| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.18526344T>C | CA2652042453 | SEC23B | c.835-29T>C (n.835-29T>C) c.781-29T>C (n.781-29T>C) | gnomAD v4 |
| 20 | g.18526345T= | CA2353557103 | SEC23B | c.835-28T= (n.835-28T=) c.781-28T= (n.781-28T=) | |
| 20 | g.18526346C>G | CA2652042454 | SEC23B | c.835-27C>G (n.835-27C>G) c.781-27C>G (n.781-27C>G) | gnomAD v4 |
| 20 | g.18526348_18526355dup | CA635265086 | SEC23B | c.835-25_835-18dup (n.835-25_835-18dup) c.781-25_781-18dup (n.781-25_781-18dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526347T>C | CA312396242 | SEC23B | c.835-26T>C (n.835-26T>C) c.781-26T>C (n.781-26T>C) | dbSNP |
| 20 | g.18526347T= | CA2353557104 | SEC23B | c.835-26T= (n.835-26T=) c.781-26T= (n.781-26T=) | |
| 20 | g.18526350C= | CA2353557105 | SEC23B | c.835-23C= (n.835-23C=) c.781-23C= (n.781-23C=) | |
| 20 | g.18526350C>T | CA9778145 | SEC23B | c.835-23C>T (n.835-23C>T) c.781-23C>T (n.781-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526351A= | CA2353557106 | SEC23B | c.835-22A= (n.835-22A=) c.781-22A= (n.781-22A=) | |
| 20 | g.18526351A>G | CA2652042458 | SEC23B | c.835-22A>G (n.835-22A>G) c.781-22A>G (n.781-22A>G) | gnomAD v4 |
| 20 | g.18526351A>T | CA9778146 | SEC23B | c.835-22A>T (n.835-22A>T) c.781-22A>T (n.781-22A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526356G>A | CA741791442 | SEC23B | c.835-17G>A (n.835-17G>A) c.781-17G>A (n.781-17G>A) | dbSNP |
| 20 | g.18526356G= | CA2353557107 | SEC23B | c.835-17G= (n.835-17G=) c.781-17G= (n.781-17G=) | |
| 20 | g.18526357C>A | CA2652042459 | SEC23B | c.835-16C>A (n.835-16C>A) c.781-16C>A (n.781-16C>A) | gnomAD v4 |
| 20 | g.18526359A>G | CA2652042461 | SEC23B | c.835-14A>G (n.835-14A>G) c.781-14A>G (n.781-14A>G) | gnomAD v4 |
| 20 | g.18526362C= | CA2353557108 | SEC23B | c.835-11C= (n.835-11C=) c.781-11C= (n.781-11C=) | |
| 20 | g.18526362C>T | CA9778147 | SEC23B | c.835-11C>T (n.835-11C>T) c.781-11C>T (n.781-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526363G>A | CA509826625 | SEC23B | c.835-10G>A (n.835-10G>A) c.781-10G>A (n.781-10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526363G>C | CA2577347478 | SEC23B | c.835-10G>C (n.835-10G>C) c.781-10G>C (n.781-10G>C) | |
| 20 | g.18526363G= | CA2353557109 | SEC23B | c.835-10G= (n.835-10G=) c.781-10G= (n.781-10G=) | |
| 20 | g.18526365T>C | CA9778148 | SEC23B | c.835-8T>C (n.835-8T>C) c.781-8T>C (n.781-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526365T= | CA2353557110 | SEC23B | c.835-8T= (n.835-8T=) c.781-8T= (n.781-8T=) | |
| 20 | g.18526366A= | CA2353557111 | SEC23B | c.835-7A= (n.835-7A=) c.781-7A= (n.781-7A=) | |
| 20 | g.18526366A>C | CA2652042468 | SEC23B | c.835-7A>C (n.835-7A>C) c.781-7A>C (n.781-7A>C) | gnomAD v4 |
| 20 | g.18526366A>G | CA9778149 | SEC23B | c.835-7A>G (n.835-7A>G) c.781-7A>G (n.781-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526368T>C | CA2652042471 | SEC23B | c.835-5T>C (n.835-5T>C) c.781-5T>C (n.781-5T>C) | gnomAD v4 |
| 20 | g.18526369T>A | CA2652042473 | SEC23B | c.835-4T>A (n.835-4T>A) c.781-4T>A (n.781-4T>A) | gnomAD v4 |
| 20 | g.18526369T>G | CA9778150 | SEC23B | c.835-4T>G (n.835-4T>G) c.781-4T>G (n.781-4T>G) | dbSNP ExAC |
| 20 | g.18526369T= | CA2353557112 | SEC23B | c.835-4T= (n.835-4T=) c.781-4T= (n.781-4T=) | |
| 20 | g.18526370T>C | CA2652042476 | SEC23B | c.835-3T>C (n.835-3T>C) c.781-3T>C (n.781-3T>C) | gnomAD v4 |
| 20 | g.18526370T>G | CA9778151 | SEC23B | c.835-3T>G (n.835-3T>G) c.781-3T>G (n.781-3T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526370T= | CA2353557113 | SEC23B | c.835-3T= (n.835-3T=) c.781-3T= (n.781-3T=) | |
| 20 | g.18526371A= | CA2353557114 | SEC23B | c.835-2A= (n.835-2A=) c.781-2A= (n.781-2A=) | |
| 20 | g.18526371A>C | CA408360017 | SEC23B | c.835-2A>C (n.835-2A>C) c.781-2A>C (n.781-2A>C) | |
