| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308130T>C | CA2693383128 | NR0B1 | c.1168+66A>G (n.1168+66A>G) c.283+66A>G (n.283+66A>G) | gnomAD v4 |
| X | g.30308131A>G | CA2820256698 | NR0B1 | c.1168+65T>C (n.1168+65T>C) c.283+65T>C (n.283+65T>C) | |
| X | g.30308131A>T | CA2579577199 | NR0B1 | c.1168+65T>A (n.1168+65T>A) c.283+65T>A (n.283+65T>A) | gnomAD v4 |
| X | g.30308132G>A | CA2693383129 | NR0B1 | c.1168+64C>T (n.1168+64C>T) c.283+64C>T (n.283+64C>T) | gnomAD v4 |
| X | g.30308132G>T | CA2579577200 | NR0B1 | c.1168+64C>A (n.1168+64C>A) c.283+64C>A (n.283+64C>A) | gnomAD v4 |
| X | g.30308134T>C | CA874615815 | NR0B1 | c.1168+62A>G (n.1168+62A>G) c.283+62A>G (n.283+62A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308134T>G | CA2820256699 | NR0B1 | c.1168+62A>C (n.1168+62A>C) c.283+62A>C (n.283+62A>C) | |
| X | g.30308134T= | CA2422040340 | NR0B1 | c.1168+62A= (n.1168+62A=) c.283+62A= (n.283+62A=) | |
| X | g.30308135A>T | CA2693383130 | NR0B1 | c.1168+61T>A (n.1168+61T>A) c.283+61T>A (n.283+61T>A) | gnomAD v4 |
| X | g.30308136G>T | CA2579577201 | NR0B1 | c.1168+60C>A (n.1168+60C>A) c.283+60C>A (n.283+60C>A) | gnomAD v4 |
| X | g.30308138C>A | CA327975693 | NR0B1 | c.1168+58G>T (n.1168+58G>T) c.283+58G>T (n.283+58G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308138C= | CA2422040341 | NR0B1 | c.1168+58G= (n.1168+58G=) c.283+58G= (n.283+58G=) | |
| X | g.30308138C>T | CA2693383131 | NR0B1 | c.1168+58G>A (n.1168+58G>A) c.283+58G>A (n.283+58G>A) | gnomAD v4 |
| X | g.30308140C>T | CA2579577202 | NR0B1 | c.1168+56G>A (n.1168+56G>A) c.283+56G>A (n.283+56G>A) | |
| X | g.30308144_30308150del | CA2693383132 | NR0B1 | c.1168+49_1168+55del (n.1168+49_1168+55del) c.283+49_283+55del (n.283+49_283+55del) | gnomAD v4 |
| X | g.30308142G>T | CA2693383133 | NR0B1 | c.1168+54C>A (n.1168+54C>A) c.283+54C>A (n.283+54C>A) | gnomAD v4 |
| X | g.30308143C>A | CA327975695 | NR0B1 | c.1168+53G>T (n.1168+53G>T) c.283+53G>T (n.283+53G>T) | dbSNP gnomAD v4 |
| X | g.30308143C= | CA2422040342 | NR0B1 | c.1168+53G= (n.1168+53G=) c.283+53G= (n.283+53G=) | |
| X | g.30308143C>G | CA2693383134 | NR0B1 | c.1168+53G>C (n.1168+53G>C) c.283+53G>C (n.283+53G>C) | gnomAD v4 |
| X | g.30308143C>T | CA2579577203 | NR0B1 | c.1168+53G>A (n.1168+53G>A) c.283+53G>A (n.283+53G>A) | gnomAD v4 |
| X | g.30308145del | CA2579577204 | NR0B1 | c.1168+53del (n.1168+53del) c.283+53del (n.283+53del) | |
| X | g.30308144C>A | CA2693383135 | NR0B1 | c.1168+52G>T (n.1168+52G>T) c.283+52G>T (n.283+52G>T) | gnomAD v4 |
| X | g.30308144C>G | CA2693383136 | NR0B1 | c.1168+52G>C (n.1168+52G>C) c.283+52G>C (n.283+52G>C) | gnomAD v4 |
| X | g.30308144C>T | CA2693383137 | NR0B1 | c.1168+52G>A (n.1168+52G>A) c.283+52G>A (n.283+52G>A) | gnomAD v4 |
| X | g.30308145C>A | CA2422040344 | NR0B1 | c.1168+51G>T (n.1168+51G>T) c.283+51G>T (n.283+51G>T) | dbSNP gnomAD v4 |
