| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.139372999_139373095dup | CA2680562476 | CITED2 | c.*38_*134dup (n.*38_*134dup) | gnomAD v4 |
| 6 | g.139373069_139373072delinsTTTC | CA1667372192 | CITED2 | c.*60_*63delinsGAAA (n.*60_*63delinsGAAA) | |
| 6 | g.139373072_139373076del | CA2680562528 | CITED2 | c.*59_*63del (n.*59_*63del) | gnomAD v4 |
| 6 | g.139373070_139373072delinsTTC | CA1667372193 | CITED2 | c.*60_*62delinsGAA (n.*60_*62delinsGAA) | |
| 6 | g.139373072_139373074del | CA1095070564 | CITED2 | c.*60_*62del (n.*60_*62del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373072_139373073del | CA1667372194 | CITED2 | c.*60_*61del (n.*60_*61del) | dbSNP |
| 6 | g.139373072C= | CA1667372195 | CITED2 | c.*60G= (n.*60G=) | |
| 6 | g.139373072C>T | CA1667372196 | CITED2 | c.*60G>A (n.*60G>A) | dbSNP gnomAD v4 |
| 6 | g.139373074T>A | CA819731571 | CITED2 | c.*58A>T (n.*58A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373074T= | CA1667372197 | CITED2 | c.*58A= (n.*58A=) | |
| 6 | g.139373075T>C | CA570979090 | CITED2 | c.*57A>G (n.*57A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373075T= | CA1667372198 | CITED2 | c.*57A= (n.*57A=) | |
| 6 | g.139373076T>C | CA2680562529 | CITED2 | c.*56A>G (n.*56A>G) | gnomAD v4 |
| 6 | g.139373077A>T | CA2680562530 | CITED2 | c.*55T>A (n.*55T>A) | gnomAD v4 |
| 6 | g.139373078A= | CA1667372199 | CITED2 | c.*54T= (n.*54T=) | |
| 6 | g.139373078A>G | CA1095070567 | CITED2 | c.*54T>C (n.*54T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373081C>G | CA2680562531 | CITED2 | c.*51G>C (n.*51G>C) | gnomAD v4 |
| 6 | g.139373081C>T | CA2773276756 | CITED2 | c.*51G>A (n.*51G>A) | |
| 6 | g.139373082A>C | CA2578756299 | CITED2 | c.*50T>G (n.*50T>G) | |
| 6 | g.139373083C= | CA1667372200 | CITED2 | c.*49G= (n.*49G=) | |
| 6 | g.139373083C>T | CA4025500 | CITED2 | c.*49G>A (n.*49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373084G>A | CA4025502 | CITED2 | c.*48C>T (n.*48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373084G>C | CA570979091 | CITED2 | c.*48C>G (n.*48C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373084G= | CA1667372201 | CITED2 | c.*48C= (n.*48C=) | |
| 6 | g.139373084G>T | CA4025501 | CITED2 | c.*48C>A (n.*48C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373085C= | CA1667372202 | CITED2 | c.*47G= (n.*47G=) | |
| 6 | g.139373085C>G | CA4025503 | CITED2 | c.*47G>C (n.*47G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373086C>A | CA2680562532 | CITED2 | c.*46G>T (n.*46G>T) | gnomAD v4 |
| 6 | g.139373086C= | CA1667372204 | CITED2 | c.*46G= (n.*46G=) | |
| 6 | g.139373086C>G | CA819731581 | CITED2 | c.*46G>C (n.*46G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373086C>T | CA915381941 | CITED2 | c.*46G>A (n.*46G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373086_139373089delinsCGAA | CA1667372203 | CITED2 | c.*43_*46delinsTTCG (n.*43_*46delinsTTCG) | |
| 6 | g.139373087G>T | CA2680562533 | CITED2 | c.*45C>A (n.*45C>A) | gnomAD v4 |
| 6 | g.139373091_139373093del | CA1667372205 | CITED2 | c.*43_*45del (n.*43_*45del) | dbSNP gnomAD v4 |
| 6 | g.139373088A= | CA1667372206 | CITED2 | c.*44T= (n.*44T=) | |
| 6 | g.139373088A>C | CA4025504 | CITED2 | c.*44T>G (n.*44T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373088A>T | CA2680562534 | CITED2 | c.*44T>A (n.*44T>A) | gnomAD v4 |
| 6 | g.139373090G>A | CA1667372208 | CITED2 | c.*42C>T (n.*42C>T) | dbSNP gnomAD v4 |
| 6 | g.139373090G= | CA1667372207 | CITED2 | c.*42C= (n.*42C=) | |
