Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.36803652_36803700delinsAATGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGG | CA2404041491 | PVALB | c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT (n.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT) c.209-2782_209-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT (n.209-2782_209-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT) c.351-2782_351-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT | |
22 | g.36803661_36803664del | CA2404041492 | PVALB | c.305-2738_305-2735del (n.305-2738_305-2735del) c.209-2738_209-2735del (n.209-2738_209-2735del) c.351-2738_351-2735del | dbSNP |
22 | g.36803673_36803720del | CA1025503317 | PVALB | c.305-2782_305-2735del (n.305-2782_305-2735del) c.209-2782_209-2735del (n.209-2782_209-2735del) c.351-2782_351-2735del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803661_36803665delinsATGGG | CA2404041503 | PVALB | c.305-2747_305-2743delinsCCCAT (n.305-2747_305-2743delinsCCCAT) c.209-2747_209-2743delinsCCCAT (n.209-2747_209-2743delinsCCCAT) c.351-2747_351-2743delinsCCCAT | |
22 | g.36803662T>C | CA2738018061 | PVALB | c.305-2744A>G (n.305-2744A>G) c.209-2744A>G (n.209-2744A>G) c.351-2744A>G | dbSNP |
22 | g.36803662T>G | CA1025503337 | PVALB | c.305-2744A>C (n.305-2744A>C) c.209-2744A>C (n.209-2744A>C) c.351-2744A>C | gnomAD v3 gnomAD v4 |
22 | g.36803664_36803665insTTGG | CA639158639 | PVALB | c.305-2744_305-2743insACCA (n.305-2744_305-2743insACCA) c.209-2744_209-2743insACCA (n.209-2744_209-2743insACCA) c.351-2744_351-2743insACCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803673_36803676dup | CA514353147 | PVALB | c.305-2747_305-2744dup (n.305-2747_305-2744dup) c.209-2747_209-2744dup (n.209-2747_209-2744dup) c.351-2747_351-2744dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803673_36803676del | CA639158637 | PVALB | c.305-2747_305-2744del (n.305-2747_305-2744del) c.209-2747_209-2744del (n.209-2747_209-2744del) c.351-2747_351-2744del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803665_36803676del | CA1025503348 | PVALB | c.305-2755_305-2744del (n.305-2755_305-2744del) c.209-2755_209-2744del (n.209-2755_209-2744del) c.351-2755_351-2744del | gnomAD v3 gnomAD v4 |
22 | g.36803669_36803720del | CA1025503350 | PVALB | c.305-2795_305-2744del (n.305-2795_305-2744del) c.209-2795_209-2744del (n.209-2795_209-2744del) c.351-2795_351-2744del | gnomAD v3 gnomAD v4 |
22 | g.36803665_36803720del | CA1025503347 | PVALB | c.305-2799_305-2744del (n.305-2799_305-2744del) c.209-2799_209-2744del (n.209-2799_209-2744del) c.351-2799_351-2744del | gnomAD v3 gnomAD v4 |
22 | g.36803673_36803732del | CA1025503340 | PVALB | c.305-2803_305-2744del (n.305-2803_305-2744del) c.209-2803_209-2744del (n.209-2803_209-2744del) c.351-2803_351-2744del | gnomAD v3 gnomAD v4 |
22 | g.36803664G>A | CA2404041505 | PVALB | c.305-2746C>T (n.305-2746C>T) c.209-2746C>T (n.209-2746C>T) c.351-2746C>T | dbSNP |
22 | g.36803664G= | CA2404041504 | PVALB | c.305-2746C= (n.305-2746C=) c.209-2746C= (n.209-2746C=) c.351-2746C= | |
22 | g.36803665G>A | CA658058446 | PVALB | c.305-2747C>T (n.305-2747C>T) c.209-2747C>T (n.209-2747C>T) c.351-2747C>T | gnomAD v3 gnomAD v4 |