| X | g.30308145C= | CA2422040343 | NR0B1 | c.1168+51G= (n.1168+51G=) c.283+51G= (n.283+51G=) | |
| X | g.30308145C>G | CA2820256700 | NR0B1 | c.1168+51G>C (n.1168+51G>C) c.283+51G>C (n.283+51G>C) | |
| X | g.30308145C>T | CA10376301 | NR0B1 | c.1168+51G>A (n.1168+51G>A) c.283+51G>A (n.283+51G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308146G>C | CA1132011784 | NR0B1 | c.1168+50C>G (n.1168+50C>G) c.283+50C>G (n.283+50C>G) | dbSNP |
| X | g.30308146G= | CA2422040345 | NR0B1 | c.1168+50C= (n.1168+50C=) c.283+50C= (n.283+50C=) | |
| X | g.30308146G>T | CA2693383138 | NR0B1 | c.1168+50C>A (n.1168+50C>A) c.283+50C>A (n.283+50C>A) | gnomAD v4 |
| X | g.30308150C>A | CA640975159 | NR0B1 | c.1168+46G>T (n.1168+46G>T) c.283+46G>T (n.283+46G>T) | dbSNP gnomAD v2 |
| X | g.30308150C= | CA2422040346 | NR0B1 | c.1168+46G= (n.1168+46G=) c.283+46G= (n.283+46G=) | |
| X | g.30308150C>G | CA2693383139 | NR0B1 | c.1168+46G>C (n.1168+46G>C) c.283+46G>C (n.283+46G>C) | gnomAD v4 |
| X | g.30308150C>T | CA874615822 | NR0B1 | c.1168+46G>A (n.1168+46G>A) c.283+46G>A (n.283+46G>A) | dbSNP |
| X | g.30308154del | CA2579577205 | NR0B1 | c.1168+45del (n.1168+45del) c.283+45del (n.283+45del) | |
| X | g.30308152T>G | CA2693383140 | NR0B1 | c.1168+44A>C (n.1168+44A>C) c.283+44A>C (n.283+44A>C) | gnomAD v4 |
| X | g.30308153T>C | CA2579577206 | NR0B1 | c.1168+43A>G (n.1168+43A>G) c.283+43A>G (n.283+43A>G) | gnomAD v4 |
| X | g.30308154T>C | CA10376302 | NR0B1 | c.1168+42A>G (n.1168+42A>G) c.283+42A>G (n.283+42A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.30308154T= | CA2422040347 | NR0B1 | c.1168+42A= (n.1168+42A=) c.283+42A= (n.283+42A=) | |
| X | g.30308156T>C | CA2693383141 | NR0B1 | c.1168+40A>G (n.1168+40A>G) c.283+40A>G (n.283+40A>G) | gnomAD v4 |
| X | g.30308156T>G | CA2693383142 | NR0B1 | c.1168+40A>C (n.1168+40A>C) c.283+40A>C (n.283+40A>C) | gnomAD v4 |
| X | g.30308157G>C | CA2548999980 | NR0B1 | c.1168+39C>G (n.1168+39C>G) c.283+39C>G (n.283+39C>G) | |
| X | g.30308158A>T | CA2579577207 | NR0B1 | c.1168+38T>A (n.1168+38T>A) c.283+38T>A (n.283+38T>A) | |
| X | g.30308159G>T | CA2693383143 | NR0B1 | c.1168+37C>A (n.1168+37C>A) c.283+37C>A (n.283+37C>A) | gnomAD v4 |
| X | g.30308160C>A | CA2579577208 | NR0B1 | c.1168+36G>T (n.1168+36G>T) c.283+36G>T (n.283+36G>T) | |
| X | g.30308162G>T | CA2579577209 | NR0B1 | c.1168+34C>A (n.1168+34C>A) c.283+34C>A (n.283+34C>A) | gnomAD v4 |
| X | g.30308164del | CA2693383144 | NR0B1 | c.1168+34del (n.1168+34del) c.283+34del (n.283+34del) | gnomAD v4 |
| X | g.30308163G>T | CA2579577210 | NR0B1 | c.1168+33C>A (n.1168+33C>A) c.283+33C>A (n.283+33C>A) | gnomAD v4 |
| X | g.30308165A= | CA2422040348 | NR0B1 | c.1168+31T= (n.1168+31T=) c.283+31T= (n.283+31T=) | |
| X | g.30308165A>G | CA10376303 | NR0B1 | c.1168+31T>C (n.1168+31T>C) c.283+31T>C (n.283+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308168del | CA2579577211 | NR0B1 | c.1168+31del (n.1168+31del) c.283+31del (n.283+31del) | gnomAD v4 |
