UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43068026C>A | CA392080646 | UBR1 | c.670G>T (p.Glu224Ter) c.*202+2873G>T (n.*202+2873G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068026C= | CA2173020192 | UBR1 | c.670G= (p.Glu224=) c.*202+2873G= (n.*202+2873G=) | |
| 15 | g.43068026C>G | CA392080648 | UBR1 | c.670G>C (p.Glu224Gln) c.*202+2873G>C (n.*202+2873G>C) | |
| 15 | g.43068026C>T | CA392080650 | UBR1 | c.670G>A (p.Glu224Lys) c.*202+2873G>A (n.*202+2873G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068027A>C | CA392080651 | UBR1 | c.669T>G (p.Asn223Lys) c.*202+2872T>G (n.*202+2872T>G) | |
| 15 | g.43068027A>G | CA490121072 | UBR1 | c.669T>C (p.Asn223=) c.*202+2872T>C (n.*202+2872T>C) | |
| 15 | g.43068027A>T | CA392080652 | UBR1 | c.669T>A (p.Asn223Lys) c.*202+2872T>A (n.*202+2872T>A) | |
| 15 | g.43068028T>A | CA392080660 | UBR1 | c.668A>T (p.Asn223Ile) c.*202+2871A>T (n.*202+2871A>T) | |
| 15 | g.43068028T>C | CA392080658 | UBR1 | c.668A>G (p.Asn223Ser) c.*202+2871A>G (n.*202+2871A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068028T>G | CA392080656 | UBR1 | c.668A>C (p.Asn223Thr) c.*202+2871A>C (n.*202+2871A>C) | |
| 15 | g.43068028T= | CA2173020193 | UBR1 | c.668A= (p.Asn223=) c.*202+2871A= (n.*202+2871A=) | |
| 15 | g.43068029T>A | CA392080662 | UBR1 | c.667A>T (p.Asn223Tyr) c.*202+2870A>T (n.*202+2870A>T) | |
| 15 | g.43068029T>C | CA392080664 | UBR1 | c.667A>G (p.Asn223Asp) c.*202+2870A>G (n.*202+2870A>G) | |
| 15 | g.43068029T>G | CA392080666 | UBR1 | c.667A>C (p.Asn223His) c.*202+2870A>C (n.*202+2870A>C) | |
| 15 | g.43068030T>A | CA392080668 | UBR1 | c.666A>T (p.Lys222Asn) c.*202+2869A>T (n.*202+2869A>T) | |
| 15 | g.43068030T>C | CA490121073 | UBR1 | c.666A>G (p.Lys222=) c.*202+2869A>G (n.*202+2869A>G) | gnomAD v4 |
| 15 | g.43068030T>G | CA392080669 | UBR1 | c.666A>C (p.Lys222Asn) c.*202+2869A>C (n.*202+2869A>C) | |
| 15 | g.43068031T>A | CA392080671 | UBR1 | c.665A>T (p.Lys222Ile) c.*202+2868A>T (n.*202+2868A>T) | gnomAD v4 |
| 15 | g.43068031T>C | CA392080673 | UBR1 | c.665A>G (p.Lys222Arg) c.*202+2868A>G (n.*202+2868A>G) | |
| 15 | g.43068031T>G | CA392080675 | UBR1 | c.665A>C (p.Lys222Thr) c.*202+2868A>C (n.*202+2868A>C) | |
| 15 | g.43068032T>A | CA392080677 | UBR1 | c.664A>T (p.Lys222Ter) c.*202+2867A>T (n.*202+2867A>T) | |
| 15 | g.43068032T>C | CA392080678 | UBR1 | c.664A>G (p.Lys222Glu) c.*202+2867A>G (n.*202+2867A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068032T>G | CA392080679 | UBR1 | c.664A>C (p.Lys222Gln) c.*202+2867A>C (n.*202+2867A>C) | |
| 15 | g.43068032T= | CA2173020194 | UBR1 | c.664A= (p.Lys222=) c.*202+2867A= (n.*202+2867A=) | |
| 15 | g.43068033C>A | CA392080683 | UBR1 | c.663G>T (p.Glu221Asp) c.*202+2866G>T (n.*202+2866G>T) | gnomAD v4 |
| 15 | g.43068033C>G | CA392080684 | UBR1 | c.663G>C (p.Glu221Asp) c.*202+2866G>C (n.*202+2866G>C) | |
| 15 | g.43068033C>T | CA490121074 | UBR1 | c.663G>A (p.Glu221=) c.*202+2866G>A (n.*202+2866G>A) | ClinVar gnomAD v4 |
| 15 | g.43068033_43068040delinsCTCCCTGT | CA2173020195 | UBR1 | c.660-4_663delinsACAGGGAG c.*202+2859_*202+2866delinsACAGGGAG (n.*202+2859_*202+2866delinsACAGGGAG) | |
| 15 | g.43068034T>A | CA392080694 | UBR1 | c.662A>T (p.Glu221Val) c.*202+2865A>T (n.*202+2865A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068034T>C | CA392080691 | UBR1 | c.662A>G (p.Glu221Gly) c.*202+2865A>G (n.*202+2865A>G) | |
| 15 | g.43068034T>G | CA392080690 | UBR1 | c.662A>C (p.Glu221Ala) c.*202+2865A>C (n.*202+2865A>C) | |
| 15 | g.43068034T= | CA2173020196 | UBR1 | c.662A= (p.Glu221=) c.*202+2865A= (n.*202+2865A=) | |
| 15 | g.43068034_43068041del | CA2628093612 | UBR1 | c.660-5_662del c.*202+2858_*202+2865del (n.*202+2858_*202+2865del) | gnomAD v4 |
| 15 | g.43068035_43068041del | CA617634726 | UBR1 | c.660-4_662del c.*202+2859_*202+2865del (n.*202+2859_*202+2865del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068035C>A | CA392080699 | UBR1 | c.661G>T (p.Glu221Ter) c.*202+2864G>T (n.*202+2864G>T) | gnomAD v4 |
| 15 | g.43068035C>G | CA392080696 | UBR1 | c.661G>C (p.Glu221Gln) c.*202+2864G>C (n.*202+2864G>C) | |
| 15 | g.43068035C>T | CA392080697 | UBR1 | c.661G>A (p.Glu221Lys) c.*202+2864G>A (n.*202+2864G>A) | |
| 15 | g.43068036C>A | CA392080702 | UBR1 | c.660G>T (p.Arg220Ser) c.*202+2863G>T (n.*202+2863G>T) | gnomAD v4 |
| 15 | g.43068036C>G | CA392080703 | UBR1 | c.660G>C (p.Arg220Ser) c.*202+2863G>C (n.*202+2863G>C) | |
| 15 | g.43068036C>T | CA490121075 | UBR1 | c.660G>A (p.Arg220=) c.*202+2863G>A (n.*202+2863G>A) | gnomAD v4 |
| 15 | g.43068036_43068039del | CA2803932014 | UBR1 | c.660-3_660del c.*202+2860_*202+2863del (n.*202+2860_*202+2863del) | |
| 15 | g.43068036_43068041del | CA2628093613 | UBR1 | c.660-5_660del c.*202+2858_*202+2863del (n.*202+2858_*202+2863del) | gnomAD v4 |
| 15 | g.43068037C>A | CA392080706 | UBR1 | c.660-1G>T (n.660-1G>T) c.*202+2862G>T (n.*202+2862G>T) | gnomAD v4 |
| 15 | g.43068037C>G | CA392080707 | UBR1 | c.660-1G>C (n.660-1G>C) c.*202+2862G>C (n.*202+2862G>C) | |
| 15 | g.43068037C>T | CA392080709 | UBR1 | c.660-1G>A (n.660-1G>A) c.*202+2862G>A (n.*202+2862G>A) | gnomAD v4 |
| 15 | g.43068037_43068038del | CA2695220042 | UBR1 | c.660-2_660-1del (n.660-2_660-1del) c.*202+2861_*202+2862del (n.*202+2861_*202+2862del) | |
| 15 | g.43068037_43068041del | CA2803932015 | UBR1 | c.660-5_660-1del (n.660-5_660-1del) c.*202+2858_*202+2862del (n.*202+2858_*202+2862del) | |
| 15 | g.43068038T>A | CA392080712 | UBR1 | c.660-2A>T (n.660-2A>T) c.*202+2861A>T (n.*202+2861A>T) | gnomAD v4 |
| 15 | g.43068038T>C | CA7518946 | UBR1 | c.660-2A>G (n.660-2A>G) c.*202+2861A>G (n.*202+2861A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43068038T>G | CA392080715 | UBR1 | c.660-2A>C (n.660-2A>C) c.*202+2861A>C (n.*202+2861A>C) | |
| 15 | g.43068038T= | CA2173020197 | UBR1 | c.660-2A= (n.660-2A=) c.*202+2861A= (n.*202+2861A=) | |
| 15 | g.43068038_43068044del | CA2521477615 | UBR1 | c.660-8_660-2del (n.660-8_660-2del) c.*202+2855_*202+2861del (n.*202+2855_*202+2861del) | |
| 15 | g.43068039G>A | CA2628093614 | UBR1 | c.660-3C>T (n.660-3C>T) c.*202+2860C>T (n.*202+2860C>T) | gnomAD v4 |
| 15 | g.43068039G>T | CA969161028 | UBR1 | c.660-3C>A (n.660-3C>A) c.*202+2860C>A (n.*202+2860C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068040T>A | CA2628093616 | UBR1 | c.660-4A>T (n.660-4A>T) c.*202+2859A>T (n.*202+2859A>T) | gnomAD v4 |
| 15 | g.43068040T>G | CA2628093617 | UBR1 | c.660-4A>C (n.660-4A>C) c.*202+2859A>C (n.*202+2859A>C) | gnomAD v4 |
| 15 | g.43068041del | CA2628093615 | UBR1 | c.660-4del (n.660-4del) c.*202+2859del (n.*202+2859del) | gnomAD v4 |
| 15 | g.43068041T>A | CA969161030 | UBR1 | c.660-5A>T (n.660-5A>T) c.*202+2858A>T (n.*202+2858A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068041T>G | CA2628093618 | UBR1 | c.660-5A>C (n.660-5A>C) c.*202+2858A>C (n.*202+2858A>C) | gnomAD v4 |
| 15 | g.43068041T= | CA2173020198 | UBR1 | c.660-5A= (n.660-5A=) c.*202+2858A= (n.*202+2858A=) | |
| 15 | g.43068042_43068043insAAAAAAA | CA617634727 | UBR1 | c.660-6_660-5insTTTTTTT (n.660-6_660-5insTTTTTTT) c.*202+2857_*202+2858insTTTTTTT (n.*202+2857_*202+2858insTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068042_43068043insAAAAAAAAA | CA2628093620 | UBR1 | c.660-6_660-5insTTTTTTTTT (n.660-6_660-5insTTTTTTTTT) c.*202+2857_*202+2858insTTTTTTTTT (n.*202+2857_*202+2858insTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068042dup | CA2628093619 | UBR1 | c.660-6dup (n.660-6dup) c.*202+2857dup (n.*202+2857dup) | gnomAD v4 |
| 15 | g.43068042_43068043delinsAG | CA2173020199 | UBR1 | c.660-7_660-6delinsCT (n.660-7_660-6delinsCT) c.*202+2856_*202+2857delinsCT (n.*202+2856_*202+2857delinsCT) | |
| 15 | g.43068042_43068051del | CA969161034 | UBR1 | c.660-15_660-6del (n.660-15_660-6del) c.*202+2848_*202+2857del (n.*202+2848_*202+2857del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068043del | CA919541647 | UBR1 | c.660-7del (n.660-7del) c.*202+2856del (n.*202+2856del) | ClinVar dbSNP gnomAD v4 |
| 15 | g.43068043G>A | CA617634728 | UBR1 | c.660-7C>T (n.660-7C>T) c.*202+2856C>T (n.*202+2856C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068043G= | CA2173020201 | UBR1 | c.660-7C= (n.660-7C=) c.*202+2856C= (n.*202+2856C=) | |
| 15 | g.43068043G>T | CA969161073 | UBR1 | c.660-7C>A (n.660-7C>A) c.*202+2856C>A (n.*202+2856C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068043_43068044delinsGA | CA2173020200 | UBR1 | c.660-8_660-7delinsTC (n.660-8_660-7delinsTC) c.*202+2855_*202+2856delinsTC (n.*202+2855_*202+2856delinsTC) | |
| 15 | g.43068044A>G | CA2628093621 | UBR1 | c.660-8T>C (n.660-8T>C) c.*202+2855T>C (n.*202+2855T>C) | gnomAD v4 |