| 6 | g.139373090G>T | CA570979092 | CITED2 | c.*42C>A (n.*42C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373091A= | CA1667372209 | CITED2 | c.*41T= (n.*41T=) | |
| 6 | g.139373091A>T | CA4025505 | CITED2 | c.*41T>A (n.*41T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373092A= | CA1667372210 | CITED2 | c.*40T= (n.*40T=) | |
| 6 | g.139373092A>C | CA4025506 | CITED2 | c.*40T>G (n.*40T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373093G>A | CA4025507 | CITED2 | c.*39C>T (n.*39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373093G>C | CA2680562535 | CITED2 | c.*39C>G (n.*39C>G) | dbSNP gnomAD v4 |
| 6 | g.139373093G= | CA1667372211 | CITED2 | c.*39C= (n.*39C=) | |
| 6 | g.139373093G>T | CA2680562536 | CITED2 | c.*39C>A (n.*39C>A) | gnomAD v4 |
| 6 | g.139373094T>C | CA4025508 | CITED2 | c.*38A>G (n.*38A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373094T>G | CA148813777 | CITED2 | c.*38A>C (n.*38A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373094T= | CA1667372212 | CITED2 | c.*38A= (n.*38A=) | |
| 6 | g.139373095_139373096delinsTG | CA1667372213 | CITED2 | c.*36_*37delinsCA (n.*36_*37delinsCA) | |
| 6 | g.139373096G>A | CA4025509 | CITED2 | c.*36C>T (n.*36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373096G= | CA1667372214 | CITED2 | c.*36C= (n.*36C=) | |
| 6 | g.139373096G>T | CA2578756300 | CITED2 | c.*36C>A (n.*36C>A) | gnomAD v4 |
| 6 | g.139373100del | CA1095070586 | CITED2 | c.*36del (n.*36del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373097G= | CA1667372215 | CITED2 | c.*35C= (n.*35C=) | |
| 6 | g.139373097G>T | CA570979093 | CITED2 | c.*35C>A (n.*35C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373098G>A | CA819731598 | CITED2 | c.*34C>T (n.*34C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373098G>C | CA2578756301 | CITED2 | c.*34C>G (n.*34C>G) | |
| 6 | g.139373098G= | CA1667372216 | CITED2 | c.*34C= (n.*34C=) | |
| 6 | g.139373099G>A | CA4025510 | CITED2 | c.*33C>T (n.*33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373099G>C | CA1667372218 | CITED2 | c.*33C>G (n.*33C>G) | dbSNP |
| 6 | g.139373099G= | CA1667372217 | CITED2 | c.*33C= (n.*33C=) | |
| 6 | g.139373099G>T | CA2680562537 | CITED2 | c.*33C>A (n.*33C>A) | gnomAD v4 |
| 6 | g.139373099_139373100insT | CA2578756302 | CITED2 | c.*32_*33insA (n.*32_*33insA) | |
| 6 | g.139373100G>A | CA4025511 | CITED2 | c.*32C>T (n.*32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373100G>C | CA2773276757 | CITED2 | c.*32C>G (n.*32C>G) | |
| 6 | g.139373100G= | CA1667372219 | CITED2 | c.*32C= (n.*32C=) | |
| 6 | g.139373100G>T | CA4025512 | CITED2 | c.*32C>A (n.*32C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373100_139373101insA | CA1667372220 | CITED2 | c.*31_*32insT (n.*31_*32insT) | dbSNP |
| 6 | g.139373103T>C | CA4025513 | CITED2 | c.*29A>G (n.*29A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.139373103T= | CA1667372221 | CITED2 | c.*29A= (n.*29A=) | |
| 6 | g.139373104G>A | CA2773276758 | CITED2 | c.*28C>T (n.*28C>T) | |
| 6 | g.139373104G>C | CA2680562538 | CITED2 | c.*28C>G (n.*28C>G) | gnomAD v4 |
| 6 | g.139373104G>T | CA2680562539 | CITED2 | c.*28C>A (n.*28C>A) | gnomAD v4 |
| 6 | g.139373105A= | CA1667372222 | CITED2 | c.*27T= (n.*27T=) | |
| 6 | g.139373105A>G | CA570979094 | CITED2 | c.*27T>C (n.*27T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373105A>T | CA570979095 | CITED2 | c.*27T>A (n.*27T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373105_139373106insGAACTTGGAAACAAAGTAAAC | CA2571712535 | CITED2 | c.*26_*27insGTTTACTTTGTTTCCAAGTTC (n.*26_*27insGTTTACTTTGTTTCCAAGTTC) | |