| X | g.30308168A>G | CA2693383145 | NR0B1 | c.1168+28T>C (n.1168+28T>C) c.283+28T>C (n.283+28T>C) | gnomAD v4 |
| X | g.30308169G>T | CA2693383146 | NR0B1 | c.1168+27C>A (n.1168+27C>A) c.283+27C>A (n.283+27C>A) | gnomAD v4 |
| X | g.30308170C>T | CA2579577212 | NR0B1 | c.1168+26G>A (n.1168+26G>A) c.283+26G>A (n.283+26G>A) | gnomAD v4 |
| X | g.30308171C= | CA2422040349 | NR0B1 | c.1168+25G= (n.1168+25G=) c.283+25G= (n.283+25G=) | |
| X | g.30308171C>T | CA640975160 | NR0B1 | c.1168+25G>A (n.1168+25G>A) c.283+25G>A (n.283+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.30308172G>A | CA640975161 | NR0B1 | c.1168+24C>T (n.1168+24C>T) c.283+24C>T (n.283+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308172G= | CA2422040350 | NR0B1 | c.1168+24C= (n.1168+24C=) c.283+24C= (n.283+24C=) | |
| X | g.30308173G>C | CA2693383147 | NR0B1 | c.1168+23C>G (n.1168+23C>G) c.283+23C>G (n.283+23C>G) | gnomAD v4 |
| X | g.30308174C>A | CA2693383149 | NR0B1 | c.1168+22G>T (n.1168+22G>T) c.283+22G>T (n.283+22G>T) | gnomAD v4 |
| X | g.30308174C= | CA2422040351 | NR0B1 | c.1168+22G= (n.1168+22G=) c.283+22G= (n.283+22G=) | |
| X | g.30308174C>G | CA10376304 | NR0B1 | c.1168+22G>C (n.1168+22G>C) c.283+22G>C (n.283+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308174C>T | CA2693383148 | NR0B1 | c.1168+22G>A (n.1168+22G>A) c.283+22G>A (n.283+22G>A) | gnomAD v4 |
| X | g.30308175G>A | CA2693383150 | NR0B1 | c.1168+21C>T (n.1168+21C>T) c.283+21C>T (n.283+21C>T) | gnomAD v4 |
| X | g.30308175G= | CA2422040354 | NR0B1 | c.1168+21C= (n.1168+21C=) c.283+21C= (n.283+21C=) | |
| X | g.30308175G>T | CA2422040353 | NR0B1 | c.1168+21C>A (n.1168+21C>A) c.283+21C>A (n.283+21C>A) | dbSNP gnomAD v4 |
| X | g.30308175_30308195delinsGCCTAAGGCCAGTACCCTTAC | CA2422040352 | NR0B1 | c.1168+1_1168+21delinsGTAAGGGTACTGGCCTTAGGC (n.1168+1_1168+21delinsGTAAGGGTACTGGCCTTAGGC) c.283+1_283+21delinsGTAAGGGTACTGGCCTTAGGC (n.283+1_283+21delinsGTAAGGGTACTGGCCTTAGGC) | |
| X | g.30308178_30308197del | CA658684286 | NR0B1 | c.1168+1_1168+20del c.283+1_283+20del | ClinVar dbSNP |
| X | g.30308177C= | CA2422040355 | NR0B1 | c.1168+19G= (n.1168+19G=) c.283+19G= (n.283+19G=) | |
| X | g.30308177C>T | CA2422040356 | NR0B1 | c.1168+19G>A (n.1168+19G>A) c.283+19G>A (n.283+19G>A) | dbSNP gnomAD v4 |
| X | g.30308178T>C | CA2693383151 | NR0B1 | c.1168+18A>G (n.1168+18A>G) c.283+18A>G (n.283+18A>G) | gnomAD v4 |
| X | g.30308179A= | CA2422040357 | NR0B1 | c.1168+17T= (n.1168+17T=) c.283+17T= (n.283+17T=) | |
| X | g.30308179A>G | CA640975162 | NR0B1 | c.1168+17T>C (n.1168+17T>C) c.283+17T>C (n.283+17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308181G>C | CA2579577213 | NR0B1 | c.1168+15C>G (n.1168+15C>G) c.283+15C>G (n.283+15C>G) | gnomAD v4 |
| X | g.30308181G>T | CA2693383152 | NR0B1 | c.1168+15C>A (n.1168+15C>A) c.283+15C>A (n.283+15C>A) | gnomAD v4 |