| 15 | g.43068051dup | CA7518947 | UBR1 | c.660-8dup (n.660-8dup) c.*202+2855dup (n.*202+2855dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.43068050_43068051dup | CA2628093622 | UBR1 | c.660-9_660-8dup (n.660-9_660-8dup) c.*202+2854_*202+2855dup (n.*202+2854_*202+2855dup) | gnomAD v4 |
| 15 | g.43068048_43068051dup | CA2803932016 | UBR1 | c.660-11_660-8dup (n.660-11_660-8dup) c.*202+2852_*202+2855dup (n.*202+2852_*202+2855dup) | |
| 15 | g.43068051del | CA617634729 | UBR1 | c.660-8del (n.660-8del) c.*202+2855del (n.*202+2855del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068044_43068045insT | CA490121076 | UBR1 | c.660-9_660-8insA (n.660-9_660-8insA) c.*202+2854_*202+2855insA (n.*202+2854_*202+2855insA) | |
| 15 | g.43068046A>G | CA2628093623 | UBR1 | c.660-10T>C (n.660-10T>C) c.*202+2853T>C (n.*202+2853T>C) | gnomAD v4 |
| 15 | g.43068047A>G | CA2628093624 | UBR1 | c.660-11T>C (n.660-11T>C) c.*202+2852T>C (n.*202+2852T>C) | gnomAD v4 |
| 15 | g.43068049_43068089delinsAAACATATATATTTGGATACTACAACAAATAAAGGAAAAGT | CA2173020202 | UBR1 | c.660-53_660-13delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGTTT (n.660-53_660-13delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGTTT) c.*202+2810_*202+2850delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGTTT (n.*202+2810_*202+2850delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGTTT) | |
| 15 | g.43068050A= | CA2173020203 | UBR1 | c.660-14T= (n.660-14T=) c.*202+2849T= (n.*202+2849T=) | |
| 15 | g.43068050A>C | CA969161085 | UBR1 | c.660-14T>G (n.660-14T>G) c.*202+2849T>G (n.*202+2849T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068050A>G | CA7518949 | UBR1 | c.660-14T>C (n.660-14T>C) c.*202+2849T>C (n.*202+2849T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068052_43068091del | CA7518948 | UBR1 | c.660-53_660-14del (n.660-53_660-14del) c.*202+2810_*202+2849del (n.*202+2810_*202+2849del) | dbSNP ExAC |
| 15 | g.43068050_43068051insCCACCAAACACACCCAAC | CA2803932017 | UBR1 | c.660-15_660-14insGTTGGGTGTGTTTGGTGG (n.660-15_660-14insGTTGGGTGTGTTTGGTGG) c.*202+2848_*202+2849insGTTGGGTGTGTTTGGTGG (n.*202+2848_*202+2849insGTTGGGTGTGTTTGGTGG) | |
| 15 | g.43068051A>C | CA2628093625 | UBR1 | c.660-15T>G (n.660-15T>G) c.*202+2848T>G (n.*202+2848T>G) | gnomAD v4 |
| 15 | g.43068051A>T | CA2628093626 | UBR1 | c.660-15T>A (n.660-15T>A) c.*202+2848T>A (n.*202+2848T>A) | gnomAD v4 |
| 15 | g.43068051_43068052delinsAC | CA2173020205 | UBR1 | c.660-16_660-15delinsGT (n.660-16_660-15delinsGT) c.*202+2847_*202+2848delinsGT (n.*202+2847_*202+2848delinsGT) | |
| 15 | g.43068051_43068089delinsACATATATATTTGGATACTACAACAAATAAAGGAAAAGT | CA2173020204 | UBR1 | c.660-53_660-15delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGT (n.660-53_660-15delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGT) c.*202+2810_*202+2848delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGT (n.*202+2810_*202+2848delinsACTTTTCCTTTATTTGTTGTAGTATCCAAATATATATGT) | |
| 15 | g.43068052del | CA7518951 | UBR1 | c.660-16del (n.660-16del) c.*202+2847del (n.*202+2847del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068052C>A | CA712969689 | UBR1 | c.660-16G>T (n.660-16G>T) c.*202+2847G>T (n.*202+2847G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068052C= | CA2173020207 | UBR1 | c.660-16G= (n.660-16G=) c.*202+2847G= (n.*202+2847G=) | |
| 15 | g.43068052dup | CA2628093627 | UBR1 | c.660-16dup (n.660-16dup) c.*202+2847dup (n.*202+2847dup) | gnomAD v4 |
| 15 | g.43068052_43068054delinsCAT | CA2173020206 | UBR1 | c.660-18_660-16delinsATG (n.660-18_660-16delinsATG) c.*202+2845_*202+2847delinsATG (n.*202+2845_*202+2847delinsATG) | |
| 15 | g.43068052_43068089del | CA7518950 | UBR1 | c.660-53_660-16del (n.660-53_660-16del) c.*202+2810_*202+2847del (n.*202+2810_*202+2847del) | dbSNP ExAC |
| 15 | g.43068053del | CA392080720 | UBR1 | c.660-17del (n.660-17del) c.*202+2846del (n.*202+2846del) | |
| 15 | g.43068053A= | CA2173020209 | UBR1 | c.660-17T= (n.660-17T=) c.*202+2846T= (n.*202+2846T=) | |
| 15 | g.43068053A>G | CA617634731 | UBR1 | c.660-17T>C (n.660-17T>C) c.*202+2846T>C (n.*202+2846T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068053A>T | CA969161104 | UBR1 | c.660-17T>A (n.660-17T>A) c.*202+2846T>A (n.*202+2846T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068059_43068060dup | CA2173020208 | UBR1 | c.660-18_660-17dup (n.660-18_660-17dup) c.*202+2845_*202+2846dup (n.*202+2845_*202+2846dup) | dbSNP gnomAD v4 |
| 15 | g.43068059_43068060del | CA617634730 | UBR1 | c.660-18_660-17del (n.660-18_660-17del) c.*202+2845_*202+2846del (n.*202+2845_*202+2846del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068054T>A | CA7518952 | UBR1 | c.660-18A>T (n.660-18A>T) c.*202+2845A>T (n.*202+2845A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068054T>C | CA2628093628 | UBR1 | c.660-18A>G (n.660-18A>G) c.*202+2845A>G (n.*202+2845A>G) | gnomAD v4 |
| 15 | g.43068054T= | CA2173020210 | UBR1 | c.660-18A= (n.660-18A=) c.*202+2845A= (n.*202+2845A=) | |
| 15 | g.43068055A>T | CA969161112 | UBR1 | c.660-19T>A (n.660-19T>A) c.*202+2844T>A (n.*202+2844T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068056T>A | CA269943743 | UBR1 | c.660-20A>T (n.660-20A>T) c.*202+2843A>T (n.*202+2843A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068056T>C | CA2628093629 | UBR1 | c.660-20A>G (n.660-20A>G) c.*202+2843A>G (n.*202+2843A>G) | gnomAD v4 |
| 15 | g.43068056T>G | CA2628093630 | UBR1 | c.660-20A>C (n.660-20A>C) c.*202+2843A>C (n.*202+2843A>C) | gnomAD v4 |
| 15 | g.43068056T= | CA2173020211 | UBR1 | c.660-20A= (n.660-20A=) c.*202+2843A= (n.*202+2843A=) | |
| 15 | g.43068057A= | CA2173020212 | UBR1 | c.660-21T= (n.660-21T=) c.*202+2842T= (n.*202+2842T=) | |
| 15 | g.43068057A>C | CA2628093631 | UBR1 | c.660-21T>G (n.660-21T>G) c.*202+2842T>G (n.*202+2842T>G) | gnomAD v4 |
| 15 | g.43068057A>G | CA2173020213 | UBR1 | c.660-21T>C (n.660-21T>C) c.*202+2842T>C (n.*202+2842T>C) | dbSNP gnomAD v4 |
| 15 | g.43068057A>T | CA969161114 | UBR1 | c.660-21T>A (n.660-21T>A) c.*202+2842T>A (n.*202+2842T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068058T>A | CA269943746 | UBR1 | c.660-22A>T (n.660-22A>T) c.*202+2841A>T (n.*202+2841A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068058T= | CA2173020214 | UBR1 | c.660-22A= (n.660-22A=) c.*202+2841A= (n.*202+2841A=) | |
| 15 | g.43068059A= | CA2173020215 | UBR1 | c.660-23T= (n.660-23T=) c.*202+2840T= (n.*202+2840T=) | |
| 15 | g.43068059A>G | CA969161118 | UBR1 | c.660-23T>C (n.660-23T>C) c.*202+2840T>C (n.*202+2840T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068059A>T | CA969161119 | UBR1 | c.660-23T>A (n.660-23T>A) c.*202+2840T>A (n.*202+2840T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068060T>A | CA2741424359 | UBR1 | c.660-24A>T (n.660-24A>T) c.*202+2839A>T (n.*202+2839A>T) | |
| 15 | g.43068061T>A | CA617634732 | UBR1 | c.660-25A>T (n.660-25A>T) c.*202+2838A>T (n.*202+2838A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068061T= | CA2173020216 | UBR1 | c.660-25A= (n.660-25A=) c.*202+2838A= (n.*202+2838A=) | |
| 15 | g.43068062T>A | CA969161132 | UBR1 | c.660-26A>T (n.660-26A>T) c.*202+2837A>T (n.*202+2837A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068063G>A | CA7518953 | UBR1 | c.660-27C>T (n.660-27C>T) c.*202+2836C>T (n.*202+2836C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068063G= | CA2173020217 | UBR1 | c.660-27C= (n.660-27C=) c.*202+2836C= (n.*202+2836C=) | |
| 15 | g.43068063G>T | CA617634733 | UBR1 | c.660-27C>A (n.660-27C>A) c.*202+2836C>A (n.*202+2836C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068063_43068064del | CA969161140 | UBR1 | c.660-28_660-27del (n.660-28_660-27del) c.*202+2835_*202+2836del (n.*202+2835_*202+2836del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068063_43068065del | CA969161142 | UBR1 | c.660-29_660-27del (n.660-29_660-27del) c.*202+2834_*202+2836del (n.*202+2834_*202+2836del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068063_43068076del | CA969161143 | UBR1 | c.660-40_660-27del (n.660-40_660-27del) c.*202+2823_*202+2836del (n.*202+2823_*202+2836del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068063_43068064insTT | CA2628093634 | UBR1 | c.660-28_660-27insAA (n.660-28_660-27insAA) c.*202+2835_*202+2836insAA (n.*202+2835_*202+2836insAA) | gnomAD v4 |
| 15 | g.43068064G>A | CA2628093632 | UBR1 | c.660-28C>T (n.660-28C>T) c.*202+2835C>T (n.*202+2835C>T) | gnomAD v4 |
| 15 | g.43068064G>C | CA2628093633 | UBR1 | c.660-28C>G (n.660-28C>G) c.*202+2835C>G (n.*202+2835C>G) | gnomAD v4 |
| 15 | g.43068064G>T | CA969161151 | UBR1 | c.660-28C>A (n.660-28C>A) c.*202+2835C>A (n.*202+2835C>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068064_43068065insTAGTATCCAA | CA2628093635 | UBR1 | c.660-29_660-28insTTGGATACTA (n.660-29_660-28insTTGGATACTA) c.*202+2834_*202+2835insTTGGATACTA (n.*202+2834_*202+2835insTTGGATACTA) | gnomAD v4 |