| 20 | g.18526371A>G | CA9778152 | SEC23B | c.835-2A>G (n.835-2A>G) c.781-2A>G (n.781-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526371A>T | CA408360018 | SEC23B | c.835-2A>T (n.835-2A>T) c.781-2A>T (n.781-2A>T) | |
| 20 | g.18526372G>A | CA408360019 | SEC23B | c.835-1G>A (n.835-1G>A) c.781-1G>A (n.781-1G>A) | |
| 20 | g.18526372G>C | CA408360021 | SEC23B | c.835-1G>C (n.835-1G>C) c.781-1G>C (n.781-1G>C) | |
| 20 | g.18526372G>T | CA408360020 | SEC23B | c.835-1G>T (n.835-1G>T) c.781-1G>T (n.781-1G>T) | |
| 20 | g.18526373G>A | CA408360022 | SEC23B | c.835G>A (p.Gly279Ser) c.781G>A (p.Gly261Ser) | |
| 20 | g.18526373G>C | CA408360023 | SEC23B | c.835G>C (p.Gly279Arg) c.781G>C (p.Gly261Arg) | |
| 20 | g.18526373G>T | CA408360024 | SEC23B | c.835G>T (p.Gly279Cys) c.781G>T (p.Gly261Cys) | |
| 20 | g.18526374G>A | CA408360025 | SEC23B | c.836G>A (p.Gly279Asp) c.782G>A (p.Gly261Asp) | |
| 20 | g.18526374G>C | CA408360026 | SEC23B | c.836G>C (p.Gly279Ala) c.782G>C (p.Gly261Ala) | |
| 20 | g.18526374G= | CA2353557115 | SEC23B | c.836G= (p.Gly279=) c.782G= (p.Gly261=) | |
| 20 | g.18526374G>T | CA408360027 | SEC23B | c.836G>T (p.Gly279Val) c.782G>T (p.Gly261Val) | dbSNP gnomAD v4 |
| 20 | g.18526375C>A | CA509826635 | SEC23B | c.837C>A (p.Gly279=) c.783C>A (p.Gly261=) | gnomAD v4 |
| 20 | g.18526375C>G | CA509826636 | SEC23B | c.837C>G (p.Gly279=) c.783C>G (p.Gly261=) | |
| 20 | g.18526375C>T | CA509826637 | SEC23B | c.837C>T (p.Gly279=) c.783C>T (p.Gly261=) | |
| 20 | g.18526376A>C | CA408360030 | SEC23B | c.838A>C (p.Thr280Pro) c.784A>C (p.Thr262Pro) | |
| 20 | g.18526376A>G | CA408360029 | SEC23B | c.838A>G (p.Thr280Ala) c.784A>G (p.Thr262Ala) | |
| 20 | g.18526376A>T | CA408360028 | SEC23B | c.838A>T (p.Thr280Ser) c.784A>T (p.Thr262Ser) | |
| 20 | g.18526377C>A | CA408360031 | SEC23B | c.839C>A (p.Thr280Asn) c.785C>A (p.Thr262Asn) | |
| 20 | g.18526377C= | CA2353557116 | SEC23B | c.839C= (p.Thr280=) c.785C= (p.Thr262=) | |
| 20 | g.18526377C>G | CA9778153 | SEC23B | c.839C>G (p.Thr280Ser) c.785C>G (p.Thr262Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526377C>T | CA408360032 | SEC23B | c.839C>T (p.Thr280Ile) c.785C>T (p.Thr262Ile) | |
| 20 | g.18526378T>A | CA509826640 | SEC23B | c.840T>A (p.Thr280=) c.786T>A (p.Thr262=) | |
| 20 | g.18526378T>C | CA509826641 | SEC23B | c.840T>C (p.Thr280=) c.786T>C (p.Thr262=) | |
| 20 | g.18526378T>G | CA509826642 | SEC23B | c.840T>G (p.Thr280=) c.786T>G (p.Thr262=) | |
| 20 | g.18526379T>A | CA408360033 | SEC23B | c.841T>A (p.Phe281Ile) c.787T>A (p.Phe263Ile) | |
| 20 | g.18526379T>C | CA408360034 | SEC23B | c.841T>C (p.Phe281Leu) c.787T>C (p.Phe263Leu) | gnomAD v4 |
| 20 | g.18526379T>G | CA408360035 | SEC23B | c.841T>G (p.Phe281Val) c.787T>G (p.Phe263Val) | |
| 20 | g.18526380T>A | CA408360036 | SEC23B | c.842T>A (p.Phe281Tyr) c.788T>A (p.Phe263Tyr) | |
| 20 | g.18526380T>C | CA408360038 | SEC23B | c.842T>C (p.Phe281Ser) c.788T>C (p.Phe263Ser) | gnomAD v4 |
| 20 | g.18526380T>G | CA408360037 | SEC23B | c.842T>G (p.Phe281Cys) c.788T>G (p.Phe263Cys) | |
| 20 | g.18526381T>A | CA408360039 | SEC23B | c.843T>A (p.Phe281Leu) c.789T>A (p.Phe263Leu) | |
| 20 | g.18526381T>C | CA9778154 | SEC23B | c.843T>C (p.Phe281=) c.789T>C (p.Phe263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526381T>G | CA408360040 | SEC23B | c.843T>G (p.Phe281Leu) c.789T>G (p.Phe263Leu) | |
| 20 | g.18526381T= | CA2353557117 | SEC23B | c.843T= (p.Phe281=) c.789T= (p.Phe263=) | |
| 20 | g.18526381_18526382insTGG | CA2529017012 | SEC23B | c.843_844insTGG (p.Phe281_Pro282insTrp) c.789_790insTGG (p.Phe263_Pro264insTrp) | |
| 20 | g.18526382C>A | CA408360041 | SEC23B | c.844C>A (p.Pro282Thr) c.790C>A (p.Pro264Thr) | dbSNP |
| 20 | g.18526382C= | CA2353557118 | SEC23B | c.844C= (p.Pro282=) c.790C= (p.Pro264=) | |
| 20 | g.18526382C>G | CA408360042 | SEC23B | c.844C>G (p.Pro282Ala) c.790C>G (p.Pro264Ala) | |
| 20 | g.18526382C>T | CA312396249 | SEC23B | c.844C>T (p.Pro282Ser) c.790C>T (p.Pro264Ser) | dbSNP |
| 20 | g.18526382_18526383insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG | CA2503162930 | SEC23B | c.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG (p.Pro282GlnfsTer38) c.790_791insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG (p.Pro264GlnfsTer38) | |
| 20 | g.18526383C>A | CA408360043 | SEC23B | c.845C>A (p.Pro282Gln) c.791C>A (p.Pro264Gln) | |
| 20 | g.18526383C>G | CA408360044 | SEC23B | c.845C>G (p.Pro282Arg) c.791C>G (p.Pro264Arg) | |
| 20 | g.18526383C>T | CA408360045 | SEC23B | c.845C>T (p.Pro282Leu) c.791C>T (p.Pro264Leu) | |
| 20 | g.18526384A>C | CA509826647 | SEC23B | c.846A>C (p.Pro282=) c.792A>C (p.Pro264=) | gnomAD v4 |
| 20 | g.18526384A>G | CA509826649 | SEC23B | c.846A>G (p.Pro282=) c.792A>G (p.Pro264=) | gnomAD v4 |
| 20 | g.18526384A>T | CA509826648 | SEC23B | c.846A>T (p.Pro282=) c.792A>T (p.Pro264=) | |
| 20 | g.18526385A>C | CA408360046 | SEC23B | c.847A>C (p.Asn283His) c.793A>C (p.Asn265His) | |
| 20 | g.18526385A>G | CA408360047 | SEC23B | c.847A>G (p.Asn283Asp) c.793A>G (p.Asn265Asp) | |
| 20 | g.18526385A>T | CA408360048 | SEC23B | c.847A>T (p.Asn283Tyr) c.793A>T (p.Asn265Tyr) | |
| 20 | g.18526386A>C | CA408360049 | SEC23B | c.848A>C (p.Asn283Thr) c.794A>C (p.Asn265Thr) | |
| 20 | g.18526386A>G | CA408360051 | SEC23B | c.848A>G (p.Asn283Ser) c.794A>G (p.Asn265Ser) | gnomAD v4 |
| 20 | g.18526386A>T | CA408360050 | SEC23B | c.848A>T (p.Asn283Ile) c.794A>T (p.Asn265Ile) | |
| 20 | g.18526387C>A | CA408360052 | SEC23B | c.849C>A (p.Asn283Lys) c.795C>A (p.Asn265Lys) | |
| 20 | g.18526387C= | CA2353557119 | SEC23B | c.849C= (p.Asn283=) c.795C= (p.Asn265=) | |
| 20 | g.18526387C>G | CA9778156 | SEC23B | c.849C>G (p.Asn283Lys) c.795C>G (p.Asn265Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526387C>T | CA9778155 | SEC23B | c.849C>T (p.Asn283=) c.795C>T (p.Asn265=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526388A= | CA2353557120 | SEC23B | c.850A= (p.Thr284=) c.796A= (p.Thr266=) | |
| 20 | g.18526388A>C | CA408360053 | SEC23B | c.850A>C (p.Thr284Pro) c.796A>C (p.Thr266Pro) | |
| 20 | g.18526388A>G | CA9778157 | SEC23B | c.850A>G (p.Thr284Ala) c.796A>G (p.Thr266Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526388A>T | CA408360054 | SEC23B | c.850A>T (p.Thr284Ser) c.796A>T (p.Thr266Ser) | |
| 20 | g.18526389C>A | CA408360055 | SEC23B | c.851C>A (p.Thr284Lys) c.797C>A (p.Thr266Lys) | dbSNP |
| 20 | g.18526389C= | CA2353557121 | SEC23B | c.851C= (p.Thr284=) c.797C= (p.Thr266=) | |
| 20 | g.18526389C>G | CA408360056 | SEC23B | c.851C>G (p.Thr284Arg) c.797C>G (p.Thr266Arg) | |
| 20 | g.18526389C>T | CA9778158 | SEC23B | c.851C>T (p.Thr284Ile) c.797C>T (p.Thr266Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526390A= | CA2353557122 | SEC23B | c.852A= (p.Thr284=) c.798A= (p.Thr266=) | |
| 20 | g.18526390A>C | CA509826654 | SEC23B | c.852A>C (p.Thr284=) c.798A>C (p.Thr266=) | |
| 20 | g.18526390A>G | CA312396261 | SEC23B | c.852A>G (p.Thr284=) c.798A>G (p.Thr266=) | dbSNP gnomAD v4 |
| 20 | g.18526390A>T | CA509826656 | SEC23B | c.852A>T (p.Thr284=) c.798A>T (p.Thr266=) | |
| 20 | g.18526391G>A | CA9778159 | SEC23B | c.853G>A (p.Gly285Arg) c.799G>A (p.Gly267Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526391G>C | CA408360057 | SEC23B | c.853G>C (p.Gly285Arg) c.799G>C (p.Gly267Arg) | |
| 20 | g.18526391G= | CA2353557123 | SEC23B | c.853G= (p.Gly285=) c.799G= (p.Gly267=) | |
| 20 | g.18526391G>T | CA408360058 | SEC23B | c.853G>T (p.Gly285Ter) c.799G>T (p.Gly267Ter) | gnomAD v4 |
| 20 | g.18526392G>A | CA408360059 | SEC23B | c.854G>A (p.Gly285Glu) c.800G>A (p.Gly267Glu) | |
| 20 | g.18526392G>C | CA408360061 | SEC23B | c.854G>C (p.Gly285Ala) c.800G>C (p.Gly267Ala) | |
| 20 | g.18526392G>T | CA408360060 | SEC23B | c.854G>T (p.Gly285Val) c.800G>T (p.Gly267Val) | |
| 20 | g.18526393A>C | CA509826657 | SEC23B | c.855A>C (p.Gly285=) c.801A>C (p.Gly267=) | |
| 20 | g.18526393A>G | CA509826658 | SEC23B | c.855A>G (p.Gly285=) c.801A>G (p.Gly267=) | |
| 20 | g.18526393A>T | CA509826659 | SEC23B | c.855A>T (p.Gly285=) c.801A>T (p.Gly267=) | |
| 20 | g.18526394G>A | CA408360062 | SEC23B | c.856G>A (p.Ala286Thr) c.802G>A (p.Ala268Thr) | |
| 20 | g.18526394G>C | CA408360063 | SEC23B | c.856G>C (p.Ala286Pro) c.802G>C (p.Ala268Pro) | |
| 20 | g.18526394G>T | CA408360064 | SEC23B | c.856G>T (p.Ala286Ser) c.802G>T (p.Ala268Ser) | |
| 20 | g.18526394_18526395insATG | CA2652042506 | SEC23B | c.856_857insATG (p.Gly285_Ala286insAsp) c.802_803insATG (p.Gly267_Ala268insAsp) | gnomAD v4 |
| 20 | g.18526395C>A | CA408360065 | SEC23B | c.857C>A (p.Ala286Asp) c.803C>A (p.Ala268Asp) | |
| 20 | g.18526395C>G | CA408360066 | SEC23B | c.857C>G (p.Ala286Gly) c.803C>G (p.Ala268Gly) | gnomAD v4 |
| 20 | g.18526395C>T | CA408360067 | SEC23B | c.857C>T (p.Ala286Val) c.803C>T (p.Ala268Val) | |
| 20 | g.18526395_18526396insTTGCTAATCGAA | CA2652042508 | SEC23B | c.857_858insTTGCTAATCGAA (p.Ala287CysfsTer2) c.803_804insTTGCTAATCGAA (p.Ala269CysfsTer2) | gnomAD v4 |
| 20 | g.18526396C>A | CA509826663 | SEC23B | c.858C>A (p.Ala286=) c.804C>A (p.Ala268=) | |
| 20 | g.18526396C>G | CA509826665 | SEC23B | c.858C>G (p.Ala286=) c.804C>G (p.Ala268=) | |
| 20 | g.18526396C>T | CA509826664 | SEC23B | c.858C>T (p.Ala286=) c.804C>T (p.Ala268=) | gnomAD v4 |
| 20 | g.18526397A>C | CA509826666 | SEC23B | c.859A>C (p.Arg287=) c.805A>C (p.Arg269=) | |
| 20 | g.18526397A>G | CA408360068 | SEC23B | c.859A>G (p.Arg287Gly) c.805A>G (p.Arg269Gly) | gnomAD v4 |
| 20 | g.18526397A>T | CA408360069 | SEC23B | c.859A>T (p.Arg287Trp) c.805A>T (p.Arg269Trp) | |
| 20 | g.18526398G>A | CA408360070 | SEC23B | c.860G>A (p.Arg287Lys) c.806G>A (p.Arg269Lys) | |
| 20 | g.18526398G>C | CA408360071 | SEC23B | c.860G>C (p.Arg287Thr) c.806G>C (p.Arg269Thr) | |
| 20 | g.18526398G>T | CA408360072 | SEC23B | c.860G>T (p.Arg287Met) c.806G>T (p.Arg269Met) | |
| 20 | g.18526398_18526399insCTGCAAAT | CA2652042512 | SEC23B | c.860_861insCTGCAAAT (p.Arg287SerfsTer4) c.806_807insCTGCAAAT (p.Arg269SerfsTer4) | gnomAD v4 |
| 20 | g.18526399G>A | CA509826667 | SEC23B | c.861G>A (p.Arg287=) c.807G>A (p.Arg269=) | |
| 20 | g.18526399G>C | CA408360073 | SEC23B | c.861G>C (p.Arg287Ser) c.807G>C (p.Arg269Ser) | |
| 20 | g.18526399G>T | CA408360074 | SEC23B | c.861G>T (p.Arg287Ser) c.807G>T (p.Arg269Ser) | |
| 20 | g.18526400A>C | CA408360075 | SEC23B | c.862A>C (p.Ile288Leu) c.808A>C (p.Ile270Leu) | |
| 20 | g.18526400A>G | CA408360076 | SEC23B | c.862A>G (p.Ile288Val) c.808A>G (p.Ile270Val) | gnomAD v4 |
| 20 | g.18526400A>T | CA408360077 | SEC23B | c.862A>T (p.Ile288Phe) c.808A>T (p.Ile270Phe) | |
| 20 | g.18526401T>A | CA408360078 | SEC23B | c.863T>A (p.Ile288Asn) c.809T>A (p.Ile270Asn) | |
| 20 | g.18526401T>C | CA408360079 | SEC23B | c.863T>C (p.Ile288Thr) c.809T>C (p.Ile270Thr) | |
| 20 | g.18526401T>G | CA408360080 | SEC23B | c.863T>G (p.Ile288Ser) c.809T>G (p.Ile270Ser) | |
| 20 | g.18526402C>A | CA509826668 | SEC23B | c.864C>A (p.Ile288=) c.810C>A (p.Ile270=) | |
| 20 | g.18526402C>G | CA408360081 | SEC23B | c.864C>G (p.Ile288Met) c.810C>G (p.Ile270Met) | |
| 20 | g.18526402C>T | CA509826669 | SEC23B | c.864C>T (p.Ile288=) c.810C>T (p.Ile270=) | |
| 20 | g.18526403A= | CA2353557124 | SEC23B | c.865A= (p.Met289=) c.811A= (p.Met271=) | |
| 20 | g.18526403A>C | CA408360082 | SEC23B | c.865A>C (p.Met289Leu) c.811A>C (p.Met271Leu) | dbSNP |
