Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA | CA2580100530 | ClinVar | ||
X | g.30304493A>T | CA2693382701 | NR0B1 | c.*86T>A (n.*86T>A) | gnomAD v4 |
X | g.30304496dup | CA2842699496 | NR0B1 | c.*86dup (n.*86dup) | |
X | g.30304495_30304496del | CA2820261569 | NR0B1 | c.*85_*86del (n.*85_*86del) | |
X | g.30304494A>G | CA657779999 | NR0B1 | c.*85T>C (n.*85T>C) | COSMIC |
X | g.30304497T>C | CA2422039137 | NR0B1 | c.*82A>G (n.*82A>G) | dbSNP gnomAD v4 |
X | g.30304497T= | CA2422039136 | NR0B1 | c.*82A= (n.*82A=) | |
X | g.30304498_30304500delinsATT | CA2422039138 | NR0B1 | c.*79_*81delinsAAT (n.*79_*81delinsAAT) | |
X | g.30304501_30304502del | CA327974026 | NR0B1 | c.*79_*80del (n.*79_*80del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304500T>C | CA2693382702 | NR0B1 | c.*79A>G (n.*79A>G) | gnomAD v4 |
X | g.30304501T>G | CA2693382703 | NR0B1 | c.*78A>C (n.*78A>C) | gnomAD v4 |
X | g.30304502T>C | CA2693382704 | NR0B1 | c.*77A>G (n.*77A>G) | gnomAD v4 |
X | g.30304503A>G | CA2693382705 | NR0B1 | c.*76T>C (n.*76T>C) | gnomAD v4 |
X | g.30304504C>A | CA2693382706 | NR0B1 | c.*75G>T (n.*75G>T) | gnomAD v4 |
X | g.30304505A>G | CA2579577169 | NR0B1 | c.*74T>C (n.*74T>C) | gnomAD v4 |
X | g.30304505A>T | CA657780011 | NR0B1 | c.*74T>A (n.*74T>A) | COSMIC |
X | g.30304506C>T | CA2693382707 | NR0B1 | c.*73G>A (n.*73G>A) | gnomAD v4 |
X | g.30304507T>C | CA2842699497 | NR0B1 | c.*72A>G (n.*72A>G) | |
X | g.30304508C>G | CA2579577170 | NR0B1 | c.*71G>C (n.*71G>C) | gnomAD v4 |
X | g.30304509T>C | CA2693382709 | NR0B1 | c.*70A>G (n.*70A>G) | gnomAD v4 |
X | g.30304512del | CA2693382708 | NR0B1 | c.*70del (n.*70del) | gnomAD v4 |
X | g.30304510T>A | CA2842699498 | NR0B1 | c.*69A>T (n.*69A>T) | |
X | g.30304511T>C | CA1132010658 | NR0B1 | c.*68A>G (n.*68A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304511T= | CA2422039139 | NR0B1 | c.*68A= (n.*68A=) | |
X | g.30304512T>C | CA2579577171 | NR0B1 | c.*67A>G (n.*67A>G) | |
X | g.30304513G>A | CA2693382710 | NR0B1 | c.*66C>T (n.*66C>T) | gnomAD v4 |
X | g.30304513G>T | CA2693382711 | NR0B1 | c.*66C>A (n.*66C>A) | gnomAD v4 |
X | g.30304514C>T | CA2579577172 | NR0B1 | c.*65G>A (n.*65G>A) | gnomAD v4 |
X | g.30304516del | CA2693382712 | NR0B1 | c.*65del (n.*65del) | gnomAD v4 |
X | g.30304516C>A | CA2842699499 | NR0B1 | c.*63G>T (n.*63G>T) | |
X | g.30304518C= | CA2422039140 | NR0B1 | c.*61G= (n.*61G=) | |
X | g.30304518C>G | CA2422039141 | NR0B1 | c.*61G>C (n.*61G>C) | dbSNP |
X | g.30304518C>T | CA2422039142 | NR0B1 | c.*61G>A (n.*61G>A) | dbSNP gnomAD v4 |
X | g.30304520G>A | CA2693382713 | NR0B1 | c.*59C>T (n.*59C>T) | gnomAD v4 |
X | g.30304520G>T | CA2693382714 | NR0B1 | c.*59C>A (n.*59C>A) | gnomAD v4 |
