149=) c.489T>C (p.Ser163=) n.406T>C n.423T>C | |
1 | g.17027800A>T | CA416085981 | SDHB | c.318T>A (p.Ser106=) c.447T>A (p.Ser149=) c.489T>A (p.Ser163=) n.406T>A n.423T>A | |
1 | g.17027801G>A | CA089633 | SDHB | c.317C>T (p.Ser106Phe) c.446C>T (p.Ser149Phe) c.488C>T (p.Ser163Phe) n.405C>T n.422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.17027801G>C | CA338272752 | SDHB | c.317C>G (p.Ser106Cys) c.446C>G (p.Ser149Cys) c.488C>G (p.Ser163Cys) n.405C>G n.422C>G | dbSNP |
1 | g.17027801G= | CA1156080175 | SDHB | c.317C= (p.Ser106=) c.446C= (p.Ser149=) c.488C= (p.Ser163=) n.405C= n.422C= | |
1 | g.17027801G>T | CA338272755 | SDHB | c.317C>A (p.Ser106Tyr) c.446C>A (p.Ser149Tyr) c.488C>A (p.Ser163Tyr) n.405C>A n.422C>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.17027802A= | CA1140495524 | SDHB | c.316T= (p.Ser106=) c.445T= (p.Ser149=) c.487T= (p.Ser163=) n.404T= n.421T= | |
1 | g.17027802A>C | CA338272759 | SDHB | c.316T>G (p.Ser106Ala) c.445T>G (p.Ser149Ala) c.487T>G (p.Ser163Ala) n.404T>G n.421T>G | |
1 | g.17027802A>G | CA015910 | SDHB | c.316T>C (p.Ser106Pro) c.445T>C (p.Ser149Pro) c.487T>C (p.Ser163Pro) n.404T>C n.421T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027802A>T | CA338272762 | SDHB | c.316T>A (p.Ser106Thr) c.445T>A (p.Ser149Thr) c.487T>A (p.Ser163Thr) n.404T>A n.421T>A | |
1 | g.17027803T>A | CA338272766 | SDHB | c.315A>T (p.Glu105Asp) c.444A>T (p.Glu148Asp) c.486A>T (p.Glu162Asp) n.403A>T n.420A>T | |
1 | g.17027803T>C | CA416085998 | SDHB | c.315A>G (p.Glu105=) c.444A>G (p.Glu148=) c.486A>G (p.Glu162=) n.403A>G n.420A>G | ClinVar dbSNP |
1 | g.17027803T>G | CA338272767 | SDHB | c.315A>C (p.Glu105Asp) c.444A>C (p.Glu148Asp) c.486A>C (p.Glu162Asp) n.403A>C n.420A>C | |
1 | g.17027803T= | CA1156080176 | SDHB | c.315A= (p.Glu105=) c.444A= (p.Glu148=) c.486A= (p.Glu162=) n.403A= n.420A= | |
1 | g.17027804T>A | CA338272770 | SDHB | c.314A>T (p.Glu105Val) c.443A>T (p.Glu148Val) c.485A>T (p.Glu162Val) n.402A>T n.419A>T | ClinVar |
1 | g.17027804T>C | CA338272772 | SDHB | c.314A>G (p.Glu105Gly) c.443A>G (p.Glu148Gly) c.485A>G (p.Glu162Gly) n.402A>G n.419A>G | ClinVar |
1 | g.17027804T>G | CA338272773 | SDHB | c.314A>C (p.Glu105Ala) c.443A>C (p.Glu148Ala) c.485A>C (p.Glu162Ala) n.402A>C n.419A>C | |
1 | g.17027805C>A | CA338272779 | SDHB | c.313G>T (p.Glu105Ter) c.442G>T (p.Glu148Ter) c.484G>T (p.Glu162Ter) n.401G>T n.418G>T | ClinVar dbSNP |
1 | g.17027805C>G | CA338272777 | SDHB | c.313G>C (p.Glu105Gln) c.442G>C (p.Glu148Gln) c.484G>C (p.Glu162Gln) n.401G>C n.418G>C | |