| X | g.30308182G= | CA2422040358 | NR0B1 | c.1168+14C= (n.1168+14C=) c.283+14C= (n.283+14C=) | |
| X | g.30308182G>T | CA2693383153 | NR0B1 | c.1168+14C>A (n.1168+14C>A) c.283+14C>A (n.283+14C>A) | gnomAD v4 |
| X | g.30308183C>A | CA2422040360 | NR0B1 | c.1168+13G>T (n.1168+13G>T) c.283+13G>T (n.283+13G>T) | dbSNP |
| X | g.30308183C= | CA2422040359 | NR0B1 | c.1168+13G= (n.1168+13G=) c.283+13G= (n.283+13G=) | |
| X | g.30308184dup | CA10376305 | NR0B1 | c.1168+13dup (n.1168+13dup) c.283+13dup (n.283+13dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308186G>C | CA10376306 | NR0B1 | c.1168+10C>G (n.1168+10C>G) c.283+10C>G (n.283+10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308186G= | CA2422040361 | NR0B1 | c.1168+10C= (n.1168+10C=) c.283+10C= (n.283+10C=) | |
| X | g.30308188A>C | CA2592793171 | NR0B1 | c.1168+8T>G (n.1168+8T>G) c.283+8T>G (n.283+8T>G) | gnomAD v3 gnomAD v4 |
| X | g.30308189C>A | CA2740092079 | NR0B1 | c.1168+7G>T (n.1168+7G>T) c.283+7G>T (n.283+7G>T) | ClinVar |
| X | g.30308190C>A | CA2422040363 | NR0B1 | c.1168+6G>T (n.1168+6G>T) c.283+6G>T (n.283+6G>T) | dbSNP |
| X | g.30308190C= | CA2422040362 | NR0B1 | c.1168+6G= (n.1168+6G=) c.283+6G= (n.283+6G=) | |
| X | g.30308190C>T | CA10376307 | NR0B1 | c.1168+6G>A (n.1168+6G>A) c.283+6G>A (n.283+6G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308191C>T | CA2693383154 | NR0B1 | c.1168+5G>A (n.1168+5G>A) c.283+5G>A (n.283+5G>A) | gnomAD v4 |
| X | g.30308194A>C | CA412546144 | NR0B1 | c.1168+2T>G (n.1168+2T>G) c.283+2T>G (n.283+2T>G) | gnomAD v4 |
| X | g.30308194A>G | CA412546146 | NR0B1 | c.1168+2T>C (n.1168+2T>C) c.283+2T>C (n.283+2T>C) | |
| X | g.30308194A>T | CA412546148 | NR0B1 | c.1168+2T>A (n.1168+2T>A) c.283+2T>A (n.283+2T>A) | |
| X | g.30308194_30308195dup | CA2695232155 | NR0B1 | c.1168+1_1168+2dup (n.1168+1_1168+2dup) c.283+1_283+2dup (n.283+1_283+2dup) | |
| X | g.30308195C>A | CA412546155 | NR0B1 | c.1168+1G>T (n.1168+1G>T) c.283+1G>T (n.283+1G>T) | ClinVar dbSNP gnomAD v4 |
| X | g.30308195C>G | CA412546151 | NR0B1 | c.1168+1G>C (n.1168+1G>C) c.283+1G>C (n.283+1G>C) | |
| X | g.30308195C>T | CA412546153 | NR0B1 | c.1168+1G>A (n.1168+1G>A) c.283+1G>A (n.283+1G>A) | |
| X | g.30308197del | CA2573158600 | NR0B1 | c.1168+1del c.283+1del | ClinVar dbSNP |
| X | g.30308196C>A | CA412546158 | NR0B1 | c.1168G>T (p.Asp390Tyr) c.283G>T (p.Gly95Ter) | |
| X | g.30308196C>G | CA412546160 | NR0B1 | c.1168G>C (p.Asp390His) c.283G>C (p.Gly95Arg) | |
| X | g.30308196C>T | CA412546164 | NR0B1 | c.1168G>A (p.Asp390Asn) c.283G>A (p.Gly95Arg) | |
| X | g.30308197C>A | CA10376308 | NR0B1 | c.1167G>T (p.Pro389=) c.282G>T (p.Pro94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308197C= | CA2422040364 | NR0B1 | c.1167G= (p.Pro389=) c.282G= (p.Pro94=) | |
| X | g.30308197C>G | CA10376309 | NR0B1 | c.1167G>C (p.Pro389=) c.282G>C (p.Pro94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308197C>T | CA515717387 | NR0B1 | c.1167G>A (p.Pro389=) c.282G>A (p.Pro94=) | |