X | g.30304521C>T | CA2693382715 | NR0B1 | c.*58G>A (n.*58G>A) | gnomAD v4 |
X | g.30304522T>C | CA2693382716 | NR0B1 | c.*57A>G (n.*57A>G) | gnomAD v4 |
X | g.30304524T>C | CA2422039144 | NR0B1 | c.*55A>G (n.*55A>G) | dbSNP |
X | g.30304524T= | CA2422039143 | NR0B1 | c.*55A= (n.*55A=) | |
X | g.30304526del | CA2840006535 | NR0B1 | c.*55del (n.*55del) | |
X | g.30304526T>C | CA2693382717 | NR0B1 | c.*53A>G (n.*53A>G) | gnomAD v4 |
X | g.30304526T>G | CA2840006536 | NR0B1 | c.*53A>C (n.*53A>C) | |
X | g.30304527dup | CA2579577173 | NR0B1 | c.*52dup (n.*52dup) | |
X | g.30304528T>G | CA874614581 | NR0B1 | c.*51A>C (n.*51A>C) | dbSNP |
X | g.30304528T= | CA2422039145 | NR0B1 | c.*51A= (n.*51A=) | |
X | g.30304530C>A | CA2693382718 | NR0B1 | c.*49G>T (n.*49G>T) | gnomAD v4 |
X | g.30304530C>T | CA2842699500 | NR0B1 | c.*49G>A (n.*49G>A) | |
X | g.30304532T>C | CA2693382719 | NR0B1 | c.*47A>G (n.*47A>G) | gnomAD v4 |
X | g.30304533C>A | CA2839144862 | NR0B1 | c.*46G>T (n.*46G>T) | |
X | g.30304534C>A | CA2693382720 | NR0B1 | c.*45G>T (n.*45G>T) | gnomAD v4 |
X | g.30304535C>A | CA2842699501 | NR0B1 | c.*44G>T (n.*44G>T) | |
X | g.30304536T>A | CA2741740222 | NR0B1 | c.*43A>T (n.*43A>T) | |
X | g.30304536T>C | CA2842699502 | NR0B1 | c.*43A>G (n.*43A>G) | |
X | g.30304538A= | CA2422039146 | NR0B1 | c.*41T= (n.*41T=) | |
X | g.30304538A>C | CA2820261570 | NR0B1 | c.*41T>G (n.*41T>G) | |
X | g.30304538A>G | CA2422039147 | NR0B1 | c.*41T>C (n.*41T>C) | dbSNP |
X | g.30304539T>C | CA10376247 | NR0B1 | c.*40A>G (n.*40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304539T= | CA2422039148 | NR0B1 | c.*40A= (n.*40A=) | |
X | g.30304540G>A | CA10376248 | NR0B1 | c.*39C>T (n.*39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304540G= | CA2422039149 | NR0B1 | c.*39C= (n.*39C=) | |
X | g.30304540G>T | CA657780015 | NR0B1 | c.*39C>A (n.*39C>A) | gnomAD v4 COSMIC |
X | g.30304541G>T | CA2693382721 | NR0B1 | c.*38C>A (n.*38C>A) | gnomAD v4 |
X | g.30304543G>T | CA2693382722 | NR0B1 | c.*36C>A (n.*36C>A) | gnomAD v4 |
X | g.30304544A>G | CA2842699503 | NR0B1 | c.*35T>C (n.*35T>C) | |
X | g.30304545A= | CA2422039150 | NR0B1 | c.*34T= (n.*34T=) | |
X | g.30304545A>T | CA10376249 | NR0B1 | c.*34T>A (n.*34T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304546C>T | CA2839144861 | NR0B1 | c.*33G>A (n.*33G>A) | |
X | g.30304548G>A | CA2842699505 | NR0B1 | c.*31C>T (n.*31C>T) | |
X | g.30304548G>T | CA2842699504 | NR0B1 | c.*31C>A (n.*31C>A) | |
X | g.30304549C>A | CA2693382723 | NR0B1 | c.*30G>T (n.*30G>T) | gnomAD v4 |
X | g.30304549C>T | CA2693382724 | NR0B1 | c.*30G>A (n.*30G>A) | gnomAD v4 |
X | g.30304551C>A | CA2579577175 | NR0B1 | c.*28G>T (n.*28G>T) | gnomAD v4 |