| 20 | g.18526403A>G | CA408360083 | SEC23B | c.865A>G (p.Met289Val) c.811A>G (p.Met271Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526403A>T | CA408360084 | SEC23B | c.865A>T (p.Met289Leu) c.811A>T (p.Met271Leu) | gnomAD v4 |
| 20 | g.18526403_18526404insC | CA2652042516 | SEC23B | c.865_866insC (p.Met289ThrfsTer19) c.811_812insC (p.Met271ThrfsTer19) | gnomAD v4 |
| 20 | g.18526404T>A | CA408360085 | SEC23B | c.866T>A (p.Met289Lys) c.812T>A (p.Met271Lys) | gnomAD v4 |
| 20 | g.18526404T>C | CA408360086 | SEC23B | c.866T>C (p.Met289Thr) c.812T>C (p.Met271Thr) | |
| 20 | g.18526404T>G | CA408360087 | SEC23B | c.866T>G (p.Met289Arg) c.812T>G (p.Met271Arg) | |
| 20 | g.18526405G>A | CA408360090 | SEC23B | c.867G>A (p.Met289Ile) c.813G>A (p.Met271Ile) | |
| 20 | g.18526405G>C | CA408360089 | SEC23B | c.867G>C (p.Met289Ile) c.813G>C (p.Met271Ile) | |
| 20 | g.18526405G>T | CA408360088 | SEC23B | c.867G>T (p.Met289Ile) c.813G>T (p.Met271Ile) | |
| 20 | g.18526406C>A | CA408360091 | SEC23B | c.868C>A (p.Leu290Met) c.814C>A (p.Leu272Met) | |
| 20 | g.18526406C>G | CA408360092 | SEC23B | c.868C>G (p.Leu290Val) c.814C>G (p.Leu272Val) | |
| 20 | g.18526406C>T | CA509826670 | SEC23B | c.868C>T (p.Leu290=) c.814C>T (p.Leu272=) | |
| 20 | g.18526406_18526407insAT | CA2652042517 | SEC23B | c.868_869insAT (p.Leu290HisfsTer20) c.814_815insAT (p.Leu272HisfsTer20) | gnomAD v4 |
| 20 | g.18526407T>A | CA408360093 | SEC23B | c.869T>A (p.Leu290Gln) c.815T>A (p.Leu272Gln) | |
| 20 | g.18526407T>C | CA408360094 | SEC23B | c.869T>C (p.Leu290Pro) c.815T>C (p.Leu272Pro) | |
| 20 | g.18526407T>G | CA408360095 | SEC23B | c.869T>G (p.Leu290Arg) c.815T>G (p.Leu272Arg) | |
| 20 | g.18526408G>A | CA509826671 | SEC23B | c.870G>A (p.Leu290=) c.816G>A (p.Leu272=) | |
| 20 | g.18526408G>C | CA509826672 | SEC23B | c.870G>C (p.Leu290=) c.816G>C (p.Leu272=) | dbSNP |
| 20 | g.18526408G>T | CA509826673 | SEC23B | c.870G>T (p.Leu290=) c.816G>T (p.Leu272=) | |
| 20 | g.18526408_18526409insATA | CA2652042519 | SEC23B | c.870_871insATA (p.Leu290_Phe291insIle) c.816_817insATA (p.Leu272_Phe273insIle) | gnomAD v4 |
| 20 | g.18526409T>A | CA408360096 | SEC23B | c.871T>A (p.Phe291Ile) c.817T>A (p.Phe273Ile) | |
| 20 | g.18526409T>C | CA408360097 | SEC23B | c.871T>C (p.Phe291Leu) c.817T>C (p.Phe273Leu) | |
| 20 | g.18526409T>G | CA408360098 | SEC23B | c.871T>G (p.Phe291Val) c.817T>G (p.Phe273Val) | |
| 20 | g.18526411del | CA2740097033 | SEC23B | c.873del (p.Phe291LeufsTer18) c.819del (p.Phe273LeufsTer18) | ClinVar |
| 20 | g.18526410T>A | CA408360099 | SEC23B | c.872T>A (p.Phe291Tyr) c.818T>A (p.Phe273Tyr) | |
| 20 | g.18526410T>C | CA408360100 | SEC23B | c.872T>C (p.Phe291Ser) c.818T>C (p.Phe273Ser) | |
| 20 | g.18526410T>G | CA408360101 | SEC23B | c.872T>G (p.Phe291Cys) c.818T>G (p.Phe273Cys) | |
| 20 | g.18526411T>A | CA408360102 | SEC23B | c.873T>A (p.Phe291Leu) c.819T>A (p.Phe273Leu) | |
| 20 | g.18526411T>C | CA9778160 | SEC23B | c.873T>C (p.Phe291=) c.819T>C (p.Phe273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526411T>G | CA408360103 | SEC23B | c.873T>G (p.Phe291Leu) c.819T>G (p.Phe273Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526411T= | CA2353557125 | SEC23B | c.873T= (p.Phe291=) c.819T= (p.Phe273=) | |
| 20 | g.18526412A>C | CA408360105 | SEC23B | c.874A>C (p.Thr292Pro) c.820A>C (p.Thr274Pro) | |
| 20 | g.18526412A>G | CA408360106 | SEC23B | c.874A>G (p.Thr292Ala) c.820A>G (p.Thr274Ala) | |
| 20 | g.18526412A>T | CA408360104 | SEC23B | c.874A>T (p.Thr292Ser) c.820A>T (p.Thr274Ser) | |
| 20 | g.18526412_18526413insTG | CA2652042525 | SEC23B | c.874_875insTG (p.Thr292MetfsTer18) c.820_821insTG (p.Thr274MetfsTer18) | gnomAD v4 |
| 20 | g.18526413C>A | CA408360107 | SEC23B | c.875C>A (p.Thr292Asn) c.821C>A (p.Thr274Asn) | |
| 20 | g.18526413C>G | CA408360108 | SEC23B | c.875C>G (p.Thr292Ser) c.821C>G (p.Thr274Ser) | |
| 20 | g.18526413C>T | CA408360109 | SEC23B | c.875C>T (p.Thr292Ile) c.821C>T (p.Thr274Ile) | ClinVar |
| 20 | g.18526414T>A | CA509826675 | SEC23B | c.876T>A (p.Thr292=) c.822T>A (p.Thr274=) | |
| 20 | g.18526414T>C | CA509826676 | SEC23B | c.876T>C (p.Thr292=) c.822T>C (p.Thr274=) | dbSNP |
| 20 | g.18526414T>G | CA509826677 | SEC23B | c.876T>G (p.Thr292=) c.822T>G (p.Thr274=) | gnomAD v4 |
| 20 | g.18526414T= | CA2353557126 | SEC23B | c.876T= (p.Thr292=) c.822T= (p.Thr274=) | |
| 20 | g.18526415G>A | CA312396275 | SEC23B | c.877G>A (p.Gly293Arg) c.823G>A (p.Gly275Arg) | dbSNP gnomAD v4 |
| 20 | g.18526415G>C | CA408360110 | SEC23B | c.877G>C (p.Gly293Arg) c.823G>C (p.Gly275Arg) | |
| 20 | g.18526415G= | CA2353557127 | SEC23B | c.877G= (p.Gly293=) c.823G= (p.Gly275=) | |
| 20 | g.18526415G>T | CA408360111 | SEC23B | c.877G>T (p.Gly293Ter) c.823G>T (p.Gly275Ter) | gnomAD v4 |
| 20 | g.18526416G>A | CA408360112 | SEC23B | c.878G>A (p.Gly293Glu) c.824G>A (p.Gly275Glu) | |
| 20 | g.18526416G>C | CA408360113 | SEC23B | c.878G>C (p.Gly293Ala) c.824G>C (p.Gly275Ala) | |
| 20 | g.18526416G>T | CA408360114 | SEC23B | c.878G>T (p.Gly293Val) c.824G>T (p.Gly275Val) | |
| 20 | g.18526417A>C | CA509826678 | SEC23B | c.879A>C (p.Gly293=) c.825A>C (p.Gly275=) | |
| 20 | g.18526417A>G | CA509826679 | SEC23B | c.879A>G (p.Gly293=) c.825A>G (p.Gly275=) | ClinVar gnomAD v4 |
| 20 | g.18526417A>T | CA509826680 | SEC23B | c.879A>T (p.Gly293=) c.825A>T (p.Gly275=) | gnomAD v4 |
| 20 | g.18526418G>A | CA408360115 | SEC23B | c.880G>A (p.Gly294Ser) c.826G>A (p.Gly276Ser) | gnomAD v4 |
| 20 | g.18526418G>C | CA408360116 | SEC23B | c.880G>C (p.Gly294Arg) c.826G>C (p.Gly276Arg) | |
| 20 | g.18526418G>T | CA408360117 | SEC23B | c.880G>T (p.Gly294Cys) c.826G>T (p.Gly276Cys) | |
| 20 | g.18526419G>A | CA408360120 | SEC23B | c.881G>A (p.Gly294Asp) c.827G>A (p.Gly276Asp) | |
| 20 | g.18526419G>C | CA408360119 | SEC23B | c.881G>C (p.Gly294Ala) c.827G>C (p.Gly276Ala) | |
| 20 | g.18526419G>T | CA408360118 | SEC23B | c.881G>T (p.Gly294Val) c.827G>T (p.Gly276Val) | gnomAD v4 |
| 20 | g.18526419_18526422del | CA2652042533 | SEC23B | c.881_884del (p.Gly294AlafsTer14) c.827_830del (p.Gly276AlafsTer14) | gnomAD v4 |
| 20 | g.18526420T>A | CA509826683 | SEC23B | c.882T>A (p.Gly294=) c.828T>A (p.Gly276=) | |
| 20 | g.18526420T>C | CA509826681 | SEC23B | c.882T>C (p.Gly294=) c.828T>C (p.Gly276=) | |
| 20 | g.18526420T>G | CA509826682 | SEC23B | c.882T>G (p.Gly294=) c.828T>G (p.Gly276=) | |
| 20 | g.18526421C>A | CA408360121 | SEC23B | c.883C>A (p.Pro295Thr) c.829C>A (p.Pro277Thr) | |
| 20 | g.18526421C= | CA2353557128 | SEC23B | c.883C= (p.Pro295=) c.829C= (p.Pro277=) | |
| 20 | g.18526421C>G | CA408360122 | SEC23B | c.883C>G (p.Pro295Ala) c.829C>G (p.Pro277Ala) | |
| 20 | g.18526421C>T | CA9778161 | SEC23B | c.883C>T (p.Pro295Ser) c.829C>T (p.Pro277Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526425del | CA2553400774 | SEC23B | c.887del (p.Pro296LeufsTer13) c.833del (p.Pro278LeufsTer13) | |
| 20 | g.18526422C>A | CA9778162 | SEC23B | c.884C>A (p.Pro295His) c.830C>A (p.Pro277His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526422C= | CA2353557129 | SEC23B | c.884C= (p.Pro295=) c.830C= (p.Pro277=) | |
| 20 | g.18526422C>G | CA408360123 | SEC23B | c.884C>G (p.Pro295Arg) c.830C>G (p.Pro277Arg) | |
| 20 | g.18526422C>T | CA312396276 | SEC23B | c.884C>T (p.Pro295Leu) c.830C>T (p.Pro277Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.18526423C>A | CA509826684 | SEC23B | c.885C>A (p.Pro295=) c.831C>A (p.Pro277=) | |
| 20 | g.18526423C>G | CA509826685 | SEC23B | c.885C>G (p.Pro295=) c.831C>G (p.Pro277=) | |
| 20 | g.18526423C>T | CA509826686 | SEC23B | c.885C>T (p.Pro295=) c.831C>T (p.Pro277=) | |
| 20 | g.18526424C>A | CA408360124 | SEC23B | c.886C>A (p.Pro296Thr) c.832C>A (p.Pro278Thr) | |
| 20 | g.18526424C= | CA2353557130 | SEC23B | c.886C= (p.Pro296=) c.832C= (p.Pro278=) | |
| 20 | g.18526424C>G | CA408360125 | SEC23B | c.886C>G (p.Pro296Ala) c.832C>G (p.Pro278Ala) | gnomAD v4 |
| 20 | g.18526424C>T | CA408360126 | SEC23B | c.886C>T (p.Pro296Ser) c.832C>T (p.Pro278Ser) | gnomAD v4 |
| 20 | g.18526425C>A | CA408360127 | SEC23B | c.887C>A (p.Pro296His) c.833C>A (p.Pro278His) | |
| 20 | g.18526425C>G | CA408360128 | SEC23B | c.887C>G (p.Pro296Arg) c.833C>G (p.Pro278Arg) | |
| 20 | g.18526425C>T | CA408360129 | SEC23B | c.887C>T (p.Pro296Leu) c.833C>T (p.Pro278Leu) | |
| 20 | g.18526426_18526428dup | CA2353557131 | SEC23B | c.888_890dup (p.Thr297_Gln298insThr) c.834_836dup (p.Thr279_Gln280insThr) | dbSNP |
| 20 | g.18526426T>A | CA509826687 | SEC23B | c.888T>A (p.Pro296=) c.834T>A (p.Pro278=) | |
| 20 | g.18526426T>C | CA509826688 | SEC23B | c.888T>C (p.Pro296=) c.834T>C (p.Pro278=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526426T>G | CA509826689 | SEC23B | c.888T>G (p.Pro296=) c.834T>G (p.Pro278=) | |
| 20 | g.18526426T= | CA2353557132 | SEC23B | c.888T= (p.Pro296=) c.834T= (p.Pro278=) | |
| 20 | g.18526426_18526427insTG | CA2652042543 | SEC23B | c.888_889insTG (p.Thr297Ter) c.834_835insTG (p.Thr279Ter) | gnomAD v4 |
| 20 | g.18526427A>C | CA408360132 | SEC23B | c.889A>C (p.Thr297Pro) c.835A>C (p.Thr279Pro) | gnomAD v4 |
| 20 | g.18526427A>G | CA408360130 | SEC23B | c.889A>G (p.Thr297Ala) c.835A>G (p.Thr279Ala) | |
| 20 | g.18526427A>T | CA408360131 | SEC23B | c.889A>T (p.Thr297Ser) c.835A>T (p.Thr279Ser) | |
| 20 | g.18526428C>A | CA408360133 | SEC23B | c.890C>A (p.Thr297Asn) c.836C>A (p.Thr279Asn) | |
| 20 | g.18526428C= | CA2353557133 | SEC23B | c.890C= (p.Thr297=) c.836C= (p.Thr279=) | |
| 20 | g.18526428C>G | CA408360135 | SEC23B | c.890C>G (p.Thr297Ser) c.836C>G (p.Thr279Ser) | |
| 20 | g.18526428C>T | CA408360134 | SEC23B | c.890C>T (p.Thr297Ile) c.836C>T (p.Thr279Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526429C>A | CA509826690 | SEC23B | c.891C>A (p.Thr297=) c.837C>A (p.Thr279=) | |
| 20 | g.18526429C>G | CA509826691 | SEC23B | c.891C>G (p.Thr297=) c.837C>G (p.Thr279=) | gnomAD v4 |
| 20 | g.18526429C>T | CA509826692 | SEC23B | c.891C>T (p.Thr297=) c.837C>T (p.Thr279=) | ClinVar COSMIC |
| 20 | g.18526430C>A | CA408360136 | SEC23B | c.892C>A (p.Gln298Lys) c.838C>A (p.Gln280Lys) | gnomAD v4 |
| 20 | g.18526430C>G | CA408360138 | SEC23B | c.892C>G (p.Gln298Glu) c.838C>G (p.Gln280Glu) | |
| 20 | g.18526430C>T | CA408360137 | SEC23B | c.892C>T (p.Gln298Ter) c.838C>T (p.Gln280Ter) | |
| 20 | g.18526431A>C | CA408360139 | SEC23B | c.893A>C (p.Gln298Pro) c.839A>C (p.Gln280Pro) | |
| 20 | g.18526431A>G | CA408360140 | SEC23B | c.893A>G (p.Gln298Arg) c.839A>G (p.Gln280Arg) | |
| 20 | g.18526431A>T | CA408360141 | SEC23B | c.893A>T (p.Gln298Leu) c.839A>T (p.Gln280Leu) | |
| 20 | g.18526432A>C | CA408360142 | SEC23B | c.894A>C (p.Gln298His) c.840A>C (p.Gln280His) | |
| 20 | g.18526432A>G | CA509826697 | SEC23B | c.894A>G (p.Gln298=) c.840A>G (p.Gln280=) | |
| 20 | g.18526432A>T | CA408360143 | SEC23B | c.894A>T (p.Gln298His) c.840A>T (p.Gln280His) | |
| 20 | g.18526433G>A | CA408360144 | SEC23B | c.895G>A (p.Gly299Arg) c.841G>A (p.Gly281Arg) | COSMIC |
| 20 | g.18526433G>C | CA408360145 | SEC23B | c.895G>C (p.Gly299Arg) c.841G>C (p.Gly281Arg) | |
| 20 | g.18526433G>T | CA408360146 | SEC23B | c.895G>T (p.Gly299Trp) c.841G>T (p.Gly281Trp) | |
| 20 | g.18526433_18526436del | CA2652042554 | SEC23B | c.895_898del (p.Gly299LeufsTer9) c.841_844del (p.Gly281LeufsTer9) | gnomAD v4 |