| X | g.30308198G>A | CA412546174 | NR0B1 | c.1166C>T (p.Pro389Leu) c.281C>T (p.Pro94Leu) | dbSNP gnomAD v2 |
| X | g.30308198G>C | CA412546171 | NR0B1 | c.1166C>G (p.Pro389Arg) c.281C>G (p.Pro94Arg) | |
| X | g.30308198G= | CA2422040365 | NR0B1 | c.1166C= (p.Pro389=) c.281C= (p.Pro94=) | |
| X | g.30308198G>T | CA412546172 | NR0B1 | c.1166C>A (p.Pro389Gln) c.281C>A (p.Pro94Gln) | gnomAD v4 |
| X | g.30308199G>A | CA412546177 | NR0B1 | c.1165C>T (p.Pro389Ser) c.280C>T (p.Pro94Ser) | COSMIC |
| X | g.30308199G>C | CA412546179 | NR0B1 | c.1165C>G (p.Pro389Ala) c.280C>G (p.Pro94Ala) | |
| X | g.30308199G>T | CA412546181 | NR0B1 | c.1165C>A (p.Pro389Thr) c.280C>A (p.Pro94Thr) | |
| X | g.30308200G>A | CA515717389 | NR0B1 | c.1164C>T (p.Asn388=) c.279C>T (p.Asn93=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308200G>C | CA412546183 | NR0B1 | c.1164C>G (p.Asn388Lys) c.279C>G (p.Asn93Lys) | |
| X | g.30308200G= | CA2422040366 | NR0B1 | c.1164C= (p.Asn388=) c.279C= (p.Asn93=) | |
| X | g.30308200G>T | CA412546185 | NR0B1 | c.1164C>A (p.Asn388Lys) c.279C>A (p.Asn93Lys) | |
| X | g.30308201T>A | CA412546187 | NR0B1 | c.1163A>T (p.Asn388Ile) c.278A>T (p.Asn93Ile) | |
| X | g.30308201T>C | CA412546189 | NR0B1 | c.1163A>G (p.Asn388Ser) c.278A>G (p.Asn93Ser) | |
| X | g.30308201T>G | CA412546191 | NR0B1 | c.1163A>C (p.Asn388Thr) c.278A>C (p.Asn93Thr) | |
| X | g.30308202dup | CA2695232156 | NR0B1 | c.1163dup (p.Asn388LysfsTer26) c.278dup (p.Asn93LysfsTer9) | |
| X | g.30308202T>A | CA412546195 | NR0B1 | c.1162A>T (p.Asn388Tyr) c.277A>T (p.Asn93Tyr) | |
| X | g.30308202T>C | CA412546197 | NR0B1 | c.1162A>G (p.Asn388Asp) c.277A>G (p.Asn93Asp) | |
| X | g.30308202T>G | CA412546198 | NR0B1 | c.1162A>C (p.Asn388His) c.277A>C (p.Asn93His) | |
| X | g.30308203A= | CA2422040367 | NR0B1 | c.1161T= (p.Phe387=) c.276T= (p.Phe92=) | |
| X | g.30308203A>C | CA412546201 | NR0B1 | c.1161T>G (p.Phe387Leu) c.276T>G (p.Phe92Leu) | |
| X | g.30308203A>G | CA515717390 | NR0B1 | c.1161T>C (p.Phe387=) c.276T>C (p.Phe92=) | ClinVar dbSNP |
| X | g.30308203A>T | CA412546203 | NR0B1 | c.1161T>A (p.Phe387Leu) c.276T>A (p.Phe92Leu) | |
| X | g.30308204A>C | CA412546207 | NR0B1 | c.1160T>G (p.Phe387Cys) c.275T>G (p.Phe92Cys) | |
| X | g.30308204A>G | CA412546211 | NR0B1 | c.1160T>C (p.Phe387Ser) c.275T>C (p.Phe92Ser) | |
| X | g.30308204A>T | CA412546209 | NR0B1 | c.1160T>A (p.Phe387Tyr) c.275T>A (p.Phe92Tyr) | |
| X | g.30308205A>C | CA412546213 | NR0B1 | c.1159T>G (p.Phe387Val) c.274T>G (p.Phe92Val) | |
| X | g.30308205A>G | CA412546215 | NR0B1 | c.1159T>C (p.Phe387Leu) c.274T>C (p.Phe92Leu) | gnomAD v4 |
| X | g.30308205A>T | CA412546217 | NR0B1 | c.1159T>A (p.Phe387Ile) c.274T>A (p.Phe92Ile) | |
| X | g.30308207_30308208del | CA2695232157 | NR0B1 | c.1158_1159del (p.Phe387Ter) c.273_274del (p.Phe92Ter) | |
