Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA | CA2580100530 | ClinVar | ||
X | g.30304463G>A | CA2693382692 | NR0B1 | c.*116C>T (n.*116C>T) | gnomAD v4 |
X | g.30304463G>C | CA2693382693 | NR0B1 | c.*116C>G (n.*116C>G) | gnomAD v4 |
X | g.30304463G>T | CA2693382694 | NR0B1 | c.*116C>A (n.*116C>A) | gnomAD v4 |
X | g.30304465A>G | CA2693382695 | NR0B1 | c.*114T>C (n.*114T>C) | gnomAD v4 |
X | g.30304465A>T | CA2820261568 | NR0B1 | c.*114T>A (n.*114T>A) | |
X | g.30304467G>A | CA1132010628 | NR0B1 | c.*112C>T (n.*112C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304467G= | CA2422039122 | NR0B1 | c.*112C= (n.*112C=) | |
X | g.30304467G>T | CA2693382696 | NR0B1 | c.*112C>A (n.*112C>A) | gnomAD v4 |
X | g.30304468T>C | CA2422039124 | NR0B1 | c.*111A>G (n.*111A>G) | dbSNP gnomAD v4 |
X | g.30304468T= | CA2422039123 | NR0B1 | c.*111A= (n.*111A=) | |
X | g.30304473del | CA2693382697 | NR0B1 | c.*110del (n.*110del) | gnomAD v4 |
X | g.30304473A= | CA2422039125 | NR0B1 | c.*106T= (n.*106T=) | |
X | g.30304473A>C | CA327974014 | NR0B1 | c.*106T>G (n.*106T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304477T>C | CA2422039127 | NR0B1 | c.*102A>G (n.*102A>G) | dbSNP |
X | g.30304477T= | CA2422039126 | NR0B1 | c.*102A= (n.*102A=) | |
X | g.30304479A= | CA2422039128 | NR0B1 | c.*100T= (n.*100T=) | |
X | g.30304479A>G | CA874614573 | NR0B1 | c.*100T>C (n.*100T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304480G>A | CA1132010645 | NR0B1 | c.*99C>T (n.*99C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304480G= | CA2422039129 | NR0B1 | c.*99C= (n.*99C=) | |
X | g.30304480G>T | CA2693382698 | NR0B1 | c.*99C>A (n.*99C>A) | gnomAD v4 |
X | g.30304481A= | CA2422039130 | NR0B1 | c.*98T= (n.*98T=) | |
X | g.30304481A>G | CA874614576 | NR0B1 | c.*98T>C (n.*98T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304482A>C | CA2693382699 | NR0B1 | c.*97T>G (n.*97T>G) | gnomAD v4 |
X | g.30304483A>C | CA2738449674 | NR0B1 | c.*96T>G (n.*96T>G) | dbSNP |
X | g.30304484G>A | CA1132010649 | NR0B1 | c.*95C>T (n.*95C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304484G= | CA2422039131 | NR0B1 | c.*95C= (n.*95C=) | |
X | g.30304484G>T | CA2693382700 | NR0B1 | c.*95C>A (n.*95C>A) | gnomAD v4 |
X | g.30304488_30304491dup | CA920403447 | NR0B1 | c.*91_*94dup (n.*91_*94dup) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304488A= | CA2422039132 | NR0B1 | c.*91T= (n.*91T=) | |
X | g.30304488A>G | CA327974015 | NR0B1 | c.*91T>C (n.*91T>C) | dbSNP |
X | g.30304489T>C | CA640974554 | NR0B1 | c.*90A>G (n.*90A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304489T= | CA2422039133 | NR0B1 | c.*90A= (n.*90A=) | |
X | g.30304491T>G | CA327974018 | NR0B1 | c.*88A>C (n.*88A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304491T= | CA2422039134 | NR0B1 | c.*88A= (n.*88A=) | |
X | g.30304492T>G | CA327974023 | NR0B1 | c.*87A>C (n.*87A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30304492T= | CA2422039135 | NR0B1 | c.*87A= (n.*87A=) | |
X | g.30304493A>T | CA2693382701 | NR0B1 | c.*86T>A (n.*86T>A) | gnomAD v4 |
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.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.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.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.30304526T>C | CA2693382717 | NR0B1 | c.*53A>G (n.*53A>G) | gnomAD v4 |
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.30304532T>C | CA2693382719 | NR0B1 | c.*47A>G (n.*47A>G) | gnomAD v4 |
X | g.30304534C>A | CA2693382720 | NR0B1 | c.*45G>T (n.*45G>T) | gnomAD v4 |
X | g.30304536T>A | CA2741740222 | NR0B1 | c.*43A>T (n.*43A>T) | |
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.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.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.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>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 |