| 15 | g.43068064_43068065insTAGTATCCAAAT | CA2628093636 | UBR1 | c.660-29_660-28insATTTGGATACTA (n.660-29_660-28insATTTGGATACTA) c.*202+2834_*202+2835insATTTGGATACTA (n.*202+2834_*202+2835insATTTGGATACTA) | gnomAD v4 |
| 15 | g.43068064_43068065insTAGTATCCAAATAT | CA2628093637 | UBR1 | c.660-29_660-28insATATTTGGATACTA (n.660-29_660-28insATATTTGGATACTA) c.*202+2834_*202+2835insATATTTGGATACTA (n.*202+2834_*202+2835insATATTTGGATACTA) | gnomAD v4 |
| 15 | g.43068065A= | CA2173020218 | UBR1 | c.660-29T= (n.660-29T=) c.*202+2834T= (n.*202+2834T=) | |
| 15 | g.43068065A>C | CA7518954 | UBR1 | c.660-29T>G (n.660-29T>G) c.*202+2834T>G (n.*202+2834T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068065A>G | CA2628093638 | UBR1 | c.660-29T>C (n.660-29T>C) c.*202+2834T>C (n.*202+2834T>C) | gnomAD v4 |
| 15 | g.43068065A>T | CA969161158 | UBR1 | c.660-29T>A (n.660-29T>A) c.*202+2834T>A (n.*202+2834T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068066T>A | CA969161161 | UBR1 | c.660-30A>T (n.660-30A>T) c.*202+2833A>T (n.*202+2833A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068066T>C | CA2575700205 | UBR1 | c.660-30A>G (n.660-30A>G) c.*202+2833A>G (n.*202+2833A>G) | |
| 15 | g.43068066T>G | CA969161163 | UBR1 | c.660-30A>C (n.660-30A>C) c.*202+2833A>C (n.*202+2833A>C) | gnomAD v3 gnomAD v4 |
| 15 | g.43068066T= | CA2173020219 | UBR1 | c.660-30A= (n.660-30A=) c.*202+2833A= (n.*202+2833A=) | |
| 15 | g.43068069_43068071dup | CA2575700204 | UBR1 | c.660-32_660-30dup (n.660-32_660-30dup) c.*202+2831_*202+2833dup (n.*202+2831_*202+2833dup) | |
| 15 | g.43068069_43068071del | CA2628093639 | UBR1 | c.660-32_660-30del (n.660-32_660-30del) c.*202+2831_*202+2833del (n.*202+2831_*202+2833del) | gnomAD v4 |
| 15 | g.43068067A>G | CA2628093640 | UBR1 | c.660-31T>C (n.660-31T>C) c.*202+2832T>C (n.*202+2832T>C) | gnomAD v4 |
| 15 | g.43068067A>T | CA969161168 | UBR1 | c.660-31T>A (n.660-31T>A) c.*202+2832T>A (n.*202+2832T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068067_43068068delinsAC | CA2173020220 | UBR1 | c.660-32_660-31delinsGT (n.660-32_660-31delinsGT) c.*202+2831_*202+2832delinsGT (n.*202+2831_*202+2832delinsGT) | |
| 15 | g.43068068del | CA712969708 | UBR1 | c.660-32del (n.660-32del) c.*202+2831del (n.*202+2831del) | dbSNP gnomAD v4 |
| 15 | g.43068068C>A | CA969161172 | UBR1 | c.660-32G>T (n.660-32G>T) c.*202+2831G>T (n.*202+2831G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068068C= | CA2173020221 | UBR1 | c.660-32G= (n.660-32G=) c.*202+2831G= (n.*202+2831G=) | |
| 15 | g.43068068C>T | CA617634734 | UBR1 | c.660-32G>A (n.660-32G>A) c.*202+2831G>A (n.*202+2831G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068068_43068069del | CA2803932018 | UBR1 | c.660-33_660-32del (n.660-33_660-32del) c.*202+2830_*202+2831del (n.*202+2830_*202+2831del) | |
| 15 | g.43068069T>A | CA969161174 | UBR1 | c.660-33A>T (n.660-33A>T) c.*202+2830A>T (n.*202+2830A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068069T>C | CA2628093641 | UBR1 | c.660-33A>G (n.660-33A>G) c.*202+2830A>G (n.*202+2830A>G) | gnomAD v4 |
| 15 | g.43068070A>T | CA969161189 | UBR1 | c.660-34T>A (n.660-34T>A) c.*202+2829T>A (n.*202+2829T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068070_43068077del | CA969161178 | UBR1 | c.660-41_660-34del (n.660-41_660-34del) c.*202+2822_*202+2829del (n.*202+2822_*202+2829del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068070_43068082del | CA969161183 | UBR1 | c.660-46_660-34del (n.660-46_660-34del) c.*202+2817_*202+2829del (n.*202+2817_*202+2829del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068071del | CA2628093642 | UBR1 | c.660-35del (n.660-35del) c.*202+2828del (n.*202+2828del) | gnomAD v4 |
| 15 | g.43068071C>A | CA969161193 | UBR1 | c.660-35G>T (n.660-35G>T) c.*202+2828G>T (n.*202+2828G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068071C= | CA2173020222 | UBR1 | c.660-35G= (n.660-35G=) c.*202+2828G= (n.*202+2828G=) | |
| 15 | g.43068071C>G | CA2628093643 | UBR1 | c.660-35G>C (n.660-35G>C) c.*202+2828G>C (n.*202+2828G>C) | gnomAD v4 |
| 15 | g.43068071C>T | CA969161202 | UBR1 | c.660-35G>A (n.660-35G>A) c.*202+2828G>A (n.*202+2828G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068072A= | CA2173020223 | UBR1 | c.660-36T= (n.660-36T=) c.*202+2827T= (n.*202+2827T=) | |
| 15 | g.43068072A>C | CA2628093644 | UBR1 | c.660-36T>G (n.660-36T>G) c.*202+2827T>G (n.*202+2827T>G) | gnomAD v4 |
| 15 | g.43068072A>G | CA617634735 | UBR1 | c.660-36T>C (n.660-36T>C) c.*202+2827T>C (n.*202+2827T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068073A>C | CA2628093645 | UBR1 | c.660-37T>G (n.660-37T>G) c.*202+2826T>G (n.*202+2826T>G) | gnomAD v4 |
| 15 | g.43068073A>G | CA2628093646 | UBR1 | c.660-37T>C (n.660-37T>C) c.*202+2826T>C (n.*202+2826T>C) | gnomAD v4 |
| 15 | g.43068073A>T | CA969161206 | UBR1 | c.660-37T>A (n.660-37T>A) c.*202+2826T>A (n.*202+2826T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068074del | CA2628093647 | UBR1 | c.660-38del (n.660-38del) c.*202+2825del (n.*202+2825del) | gnomAD v4 |
| 15 | g.43068074C>A | CA712969721 | UBR1 | c.660-38G>T (n.660-38G>T) c.*202+2825G>T (n.*202+2825G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068074C= | CA2173020224 | UBR1 | c.660-38G= (n.660-38G=) c.*202+2825G= (n.*202+2825G=) | |
| 15 | g.43068074C>T | CA2628093648 | UBR1 | c.660-38G>A (n.660-38G>A) c.*202+2825G>A (n.*202+2825G>A) | gnomAD v4 |
| 15 | g.43068077dup | CA969161214 | UBR1 | c.660-39dup (n.660-39dup) c.*202+2824dup (n.*202+2824dup) | gnomAD v3 gnomAD v4 |
| 15 | g.43068077del | CA2628093649 | UBR1 | c.660-39del (n.660-39del) c.*202+2824del (n.*202+2824del) | gnomAD v4 |
| 15 | g.43068076A>C | CA2628093650 | UBR1 | c.660-40T>G (n.660-40T>G) c.*202+2823T>G (n.*202+2823T>G) | gnomAD v4 |
| 15 | g.43068076A>G | CA2628093651 | UBR1 | c.660-40T>C (n.660-40T>C) c.*202+2823T>C (n.*202+2823T>C) | gnomAD v4 |
| 15 | g.43068076A>T | CA969161215 | UBR1 | c.660-40T>A (n.660-40T>A) c.*202+2823T>A (n.*202+2823T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068076_43068077insTTTTTTTTTTTTTT | CA969161233 | UBR1 | c.660-41_660-40insAAAAAAAAAAAAAA (n.660-41_660-40insAAAAAAAAAAAAAA) c.*202+2822_*202+2823insAAAAAAAAAAAAAA (n.*202+2822_*202+2823insAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068077A>C | CA2628093652 | UBR1 | c.660-41T>G (n.660-41T>G) c.*202+2822T>G (n.*202+2822T>G) | gnomAD v4 |
| 15 | g.43068077A>G | CA2628093653 | UBR1 | c.660-41T>C (n.660-41T>C) c.*202+2822T>C (n.*202+2822T>C) | gnomAD v4 |
| 15 | g.43068077A>T | CA969161229 | UBR1 | c.660-41T>A (n.660-41T>A) c.*202+2822T>A (n.*202+2822T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068078del | CA2803932019 | UBR1 | c.660-42del (n.660-42del) c.*202+2821del (n.*202+2821del) | |
| 15 | g.43068078T>A | CA7518955 | UBR1 | c.660-42A>T (n.660-42A>T) c.*202+2821A>T (n.*202+2821A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068078T>C | CA2628093654 | UBR1 | c.660-42A>G (n.660-42A>G) c.*202+2821A>G (n.*202+2821A>G) | gnomAD v4 |
| 15 | g.43068078T>G | CA2628093655 | UBR1 | c.660-42A>C (n.660-42A>C) c.*202+2821A>C (n.*202+2821A>C) | gnomAD v4 |
| 15 | g.43068078T= | CA2173020225 | UBR1 | c.660-42A= (n.660-42A=) c.*202+2821A= (n.*202+2821A=) | |
| 15 | g.43068079A>G | CA2628093656 | UBR1 | c.660-43T>C (n.660-43T>C) c.*202+2820T>C (n.*202+2820T>C) | gnomAD v4 |
| 15 | g.43068083_43068088del | CA969161235 | UBR1 | c.660-48_660-43del (n.660-48_660-43del) c.*202+2815_*202+2820del (n.*202+2815_*202+2820del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068079_43068080insTT | CA969161236 | UBR1 | c.660-44_660-43insAA (n.660-44_660-43insAA) c.*202+2819_*202+2820insAA (n.*202+2819_*202+2820insAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068080A>C | CA2628093657 | UBR1 | c.660-44T>G (n.660-44T>G) c.*202+2819T>G (n.*202+2819T>G) | gnomAD v4 |
| 15 | g.43068080A>T | CA969161237 | UBR1 | c.660-44T>A (n.660-44T>A) c.*202+2819T>A (n.*202+2819T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068081A= | CA2173020226 | UBR1 | c.660-45T= (n.660-45T=) c.*202+2818T= (n.*202+2818T=) | |
| 15 | g.43068081A>C | CA617634736 | UBR1 | c.660-45T>G (n.660-45T>G) c.*202+2818T>G (n.*202+2818T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068081A>G | CA2628093658 | UBR1 | c.660-45T>C (n.660-45T>C) c.*202+2818T>C (n.*202+2818T>C) | gnomAD v4 |
| 15 | g.43068081A>T | CA969161238 | UBR1 | c.660-45T>A (n.660-45T>A) c.*202+2818T>A (n.*202+2818T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068082G>A | CA7518956 | UBR1 | c.660-46C>T (n.660-46C>T) c.*202+2817C>T (n.*202+2817C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068082G>C | CA2628093661 | UBR1 | c.660-46C>G (n.660-46C>G) c.*202+2817C>G (n.*202+2817C>G) | gnomAD v4 |
| 15 | g.43068082G= | CA2173020227 | UBR1 | c.660-46C= (n.660-46C=) c.*202+2817C= (n.*202+2817C=) | |