| 6 | g.139373106T>C | CA1667372224 | CITED2 | c.*26A>G (n.*26A>G) | dbSNP |
| 6 | g.139373106T= | CA1667372223 | CITED2 | c.*26A= (n.*26A=) | |
| 6 | g.139373107_139373108dup | CA2578756303 | CITED2 | c.*25_*26dup (n.*25_*26dup) | |
| 6 | g.139373109C>A | CA2773276759 | CITED2 | c.*23G>T (n.*23G>T) | |
| 6 | g.139373109C= | CA1667372225 | CITED2 | c.*23G= (n.*23G=) | |
| 6 | g.139373109C>T | CA4025514 | CITED2 | c.*23G>A (n.*23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373112T>C | CA2680562540 | CITED2 | c.*20A>G (n.*20A>G) | gnomAD v4 |
| 6 | g.139373113C>A | CA1667372227 | CITED2 | c.*19G>T (n.*19G>T) | dbSNP gnomAD v4 |
| 6 | g.139373113C= | CA1667372226 | CITED2 | c.*19G= (n.*19G=) | |
| 6 | g.139373113C>G | CA819731615 | CITED2 | c.*19G>C (n.*19G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373114G>A | CA2773276760 | CITED2 | c.*18C>T (n.*18C>T) | |
| 6 | g.139373114G= | CA1667372228 | CITED2 | c.*18C= (n.*18C=) | |
| 6 | g.139373114G>T | CA570979096 | CITED2 | c.*18C>A (n.*18C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373116C>A | CA2578756304 | CITED2 | c.*16G>T (n.*16G>T) | |
| 6 | g.139373116C>T | CA2680562541 | CITED2 | c.*16G>A (n.*16G>A) | gnomAD v4 |
| 6 | g.139373117G>A | CA4025515 | CITED2 | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373117G>C | CA2578756305 | CITED2 | c.*15C>G (n.*15C>G) | gnomAD v4 |
| 6 | g.139373117G= | CA1667372229 | CITED2 | c.*15C= (n.*15C=) | |
| 6 | g.139373118G>A | CA570979097 | CITED2 | c.*14C>T (n.*14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373118G>C | CA2578756306 | CITED2 | c.*14C>G (n.*14C>G) | |
| 6 | g.139373118G= | CA1667372230 | CITED2 | c.*14C= (n.*14C=) | |
| 6 | g.139373119G>A | CA570979098 | CITED2 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373119G>C | CA148813778 | CITED2 | c.*13C>G (n.*13C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373119G= | CA1667372231 | CITED2 | c.*13C= (n.*13C=) | |
| 6 | g.139373120G>A | CA570979099 | CITED2 | c.*12C>T (n.*12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373120G= | CA1667372233 | CITED2 | c.*12C= (n.*12C=) | |
| 6 | g.139373120_139373126delinsGTTTCGA | CA1667372232 | CITED2 | c.*6_*12delinsTCGAAAC (n.*6_*12delinsTCGAAAC) | |
| 6 | g.139373121T>C | CA2680562542 | CITED2 | c.*11A>G (n.*11A>G) | gnomAD v4 |
| 6 | g.139373122_139373127del | CA4025516 | CITED2 | c.*6_*11del (n.*6_*11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373123T>C | CA4025517 | CITED2 | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373123T>G | CA570979100 | CITED2 | c.*9A>C (n.*9A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373123T= | CA1667372234 | CITED2 | c.*9A= (n.*9A=) | |
| 6 | g.139373124C>G | CA2680562543 | CITED2 | c.*8G>C (n.*8G>C) | gnomAD v4 |
| 6 | g.139373124C>T | CA2549714272 | CITED2 | c.*8G>A (n.*8G>A) | |
| 6 | g.139373125G>C | CA1095070612 | CITED2 | c.*7C>G (n.*7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373125G= | CA1667372235 | CITED2 | c.*7C= (n.*7C=) | |
| 6 | g.139373125G>T | CA4025518 | CITED2 | c.*7C>A (n.*7C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373126_139373131delinsATCGAG | CA1667372236 | CITED2 | c.*1_*6delinsCTCGAT (n.*1_*6delinsCTCGAT) | |
| 6 | g.139373127T>C | CA2578756307 | CITED2 | c.*5A>G (n.*5A>G) | |
| 6 | g.139373129_139373133del | CA570979101 | CITED2 | c.*1_*5del (n.*1_*5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373128C>A | CA1095070615 | CITED2 | c.*4G>T (n.*4G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373128C= | CA1667372237 | CITED2 | c.*4G= (n.*4G=) | |