1 | g.17027805C>T | CA338272775 | SDHB | c.313G>A (p.Glu105Lys) c.442G>A (p.Glu148Lys) c.484G>A (p.Glu162Lys) n.401G>A n.418G>A | |
1 | g.17027806A>C | CA338272781 | SDHB | c.312T>G (p.Asp104Glu) c.441T>G (p.Asp147Glu) c.483T>G (p.Asp161Glu) n.400T>G n.417T>G | |
1 | g.17027806A>G | CA416086012 | SDHB | c.312T>C (p.Asp104=) c.441T>C (p.Asp147=) c.483T>C (p.Asp161=) n.400T>C n.417T>C | |
1 | g.17027806A>T | CA338272787 | SDHB | c.312T>A (p.Asp104Glu) c.441T>A (p.Asp147Glu) c.483T>A (p.Asp161Glu) n.400T>A n.417T>A | gnomAD v4 |
1 | g.17027807T>A | CA338272790 | SDHB | c.311A>T (p.Asp104Val) c.440A>T (p.Asp147Val) c.482A>T (p.Asp161Val) n.399A>T n.416A>T | ClinVar dbSNP |
1 | g.17027807T>C | CA18665939 | SDHB | c.311A>G (p.Asp104Gly) c.440A>G (p.Asp147Gly) c.482A>G (p.Asp161Gly) n.399A>G n.416A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17027807T>G | CA338272795 | SDHB | c.311A>C (p.Asp104Ala) c.440A>C (p.Asp147Ala) c.482A>C (p.Asp161Ala) n.399A>C n.416A>C | |
1 | g.17027807T= | CA1156080178 | SDHB | c.311A= (p.Asp104=) c.440A= (p.Asp147=) c.482A= (p.Asp161=) n.399A= n.416A= | |
1 | g.17027807_17027808delinsTC | CA1156080177 | SDHB | c.310_311delinsGA (p.Asp104=) c.439_440delinsGA (p.Asp147=) c.481_482delinsGA (p.Asp161=) n.398_399delinsGA n.415_416delinsGA | |
1 | g.17027809_17027812del | CA2499214300 | SDHB | c.308_311del (p.Lys103MetfsTer14) c.437_440del (p.Lys146MetfsTer14) c.479_482del (p.Lys160MetfsTer14) n.396_399del n.413_416del | ClinVar dbSNP |
1 | g.17027809_17027829del | CA658655540 | SDHB | c.291_311del (p.Glu97_Lys103del) c.420_440del (p.Glu140_Lys146del) c.462_482del (p.Glu154_Lys160del) n.379_399del n.396_416del | |
1 | g.17027808C>A | CA338272803 | SDHB | c.310G>T (p.Asp104Tyr) c.439G>T (p.Asp147Tyr) c.481G>T (p.Asp161Tyr) n.398G>T n.415G>T | dbSNP |
1 | g.17027808C= | CA1156080180 | SDHB | c.310G= (p.Asp104=) c.439G= (p.Asp147=) c.481G= (p.Asp161=) n.398G= n.415G= | |
1 | g.17027808C>G | CA338272806 | SDHB | c.310G>C (p.Asp104His) c.439G>C (p.Asp147His) c.481G>C (p.Asp161His) n.398G>C n.415G>C | |
1 | g.17027808C>T | CA338272813 | SDHB | c.310G>A (p.Asp104Asn) c.439G>A (p.Asp147Asn) c.481G>A (p.Asp161Asn) n.398G>A n.415G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027809del | CA015897 | SDHB | c.310del (p.Asp104MetfsTer14) c.439del (p.Asp147MetfsTer14) c.481del (p.Asp161MetfsTer14) n.398del n.415del | ClinVar dbSNP |
1 | g.17027808_17027811delinsCCTT | CA1156080179 | SDHB | c.307_310delinsAAGG (p.Lys103=) c.436_439delinsAAGG (p.Lys146=) c.478_481delinsAAGG (p.Lys160=) n.395_398delinsAAGG n.412_415delinsAAGG | |
1 | g.17027809C>A | CA338272822 | SDHB | c.309G>T (p.Lys103Asn) c.438G>T (p.Lys146Asn) c.480G>T (p.Lys160Asn) n.397G>T n.414G>T | |
1 | g.17027809C= | CA1156080181 | SDHB | c.309G= (p.Lys103=) c.438G= (p.Lys146=) c.480G= (p.Lys160=) n.397G= n.414G= | |
1 | g.17027809C>G | CA338272824 | SDHB | c.309G>C (p.Lys103Asn) c.438G>C (p.Lys146Asn) c.480G>C (p.Lys160Asn) n.397G>C n.414G>C | gnomAD v4 |
1 | g.17027809C>T | CA416086043 | SDHB | c.309G>A (p.Lys103=) c.438G>A (p.Lys146=) c.480G>A (p.Lys160=) n.397G>A n.414G>A | ClinVar dbSNP |
1 | g.17027816_17027818del | CA521039145 | SDHB | c.307_309del (p.Lys103del) c.436_438del (p.Lys146del) c.478_480del (p.Lys160del) n.395_397del n.412_414del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027810T>A | CA338272826 | SDHB | c.308A>T (p.Lys103Met) c.437A>T (p.Lys146Met) c.479A>T (p.Lys160Met) n.396A>T n.413A>T | |
1 | g.17027810T>C | CA338272829 | SDHB | c.308A>G (p.Lys103Arg) c.437A>G (p.Lys146Arg) c.479A>G (p.Lys160Arg) n.396A>G n.413A>G | |
1 | g.17027810T>G | CA338272838 | SDHB | c.308A>C (p.Lys103Thr) c.437A>C (p.Lys146Thr) c.479A>C (p.Lys160Thr) n.396A>C n.413A>C | ClinVar dbSNP |
1 | g.17027810T= | CA1156080182 | SDHB | c.308A= (p.Lys103=) c.437A= (p.Lys146=) c.479A= (p.Lys160=) n.396A= n.413A= | |
1 | g.17027811T>A | CA338272842 | SDHB | c.307A>T (p.Lys103Ter) c.436A>T (p.Lys146Ter) c.478A>T (p.Lys160Ter) n.395A>T n.412A>T | |
1 | g.17027811T>C | CA338272846 | SDHB | c.307A>G (p.Lys103Glu) c.436A>G (p.Lys146Glu) c.478A>G (p.Lys160Glu) n.395A>G n.412A>G | ClinVar |
1 | g.17027811T>G | CA338272853 | SDHB | c.307A>C (p.Lys103Gln) c.436A>C (p.Lys146Gln) c.478A>C (p.Lys160Gln) n.395A>C n.412A>C | |
1 | g.17027812C>A | CA338272865 | SDHB | c.306G>T (p.Lys102Asn) c.435G>T (p.Lys145Asn) c.477G>T (p.Lys159Asn) n.394G>T n.411G>T | |
1 | g.17027812C>G | CA338272858 | SDHB | c.306G>C (p.Lys102Asn) c.435G>C (p.Lys145Asn) c.477G>C (p.Lys159Asn) n.394G>C n.411G>C | ClinVar |
1 | g.17027812C>T | CA416086063 | SDHB | c.306G>A (p.Lys102=) c.435G>A (p.Lys145=) c.477G>A (p.Lys159=) n.394G>A n.411G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027813T>A | CA338272867 | SDHB | c.305A>T (p.Lys102Met) c.434A>T (p.Lys145Met) c.476A>T (p.Lys159Met) n.393A>T n.410A>T | |
1 | g.17027813T>C | CA338272869 | SDHB | c.305A>G (p.Lys102Arg) c.434A>G (p.Lys145Arg) c.476A>G (p.Lys159Arg) n.393A>G n.410A>G | ClinVar gnomAD v4 |
1 | g.17027813T>G | CA338272871 | SDHB | c.305A>C (p.Lys102Thr) c.434A>C (p.Lys145Thr) c.476A>C (p.Lys159Thr) n.393A>C n.410A>C | |