22 | g.36803665G= | CA2404041507 | PVALB | c.305-2747C= (n.305-2747C=) c.209-2747C= (n.209-2747C=) c.351-2747C= | |
22 | g.36803665G>T | CA2404041508 | PVALB | c.305-2747C>A (n.305-2747C>A) c.209-2747C>A (n.209-2747C>A) c.351-2747C>A | dbSNP |
22 | g.36803666_36803667del | CA1025503358 | PVALB | c.305-2748_305-2747del (n.305-2748_305-2747del) c.209-2748_209-2747del (n.209-2748_209-2747del) c.351-2748_351-2747del | gnomAD v3 gnomAD v4 |
22 | g.36803665_36803685delinsGTGGGTGGGTGGATGGATGGA | CA2404041506 | PVALB | c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC (n.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC) c.209-2767_209-2747delinsTCCATCCATCCACCCACCCAC (n.209-2767_209-2747delinsTCCATCCATCCACCCACCCAC) c.351-2767_351-2747delinsTCCATCCATCCACCCACCCAC | |
22 | g.36803666T>G | CA1025503371 | PVALB | c.305-2748A>C (n.305-2748A>C) c.209-2748A>C (n.209-2748A>C) c.351-2748A>C | gnomAD v3 gnomAD v4 |
22 | g.36803669_36803688del | CA752872625 | PVALB | c.305-2767_305-2748del (n.305-2767_305-2748del) c.209-2767_209-2748del (n.209-2767_209-2748del) c.351-2767_351-2748del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803681_36803736del | CA1025503367 | PVALB | c.305-2803_305-2748del (n.305-2803_305-2748del) c.209-2803_209-2748del (n.209-2803_209-2748del) c.351-2803_351-2748del | gnomAD v3 gnomAD v4 |
22 | g.36803667G= | CA2404041509 | PVALB | c.305-2749C= (n.305-2749C=) c.209-2749C= (n.209-2749C=) c.351-2749C= | |
22 | g.36803667G>T | CA2404041510 | PVALB | c.305-2749C>A (n.305-2749C>A) c.209-2749C>A (n.209-2749C>A) c.351-2749C>A | dbSNP |
22 | g.36803669G>A | CA2404041512 | PVALB | c.305-2751C>T (n.305-2751C>T) c.209-2751C>T (n.209-2751C>T) c.351-2751C>T | dbSNP |
22 | g.36803669G= | CA2404041511 | PVALB | c.305-2751C= (n.305-2751C=) c.209-2751C= (n.209-2751C=) c.351-2751C= | |
22 | g.36803670T>G | CA1025503375 | PVALB | c.305-2752A>C (n.305-2752A>C) c.209-2752A>C (n.209-2752A>C) c.351-2752A>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803670T= | CA2404041513 | PVALB | c.305-2752A= (n.305-2752A=) c.209-2752A= (n.209-2752A=) c.351-2752A= | |
22 | g.36803673_36803688del | CA1025503378 | PVALB | c.305-2767_305-2752del (n.305-2767_305-2752del) c.209-2767_209-2752del (n.209-2767_209-2752del) c.351-2767_351-2752del | gnomAD v3 gnomAD v4 |
22 | g.36803672G>A | CA1025503380 | PVALB | c.305-2754C>T (n.305-2754C>T) c.209-2754C>T (n.209-2754C>T) c.351-2754C>T | gnomAD v3 gnomAD v4 |
22 | g.36803672_36803681del | CA1025503379 | PVALB | c.305-2763_305-2754del (n.305-2763_305-2754del) c.209-2763_209-2754del (n.209-2763_209-2754del) c.351-2763_351-2754del | gnomAD v3 gnomAD v4 |
22 | g.36803672_36803673insAT | CA1025503383 | PVALB | c.305-2755_305-2754insAT (n.305-2755_305-2754insAT) c.209-2755_209-2754insAT (n.209-2755_209-2754insAT) c.351-2755_351-2754insAT | gnomAD v3 gnomAD v4 |
22 | g.36803673G>A | CA323990094 | PVALB | c.305-2755C>T (n.305-2755C>T) c.209-2755C>T (n.209-2755C>T) c.351-2755C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803673G= | CA2404041514 | PVALB | c.305-2755C= (n.305-2755C=) c.209-2755C= (n.209-2755C=) c.351-2755C= | |
22 | g.36803673G>T | CA752872632 | PVALB | c.305-2755C>A (n.305-2755C>A) c.209-2755C>A (n.209-2755C>A) c.351-2755C>A | dbSNP |