| 20 | g.18526434G>A | CA408360147 | SEC23B | c.896G>A (p.Gly299Glu) c.842G>A (p.Gly281Glu) | |
| 20 | g.18526434G>C | CA408360148 | SEC23B | c.896G>C (p.Gly299Ala) c.842G>C (p.Gly281Ala) | |
| 20 | g.18526434G>T | CA408360149 | SEC23B | c.896G>T (p.Gly299Val) c.842G>T (p.Gly281Val) | |
| 20 | g.18526435G>A | CA9778163 | SEC23B | c.897G>A (p.Gly299=) c.843G>A (p.Gly281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526435G>C | CA509826699 | SEC23B | c.897G>C (p.Gly299=) c.843G>C (p.Gly281=) | ClinVar |
| 20 | g.18526435G= | CA2353557134 | SEC23B | c.897G= (p.Gly299=) c.843G= (p.Gly281=) | |
| 20 | g.18526435G>T | CA509826701 | SEC23B | c.897G>T (p.Gly299=) c.843G>T (p.Gly281=) | |
| 20 | g.18526436C>A | CA408360150 | SEC23B | c.898C>A (p.Pro300Thr) c.844C>A (p.Pro282Thr) | |
| 20 | g.18526436C>G | CA408360152 | SEC23B | c.898C>G (p.Pro300Ala) c.844C>G (p.Pro282Ala) | |
| 20 | g.18526436C>T | CA408360151 | SEC23B | c.898C>T (p.Pro300Ser) c.844C>T (p.Pro282Ser) | gnomAD v4 |
| 20 | g.18526437C>A | CA408360153 | SEC23B | c.899C>A (p.Pro300His) c.845C>A (p.Pro282His) | |
| 20 | g.18526437C= | CA2353557135 | SEC23B | c.899C= (p.Pro300=) c.845C= (p.Pro282=) | |
| 20 | g.18526437C>G | CA408360154 | SEC23B | c.899C>G (p.Pro300Arg) c.845C>G (p.Pro282Arg) | |
| 20 | g.18526437C>T | CA312396278 | SEC23B | c.899C>T (p.Pro300Leu) c.845C>T (p.Pro282Leu) | dbSNP |
| 20 | g.18526438T>A | CA509826703 | SEC23B | c.900T>A (p.Pro300=) c.846T>A (p.Pro282=) | |
| 20 | g.18526438T>C | CA509826704 | SEC23B | c.900T>C (p.Pro300=) c.846T>C (p.Pro282=) | |
| 20 | g.18526438T>G | CA509826705 | SEC23B | c.900T>G (p.Pro300=) c.846T>G (p.Pro282=) | |
| 20 | g.18526439G>A | CA408360155 | SEC23B | c.901G>A (p.Gly301Ser) c.847G>A (p.Gly283Ser) | |
| 20 | g.18526439G>C | CA408360156 | SEC23B | c.901G>C (p.Gly301Arg) c.847G>C (p.Gly283Arg) | |
| 20 | g.18526439G>T | CA408360157 | SEC23B | c.901G>T (p.Gly301Cys) c.847G>T (p.Gly283Cys) | |
| 20 | g.18526440G>A | CA408360158 | SEC23B | c.902G>A (p.Gly301Asp) c.848G>A (p.Gly283Asp) | ClinVar dbSNP |
| 20 | g.18526440G>C | CA408360159 | SEC23B | c.902G>C (p.Gly301Ala) c.848G>C (p.Gly283Ala) | |
| 20 | g.18526440G= | CA2353557136 | SEC23B | c.902G= (p.Gly301=) c.848G= (p.Gly283=) | |
| 20 | g.18526440G>T | CA408360160 | SEC23B | c.902G>T (p.Gly301Val) c.848G>T (p.Gly283Val) | dbSNP |
| 20 | g.18526440_18526441insA | CA2652042559 | SEC23B | c.902_903insA (p.Met302HisfsTer6) c.848_849insA (p.Met284HisfsTer6) | gnomAD v4 |
| 20 | g.18526441C>A | CA509826710 | SEC23B | c.903C>A (p.Gly301=) c.849C>A (p.Gly283=) | |
| 20 | g.18526441C>G | CA509826709 | SEC23B | c.903C>G (p.Gly301=) c.849C>G (p.Gly283=) | |
| 20 | g.18526441C>T | CA509826708 | SEC23B | c.903C>T (p.Gly301=) c.849C>T (p.Gly283=) | |
| 20 | g.18526442A= | CA2353557137 | SEC23B | c.904A= (p.Met302=) c.850A= (p.Met284=) | |
| 20 | g.18526442A>C | CA408360163 | SEC23B | c.904A>C (p.Met302Leu) c.850A>C (p.Met284Leu) | |
| 20 | g.18526442A>G | CA408360162 | SEC23B | c.904A>G (p.Met302Val) c.850A>G (p.Met284Val) | dbSNP gnomAD v4 |
| 20 | g.18526442A>T | CA408360161 | SEC23B | c.904A>T (p.Met302Leu) c.850A>T (p.Met284Leu) | |
| 20 | g.18526443T>A | CA408360164 | SEC23B | c.905T>A (p.Met302Lys) c.851T>A (p.Met284Lys) | |
| 20 | g.18526443T>C | CA408360165 | SEC23B | c.905T>C (p.Met302Thr) c.851T>C (p.Met284Thr) | |
| 20 | g.18526443T>G | CA408360166 | SEC23B | c.905T>G (p.Met302Arg) c.851T>G (p.Met284Arg) | |
| 20 | g.18526444G>A | CA408360167 | SEC23B | c.906G>A (p.Met302Ile) c.852G>A (p.Met284Ile) | |
| 20 | g.18526444G>C | CA408360168 | SEC23B | c.906G>C (p.Met302Ile) c.852G>C (p.Met284Ile) | dbSNP |
| 20 | g.18526444G= | CA2353557138 | SEC23B | c.906G= (p.Met302=) c.852G= (p.Met284=) | |
| 20 | g.18526444G>T | CA408360169 | SEC23B | c.906G>T (p.Met302Ile) c.852G>T (p.Met284Ile) |