| 15 | g.43068082G>T | CA969161242 | UBR1 | c.660-46C>A (n.660-46C>A) c.*202+2817C>A (n.*202+2817C>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068082_43068083del | CA2628093660 | UBR1 | c.660-47_660-46del (n.660-47_660-46del) c.*202+2816_*202+2817del (n.*202+2816_*202+2817del) | gnomAD v4 |
| 15 | g.43068083del | CA2628093659 | UBR1 | c.660-46del (n.660-46del) c.*202+2817del (n.*202+2817del) | gnomAD v4 |
| 15 | g.43068083G>A | CA617634737 | UBR1 | c.660-47C>T (n.660-47C>T) c.*202+2816C>T (n.*202+2816C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068083G>C | CA2628093662 | UBR1 | c.660-47C>G (n.660-47C>G) c.*202+2816C>G (n.*202+2816C>G) | gnomAD v4 |
| 15 | g.43068083G= | CA2173020229 | UBR1 | c.660-47C= (n.660-47C=) c.*202+2816C= (n.*202+2816C=) | |
| 15 | g.43068083G>T | CA969161252 | UBR1 | c.660-47C>A (n.660-47C>A) c.*202+2816C>A (n.*202+2816C>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068083_43068084delinsGA | CA2173020228 | UBR1 | c.660-48_660-47delinsTC (n.660-48_660-47delinsTC) c.*202+2815_*202+2816delinsTC (n.*202+2815_*202+2816delinsTC) | |
| 15 | g.43068084_43068088del | CA969161248 | UBR1 | c.660-51_660-47del (n.660-51_660-47del) c.*202+2812_*202+2816del (n.*202+2812_*202+2816del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068084A>C | CA969161253 | UBR1 | c.660-48T>G (n.660-48T>G) c.*202+2815T>G (n.*202+2815T>G) | gnomAD v3 gnomAD v4 |
| 15 | g.43068084A>G | CA2628093664 | UBR1 | c.660-48T>C (n.660-48T>C) c.*202+2815T>C (n.*202+2815T>C) | gnomAD v4 |
| 15 | g.43068084A>T | CA969161255 | UBR1 | c.660-48T>A (n.660-48T>A) c.*202+2815T>A (n.*202+2815T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068087del | CA7518957 | UBR1 | c.660-48del (n.660-48del) c.*202+2815del (n.*202+2815del) | dbSNP ExAC gnomAD v4 |
| 15 | g.43068088_43068093del | CA2592051458 | UBR1 | c.660-53_660-48del (n.660-53_660-48del) c.*202+2810_*202+2815del (n.*202+2810_*202+2815del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAACAAAAAAAGAAAAAGTAAAAAAAAAAAAAAAAAA | CA2506992272 | UBR1 | c.660-48_660-47insTCTTTTTTTGTTTTTTTTTTTTTTTTTTTTACTTTT (n.660-48_660-47insTCTTTTTTTGTTTTTTTTTTTTTTTTTTTTACTTTT) c.*202+2815_*202+2816insTCTTTTTTTGTTTTTTTTTTTTTTTTTTTTACTTTT (n.*202+2815_*202+2816insTCTTTTTTTGTTTTTTTTTTTTTTTTTTTTACTTTT) | |
| 15 | g.43068092_43068172del | CA2628093663 | UBR1 | c.660-128_660-48del (n.660-128_660-48del) c.*202+2735_*202+2815del (n.*202+2735_*202+2815del) | gnomAD v4 |
| 15 | g.43068085A>C | CA2628093666 | UBR1 | c.660-49T>G (n.660-49T>G) c.*202+2814T>G (n.*202+2814T>G) | gnomAD v4 |
| 15 | g.43068085A>T | CA2803932020 | UBR1 | c.660-49T>A (n.660-49T>A) c.*202+2814T>A (n.*202+2814T>A) | |
| 15 | g.43068092_43068158del | CA2628093665 | UBR1 | c.660-115_660-49del (n.660-115_660-49del) c.*202+2748_*202+2814del (n.*202+2748_*202+2814del) | gnomAD v4 |
| 15 | g.43068086A= | CA2173020230 | UBR1 | c.660-50T= (n.660-50T=) c.*202+2813T= (n.*202+2813T=) | |
| 15 | g.43068086A>C | CA2575700206 | UBR1 | c.660-50T>G (n.660-50T>G) c.*202+2813T>G (n.*202+2813T>G) | gnomAD v4 |
| 15 | g.43068086A>G | CA7518958 | UBR1 | c.660-50T>C (n.660-50T>C) c.*202+2813T>C (n.*202+2813T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068086A>T | CA969161261 | UBR1 | c.660-50T>A (n.660-50T>A) c.*202+2813T>A (n.*202+2813T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068086_43068087insGGA | CA2803932022 | UBR1 | c.660-50_660-49insCCT (n.660-50_660-49insCCT) c.*202+2813_*202+2814insCCT (n.*202+2813_*202+2814insCCT) | |
| 15 | g.43068088_43068091del | CA2803932021 | UBR1 | c.660-53_660-50del (n.660-53_660-50del) c.*202+2810_*202+2813del (n.*202+2810_*202+2813del) | |
| 15 | g.43068087A>C | CA2628093667 | UBR1 | c.660-51T>G (n.660-51T>G) c.*202+2812T>G (n.*202+2812T>G) | gnomAD v4 |
| 15 | g.43068087A>G | CA2628093668 | UBR1 | c.660-51T>C (n.660-51T>C) c.*202+2812T>C (n.*202+2812T>C) | gnomAD v4 |
| 15 | g.43068087A>T | CA969161268 | UBR1 | c.660-51T>A (n.660-51T>A) c.*202+2812T>A (n.*202+2812T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068087_43068088delinsAG | CA2173020232 | UBR1 | c.660-52_660-51delinsCT (n.660-52_660-51delinsCT) c.*202+2811_*202+2812delinsCT (n.*202+2811_*202+2812delinsCT) | |
| 15 | g.43068087_43068089delinsAGT | CA2173020231 | UBR1 | c.660-53_660-51delinsACT (n.660-53_660-51delinsACT) c.*202+2810_*202+2812delinsACT (n.*202+2810_*202+2812delinsACT) | |
| 15 | g.43068088_43068090del | CA2575700207 | UBR1 | c.660-53_660-51del (n.660-53_660-51del) c.*202+2810_*202+2812del (n.*202+2810_*202+2812del) | gnomAD v4 |
| 15 | g.43068088del | CA7518960 | UBR1 | c.660-52del (n.660-52del) c.*202+2811del (n.*202+2811del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43068088G>A | CA7518961 | UBR1 | c.660-52C>T (n.660-52C>T) c.*202+2811C>T (n.*202+2811C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068088G>C | CA2628093669 | UBR1 | c.660-52C>G (n.660-52C>G) c.*202+2811C>G (n.*202+2811C>G) | gnomAD v4 |
| 15 | g.43068088G= | CA2173020233 | UBR1 | c.660-52C= (n.660-52C=) c.*202+2811C= (n.*202+2811C=) | |
| 15 | g.43068088G>T | CA969161278 | UBR1 | c.660-52C>A (n.660-52C>A) c.*202+2811C>A (n.*202+2811C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068088dup | CA2628093670 | UBR1 | c.660-52dup (n.660-52dup) c.*202+2811dup (n.*202+2811dup) | gnomAD v4 |
| 15 | g.43068088_43068089del | CA7518959 | UBR1 | c.660-53_660-52del (n.660-53_660-52del) c.*202+2810_*202+2811del (n.*202+2810_*202+2811del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43068088_43068089delinsGT | CA2173020235 | UBR1 | c.660-53_660-52delinsAC (n.660-53_660-52delinsAC) c.*202+2810_*202+2811delinsAC (n.*202+2810_*202+2811delinsAC) | |
| 15 | g.43068088_43068098delinsGTAAAAAAAAA | CA2173020234 | UBR1 | c.660-62_660-52delinsTTTTTTTTTAC (n.660-62_660-52delinsTTTTTTTTTAC) c.*202+2801_*202+2811delinsTTTTTTTTTAC (n.*202+2801_*202+2811delinsTTTTTTTTTAC) | |
| 15 | g.43068088_43068089insA | CA490121077 | UBR1 | c.660-53_660-52insT (n.660-53_660-52insT) c.*202+2810_*202+2811insT (n.*202+2810_*202+2811insT) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068088_43068089insC | CA617634738 | UBR1 | c.660-53_660-52insG (n.660-53_660-52insG) c.*202+2810_*202+2811insG (n.*202+2810_*202+2811insG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068088_43068089insAA | CA2173020238 | UBR1 | c.660-53_660-52insTT (n.660-53_660-52insTT) c.*202+2810_*202+2811insTT (n.*202+2810_*202+2811insTT) | dbSNP gnomAD v4 |
| 15 | g.43068088_43068089insAAAAAAA | CA2628093678 | UBR1 | c.660-53_660-52insTTTTTTT (n.660-53_660-52insTTTTTTT) c.*202+2810_*202+2811insTTTTTTT (n.*202+2810_*202+2811insTTTTTTT) | gnomAD v4 |
| 15 | g.43068089del | CA7518962 | UBR1 | c.660-53del (n.660-53del) c.*202+2810del (n.*202+2810del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068089T>A | CA269943774 | UBR1 | c.660-53A>T (n.660-53A>T) c.*202+2810A>T (n.*202+2810A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068089T>C | CA2545128275 | UBR1 | c.660-53A>G (n.660-53A>G) c.*202+2810A>G (n.*202+2810A>G) | gnomAD v4 |
| 15 | g.43068089T>G | CA969161293 | UBR1 | c.660-53A>C (n.660-53A>C) c.*202+2810A>C (n.*202+2810A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068089T= | CA2173020236 | UBR1 | c.660-53A= (n.660-53A=) c.*202+2810A= (n.*202+2810A=) | |
| 15 | g.43068089dup | CA269943785 | UBR1 | c.660-53dup (n.660-53dup) c.*202+2810dup (n.*202+2810dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068089_43068090del | CA2575700208 | UBR1 | c.660-54_660-53del (n.660-54_660-53del) c.*202+2809_*202+2810del (n.*202+2809_*202+2810del) | gnomAD v4 |
| 15 | g.43068089_43068091del | CA2575700209 | UBR1 | c.660-55_660-53del (n.660-55_660-53del) c.*202+2808_*202+2810del (n.*202+2808_*202+2810del) | gnomAD v4 |
| 15 | g.43068089_43068093delinsTAAAA | CA2173020237 | UBR1 | c.660-57_660-53delinsTTTTA (n.660-57_660-53delinsTTTTA) c.*202+2806_*202+2810delinsTTTTA (n.*202+2806_*202+2810delinsTTTTA) | |