X | g.30304551C= | CA2422039151 | NR0B1 | c.*28G= (n.*28G=) | |
X | g.30304551C>G | CA10376250 | NR0B1 | c.*28G>C (n.*28G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304551C>T | CA2579577174 | NR0B1 | c.*28G>A (n.*28G>A) | |
X | g.30304553A>G | CA2693382725 | NR0B1 | c.*26T>C (n.*26T>C) | gnomAD v4 |
X | g.30304554C>T | CA2693382726 | NR0B1 | c.*25G>A (n.*25G>A) | gnomAD v4 |
X | g.30304555T>G | CA640974557 | NR0B1 | c.*24A>C (n.*24A>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30304555T= | CA2422039152 | NR0B1 | c.*24A= (n.*24A=) | |
X | g.30304556G>A | CA2693382728 | NR0B1 | c.*23C>T (n.*23C>T) | gnomAD v4 |
X | g.30304556G>T | CA2693382727 | NR0B1 | c.*23C>A (n.*23C>A) | gnomAD v4 |
X | g.30304557C= | CA2422039153 | NR0B1 | c.*22G= (n.*22G=) | |
X | g.30304557C>T | CA640974559 | NR0B1 | c.*22G>A (n.*22G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30304557dup | CA2838932923 | NR0B1 | c.*22dup (n.*22dup) | |
X | g.30304558A= | CA2422039154 | NR0B1 | c.*21T= (n.*21T=) | |
X | g.30304558A>C | CA2422039155 | NR0B1 | c.*21T>G (n.*21T>G) | dbSNP |
X | g.30304559C= | CA2422039156 | NR0B1 | c.*20G= (n.*20G=) | |
X | g.30304559C>T | CA874614587 | NR0B1 | c.*20G>A (n.*20G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304560T>C | CA2842699506 | NR0B1 | c.*19A>G (n.*19A>G) | |
X | g.30304560T>G | CA10376251 | NR0B1 | c.*19A>C (n.*19A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30304560T= | CA2422039157 | NR0B1 | c.*19A= (n.*19A=) | |
X | g.30304561_30304935delinsTGTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTC | CA2422039158 | NR0B1 | c.1169-112_*18delinsGAAGCTTTGGGTCTTGTTTAATTGGGATGAAACAGAAATGGCTATTTTTAAAAAGCTAGCAAAGGACTCTGTGGTGAGCTGTTTTATAACAAAGAGATTTTTCTCCCTCCAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAATACTCAGTGAACACACCAGGATGACGCACCAAGGGCCCCATGACAGATTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCAATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGATATAAAGTCATGTGGGCCACACA | |
X | g.30304562G>C | CA2693382729 | NR0B1 | c.*17C>G (n.*17C>G) | gnomAD v4 |
X | g.30304562_30304935delinsCA | CA658653867 | NR0B1 | c.1169-112_*17delinsTG | ClinVar dbSNP |
X | g.30304563T>A | CA2839144863 | NR0B1 | c.*16A>T (n.*16A>T) | |
X | g.30304563T>C | CA2693382730 | NR0B1 | c.*16A>G (n.*16A>G) | gnomAD v4 |
X | g.30304564G>T | CA2842699507 | NR0B1 | c.*15C>A (n.*15C>A) | |
X | g.30304565T>A | CA2842699508 | NR0B1 | c.*14A>T (n.*14A>T) | |
X | g.30304565T>C | CA10376252 | NR0B1 | c.*14A>G (n.*14A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304565T= | CA2422039159 | NR0B1 | c.*14A= (n.*14A=) | |
X | g.30304566G>A | CA874614590 | NR0B1 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304566G= | CA2422039160 | NR0B1 | c.*13C= (n.*13C=) | |
X | g.30304566G>T | CA2563791619 | NR0B1 | c.*13C>A (n.*13C>A) | |
X | g.30304567dup | CA2842699509 | NR0B1 | c.*13dup (n.*13dup) | |
X | g.30304567G>T | CA2842699510 | NR0B1 | c.*12C>A (n.*12C>A) | |
X | g.30304568C= | CA2422039161 | NR0B1 | c.*11G= (n.*11G=) | |
X | g.30304568C>T | CA1132010663 | NR0B1 | c.*11G>A (n.*11G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304569C>A | CA2838932924 | NR0B1 | c.*10G>T (n.*10G>T) | |
X | g.30304569C>T | CA2842699511 | NR0B1 | c.*10G>A (n.*10G>A) | |
X | g.30304569_30304570insA | CA657780017 | NR0B1 | c.*9_*10insT (n.*9_*10insT) | COSMIC |
X | g.30304570C>A | CA10376253 | NR0B1 | c.*9G>T (n.*9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30304570C= | CA2422039162 | NR0B1 | c.*9G= (n.*9G=) | |
X | g.30304571A>G | CA2563281222 | NR0B1 | c.*8T>C (n.*8T>C) | |
X | g.30304572C>A | CA2551784435 | NR0B1 | c.*7G>T (n.*7G>T) | |
X | g.30304572C>T | CA2579577176 | NR0B1 | c.*7G>A (n.*7G>A) | gnomAD v4 |
X | g.30304573A= | CA2422039163 | NR0B1 | c.*6T= (n.*6T=) | |
X | g.30304573A>G | CA874614592 | NR0B1 | c.*6T>C (n.*6T>C) | dbSNP gnomAD v4 |
X | g.30304574T>A | CA327974048 | NR0B1 | c.*5A>T (n.*5A>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304574T>C | CA2820261571 | NR0B1 | c.*5A>G (n.*5A>G) | |
X | g.30304574T>G | CA2579577177 | NR0B1 | c.*5A>C (n.*5A>C) | gnomAD v4 |
X | g.30304574T= | CA2422039164 | NR0B1 | c.*5A= (n.*5A=) | |
X | g.30304575G>A | CA2693382731 | NR0B1 | c.*4C>T (n.*4C>T) | gnomAD v4 |
X | g.30304575G>T | CA2693382732 | NR0B1 | c.*4C>A (n.*4C>A) | gnomAD v4 |
X | g.30304576A>C | CA2524973675 | NR0B1 | c.*3T>G (n.*3T>G) | |
X | g.30304576A>G | CA2566768107 | NR0B1 | c.*3T>C (n.*3T>C) | |
X | g.30304576A>T | CA2842699512 | NR0B1 | c.*3T>A (n.*3T>A) | |
X | g.30304577C>T | CA2525437009 | NR0B1 | c.*2G>A (n.*2G>A) | gnomAD v4 |
X | g.30304580dup | CA2842699513 | NR0B1 | c.*1dup (n.*1dup) | |
X | g.30304579T>A | CA412544254 | NR0B1 | c.1413A>T (p.Ter471Tyr) | |
X | g.30304579T>C | CA515715948 | NR0B1 | c.1413A>G (p.Ter471=) | |
X | g.30304579T>G | CA412544253 | NR0B1 | c.1413A>C (p.Ter471Tyr) | |
X | g.30304580T>A | CA412544255 | NR0B1 | c.1412A>T (p.Ter471Leu) | |
X | g.30304580T>C | CA515715950 | NR0B1 | c.1412A>G (p.Ter471=) | gnomAD v4 |
X | g.30304580T>G | CA412544256 | NR0B1 | c.1412A>C (p.Ter471Ser) | |
X | g.30304581A= | CA2422039165 | NR0B1 | c.1411T= (p.Ter471=) | |
X | g.30304581A>C | CA412544257 | NR0B1 | c.1411T>G (p.Ter471Glu) | |
X | g.30304581A>G | CA412544258 | NR0B1 | c.1411T>C (p.Ter471Gln) | ClinVar dbSNP |
X | g.30304581A>T | CA412544259 | NR0B1 | c.1411T>A (p.Ter471Lys) | |
X | g.30304582T>A | CA515715952 | NR0B1 | c.1410A>T (p.Ile470=) | |
X | g.30304582T>C | CA10376254 | NR0B1 | c.1410A>G (p.Ile470Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304582T>G | CA515715953 | NR0B1 | c.1410A>C (p.Ile470=) | |
X | g.30304582T= | CA2422039166 | NR0B1 | c.1410A= (p.Ile470=) | |
X | g.30304583A>C | CA412544262 | NR0B1 | c.1409T>G (p.Ile470Arg) | |
X | g.30304583A>G | CA412544260 | NR0B1 | c.1409T>C (p.Ile470Thr) | gnomAD v4 |
X | g.30304583A>T | CA412544261 | NR0B1 | c.1409T>A (p.Ile470Lys) | |
X | g.30304584T>A | CA412544263 | NR0B1 | c.1408A>T (p.Ile470Leu) | gnomAD v4 |
X | g.30304584T>C | CA412544264 | NR0B1 | c.1408A>G (p.Ile470Val) | |
X | g.30304584T>G | CA412544265 | NR0B1 | c.1408A>C (p.Ile470Leu) | |
X | g.30304585C>A | CA412544266 | NR0B1 | c.1407G>T (p.Lys469Asn) | |
X | g.30304585C>G | CA412544267 | NR0B1 | c.1407G>C (p.Lys469Asn) | |
X | g.30304585C>T | CA515715956 | NR0B1 | c.1407G>A (p.Lys469=) | |
X | g.30304586T>A | CA412544268 | NR0B1 | c.1406A>T (p.Lys469Met) | |
X | g.30304586T>C | CA412544270 | NR0B1 | c.1406A>G (p.Lys469Arg) | |
X | g.30304586T>G | CA412544269 | NR0B1 | c.1406A>C (p.Lys469Thr) | |
X | g.30304588dup | CA2838932921 | NR0B1 | c.1406dup (p.Ile470AspfsTer?) | |
X | g.30304587T>A | CA412544271 | NR0B1 | c.1405A>T (p.Lys469Ter) | |
X | g.30304587T>C | CA412544272 | NR0B1 | c.1405A>G (p.Lys469Glu) | gnomAD v4 |
X | g.30304587T>G | CA412544273 | NR0B1 | c.1405A>C (p.Lys469Gln) | |
X | g.30304588T>A | CA515715959 | NR0B1 | c.1404A>T (p.Thr468=) | |
X | g.30304588T>C | CA515715960 | NR0B1 | c.1404A>G (p.Thr468=) | |
X | g.30304588T>G | CA515715961 | NR0B1 | c.1404A>C (p.Thr468=) | gnomAD v4 |
X | g.30304589G>A | CA412544274 | NR0B1 | c.1403C>T (p.Thr468Ile) | |
X | g.30304589G>C | CA412544275 | NR0B1 | c.1403C>G (p.Thr468Arg) | |
X | g.30304589G>T | CA412544276 | NR0B1 | c.1403C>A (p.Thr468Lys) | |
X | g.30304590T>A | CA412544277 | NR0B1 | c.1402A>T (p.Thr468Ser) | |
X | g.30304590T>C | CA412544278 | NR0B1 | c.1402A>G (p.Thr468Ala) | COSMIC |
X | g.30304590T>G | CA412544279 | NR0B1 | c.1402A>C (p.Thr468Pro) | |
X | g.30304591A>C | CA412544280 | NR0B1 | c.1401T>G (p.Cys467Trp) | |
X | g.30304591A>G | CA515715962 | NR0B1 | c.1401T>C (p.Cys467=) | |
X | g.30304591A>T | CA412544281 | NR0B1 | c.1401T>A (p.Cys467Ter) | |
X | g.30304592C>A | CA412544283 | NR0B1 | c.1400G>T (p.Cys467Phe) | |
X | g.30304592C>G | CA412544284 | NR0B1 | c.1400G>C (p.Cys467Ser) | |
X | g.30304592C>T | CA412544282 | NR0B1 | c.1400G>A (p.Cys467Tyr) | |
X | g.30304593A>C | CA412544285 | NR0B1 | c.1399T>G (p.Cys467Gly) | |
X | g.30304593A>G | CA412544286 | NR0B1 | c.1399T>C (p.Cys467Arg) | |
X | g.30304593A>T | CA412544287 | NR0B1 | c.1399T>A (p.Cys467Ser) |