22 | g.36803673_36803701delinsGTGGATGGATGGATGGATGGATGGATGGA | CA2404041515 | PVALB | c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC (n.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC) c.209-2783_209-2755delinsTCCATCCATCCATCCATCCATCCATCCAC (n.209-2783_209-2755delinsTCCATCCATCCATCCATCCATCCATCCAC) c.351-2783_351-2755delinsTCCATCCATCCATCCATCCATCCATCCAC | |
22 | g.36803673_36803674insGA | CA1025503408 | PVALB | c.305-2756_305-2755insTC (n.305-2756_305-2755insTC) c.209-2756_209-2755insTC (n.209-2756_209-2755insTC) c.351-2756_351-2755insTC | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803673_36803674insGGGA | CA752872666 | PVALB | c.305-2756_305-2755insTCCC (n.305-2756_305-2755insTCCC) c.209-2756_209-2755insTCCC (n.209-2756_209-2755insTCCC) c.351-2756_351-2755insTCCC | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803676_36803677insGTGGATGG | CA752872662 | PVALB | c.305-2756_305-2755insTCCACCCA (n.305-2756_305-2755insTCCACCCA) c.209-2756_209-2755insTCCACCCA (n.209-2756_209-2755insTCCACCCA) c.351-2756_351-2755insTCCACCCA | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803709_36803712dup | CA323990096 | PVALB | c.305-2759_305-2756dup (n.305-2759_305-2756dup) c.209-2759_209-2756dup (n.209-2759_209-2756dup) c.351-2759_351-2756dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803705_36803712dup | CA514353149 | PVALB | c.305-2763_305-2756dup (n.305-2763_305-2756dup) c.209-2763_209-2756dup (n.209-2763_209-2756dup) c.351-2763_351-2756dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803701_36803712dup | CA639158643 | PVALB | c.305-2767_305-2756dup (n.305-2767_305-2756dup) c.209-2767_209-2756dup (n.209-2767_209-2756dup) c.351-2767_351-2756dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803697_36803712dup | CA1025503404 | PVALB | c.305-2771_305-2756dup (n.305-2771_305-2756dup) c.209-2771_209-2756dup (n.209-2771_209-2756dup) c.351-2771_351-2756dup | gnomAD v3 gnomAD v4 |
22 | g.36803709_36803712del | CA639158642 | PVALB | c.305-2759_305-2756del (n.305-2759_305-2756del) c.209-2759_209-2756del (n.209-2759_209-2756del) c.351-2759_351-2756del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803705_36803712del | CA752872660 | PVALB | c.305-2763_305-2756del (n.305-2763_305-2756del) c.209-2763_209-2756del (n.209-2763_209-2756del) c.351-2763_351-2756del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803701_36803712del | CA323990097 | PVALB | c.305-2767_305-2756del (n.305-2767_305-2756del) c.209-2767_209-2756del (n.209-2767_209-2756del) c.351-2767_351-2756del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803697_36803712del | CA639158641 | PVALB | c.305-2771_305-2756del (n.305-2771_305-2756del) c.209-2771_209-2756del (n.209-2771_209-2756del) c.351-2771_351-2756del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36803693_36803712del | CA752872654 | PVALB | c.305-2775_305-2756del (n.305-2775_305-2756del) c.209-2775_209-2756del (n.209-2775_209-2756del) c.351-2775_351-2756del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.36803685_36803712del | CA752872651 | PVALB | c.305-2783_305-2756del (n.305-2783_305-2756del) c.209-2783_209-2756del (n.209-2783_209-2756del) c.351-2783_351-2756del | dbSNP gnomAD v3 gnomAD v4 |