| 15 | g.43068089_43068098del | CA7518963 | UBR1 | c.660-62_660-53del (n.660-62_660-53del) c.*202+2801_*202+2810del (n.*202+2801_*202+2810del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAATAAAAAAAAAAAAAAAAAA | CA2628093680 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAATAAAAAAAAAAAAAAAAAA | CA2628093679 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAAAAAAAA | CA969161296 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAATAAAAAAAAAAAAAAAAAA | CA617634739 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTTA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAGAAAAAATAAAAAAAAAAAAAAAAAA | CA2628093673 | UBR1 | c.660-53_660-52insTTTTTTCTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTCTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTCTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTCTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAATAAAAAAAAAAAAAAAAAA | CA2628093672 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAATAAAAAAAAAAAAAAAAAA | CA2592051459 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAATAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA | CA2628093676 | UBR1 | c.660-53_660-52insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAACAACAAAAAAAAAAGGAAAAATAAAAAAAAAAAAAAAAAA | CA2628093675 | UBR1 | c.660-53_660-52insTTTTTCCTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTCCTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTCCTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTCCTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAATAAAAAAAAAAAAAAAAGAAAAATAAAAAAAAAAAAAAAAAA | CA2628093681 | UBR1 | c.660-53_660-52insTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTCTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAACAAATAAAAAAAAAATAAAAAAAAAAAAAAAAAA | CA2628093674 | UBR1 | c.660-53_660-52insTTTTTTTTTTATTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTTTTTATTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTTTTTATTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTTTTTATTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAATAAAAAAAAAAAACAAAAAACAAAAGAAAATAAAAAAAAAAAAAAAAAA | CA2628093677 | UBR1 | c.660-53_660-52insTTTTCTTTTGTTTTTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTCTTTTGTTTTTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTCTTTTGTTTTTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTCTTTTGTTTTTTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068109_43068110insAAAAATAAAAAAAAAAAAAAAAAAGA | CA2628093671 | UBR1 | c.660-53_660-52insTTTTTTCTTTTTTTTTTTTTTTTTTA (n.660-53_660-52insTTTTTTCTTTTTTTTTTTTTTTTTTA) c.*202+2810_*202+2811insTTTTTTCTTTTTTTTTTTTTTTTTTA (n.*202+2810_*202+2811insTTTTTTCTTTTTTTTTTTTTTTTTTA) | gnomAD v4 |
| 15 | g.43068089_43068090insTA | CA2628093693 | UBR1 | c.660-54_660-53insTA (n.660-54_660-53insTA) c.*202+2809_*202+2810insTA (n.*202+2809_*202+2810insTA) | gnomAD v4 |
| 15 | g.43068090A= | CA2173020239 | UBR1 | c.660-54T= (n.660-54T=) c.*202+2809T= (n.*202+2809T=) | |
| 15 | g.43068090A>G | CA2628093695 | UBR1 | c.660-54T>C (n.660-54T>C) c.*202+2809T>C (n.*202+2809T>C) | gnomAD v4 |
| 15 | g.43068090A>T | CA617634742 | UBR1 | c.660-54T>A (n.660-54T>A) c.*202+2809T>A (n.*202+2809T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068098_43068099insGAAAAAAAAAAAAAAAAA | CA2628093692 | UBR1 | c.660-54_660-53insTTTTTTTTCTTTTTTTTT (n.660-54_660-53insTTTTTTTTCTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTCTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTCTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068105_43068106insGAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093691 | UBR1 | c.660-54_660-53insTTTTTTTTCTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTCTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTCTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTCTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068106_43068107insGAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093682 | UBR1 | c.660-54_660-53insTTTTTTTCTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTCTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTCTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTCTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAA | CA2628093705 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAA | CA969161412 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAA | CA969161408 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAA | CA2628093711 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAGAAAAAAAAAAAAAAAAAAAA | CA969161338 | UBR1 | c.660-54_660-53insTTCTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTCTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTCTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTCTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAA | CA969161433 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093712 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161429 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093710 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAGAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093688 | UBR1 | c.660-54_660-53insTTTTTTCTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTCTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTCTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTCTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093709 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAAAAAAAAA | CA969161418 | UBR1 | c.660-54_660-53insTATTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTATTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAGAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161353 | UBR1 | c.660-54_660-53insTTTTTTTCTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTCTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTCTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTCTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161436 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAATAAAAAAAAAAAAAAAAAAA | CA969161421 | UBR1 | c.660-54_660-53insTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTATTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAATAAAAAAAAAAAAAAAAAAAAA | CA2628093685 | UBR1 | c.660-54_660-53insTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTATTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161426 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAATAAAAAAAAAAAAAAAAAAA | CA2628093683 | UBR1 | c.660-54_660-53insTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTATTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161335 | UBR1 | c.660-54_660-53insTTTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTCTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTCTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093708 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093707 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093687 | UBR1 | c.660-54_660-53insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093706 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093696 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2803932023 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTT) | |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093684 | UBR1 | c.660-54_660-53insTTTTTTCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTCTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAGAAAACAACAAAAAAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAA | CA969161334 | UBR1 | c.660-54_660-53insTTCTTTTCCTTTTTTTTTTGTTGTTTTCTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTCTTTTCCTTTTTTTTTTGTTGTTTTCTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTCTTTTCCTTTTTTTTTTGTTGTTTTCTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTCTTTTCCTTTTTTTTTTGTTGTTTTCTTTTTTTTTTTTTTTTTTTTT) | |
| 15 | g.43068107_43068108insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2628093697 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAATAAAAAAAAACAAAAAAAAAAAGAAAAAGAAAAAAAAAAAAAAAAAA | CA2628093686 | UBR1 | c.660-54_660-53insCTTTTTCTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insCTTTTTCTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insCTTTTTCTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insCTTTTTCTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161391 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA969161393 | UBR1 | c.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107dup | CA269943787 | UBR1 | c.660-54dup (n.660-54dup) c.*202+2809dup (n.*202+2809dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068106_43068107dup | CA617634740 | UBR1 | c.660-55_660-54dup (n.660-55_660-54dup) c.*202+2808_*202+2809dup (n.*202+2808_*202+2809dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068105_43068107dup | CA617634741 | UBR1 | c.660-56_660-54dup (n.660-56_660-54dup) c.*202+2807_*202+2809dup (n.*202+2807_*202+2809dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068104_43068107dup | CA712969795 | UBR1 | c.660-57_660-54dup (n.660-57_660-54dup) c.*202+2806_*202+2809dup (n.*202+2806_*202+2809dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068103_43068107dup | CA2628093698 | UBR1 | c.660-58_660-54dup (n.660-58_660-54dup) c.*202+2805_*202+2809dup (n.*202+2805_*202+2809dup) | gnomAD v4 |
| 15 | g.43068102_43068107dup | CA969161399 | UBR1 | c.660-59_660-54dup (n.660-59_660-54dup) c.*202+2804_*202+2809dup (n.*202+2804_*202+2809dup) | gnomAD v3 gnomAD v4 |
| 15 | g.43068101_43068107dup | CA969161403 | UBR1 | c.660-60_660-54dup (n.660-60_660-54dup) c.*202+2803_*202+2809dup (n.*202+2803_*202+2809dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068100_43068107dup | CA2628093699 | UBR1 | c.660-61_660-54dup (n.660-61_660-54dup) c.*202+2802_*202+2809dup (n.*202+2802_*202+2809dup) | gnomAD v4 |