| X | g.30308206G>A | CA515717391 | NR0B1 | c.1158C>T (p.Leu386=) c.273C>T (p.Leu91=) | |
| X | g.30308206G>C | CA515717392 | NR0B1 | c.1158C>G (p.Leu386=) c.273C>G (p.Leu91=) | gnomAD v4 |
| X | g.30308206G>T | CA515717393 | NR0B1 | c.1158C>A (p.Leu386=) c.273C>A (p.Leu91=) | |
| X | g.30308209_30308223del | CA2695232158 | NR0B1 | c.1144_1158del (p.Lys382_Leu386del) c.259_273del (p.Lys87_Leu91del) | |
| X | g.30308207A>C | CA412546220 | NR0B1 | c.1157T>G (p.Leu386Arg) c.272T>G (p.Leu91Arg) | ClinVar |
| X | g.30308207A>G | CA412546222 | NR0B1 | c.1157T>C (p.Leu386Pro) c.272T>C (p.Leu91Pro) | |
| X | g.30308207A>T | CA412546224 | NR0B1 | c.1157T>A (p.Leu386His) c.272T>A (p.Leu91His) | |
| X | g.30308208G>A | CA412546227 | NR0B1 | c.1156C>T (p.Leu386Phe) c.271C>T (p.Leu91Phe) | |
| X | g.30308208G>C | CA412546229 | NR0B1 | c.1156C>G (p.Leu386Val) c.271C>G (p.Leu91Val) | |
| X | g.30308208G>T | CA412546231 | NR0B1 | c.1156C>A (p.Leu386Ile) c.271C>A (p.Leu91Ile) | |
| X | g.30308209C>A | CA515717395 | NR0B1 | c.1155G>T (p.Val385=) c.270G>T (p.Val90=) | |
| X | g.30308209C>G | CA515717396 | NR0B1 | c.1155G>C (p.Val385=) c.270G>C (p.Val90=) | |
| X | g.30308209C>T | CA515717397 | NR0B1 | c.1155G>A (p.Val385=) c.270G>A (p.Val90=) | gnomAD v4 |
| X | g.30308210A>C | CA412546233 | NR0B1 | c.1154T>G (p.Val385Gly) c.269T>G (p.Val90Gly) | |
| X | g.30308210A>G | CA412546235 | NR0B1 | c.1154T>C (p.Val385Ala) c.269T>C (p.Val90Ala) | |
| X | g.30308210A>T | CA412546238 | NR0B1 | c.1154T>A (p.Val385Glu) c.269T>A (p.Val90Glu) | |
| X | g.30308211C>A | CA412546243 | NR0B1 | c.1153G>T (p.Val385Leu) c.268G>T (p.Val90Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308211C= | CA2422040368 | NR0B1 | c.1153G= (p.Val385=) c.268G= (p.Val90=) | |
| X | g.30308211C>G | CA412546239 | NR0B1 | c.1153G>C (p.Val385Leu) c.268G>C (p.Val90Leu) | |
| X | g.30308211C>T | CA412546241 | NR0B1 | c.1153G>A (p.Val385Met) c.268G>A (p.Val90Met) | gnomAD v4 |
| X | g.30308212G>A | CA515717398 | NR0B1 | c.1152C>T (p.Thr384=) c.267C>T (p.Thr89=) | gnomAD v4 |
| X | g.30308212G>C | CA515717399 | NR0B1 | c.1152C>G (p.Thr384=) c.267C>G (p.Thr89=) | |
| X | g.30308212G= | CA2422040369 | NR0B1 | c.1152C= (p.Thr384=) c.267C= (p.Thr89=) | |
| X | g.30308212G>T | CA515717400 | NR0B1 | c.1152C>A (p.Thr384=) c.267C>A (p.Thr89=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308213G>A | CA10376310 | NR0B1 | c.1151C>T (p.Thr384Ile) c.266C>T (p.Thr89Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308213G>C | CA412546247 | NR0B1 | c.1151C>G (p.Thr384Ser) c.266C>G (p.Thr89Ser) | |
| X | g.30308213G= | CA2422040370 | NR0B1 | c.1151C= (p.Thr384=) c.266C= (p.Thr89=) | |
| X | g.30308213G>T | CA412546249 | NR0B1 | c.1151C>A (p.Thr384Asn) c.266C>A (p.Thr89Asn) | |
| X | g.30308214T>A | CA412546252 | NR0B1 | c.1150A>T (p.Thr384Ser) c.265A>T (p.Thr89Ser) | |
| X | g.30308214T>C | CA412546253 | NR0B1 | c.1150A>G (p.Thr384Ala) c.265A>G (p.Thr89Ala) | |
| X | g.30308214T>G | CA412546256 | NR0B1 | c.1150A>C (p.Thr384Pro) c.265A>C (p.Thr89Pro) | |
| X | g.30308215C>A | CA515717403 | NR0B1 | c.1149G>T (p.Gly383=) c.264G>T (p.Gly88=) | COSMIC COSMIC |
| X | g.30308215C>G | CA515717401 | NR0B1 | c.1149G>C (p.Gly383=) c.264G>C (p.Gly88=) | |
| X | g.30308215C>T | CA515717402 | NR0B1 | c.1149G>A (p.Gly383=) c.264G>A (p.Gly88=) | |
| X | g.30308217_30308218del | CA2695232159 | NR0B1 | c.1148_1149del (p.Gly383AspfsTer5) c.263_264del (p.Gly88AspfsTer5) | |
| X | g.30308216C>A | CA412546258 | NR0B1 | c.1148G>T (p.Gly383Val) c.263G>T (p.Gly88Val) | |
| X | g.30308216C>G | CA412546261 | NR0B1 | c.1148G>C (p.Gly383Ala) c.263G>C (p.Gly88Ala) | |
| X | g.30308216C>T | CA412546263 | NR0B1 | c.1148G>A (p.Gly383Glu) c.263G>A (p.Gly88Glu) | |
| X | g.30308217C>A | CA412546265 | NR0B1 | c.1147G>T (p.Gly383Trp) c.262G>T (p.Gly88Trp) | |
| X | g.30308217C>G | CA412546267 | NR0B1 | c.1147G>C (p.Gly383Arg) c.262G>C (p.Gly88Arg) | |
| X | g.30308217C>T | CA412546269 | NR0B1 | c.1147G>A (p.Gly383Arg) c.262G>A (p.Gly88Arg) | |
| X | g.30308218C>A | CA255633 | NR0B1 | c.1146G>T (p.Lys382Asn) c.261G>T (p.Lys87Asn) | ClinVar dbSNP |
| X | g.30308218C= | CA2422040371 | NR0B1 | c.1146G= (p.Lys382=) c.261G= (p.Lys87=) | |
| X | g.30308218C>G | CA412546273 | NR0B1 | c.1146G>C (p.Lys382Asn) c.261G>C (p.Lys87Asn) | |
| X | g.30308218C>T | CA515717404 | NR0B1 | c.1146G>A (p.Lys382=) c.261G>A (p.Lys87=) | |
| X | g.30308219T>A | CA412546276 | NR0B1 | c.1145A>T (p.Lys382Met) c.260A>T (p.Lys87Met) | |
| X | g.30308219T>C | CA412546280 | NR0B1 | c.1145A>G (p.Lys382Arg) c.260A>G (p.Lys87Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308219T>G | CA412546278 | NR0B1 | c.1145A>C (p.Lys382Thr) c.260A>C (p.Lys87Thr) | |
| X | g.30308219T= | CA2422040372 | NR0B1 | c.1145A= (p.Lys382=) c.260A= (p.Lys87=) | |
| X | g.30308220T>A | CA412546283 | NR0B1 | c.1144A>T (p.Lys382Ter) c.259A>T (p.Lys87Ter) | |
| X | g.30308220T>C | CA412546287 | NR0B1 | c.1144A>G (p.Lys382Glu) c.259A>G (p.Lys87Glu) | |
| X | g.30308220T>G | CA412546285 | NR0B1 | c.1144A>C (p.Lys382Gln) c.259A>C (p.Lys87Gln) | gnomAD v4 |
| X | g.30308221G>A | CA515717406 | NR0B1 | c.1143C>T (p.Leu381=) c.258C>T (p.Leu86=) | |
| X | g.30308221G>C | CA515717405 | NR0B1 | c.1143C>G (p.Leu381=) c.258C>G (p.Leu86=) | |
| X | g.30308221G>T | CA515717407 | NR0B1 | c.1143C>A (p.Leu381=) c.258C>A (p.Leu86=) | COSMIC COSMIC |
| X | g.30308222A= | CA2422040373 | NR0B1 | c.1142T= (p.Leu381=) c.257T= (p.Leu86=) | |
| X | g.30308222A>C | CA412546290 | NR0B1 | c.1142T>G (p.Leu381Arg) c.257T>G (p.Leu86Arg) | |
| X | g.30308222A>G | CA412546292 | NR0B1 | c.1142T>C (p.Leu381Pro) c.257T>C (p.Leu86Pro) | ClinVar dbSNP |
| X | g.30308222A>T | CA255638 | NR0B1 | c.1142T>A (p.Leu381His) c.257T>A (p.Leu86His) | ClinVar dbSNP |