1 | g.17027814T>A | CA338272873 | SDHB | c.304A>T (p.Lys102Ter) c.433A>T (p.Lys145Ter) c.475A>T (p.Lys159Ter) n.392A>T n.409A>T | |
1 | g.17027814T>C | CA338272876 | SDHB | c.304A>G (p.Lys102Glu) c.433A>G (p.Lys145Glu) c.475A>G (p.Lys159Glu) n.392A>G n.409A>G | |
1 | g.17027814T>G | CA338272897 | SDHB | c.304A>C (p.Lys102Gln) c.433A>C (p.Lys145Gln) c.475A>C (p.Lys159Gln) n.392A>C n.409A>C | |
1 | g.17027815C>A | CA338272900 | SDHB | c.303G>T (p.Lys101Asn) c.432G>T (p.Lys144Asn) c.474G>T (p.Lys158Asn) n.391G>T n.408G>T | |
1 | g.17027815C>G | CA338272908 | SDHB | c.303G>C (p.Lys101Asn) c.432G>C (p.Lys144Asn) c.474G>C (p.Lys158Asn) n.391G>C n.408G>C | |
1 | g.17027815C>T | CA416086088 | SDHB | c.303G>A (p.Lys101=) c.432G>A (p.Lys144=) c.474G>A (p.Lys158=) n.391G>A n.408G>A | gnomAD v4 |
1 | g.17027816T>A | CA338272912 | SDHB | c.302A>T (p.Lys101Met) c.431A>T (p.Lys144Met) c.473A>T (p.Lys158Met) n.390A>T n.407A>T | |
1 | g.17027816T>C | CA338272913 | SDHB | c.302A>G (p.Lys101Arg) c.431A>G (p.Lys144Arg) c.473A>G (p.Lys158Arg) n.390A>G n.407A>G | |
1 | g.17027816T>G | CA338272914 | SDHB | c.302A>C (p.Lys101Thr) c.431A>C (p.Lys144Thr) c.473A>C (p.Lys158Thr) n.390A>C n.407A>C | |
1 | g.17027817del | CA2580060651 | SDHB | c.302del (p.Lys101ArgfsTer17) c.431del (p.Lys144ArgfsTer17) c.473del (p.Lys158ArgfsTer17) n.390del n.407del | ClinVar |
1 | g.17027817T>A | CA338272917 | SDHB | c.301A>T (p.Lys101Ter) c.430A>T (p.Lys144Ter) c.472A>T (p.Lys158Ter) n.389A>T n.406A>T | |
1 | g.17027817T>C | CA338272916 | SDHB | c.301A>G (p.Lys101Glu) c.430A>G (p.Lys144Glu) c.472A>G (p.Lys158Glu) n.389A>G n.406A>G | ClinVar |
1 | g.17027817T>G | CA338272915 | SDHB | c.301A>C (p.Lys101Gln) c.430A>C (p.Lys144Gln) c.472A>C (p.Lys158Gln) n.389A>C n.406A>C | |
1 | g.17027818C>A | CA338272918 | SDHB | c.300G>T (p.Leu100Phe) c.429G>T (p.Leu143Phe) c.471G>T (p.Leu157Phe) n.388G>T n.405G>T | |
1 | g.17027818C>G | CA338272920 | SDHB | c.300G>C (p.Leu100Phe) c.429G>C (p.Leu143Phe) c.471G>C (p.Leu157Phe) n.388G>C n.405G>C | |
1 | g.17027818C>T | CA416086106 | SDHB | c.300G>A (p.Leu100=) c.429G>A (p.Leu143=) c.471G>A (p.Leu157=) n.388G>A n.405G>A | |
1 | g.17027818_17027819delinsCA | CA1156080183 | SDHB | c.299_300delinsTG (p.Leu100=) c.428_429delinsTG (p.Leu143=) c.470_471delinsTG (p.Leu157=) n.387_388delinsTG n.404_405delinsTG | |
1 | g.17027819A= | CA1156080184 | SDHB | c.299T= (p.Leu100=) c.428T= (p.Leu143=) c.470T= (p.Leu157=) n.387T= n.404T= | |
1 | g.17027819A>C | CA338272923 | SDHB | c.299T>G (p.Leu100Trp) c.428T>G (p.Leu143Trp) c.470T>G (p.Leu157Trp) n.387T>G n.404T>G | |
1 | g.17027819A>G | CA338272931 | SDHB | c.299T>C (p.Leu100Ser) c.428T>C (p.Leu143Ser) c.470T>C (p.Leu157Ser) n.387T>C n.404T>C | ClinVar dbSNP |
1 | g.17027819A>T | CA338272932 | SDHB | c.299T>A (p.Leu100Ter) c.428T>A (p.Leu143Ter) c.470T>A (p.Leu157Ter) n.387T>A n.404T>A | |
1 | g.17027821del | CA1139655469 | SDHB | c.299del (p.Leu100Ter) c.428del (p.Leu143Ter) c.470del (p.Leu157Ter) n.387del n.404del | ClinVar dbSNP gnomAD v4 |
1 | g.17027820A>C | CA338272935 | SDHB | c.298T>G (p.Leu100Val) c.427T>G (p.Leu143Val) c.469T>G (p.Leu157Val) n.386T>G n.403T>G | |
1 | g.17027820A>G | CA416086126 | SDHB | c.298T>C (p.Leu100=) c.427T>C (p.Leu143=) c.469T>C (p.Leu157=) n.386T>C n.403T>C | ClinVar gnomAD v4 |
1 | g.17027820A>T | CA338272936 | SDHB | c.298T>A (p.Leu100Met) c.427T>A (p.Leu143Met) c.469T>A (p.Leu157Met) n.386T>A n.403T>A | |
1 | g.17027821A= | CA1143370233 | SDHB | c.297T= (p.Tyr99=) c.426T= (p.Tyr142=) c.468T= (p.Tyr156=) n.385T= n.402T= | |
1 | g.17027821A>C | CA338272937 | SDHB | c.297T>G (p.Tyr99Ter) c.426T>G (p.Tyr142Ter) c.468T>G (p.Tyr156Ter) n.385T>G n.402T>G | |
1 | g.17027821A>G | CA18665949 | SDHB | c.297T>C (p.Tyr99=) c.426T>C (p.Tyr142=) c.468T>C (p.Tyr156=) n.385T>C n.402T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17027821A>T | CA338272940 | SDHB | c.297T>A (p.Tyr99Ter) c.426T>A (p.Tyr142Ter) c.468T>A (p.Tyr156Ter) n.385T>A n.402T>A | |
1 | g.17027822T>A | CA338272942 | SDHB | c.296A>T (p.Tyr99Phe) c.425A>T (p.Tyr142Phe) c.467A>T (p.Tyr156Phe) n.384A>T n.401A>T | |
1 | g.17027822T>C | CA338272951 | SDHB | c.296A>G (p.Tyr99Cys) c.425A>G (p.Tyr142Cys) c.467A>G (p.Tyr156Cys) n.384A>G n.401A>G | |
1 | g.17027822T>G | CA338272959 | SDHB | c.296A>C (p.Tyr99Ser) c.425A>C (p.Tyr142Ser) c.467A>C (p.Tyr156Ser) n.384A>C n.401A>C | |
1 | g.17027823A= | CA1156080185 | SDHB | c.295T= (p.Tyr99=) c.424T= (p.Tyr142=) c.466T= (p.Tyr156=) n.383T= n.400T= | |
1 | g.17027823A>C | CA338272980 | SDHB | c.295T>G (p.Tyr99Asp) c.424T>G (p.Tyr142Asp) c.466T>G (p.Tyr156Asp) n.383T>G n.400T>G | |
1 | g.17027823A>G | CA338272960 | SDHB | c.295T>C (p.Tyr99His) c.424T>C (p.Tyr142His) c.466T>C (p.Tyr156His) n.383T>C n.400T>C | dbSNP gnomAD v4 |
1 | g.17027823A>T | CA338272965 | SDHB | c.295T>A (p.Tyr99Asn) c.424T>A (p.Tyr142Asn) c.466T>A (p.Tyr156Asn) n.383T>A n.400T>A | |
1 | g.17027824del | CA2499214301 | SDHB | c.295del (p.Tyr99IlefsTer2) c.424del (p.Tyr142IlefsTer2) c.466del (p.Tyr156IlefsTer2) n.383del n.400del | ClinVar dbSNP |