| 15 | g.43068099_43068107dup | CA2628093700 | UBR1 | c.660-62_660-54dup (n.660-62_660-54dup) c.*202+2801_*202+2809dup (n.*202+2801_*202+2809dup) | gnomAD v4 |
| 15 | g.43068098_43068107dup | CA2628093701 | UBR1 | c.660-63_660-54dup (n.660-63_660-54dup) c.*202+2800_*202+2809dup (n.*202+2800_*202+2809dup) | gnomAD v4 |
| 15 | g.43068097_43068107dup | CA969161405 | UBR1 | c.660-64_660-54dup (n.660-64_660-54dup) c.*202+2799_*202+2809dup (n.*202+2799_*202+2809dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068096_43068107dup | CA969161407 | UBR1 | c.660-65_660-54dup (n.660-65_660-54dup) c.*202+2798_*202+2809dup (n.*202+2798_*202+2809dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068095_43068107dup | CA2628093702 | UBR1 | c.660-66_660-54dup (n.660-66_660-54dup) c.*202+2797_*202+2809dup (n.*202+2797_*202+2809dup) | gnomAD v4 |
| 15 | g.43068093_43068107dup | CA2628093703 | UBR1 | c.660-68_660-54dup (n.660-68_660-54dup) c.*202+2795_*202+2809dup (n.*202+2795_*202+2809dup) | gnomAD v4 |
| 15 | g.43068092_43068107dup | CA2803932024 | UBR1 | c.660-69_660-54dup (n.660-69_660-54dup) c.*202+2794_*202+2809dup (n.*202+2794_*202+2809dup) | |
| 15 | g.43068090_43068107dup | CA2628093704 | UBR1 | c.660-71_660-54dup (n.660-71_660-54dup) c.*202+2792_*202+2809dup (n.*202+2792_*202+2809dup) | gnomAD v4 |
| 15 | g.43068107del | CA269943796 | UBR1 | c.660-54del (n.660-54del) c.*202+2809del (n.*202+2809del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068106_43068107del | CA490121078 | UBR1 | c.660-55_660-54del (n.660-55_660-54del) c.*202+2808_*202+2809del (n.*202+2808_*202+2809del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068105_43068107del | CA969161371 | UBR1 | c.660-56_660-54del (n.660-56_660-54del) c.*202+2807_*202+2809del (n.*202+2807_*202+2809del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068104_43068107del | CA969161373 | UBR1 | c.660-57_660-54del (n.660-57_660-54del) c.*202+2806_*202+2809del (n.*202+2806_*202+2809del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068103_43068107del | CA2551419235 | UBR1 | c.660-58_660-54del (n.660-58_660-54del) c.*202+2805_*202+2809del (n.*202+2805_*202+2809del) | gnomAD v4 |
| 15 | g.43068102_43068107del | CA969161374 | UBR1 | c.660-59_660-54del (n.660-59_660-54del) c.*202+2804_*202+2809del (n.*202+2804_*202+2809del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068101_43068107del | CA2628093694 | UBR1 | c.660-60_660-54del (n.660-60_660-54del) c.*202+2803_*202+2809del (n.*202+2803_*202+2809del) | gnomAD v4 |
| 15 | g.43068099_43068107del | CA969161375 | UBR1 | c.660-62_660-54del (n.660-62_660-54del) c.*202+2801_*202+2809del (n.*202+2801_*202+2809del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068098_43068107del | CA969161376 | UBR1 | c.660-63_660-54del (n.660-63_660-54del) c.*202+2800_*202+2809del (n.*202+2800_*202+2809del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068097_43068107del | CA969161379 | UBR1 | c.660-64_660-54del (n.660-64_660-54del) c.*202+2799_*202+2809del (n.*202+2799_*202+2809del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068095_43068107del | CA969161383 | UBR1 | c.660-66_660-54del (n.660-66_660-54del) c.*202+2797_*202+2809del (n.*202+2797_*202+2809del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAAAAAAAAAAAAAAAGA | CA2628093689 | UBR1 | c.660-54_660-53insTTCTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTCTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTCTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTCTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAAAAAAAAAAAAAAAAGA | CA2628093690 | UBR1 | c.660-54_660-53insTTTCTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTCTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTCTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTCTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAAAAAAAAAAAAAAAAAAAGA | CA969161356 | UBR1 | c.660-54_660-53insTTTTTTCTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTCTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTCTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTCTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAAAAAAAAAAAAAAAAAAAAGA | CA969161363 | UBR1 | c.660-54_660-53insTTTTTTTCTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTTTTTTTCTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTTTTTTTCTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTTTTTTTCTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAAAAAAAAAAAAGAAAAAGAAAAAAAAAAAAAAAAAAAGA | CA969161365 | UBR1 | c.660-54_660-53insTCTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT (n.660-54_660-53insTCTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT) c.*202+2809_*202+2810insTCTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT (n.*202+2809_*202+2810insTCTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 15 | g.43068091_43068109dup | CA2546613461 | UBR1 | c.660-72_660-54dup (n.660-72_660-54dup) c.*202+2791_*202+2809dup (n.*202+2791_*202+2809dup) | |
| 15 | g.43068090_43068109dup | CA969161355 | UBR1 | c.660-73_660-54dup (n.660-73_660-54dup) c.*202+2790_*202+2809dup (n.*202+2790_*202+2809dup) | gnomAD v3 gnomAD v4 |
| 15 | g.43068090_43068091insG | CA2628093713 | UBR1 | c.660-55_660-54insC (n.660-55_660-54insC) c.*202+2808_*202+2809insC (n.*202+2808_*202+2809insC) | gnomAD v4 |
| 15 | g.43068091A>C | CA2628093716 | UBR1 | c.660-55T>G (n.660-55T>G) c.*202+2808T>G (n.*202+2808T>G) | gnomAD v4 |
| 15 | g.43068091A>G | CA2628093715 | UBR1 | c.660-55T>C (n.660-55T>C) c.*202+2808T>C (n.*202+2808T>C) | gnomAD v4 |
| 15 | g.43068091A>T | CA2628093714 | UBR1 | c.660-55T>A (n.660-55T>A) c.*202+2808T>A (n.*202+2808T>A) | gnomAD v4 |
| 15 | g.43068107_43068108insTAAAAAAAAAAAAAAAAA | CA2628093718 | UBR1 | c.660-55_660-54insATTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAATAAAAAAAAAAAAAAAAA | CA2628093721 | UBR1 | c.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAATAAAAAAAAAAAAAAAAA | CA2628093722 | UBR1 | c.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAGAAAAAATAAAAAAAAAAAAAAAAA | CA2628093719 | UBR1 | c.660-55_660-54insATTTTTTCTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTCTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTCTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTCTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAATAAAAAAAAAAAAAAAAA | CA2628093723 | UBR1 | c.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAATAAAAAAAAAAAAAAAAA | CA2628093724 | UBR1 | c.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAAAATAAAAAAAAAAAAAAAAA | CA2628093717 | UBR1 | c.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAATAAAGGAAAACTAAAAAAAAAAAAAAAAA | CA2803932025 | UBR1 | c.660-55_660-54insAGTTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insAGTTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insAGTTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insAGTTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
| 15 | g.43068107_43068108insAAAAAATAAAAAAAAAAATAAAGAAAAAATAAAAAAAAAAAAAAAAA | CA2628093720 | UBR1 | c.660-55_660-54insATTTTTTCTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.660-55_660-54insATTTTTTCTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT) c.*202+2808_*202+2809insATTTTTTCTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT (n.*202+2808_*202+2809insATTTTTTCTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068092A>C | CA2628093727 | UBR1 | c.660-56T>G (n.660-56T>G) c.*202+2807T>G (n.*202+2807T>G) | gnomAD v4 |
| 15 | g.43068092A>G | CA2628093726 | UBR1 | c.660-56T>C (n.660-56T>C) c.*202+2807T>C (n.*202+2807T>C) | gnomAD v4 |
| 15 | g.43068092A>T | CA969161451 | UBR1 | c.660-56T>A (n.660-56T>A) c.*202+2807T>A (n.*202+2807T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAATAAAAAAAAAAAAAAAA | CA2628093725 | UBR1 | c.660-56_660-55insATTTTTTTTTTTTTTTTTTTTTT (n.660-56_660-55insATTTTTTTTTTTTTTTTTTTTTT) c.*202+2807_*202+2808insATTTTTTTTTTTTTTTTTTTTTT (n.*202+2807_*202+2808insATTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAAAAAAA | CA2628093728 | UBR1 | c.660-56_660-55insATTTTTTTTTTTTTTTTTTTTTTT (n.660-56_660-55insATTTTTTTTTTTTTTTTTTTTTTT) c.*202+2807_*202+2808insATTTTTTTTTTTTTTTTTTTTTTT (n.*202+2807_*202+2808insATTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAAAAATAAAAAAAAAAAAAAAA | CA2628093729 | UBR1 | c.660-56_660-55insATTTTTTTTTTTTTTTTTTTTTTTTTT (n.660-56_660-55insATTTTTTTTTTTTTTTTTTTTTTTTTT) c.*202+2807_*202+2808insATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*202+2807_*202+2808insATTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068093A>T | CA969161452 | UBR1 | c.660-57T>A (n.660-57T>A) c.*202+2806T>A (n.*202+2806T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068094A= | CA2173020240 | UBR1 | c.660-58T= (n.660-58T=) c.*202+2805T= (n.*202+2805T=) | |