| 6 | g.139373128C>G | CA570979102 | CITED2 | c.*4G>C (n.*4G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373128dup | CA2525321203 | CITED2 | c.*4dup (n.*4dup) | |
| 6 | g.139373129G>A | CA570979103 | CITED2 | c.*3C>T (n.*3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373129G>C | CA4025519 | CITED2 | c.*3C>G (n.*3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373129G= | CA1667372238 | CITED2 | c.*3C= (n.*3C=) | |
| 6 | g.139373129G>T | CA2680562544 | CITED2 | c.*3C>A (n.*3C>A) | gnomAD v4 |
| 6 | g.139373130A= | CA1667372239 | CITED2 | c.*2T= (n.*2T=) | |
| 6 | g.139373130A>C | CA1095070617 | CITED2 | c.*2T>G (n.*2T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373130A>G | CA2680562545 | CITED2 | c.*2T>C (n.*2T>C) | gnomAD v4 |
| 6 | g.139373132T>A | CA365875907 | CITED2 | c.813A>T (p.Ter271Cys) c.828A>T (p.Ter276Cys) c.642A>T (p.Ter214Cys) | |
| 6 | g.139373132T>C | CA365875909 | CITED2 | c.813A>G (p.Ter271Trp) c.828A>G (p.Ter276Trp) c.642A>G (p.Ter214Trp) | |
| 6 | g.139373132T>G | CA365875910 | CITED2 | c.813A>C (p.Ter271Cys) c.828A>C (p.Ter276Cys) c.642A>C (p.Ter214Cys) | |
| 6 | g.139373133C>A | CA365875913 | CITED2 | c.812G>T (p.Ter271Leu) c.827G>T (p.Ter276Leu) c.641G>T (p.Ter214Leu) | |
| 6 | g.139373133C= | CA1667372240 | CITED2 | c.812G= (p.Ter271=) c.827G= (p.Ter276=) c.641G= (p.Ter214=) | |
| 6 | g.139373133C>G | CA365875915 | CITED2 | c.812G>C (p.Ter271Ser) c.827G>C (p.Ter276Ser) c.641G>C (p.Ter214Ser) | |
| 6 | g.139373133C>T | CA452441089 | CITED2 | c.812G>A (p.Ter271=) c.827G>A (p.Ter276=) c.641G>A (p.Ter214=) | dbSNP |
| 6 | g.139373134A>C | CA365875917 | CITED2 | c.811T>G (p.Ter271Gly) c.826T>G (p.Ter276Gly) c.640T>G (p.Ter214Gly) | |
| 6 | g.139373134A>G | CA365875919 | CITED2 | c.811T>C (p.Ter271Arg) c.826T>C (p.Ter276Arg) c.640T>C (p.Ter214Arg) | |
| 6 | g.139373134A>T | CA365875921 | CITED2 | c.811T>A (p.Ter271Arg) c.826T>A (p.Ter276Arg) c.640T>A (p.Ter214Arg) | |
| 6 | g.139373135A= | CA1667372241 | CITED2 | c.810T= (p.Cys270=) c.825T= (p.Cys275=) c.639T= (p.Cys213=) | |
| 6 | g.139373135A>C | CA365875923 | CITED2 | c.810T>G (p.Cys270Trp) c.825T>G (p.Cys275Trp) c.639T>G (p.Cys213Trp) | |
| 6 | g.139373135A>G | CA148813779 | CITED2 | c.810T>C (p.Cys270=) c.825T>C (p.Cys275=) c.639T>C (p.Cys213=) | dbSNP |
| 6 | g.139373135A>T | CA365875926 | CITED2 | c.810T>A (p.Cys270Ter) c.825T>A (p.Cys275Ter) c.639T>A (p.Cys213Ter) | |
| 6 | g.139373136C>A | CA365875929 | CITED2 | c.809G>T (p.Cys270Phe) c.824G>T (p.Cys275Phe) c.638G>T (p.Cys213Phe) | |
| 6 | g.139373136C>G | CA365875932 | CITED2 | c.809G>C (p.Cys270Ser) c.824G>C (p.Cys275Ser) c.638G>C (p.Cys213Ser) | |
| 6 | g.139373136C>T | CA365875931 | CITED2 | c.809G>A (p.Cys270Tyr) c.824G>A (p.Cys275Tyr) c.638G>A (p.Cys213Tyr) | |
| 6 | g.139373137A>C | CA365875935 | CITED2 | c.808T>G (p.Cys270Gly) c.823T>G (p.Cys275Gly) c.637T>G (p.Cys213Gly) | |
| 6 | g.139373137A>G | CA365875938 | CITED2 | c.808T>C (p.Cys270Arg) c.823T>C (p.Cys275Arg) c.637T>C (p.Cys213Arg) | |
| 6 | g.139373137A>T | CA365875936 | CITED2 | c.808T>A (p.Cys270Ser) c.823T>A (p.Cys275Ser) c.637T>A (p.Cys213Ser) | |
| 6 | g.139373138G>A | CA452441090 | CITED2 | c.807C>T (p.Ser269=) c.822C>T (p.Ser274=) c.636C>T (p.Ser212=) | dbSNP |
| 6 | g.139373138G>C | CA365875941 | CITED2 | c.807C>G (p.Ser269Arg) c.822C>G (p.Ser274Arg) c.636C>G (p.Ser212Arg) | |
| 6 | g.139373138G= | CA1667372242 | CITED2 | c.807C= (p.Ser269=) c.822C= (p.Ser274=) c.636C= (p.Ser212=) | |
| 6 | g.139373138G>T | CA365875942 | CITED2 | c.807C>A (p.Ser269Arg) c.822C>A (p.Ser274Arg) c.636C>A (p.Ser212Arg) | |
| 6 | g.139373139C>A | CA365875944 | CITED2 | c.806G>T (p.Ser269Ile) c.821G>T (p.Ser274Ile) c.635G>T (p.Ser212Ile) | |
| 6 | g.139373139C= | CA1667372243 | CITED2 | c.806G= (p.Ser269=) c.821G= (p.Ser274=) c.635G= (p.Ser212=) | |
| 6 | g.139373139C>G | CA365875945 | CITED2 | c.806G>C (p.Ser269Thr) c.821G>C (p.Ser274Thr) c.635G>C (p.Ser212Thr) | |
| 6 | g.139373139C>T | CA4025520 | CITED2 | c.806G>A (p.Ser269Asn) c.821G>A (p.Ser274Asn) c.635G>A (p.Ser212Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373140T>A | CA365875949 | CITED2 | c.805A>T (p.Ser269Cys) c.820A>T (p.Ser274Cys) c.634A>T (p.Ser212Cys) | |
| 6 | g.139373140T>C | CA365875951 | CITED2 | c.805A>G (p.Ser269Gly) c.820A>G (p.Ser274Gly) c.634A>G (p.Ser212Gly) | |
| 6 | g.139373140T>G | CA365875953 | CITED2 | c.805A>C (p.Ser269Arg) c.820A>C (p.Ser274Arg) c.634A>C (p.Ser212Arg) | |
| 6 | g.139373141C>A | CA452441091 | CITED2 | c.804G>T (p.Val268=) c.819G>T (p.Val273=) c.633G>T (p.Val211=) | dbSNP |
| 6 | g.139373141C= | CA1667372244 | CITED2 | c.804G= (p.Val268=) c.819G= (p.Val273=) c.633G= (p.Val211=) | |
| 6 | g.139373141C>G | CA452441092 | CITED2 | c.804G>C (p.Val268=) c.819G>C (p.Val273=) c.633G>C (p.Val211=) | |
| 6 | g.139373141C>T | CA452441093 | CITED2 | c.804G>A (p.Val268=) c.819G>A (p.Val273=) c.633G>A (p.Val211=) | |
| 6 | g.139373142A>C | CA365875955 | CITED2 | c.803T>G (p.Val268Gly) c.818T>G (p.Val273Gly) c.632T>G (p.Val211Gly) | |
| 6 | g.139373142A>G | CA365875957 | CITED2 | c.803T>C (p.Val268Ala) c.818T>C (p.Val273Ala) c.632T>C (p.Val211Ala) | |
| 6 | g.139373142A>T | CA365875959 | CITED2 | c.803T>A (p.Val268Glu) c.818T>A (p.Val273Glu) c.632T>A (p.Val211Glu) | |
| 6 | g.139373143C>A | CA365875964 | CITED2 | c.802G>T (p.Val268Leu) c.817G>T (p.Val273Leu) c.631G>T (p.Val211Leu) | |
| 6 | g.139373143C>G | CA365875962 | CITED2 | c.802G>C (p.Val268Leu) c.817G>C (p.Val273Leu) c.631G>C (p.Val211Leu) | |
| 6 | g.139373143C>T | CA365875961 | CITED2 | c.802G>A (p.Val268Met) c.817G>A (p.Val273Met) c.631G>A (p.Val211Met) | |
| 6 | g.139373144T>A | CA365875966 | CITED2 | c.801A>T (p.Arg267Ser) c.816A>T (p.Arg272Ser) c.630A>T (p.Arg210Ser) | |
| 6 | g.139373144T>C | CA452441094 | CITED2 | c.801A>G (p.Arg267=) c.816A>G (p.Arg272=) c.630A>G (p.Arg210=) | |
| 6 | g.139373144T>G | CA365875968 | CITED2 | c.801A>C (p.Arg267Ser) c.816A>C (p.Arg272Ser) c.630A>C (p.Arg210Ser) | |
| 6 | g.139373145C>A | CA365875970 | CITED2 | c.800G>T (p.Arg267Ile) c.815G>T (p.Arg272Ile) c.629G>T (p.Arg210Ile) | |
| 6 | g.139373145C>G | CA365875972 | CITED2 | c.800G>C (p.Arg267Thr) c.815G>C (p.Arg272Thr) c.629G>C (p.Arg210Thr) | |
| 6 | g.139373145C>T | CA365875974 | CITED2 | c.800G>A (p.Arg267Lys) c.815G>A (p.Arg272Lys) c.629G>A (p.Arg210Lys) | |
| 6 | g.139373146T>A | CA365875976 | CITED2 | c.799A>T (p.Arg267Ter) c.814A>T (p.Arg272Ter) c.628A>T (p.Arg210Ter) | |
| 6 | g.139373146T>C | CA365875977 | CITED2 | c.799A>G (p.Arg267Gly) c.814A>G (p.Arg272Gly) c.628A>G (p.Arg210Gly) | |
| 6 | g.139373146T>G | CA452441097 | CITED2 | c.799A>C (p.Arg267=) c.814A>C (p.Arg272=) c.628A>C (p.Arg210=) | |
| 6 | g.139373147G>A | CA452441098 | CITED2 | c.798C>T (p.Ser266=) c.813C>T (p.Ser271=) c.627C>T (p.Ser209=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373147G>C | CA365875979 | CITED2 | c.798C>G (p.Ser266Arg) c.813C>G (p.Ser271Arg) c.627C>G (p.Ser209Arg) | gnomAD v4 |
| 6 | g.139373147G= | CA1667372245 | CITED2 | c.798C= (p.Ser266=) c.813C= (p.Ser271=) c.627C= (p.Ser209=) | |
| 6 | g.139373147G>T | CA365875980 | CITED2 | c.798C>A (p.Ser266Arg) c.813C>A (p.Ser271Arg) c.627C>A (p.Ser209Arg) | |
| 6 | g.139373148C>A | CA365875983 | CITED2 | c.797G>T (p.Ser266Ile) c.812G>T (p.Ser271Ile) c.626G>T (p.Ser209Ile) | |
| 6 | g.139373148C= | CA1667372246 | CITED2 | c.797G= (p.Ser266=) c.812G= (p.Ser271=) c.626G= (p.Ser209=) | |
| 6 | g.139373148C>G | CA365875984 | CITED2 | c.797G>C (p.Ser266Thr) c.812G>C (p.Ser271Thr) c.626G>C (p.Ser209Thr) | |
| 6 | g.139373148C>T | CA4025521 | CITED2 | c.797G>A (p.Ser266Asn) c.812G>A (p.Ser271Asn) c.626G>A (p.Ser209Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373149T>A | CA365875990 | CITED2 | c.796A>T (p.Ser266Cys) c.811A>T (p.Ser271Cys) c.625A>T (p.Ser209Cys) | |
| 6 | g.139373149T>C | CA365875989 | CITED2 | c.796A>G (p.Ser266Gly) c.811A>G (p.Ser271Gly) c.625A>G (p.Ser209Gly) | dbSNP gnomAD v4 |
| 6 | g.139373149T>G | CA365875987 | CITED2 | c.796A>C (p.Ser266Arg) c.811A>C (p.Ser271Arg) c.625A>C (p.Ser209Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373149T= | CA1667372247 | CITED2 | c.796A= (p.Ser266=) c.811A= (p.Ser271=) c.625A= (p.Ser209=) | |
| 6 | g.139373150G>A | CA452441099 | CITED2 | c.795C>T (p.Pro265=) c.810C>T (p.Pro270=) c.624C>T (p.Pro208=) | |
| 6 | g.139373150G>C | CA452441100 | CITED2 | c.795C>G (p.Pro265=) c.810C>G (p.Pro270=) c.624C>G (p.Pro208=) | |
| 6 | g.139373150G>T | CA452441101 | CITED2 | c.795C>A (p.Pro265=) c.810C>A (p.Pro270=) c.624C>A (p.Pro208=) | |
| 6 | g.139373151G>A | CA365875992 | CITED2 | c.794C>T (p.Pro265Leu) c.809C>T (p.Pro270Leu) c.623C>T (p.Pro208Leu) | |
| 6 | g.139373151G>C | CA365875994 | CITED2 | c.794C>G (p.Pro265Arg) c.809C>G (p.Pro270Arg) c.623C>G (p.Pro208Arg) | |
| 6 | g.139373151G>T | CA365875995 | CITED2 | c.794C>A (p.Pro265His) c.809C>A (p.Pro270His) c.623C>A (p.Pro208His) | |
| 6 | g.139373151_139373154delinsGGCT | CA1667372248 | CITED2 | c.791_794delinsAGCC (p.Gln264=) c.806_809delinsAGCC (p.Gln269=) c.620_623delinsAGCC (p.Gln207=) | |
| 6 | g.139373152G>A | CA365875997 | CITED2 | c.793C>T (p.Pro265Ser) c.808C>T (p.Pro270Ser) c.622C>T (p.Pro208Ser) | |
| 6 | g.139373152G>C | CA148813780 | CITED2 | c.793C>G (p.Pro265Ala) c.808C>G (p.Pro270Ala) c.622C>G (p.Pro208Ala) | dbSNP |
| 6 | g.139373152G= | CA1667372249 | CITED2 | c.793C= (p.Pro265=) c.808C= (p.Pro270=) c.622C= (p.Pro208=) | |
| 6 | g.139373152G>T | CA365875999 | CITED2 | c.793C>A (p.Pro265Thr) c.808C>A (p.Pro270Thr) c.622C>A (p.Pro208Thr) | |
| 6 | g.139373156_139373158dup | CA16621848 | CITED2 | c.791_793dup (p.Gln264_Pro265insGln) c.806_808dup (p.Gln269_Pro270insGln) c.620_622dup (p.Gln207_Pro208insGln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373156_139373158del | CA819731686 | CITED2 | c.791_793del (p.Gln264del) c.806_808del (p.Gln269del) c.620_622del (p.Gln207del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373153C>A | CA148813781 | CITED2 | c.792G>T (p.Gln264His) c.807G>T (p.Gln269His) c.621G>T (p.Gln207His) | dbSNP |
| 6 | g.139373153C= | CA1667372250 | CITED2 | c.792G= (p.Gln264=) c.807G= (p.Gln269=) c.621G= (p.Gln207=) | |
| 6 | g.139373153C>G | CA365876003 | CITED2 | c.792G>C (p.Gln264His) c.807G>C (p.Gln269His) c.621G>C (p.Gln207His) | gnomAD v4 |
| 6 | g.139373153C>T | CA452441104 | CITED2 | c.792G>A (p.Gln264=) c.807G>A (p.Gln269=) c.621G>A (p.Gln207=) | dbSNP |
| 6 | g.139373154T>A | CA365876004 | CITED2 | c.791A>T (p.Gln264Leu) c.806A>T (p.Gln269Leu) c.620A>T (p.Gln207Leu) | |
| 6 | g.139373154T>C | CA365876005 | CITED2 | c.791A>G (p.Gln264Arg) c.806A>G (p.Gln269Arg) c.620A>G (p.Gln207Arg) | |
| 6 | g.139373154T>G | CA365876006 | CITED2 | c.791A>C (p.Gln264Pro) c.806A>C (p.Gln269Pro) c.620A>C (p.Gln207Pro) | gnomAD v4 |