| X | g.30308223G>A | CA260499 | NR0B1 | c.1141C>T (p.Leu381Phe) c.256C>T (p.Leu86Phe) | ClinVar dbSNP |
| X | g.30308223G>C | CA412546296 | NR0B1 | c.1141C>G (p.Leu381Val) c.256C>G (p.Leu86Val) | |
| X | g.30308223G= | CA2422040374 | NR0B1 | c.1141C= (p.Leu381=) c.256C= (p.Leu86=) | |
| X | g.30308223G>T | CA412546298 | NR0B1 | c.1141C>A (p.Leu381Ile) c.256C>A (p.Leu86Ile) | |
| X | g.30308224G>A | CA515717408 | NR0B1 | c.1140C>T (p.Tyr380=) c.255C>T (p.Tyr85=) | dbSNP COSMIC COSMIC |
| X | g.30308224G>C | CA412546301 | NR0B1 | c.1140C>G (p.Tyr380Ter) c.255C>G (p.Tyr85Ter) | |
| X | g.30308224G= | CA2422040375 | NR0B1 | c.1140C= (p.Tyr380=) c.255C= (p.Tyr85=) | |
| X | g.30308224G>T | CA412546302 | NR0B1 | c.1140C>A (p.Tyr380Ter) c.255C>A (p.Tyr85Ter) | |
| X | g.30308225T>A | CA412546306 | NR0B1 | c.1139A>T (p.Tyr380Phe) c.254A>T (p.Tyr85Phe) | |
| X | g.30308225T>C | CA412546307 | NR0B1 | c.1139A>G (p.Tyr380Cys) c.254A>G (p.Tyr85Cys) | dbSNP gnomAD v2 |
| X | g.30308225T>G | CA412546310 | NR0B1 | c.1139A>C (p.Tyr380Ser) c.254A>C (p.Tyr85Ser) | |
| X | g.30308225T= | CA2422040376 | NR0B1 | c.1139A= (p.Tyr380=) c.254A= (p.Tyr85=) | |
| X | g.30308226A= | CA2422040377 | NR0B1 | c.1138T= (p.Tyr380=) c.253T= (p.Tyr85=) | |
| X | g.30308226A>C | CA255639 | NR0B1 | c.1138T>G (p.Tyr380Asp) c.253T>G (p.Tyr85Asp) | ClinVar dbSNP |
| X | g.30308226A>G | CA412546313 | NR0B1 | c.1138T>C (p.Tyr380His) c.253T>C (p.Tyr85His) | |
| X | g.30308226A>T | CA412546312 | NR0B1 | c.1138T>A (p.Tyr380Asn) c.253T>A (p.Tyr85Asn) | |
| X | g.30308226_30308227insT | CA2695232160 | NR0B1 | c.1137_1138insA (p.Tyr380IlefsTer9) c.252_253insA (p.Tyr85IlefsTer9) | |
| X | g.30308227G>A | CA515717409 | NR0B1 | c.1137C>T (p.Ala379=) c.252C>T (p.Ala84=) | gnomAD v4 |
| X | g.30308227G>C | CA515717410 | NR0B1 | c.1137C>G (p.Ala379=) c.252C>G (p.Ala84=) | |
| X | g.30308227G>T | CA515717411 | NR0B1 | c.1137C>A (p.Ala379=) c.252C>A (p.Ala84=) | |
| X | g.30308228G>A | CA412546316 | NR0B1 | c.1136C>T (p.Ala379Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308228G>C | CA412546319 | NR0B1 | c.1136C>G (p.Ala379Gly) c.251C>G (p.Ala84Gly) | |
| X | g.30308228G>T | CA412546321 | NR0B1 | c.1136C>A (p.Ala379Asp) c.251C>A (p.Ala84Asp) | COSMIC COSMIC |
| X | g.30308229C>A | CA412546323 | NR0B1 | c.1135G>T (p.Ala379Ser) c.250G>T (p.Ala84Ser) | |
| X | g.30308229C>G | CA412546326 | NR0B1 | c.1135G>C (p.Ala379Pro) c.250G>C (p.Ala84Pro) | |
| X | g.30308229C>T | CA412546328 | NR0B1 | c.1135G>A (p.Ala379Thr) c.250G>A (p.Ala84Thr) | COSMIC COSMIC |
| X | g.30308230G>A | CA515717412 | NR0B1 | c.1134C>T (p.Tyr378=) c.249C>T (p.Tyr83=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308230G>C | CA412546329 | NR0B1 | c.1134C>G (p.Tyr378Ter) c.249C>G (p.Tyr83Ter) | |
| X | g.30308230G= | CA2422040378 | NR0B1 | c.1134C= (p.Tyr378=) c.249C= (p.Tyr83=) | |
| X | g.30308230G>T | CA412546331 | NR0B1 | c.1134C>A (p.Tyr378Ter) c.249C>A (p.Tyr83Ter) |