| 15 | g.43068094A>G | CA2173020241 | UBR1 | c.660-58T>C (n.660-58T>C) c.*202+2805T>C (n.*202+2805T>C) | dbSNP gnomAD v4 |
| 15 | g.43068094A>T | CA969161454 | UBR1 | c.660-58T>A (n.660-58T>A) c.*202+2805T>A (n.*202+2805T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068095A>G | CA2628093730 | UBR1 | c.660-59T>C (n.660-59T>C) c.*202+2804T>C (n.*202+2804T>C) | gnomAD v4 |
| 15 | g.43068096A>C | CA2628093731 | UBR1 | c.660-60T>G (n.660-60T>G) c.*202+2803T>G (n.*202+2803T>G) | gnomAD v4 |
| 15 | g.43068096A>G | CA2628093732 | UBR1 | c.660-60T>C (n.660-60T>C) c.*202+2803T>C (n.*202+2803T>C) | gnomAD v4 |
| 15 | g.43068096A>T | CA969161459 | UBR1 | c.660-60T>A (n.660-60T>A) c.*202+2803T>A (n.*202+2803T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068097_43068109del | CA969161455 | UBR1 | c.660-72_660-60del (n.660-72_660-60del) c.*202+2791_*202+2803del (n.*202+2791_*202+2803del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068097A>T | CA969161465 | UBR1 | c.660-61T>A (n.660-61T>A) c.*202+2802T>A (n.*202+2802T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107_43068108insAAAAAAATAAAAAAAAAAA | CA2628093733 | UBR1 | c.660-61_660-60insATTTTTTTTTTTTTTTTTT (n.660-61_660-60insATTTTTTTTTTTTTTTTTT) c.*202+2802_*202+2803insATTTTTTTTTTTTTTTTTT (n.*202+2802_*202+2803insATTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068101_43068114del | CA969161462 | UBR1 | c.660-74_660-61del (n.660-74_660-61del) c.*202+2789_*202+2802del (n.*202+2789_*202+2802del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068097_43068098insTTT | CA969161466 | UBR1 | c.660-62_660-61insAAA (n.660-62_660-61insAAA) c.*202+2801_*202+2802insAAA (n.*202+2801_*202+2802insAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068098A>G | CA2628093734 | UBR1 | c.660-62T>C (n.660-62T>C) c.*202+2801T>C (n.*202+2801T>C) | gnomAD v4 |
| 15 | g.43068102_43068114del | CA969161467 | UBR1 | c.660-74_660-62del (n.660-74_660-62del) c.*202+2789_*202+2801del (n.*202+2789_*202+2801del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068098_43068099insG | CA2628093736 | UBR1 | c.660-63_660-62insC (n.660-63_660-62insC) c.*202+2800_*202+2801insC (n.*202+2800_*202+2801insC) | gnomAD v4 |
| 15 | g.43068099A>G | CA2628093735 | UBR1 | c.660-63T>C (n.660-63T>C) c.*202+2800T>C (n.*202+2800T>C) | gnomAD v4 |
| 15 | g.43068099A>T | CA969161470 | UBR1 | c.660-63T>A (n.660-63T>A) c.*202+2800T>A (n.*202+2800T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068103_43068114del | CA969161469 | UBR1 | c.660-74_660-63del (n.660-74_660-63del) c.*202+2789_*202+2800del (n.*202+2789_*202+2800del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068099_43068100insTTTTTT | CA969161474 | UBR1 | c.660-64_660-63insAAAAAA (n.660-64_660-63insAAAAAA) c.*202+2799_*202+2800insAAAAAA (n.*202+2799_*202+2800insAAAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068099_43068100insTTTTTTTTTTTT | CA969161471 | UBR1 | c.660-64_660-63insAAAAAAAAAAAA (n.660-64_660-63insAAAAAAAAAAAA) c.*202+2799_*202+2800insAAAAAAAAAAAA (n.*202+2799_*202+2800insAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068100A>G | CA2628093737 | UBR1 | c.660-64T>C (n.660-64T>C) c.*202+2799T>C (n.*202+2799T>C) | gnomAD v4 |
| 15 | g.43068100A>T | CA969161487 | UBR1 | c.660-64T>A (n.660-64T>A) c.*202+2799T>A (n.*202+2799T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068104_43068114del | CA969161480 | UBR1 | c.660-74_660-64del (n.660-74_660-64del) c.*202+2789_*202+2799del (n.*202+2789_*202+2799del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068100_43068101insTTT | CA969161489 | UBR1 | c.660-65_660-64insAAA (n.660-65_660-64insAAA) c.*202+2798_*202+2799insAAA (n.*202+2798_*202+2799insAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068101A>G | CA2628093738 | UBR1 | c.660-65T>C (n.660-65T>C) c.*202+2798T>C (n.*202+2798T>C) | gnomAD v4 |
| 15 | g.43068101A>T | CA969161491 | UBR1 | c.660-65T>A (n.660-65T>A) c.*202+2798T>A (n.*202+2798T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068102A>T | CA969161497 | UBR1 | c.660-66T>A (n.660-66T>A) c.*202+2797T>A (n.*202+2797T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068106_43068114del | CA969161492 | UBR1 | c.660-74_660-66del (n.660-74_660-66del) c.*202+2789_*202+2797del (n.*202+2789_*202+2797del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068102_43068103insG | CA2628093739 | UBR1 | c.660-67_660-66insC (n.660-67_660-66insC) c.*202+2796_*202+2797insC (n.*202+2796_*202+2797insC) | gnomAD v4 |
| 15 | g.43068103A>T | CA969161502 | UBR1 | c.660-67T>A (n.660-67T>A) c.*202+2796T>A (n.*202+2796T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068104A>C | CA2628093740 | UBR1 | c.660-68T>G (n.660-68T>G) c.*202+2795T>G (n.*202+2795T>G) | gnomAD v4 |
| 15 | g.43068104A>G | CA2628093741 | UBR1 | c.660-68T>C (n.660-68T>C) c.*202+2795T>C (n.*202+2795T>C) | gnomAD v4 |
| 15 | g.43068105A= | CA2173020242 | UBR1 | c.660-69T= (n.660-69T=) c.*202+2794T= (n.*202+2794T=) | |
| 15 | g.43068105A>G | CA2628093742 | UBR1 | c.660-69T>C (n.660-69T>C) c.*202+2794T>C (n.*202+2794T>C) | gnomAD v4 |
| 15 | g.43068106_43068109del | CA2628093743 | UBR1 | c.660-72_660-69del (n.660-72_660-69del) c.*202+2791_*202+2794del (n.*202+2791_*202+2794del) | gnomAD v4 |
| 15 | g.43068105_43068106insG | CA2628093744 | UBR1 | c.660-70_660-69insC (n.660-70_660-69insC) c.*202+2793_*202+2794insC (n.*202+2793_*202+2794insC) | gnomAD v4 |
| 15 | g.43068105_43068106insTTTTATT | CA969161504 | UBR1 | c.660-70_660-69insAATAAAA (n.660-70_660-69insAATAAAA) c.*202+2793_*202+2794insAATAAAA (n.*202+2793_*202+2794insAATAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068106A= | CA2173020244 | UBR1 | c.660-70T= (n.660-70T=) c.*202+2793T= (n.*202+2793T=) | |
| 15 | g.43068106A>C | CA2628093746 | UBR1 | c.660-70T>G (n.660-70T>G) c.*202+2793T>G (n.*202+2793T>G) | gnomAD v4 |
| 15 | g.43068106A>G | CA269943806 | UBR1 | c.660-70T>C (n.660-70T>C) c.*202+2793T>C (n.*202+2793T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068106A>T | CA2628093747 | UBR1 | c.660-70T>A (n.660-70T>A) c.*202+2793T>A (n.*202+2793T>A) | gnomAD v4 |
| 15 | g.43068106_43068107insGA | CA2173020243 | UBR1 | c.660-70_660-69insCT (n.660-70_660-69insCT) c.*202+2793_*202+2794insCT (n.*202+2793_*202+2794insCT) | dbSNP |
| 15 | g.43068107_43068109del | CA2628093745 | UBR1 | c.660-72_660-70del (n.660-72_660-70del) c.*202+2791_*202+2793del (n.*202+2791_*202+2793del) | gnomAD v4 |
| 15 | g.43068106_43068107insG | CA2628093748 | UBR1 | c.660-71_660-70insC (n.660-71_660-70insC) c.*202+2792_*202+2793insC (n.*202+2792_*202+2793insC) | gnomAD v4 |
| 15 | g.43068107A>G | CA969161507 | UBR1 | c.660-71T>C (n.660-71T>C) c.*202+2792T>C (n.*202+2792T>C) | gnomAD v3 gnomAD v4 |
| 15 | g.43068107A>T | CA2575700210 | UBR1 | c.660-71T>A (n.660-71T>A) c.*202+2792T>A (n.*202+2792T>A) | |
| 15 | g.43068107_43068108delinsAG | CA2173020245 | UBR1 | c.660-72_660-71delinsCT (n.660-72_660-71delinsCT) c.*202+2791_*202+2792delinsCT (n.*202+2791_*202+2792delinsCT) | |
| 15 | g.43068108_43068109del | CA969161506 | UBR1 | c.660-72_660-71del (n.660-72_660-71del) c.*202+2791_*202+2792del (n.*202+2791_*202+2792del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068108_43068111del | CA2628093749 | UBR1 | c.660-74_660-71del (n.660-74_660-71del) c.*202+2789_*202+2792del (n.*202+2789_*202+2792del) | gnomAD v4 |
| 15 | g.43068108del | CA919541158 | UBR1 | c.660-72del (n.660-72del) c.*202+2791del (n.*202+2791del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068108G>A | CA617634743 | UBR1 | c.660-72C>T (n.660-72C>T) c.*202+2791C>T (n.*202+2791C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068108G>C | CA2628093750 | UBR1 | c.660-72C>G (n.660-72C>G) c.*202+2791C>G (n.*202+2791C>G) | gnomAD v4 |
| 15 | g.43068108G= | CA2173020246 | UBR1 | c.660-72C= (n.660-72C=) c.*202+2791C= (n.*202+2791C=) | |
| 15 | g.43068108G>T | CA969161515 | UBR1 | c.660-72C>A (n.660-72C>A) c.*202+2791C>A (n.*202+2791C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068108_43068110del | CA969161514 | UBR1 | c.660-74_660-72del (n.660-74_660-72del) c.*202+2789_*202+2791del (n.*202+2789_*202+2791del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068108_43068109insTTTTATTTTTTTT | CA969161522 | UBR1 | c.660-73_660-72insAAAAAAAATAAAA (n.660-73_660-72insAAAAAAAATAAAA) c.*202+2790_*202+2791insAAAAAAAATAAAA (n.*202+2790_*202+2791insAAAAAAAATAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068109A= | CA2173020247 | UBR1 | c.660-73T= (n.660-73T=) c.*202+2790T= (n.*202+2790T=) | |
| 15 | g.43068109A>C | CA2628093752 | UBR1 | c.660-73T>G (n.660-73T>G) c.*202+2790T>G (n.*202+2790T>G) | gnomAD v4 |