| 6 | g.139373155G>A | CA365876008 | CITED2 | c.790C>T (p.Gln264Ter) c.805C>T (p.Gln269Ter) c.619C>T (p.Gln207Ter) | |
| 6 | g.139373155G>C | CA365876011 | CITED2 | c.790C>G (p.Gln264Glu) c.805C>G (p.Gln269Glu) c.619C>G (p.Gln207Glu) | |
| 6 | g.139373155G>T | CA365876012 | CITED2 | c.790C>A (p.Gln264Lys) c.805C>A (p.Gln269Lys) c.619C>A (p.Gln207Lys) | |
| 6 | g.139373156C>A | CA365876014 | CITED2 | c.789G>T (p.Gln263His) c.804G>T (p.Gln268His) c.618G>T (p.Gln206His) | |
| 6 | g.139373156C>G | CA365876016 | CITED2 | c.789G>C (p.Gln263His) c.804G>C (p.Gln268His) c.618G>C (p.Gln206His) | |
| 6 | g.139373156C>T | CA452441108 | CITED2 | c.789G>A (p.Gln263=) c.804G>A (p.Gln268=) c.618G>A (p.Gln206=) | gnomAD v4 |
| 6 | g.139373157T>A | CA365876018 | CITED2 | c.788A>T (p.Gln263Leu) c.803A>T (p.Gln268Leu) c.617A>T (p.Gln206Leu) | |
| 6 | g.139373157T>C | CA365876019 | CITED2 | c.788A>G (p.Gln263Arg) c.803A>G (p.Gln268Arg) c.617A>G (p.Gln206Arg) | |
| 6 | g.139373157T>G | CA365876021 | CITED2 | c.788A>C (p.Gln263Pro) c.803A>C (p.Gln268Pro) c.617A>C (p.Gln206Pro) | |
| 6 | g.139373158G>A | CA365876024 | CITED2 | c.787C>T (p.Gln263Ter) c.802C>T (p.Gln268Ter) c.616C>T (p.Gln206Ter) | |
| 6 | g.139373158G>C | CA365876025 | CITED2 | c.787C>G (p.Gln263Glu) c.802C>G (p.Gln268Glu) c.616C>G (p.Gln206Glu) | |
| 6 | g.139373158G>T | CA365876027 | CITED2 | c.787C>A (p.Gln263Lys) c.802C>A (p.Gln268Lys) c.616C>A (p.Gln206Lys) | |
| 6 | g.139373159T>A | CA365876029 | CITED2 | c.786A>T (p.Lys262Asn) c.801A>T (p.Lys267Asn) c.615A>T (p.Lys205Asn) | |
| 6 | g.139373159T>C | CA452441110 | CITED2 | c.786A>G (p.Lys262=) c.801A>G (p.Lys267=) c.615A>G (p.Lys205=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.139373159T>G | CA365876031 | CITED2 | c.786A>C (p.Lys262Asn) c.801A>C (p.Lys267Asn) c.615A>C (p.Lys205Asn) | |
| 6 | g.139373159T= | CA1667372251 | CITED2 | c.786A= (p.Lys262=) c.801A= (p.Lys267=) c.615A= (p.Lys205=) | |
| 6 | g.139373160T>A | CA365876033 | CITED2 | c.785A>T (p.Lys262Ile) c.800A>T (p.Lys267Ile) c.614A>T (p.Lys205Ile) | |
| 6 | g.139373160T>C | CA365876035 | CITED2 | c.785A>G (p.Lys262Arg) c.800A>G (p.Lys267Arg) c.614A>G (p.Lys205Arg) | |
| 6 | g.139373160T>G | CA365876036 | CITED2 | c.785A>C (p.Lys262Thr) c.800A>C (p.Lys267Thr) c.614A>C (p.Lys205Thr) | gnomAD v4 |
| 6 | g.139373161T>A | CA365876038 | CITED2 | c.784A>T (p.Lys262Ter) c.799A>T (p.Lys267Ter) c.613A>T (p.Lys205Ter) | |
| 6 | g.139373161T>C | CA365876042 | CITED2 | c.784A>G (p.Lys262Glu) c.799A>G (p.Lys267Glu) c.613A>G (p.Lys205Glu) | |
| 6 | g.139373161T>G | CA365876040 | CITED2 | c.784A>C (p.Lys262Gln) c.799A>C (p.Lys267Gln) c.613A>C (p.Lys205Gln) | |
| 6 | g.139373162G>A | CA452441111 | CITED2 | c.783C>T (p.Cys261=) c.798C>T (p.Cys266=) c.612C>T (p.Cys204=) | gnomAD v4 |
| 6 | g.139373162G>C | CA365876045 | CITED2 | c.783C>G (p.Cys261Trp) c.798C>G (p.Cys266Trp) c.612C>G (p.Cys204Trp) | |
| 6 | g.139373162G>T | CA365876047 | CITED2 | c.783C>A (p.Cys261Ter) c.798C>A (p.Cys266Ter) c.612C>A (p.Cys204Ter) | |
| 6 | g.139373163C>A | CA365876049 | CITED2 | c.782G>T (p.Cys261Phe) c.797G>T (p.Cys266Phe) c.611G>T (p.Cys204Phe) | |
| 6 | g.139373163C= | CA1667372252 | CITED2 | c.782G= (p.Cys261=) c.797G= (p.Cys266=) c.611G= (p.Cys204=) | |
| 6 | g.139373163C>G | CA365876052 | CITED2 | c.782G>C (p.Cys261Ser) c.797G>C (p.Cys266Ser) c.611G>C (p.Cys204Ser) | |
| 6 | g.139373163C>T | CA365876051 | CITED2 | c.782G>A (p.Cys261Tyr) c.797G>A (p.Cys266Tyr) c.611G>A (p.Cys204Tyr) | dbSNP |
| 6 | g.139373164A>C | CA365876053 | CITED2 | c.781T>G (p.Cys261Gly) c.796T>G (p.Cys266Gly) c.610T>G (p.Cys204Gly) | |
| 6 | g.139373164A>G | CA365876054 | CITED2 | c.781T>C (p.Cys261Arg) c.796T>C (p.Cys266Arg) c.610T>C (p.Cys204Arg) | |
| 6 | g.139373164A>T | CA365876056 | CITED2 | c.781T>A (p.Cys261Ser) c.796T>A (p.Cys266Ser) c.610T>A (p.Cys204Ser) | |
| 6 | g.139373165C>A | CA452441120 | CITED2 | c.780G>T (p.Val260=) c.795G>T (p.Val265=) c.609G>T (p.Val203=) | |
| 6 | g.139373165C>G | CA452441118 | CITED2 | c.780G>C (p.Val260=) c.795G>C (p.Val265=) c.609G>C (p.Val203=) | |
| 6 | g.139373165C>T | CA452441117 | CITED2 | c.780G>A (p.Val260=) c.795G>A (p.Val265=) c.609G>A (p.Val203=) | |
| 6 | g.139373166A>C | CA365876058 | CITED2 | c.779T>G (p.Val260Gly) c.794T>G (p.Val265Gly) c.608T>G (p.Val203Gly) | gnomAD v4 |
| 6 | g.139373166A>G | CA365876060 | CITED2 | c.779T>C (p.Val260Ala) c.794T>C (p.Val265Ala) c.608T>C (p.Val203Ala) | gnomAD v4 |
| 6 | g.139373166A>T | CA365876062 | CITED2 | c.779T>A (p.Val260Glu) c.794T>A (p.Val265Glu) c.608T>A (p.Val203Glu) | |
| 6 | g.139373166_139373168delinsACG | CA1667372253 | CITED2 | c.777_779delinsCGT (p.Phe259=) c.792_794delinsCGT (p.Phe264=) c.606_608delinsCGT (p.Phe202=) | |
| 6 | g.139373167C>A | CA365876067 | CITED2 | c.778G>T (p.Val260Leu) c.793G>T (p.Val265Leu) c.607G>T (p.Val203Leu) | |
| 6 | g.139373167C>G | CA365876064 | CITED2 | c.778G>C (p.Val260Leu) c.793G>C (p.Val265Leu) c.607G>C (p.Val203Leu) | |
| 6 | g.139373167C>T | CA365876066 | CITED2 | c.778G>A (p.Val260Met) c.793G>A (p.Val265Met) c.607G>A (p.Val203Met) | |
| 6 | g.139373167_139373168del | CA1667372254 | CITED2 | c.777_778del (p.Cys261GlnfsTer?) c.792_793del (p.Cys266GlnfsTer?) c.606_607del (p.Cys204GlnfsTer?) | dbSNP |
| 6 | g.139373168G>A | CA452441124 | CITED2 | c.777C>T (p.Phe259=) c.792C>T (p.Phe264=) c.606C>T (p.Phe202=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.139373168G>C | CA365876069 | CITED2 | c.777C>G (p.Phe259Leu) c.792C>G (p.Phe264Leu) c.606C>G (p.Phe202Leu) | gnomAD v4 |
| 6 | g.139373168G= | CA1667372255 | CITED2 | c.777C= (p.Phe259=) c.792C= (p.Phe264=) c.606C= (p.Phe202=) | |
| 6 | g.139373168G>T | CA4025522 | CITED2 | c.777C>A (p.Phe259Leu) c.792C>A (p.Phe264Leu) c.606C>A (p.Phe202Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.139373169A= | CA1667372256 | CITED2 | c.776T= (p.Phe259=) c.791T= (p.Phe264=) c.605T= (p.Phe202=) | |
| 6 | g.139373169A>C | CA365876072 | CITED2 | c.776T>G (p.Phe259Cys) c.791T>G (p.Phe264Cys) c.605T>G (p.Phe202Cys) | |
| 6 | g.139373169A>G | CA148813782 | CITED2 | c.776T>C (p.Phe259Ser) c.791T>C (p.Phe264Ser) c.605T>C (p.Phe202Ser) | dbSNP |
| 6 | g.139373169A>T | CA365876075 | CITED2 | c.776T>A (p.Phe259Tyr) c.791T>A (p.Phe264Tyr) c.605T>A (p.Phe202Tyr) | dbSNP gnomAD v4 |
| 6 | g.139373170A>C | CA365876078 | CITED2 | c.775T>G (p.Phe259Val) c.790T>G (p.Phe264Val) c.604T>G (p.Phe202Val) | |
| 6 | g.139373170A>G | CA365876082 | CITED2 | c.775T>C (p.Phe259Leu) c.790T>C (p.Phe264Leu) c.604T>C (p.Phe202Leu) | |
| 6 | g.139373170A>T | CA365876080 | CITED2 | c.775T>A (p.Phe259Ile) c.790T>A (p.Phe264Ile) c.604T>A (p.Phe202Ile) | |
| 6 | g.139373171G>A | CA452441129 | CITED2 | c.774C>T (p.Asp258=) c.789C>T (p.Asp263=) c.603C>T (p.Asp201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.139373171G>C | CA365876084 | CITED2 | c.774C>G (p.Asp258Glu) c.789C>G (p.Asp263Glu) c.603C>G (p.Asp201Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.139373171G= | CA1667372257 | CITED2 | c.774C= (p.Asp258=) c.789C= (p.Asp263=) c.603C= (p.Asp201=) | |
| 6 | g.139373171G>T | CA365876085 | CITED2 | c.774C>A (p.Asp258Glu) c.789C>A (p.Asp263Glu) c.603C>A (p.Asp201Glu) |