| 15 | g.43068109A>G | CA617634744 | UBR1 | c.660-73T>C (n.660-73T>C) c.*202+2790T>C (n.*202+2790T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAAAAAAAA | CA2628093751 | UBR1 | c.660-73_660-72insTTTTTTTTTTTT (n.660-73_660-72insTTTTTTTTTTTT) c.*202+2790_*202+2791insTTTTTTTTTTTT (n.*202+2790_*202+2791insTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068109_43068110insAAAAAG | CA2628093753 | UBR1 | c.660-74_660-73insCTTTTT (n.660-74_660-73insCTTTTT) c.*202+2789_*202+2790insCTTTTT (n.*202+2789_*202+2790insCTTTTT) | gnomAD v4 |
| 15 | g.43068110del | CA969161534 | UBR1 | c.660-74del (n.660-74del) c.*202+2789del (n.*202+2789del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068110C>A | CA269943807 | UBR1 | c.660-74G>T (n.660-74G>T) c.*202+2789G>T (n.*202+2789G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.43068110C= | CA2173020248 | UBR1 | c.660-74G= (n.660-74G=) c.*202+2789G= (n.*202+2789G=) | |
| 15 | g.43068110C>G | CA2628093754 | UBR1 | c.660-74G>C (n.660-74G>C) c.*202+2789G>C (n.*202+2789G>C) | gnomAD v4 |
| 15 | g.43068110C>T | CA969161538 | UBR1 | c.660-74G>A (n.660-74G>A) c.*202+2789G>A (n.*202+2789G>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068110_43068111insTT | CA969161545 | UBR1 | c.660-75_660-74insAA (n.660-75_660-74insAA) c.*202+2788_*202+2789insAA (n.*202+2788_*202+2789insAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068111A>C | CA2628093756 | UBR1 | c.660-75T>G (n.660-75T>G) c.*202+2788T>G (n.*202+2788T>G) | gnomAD v4 |
| 15 | g.43068111A>G | CA2628093755 | UBR1 | c.660-75T>C (n.660-75T>C) c.*202+2788T>C (n.*202+2788T>C) | gnomAD v4 |
| 15 | g.43068111A>T | CA969161543 | UBR1 | c.660-75T>A (n.660-75T>A) c.*202+2788T>A (n.*202+2788T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068114dup | CA2628093757 | UBR1 | c.660-75dup (n.660-75dup) c.*202+2788dup (n.*202+2788dup) | gnomAD v4 |
| 15 | g.43068113_43068114del | CA969161542 | UBR1 | c.660-76_660-75del (n.660-76_660-75del) c.*202+2787_*202+2788del (n.*202+2787_*202+2788del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068112A>C | CA2628093758 | UBR1 | c.660-76T>G (n.660-76T>G) c.*202+2787T>G (n.*202+2787T>G) | gnomAD v4 |
| 15 | g.43068112A>G | CA2628093759 | UBR1 | c.660-76T>C (n.660-76T>C) c.*202+2787T>C (n.*202+2787T>C) | gnomAD v4 |
| 15 | g.43068112A>T | CA969161557 | UBR1 | c.660-76T>A (n.660-76T>A) c.*202+2787T>A (n.*202+2787T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068112_43068116delinsAAATT | CA2173020249 | UBR1 | c.660-80_660-76delinsAATTT (n.660-80_660-76delinsAATTT) c.*202+2783_*202+2787delinsAATTT (n.*202+2783_*202+2787delinsAATTT) | |
| 15 | g.43068113A>C | CA2575700211 | UBR1 | c.660-77T>G (n.660-77T>G) c.*202+2786T>G (n.*202+2786T>G) | gnomAD v4 |
| 15 | g.43068113A>G | CA2628093760 | UBR1 | c.660-77T>C (n.660-77T>C) c.*202+2786T>C (n.*202+2786T>C) | gnomAD v4 |
| 15 | g.43068113A>T | CA969161559 | UBR1 | c.660-77T>A (n.660-77T>A) c.*202+2786T>A (n.*202+2786T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068116_43068119del | CA712969805 | UBR1 | c.660-80_660-77del (n.660-80_660-77del) c.*202+2783_*202+2786del (n.*202+2783_*202+2786del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068114A>C | CA969161563 | UBR1 | c.660-78T>G (n.660-78T>G) c.*202+2785T>G (n.*202+2785T>G) | gnomAD v3 gnomAD v4 |
| 15 | g.43068114A>T | CA969161564 | UBR1 | c.660-78T>A (n.660-78T>A) c.*202+2785T>A (n.*202+2785T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068114_43068115insGA | CA2803932026 | UBR1 | c.660-78_660-77insCT (n.660-78_660-77insCT) c.*202+2785_*202+2786insCT (n.*202+2785_*202+2786insCT) | |
| 15 | g.43068115T>A | CA969161568 | UBR1 | c.660-79A>T (n.660-79A>T) c.*202+2784A>T (n.*202+2784A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068115T>C | CA2628093761 | UBR1 | c.660-79A>G (n.660-79A>G) c.*202+2784A>G (n.*202+2784A>G) | gnomAD v4 |
| 15 | g.43068115T>G | CA2628093762 | UBR1 | c.660-79A>C (n.660-79A>C) c.*202+2784A>C (n.*202+2784A>C) | gnomAD v4 |
| 15 | g.43068115_43068116del | CA969161566 | UBR1 | c.660-80_660-79del (n.660-80_660-79del) c.*202+2783_*202+2784del (n.*202+2783_*202+2784del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068116_43068117insTTATTTTATTTTT | CA969161565 | UBR1 | c.660-79_660-78insAAATAAAATAAAA (n.660-79_660-78insAAATAAAATAAAA) c.*202+2784_*202+2785insAAATAAAATAAAA (n.*202+2784_*202+2785insAAATAAAATAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068115_43068121del | CA969161567 | UBR1 | c.660-85_660-79del (n.660-85_660-79del) c.*202+2778_*202+2784del (n.*202+2778_*202+2784del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068116T>A | CA969161571 | UBR1 | c.660-80A>T (n.660-80A>T) c.*202+2783A>T (n.*202+2783A>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068116T>C | CA2628093764 | UBR1 | c.660-80A>G (n.660-80A>G) c.*202+2783A>G (n.*202+2783A>G) | gnomAD v4 |
| 15 | g.43068116T>G | CA2628093763 | UBR1 | c.660-80A>C (n.660-80A>C) c.*202+2783A>C (n.*202+2783A>C) | gnomAD v4 |
| 15 | g.43068117A>C | CA2628093766 | UBR1 | c.660-81T>G (n.660-81T>G) c.*202+2782T>G (n.*202+2782T>G) | gnomAD v4 |
| 15 | g.43068118_43068119insAAAAAAAAAAAAAAA | CA2628093765 | UBR1 | c.660-81_660-80insTTTTTTTTTTTTTTT (n.660-81_660-80insTTTTTTTTTTTTTTT) c.*202+2782_*202+2783insTTTTTTTTTTTTTTT (n.*202+2782_*202+2783insTTTTTTTTTTTTTTT) | gnomAD v4 |
| 15 | g.43068117_43068127del | CA969161574 | UBR1 | c.660-91_660-81del (n.660-91_660-81del) c.*202+2772_*202+2782del (n.*202+2772_*202+2782del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068117_43068118insTTTTTTTATTTT | CA969161580 | UBR1 | c.660-82_660-81insAAAATAAAAAAA (n.660-82_660-81insAAAATAAAAAAA) c.*202+2781_*202+2782insAAAATAAAAAAA (n.*202+2781_*202+2782insAAAATAAAAAAA) | gnomAD v3 gnomAD v4 |
| 15 | g.43068118A>C | CA2628093767 | UBR1 | c.660-82T>G (n.660-82T>G) c.*202+2781T>G (n.*202+2781T>G) | gnomAD v4 |
| 15 | g.43068118A>G | CA2628093768 | UBR1 | c.660-82T>C (n.660-82T>C) c.*202+2781T>C (n.*202+2781T>C) | gnomAD v4 |
| 15 | g.43068118A>T | CA969161575 | UBR1 | c.660-82T>A (n.660-82T>A) c.*202+2781T>A (n.*202+2781T>A) | gnomAD v3 gnomAD v4 |
| 15 | g.43068121_43068124del | CA969161582 | UBR1 | c.660-85_660-82del (n.660-85_660-82del) c.*202+2778_*202+2781del (n.*202+2778_*202+2781del) | gnomAD v3 gnomAD v4 |
| 15 | g.43068119T>A | CA969161585 | UBR1 | c.660-83A>T (n.660-83A>T) c.*202+2780A>T (n.*202+2780A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068119T>G | CA2628093769 | UBR1 | c.660-83A>C (n.660-83A>C) c.*202+2780A>C (n.*202+2780A>C) | gnomAD v4 |
| 15 | g.43068120A>C | CA2628093771 | UBR1 | c.660-84T>G (n.660-84T>G) c.*202+2779T>G (n.*202+2779T>G) | gnomAD v4 |
| 15 | g.43068120A>G | CA2628093772 | UBR1 | c.660-84T>C (n.660-84T>C) c.*202+2779T>C (n.*202+2779T>C) | gnomAD v4 |
| 15 | g.43068120_43068121insAAAA | CA2628093770 | UBR1 | c.660-84_660-83insTTTT (n.660-84_660-83insTTTT) c.*202+2779_*202+2780insTTTT (n.*202+2779_*202+2780insTTTT) | gnomAD v4 |
| 15 | g.43068121C>A | CA969161587 | UBR1 | c.660-85G>T (n.660-85G>T) c.*202+2778G>T (n.*202+2778G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068121C= | CA2173020250 | UBR1 | c.660-85G= (n.660-85G=) c.*202+2778G= (n.*202+2778G=) | |
| 15 | g.43068121C>G | CA2803932027 | UBR1 | c.660-85G>C (n.660-85G>C) c.*202+2778G>C (n.*202+2778G>C) | |
| 15 | g.43068121C>T | CA969161589 | UBR1 | c.660-85G>A (n.660-85G>A) c.*202+2778G>A (n.*202+2778G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068121_43068123del | CA2628093773 | UBR1 | c.660-87_660-85del (n.660-87_660-85del) c.*202+2776_*202+2778del (n.*202+2776_*202+2778del) | gnomAD v4 |
| 15 | g.43068122A= | CA2173020251 | UBR1 | c.660-86T= (n.660-86T=) c.*202+2777T= (n.*202+2777T=) | |
| 15 | g.43068122A>C | CA2628093774 | UBR1 | c.660-86T>G (n.660-86T>G) c.*202+2777T>G (n.*202+2777T>G) | gnomAD v4 |
| 15 | g.43068122A>G | CA617634745 | UBR1 | c.660-86T>C (n.660-86T>C) c.*202+2777T>C (n.*202+2777T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068123T>A | CA969161592 | UBR1 | c.660-87A>T (n.660-87A>T) c.*202+2776A>T (n.*202+2776A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068123T>C | CA2607735565 | UBR1 | c.660-87A>G (n.660-87A>G) c.*202+2776A>G (n.*202+2776A>G) | gnomAD v4 |
| 15 | g.43068123T>G | CA2628093775 | UBR1 | c.660-87A>C (n.660-87A>C) c.*202+2776A>C (n.*202+2776A>C) | gnomAD v4 |
| 15 | g.43068123T= | CA2173020252 | UBR1 | c.660-87A= (n.660-87A=) c.*202+2776A= (n.*202+2776A=) | |
| 15 | g.43068124A>C | CA2628093776 | UBR1 | c.660-88T>G (n.660-88T>G) c.*202+2775T>G (n.*202+2775T>G) | gnomAD v4 |
| 15 | g.43068125A>C | CA2628093777 | UBR1 | c.660-89T>G (n.660-89T>G) c.*202+2774T>G (n.*202+2774T>G) | gnomAD v4 |
| 15 | g.43068126C>A | CA969161593 | UBR1 | c.660-90G>T (n.660-90G>T) c.*202+2773G>T (n.*202+2773G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068126C= | CA2173020253 | UBR1 | c.660-90G= (n.660-90G=) c.*202+2773G= (n.*202+2773G=) | |
| 15 | g.43068126C>T | CA617634746 | UBR1 | c.660-90G>A (n.660-90G>A) c.*202+2773G>A (n.*202+2773G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |