| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44377672C>T | CA2638216546 | ITGA2B | c.2187+26G>A (n.2187+26G>A) c.1618+26G>A n.982+26G>A | gnomAD v4 |
| 17 | g.44377673C= | CA2261366852 | ITGA2B | c.2187+25G= (n.2187+25G=) c.1618+25G= n.982+25G= | |
| 17 | g.44377673C>G | CA8602798 | ITGA2B | c.2187+25G>C (n.2187+25G>C) c.1618+25G>C n.982+25G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44377673C>T | CA8602797 | ITGA2B | c.2187+25G>A (n.2187+25G>A) c.1618+25G>A n.982+25G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44377674G>A | CA8602799 | ITGA2B | c.2187+24C>T (n.2187+24C>T) c.1618+24C>T n.982+24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44377674G= | CA2261366853 | ITGA2B | c.2187+24C= (n.2187+24C=) c.1618+24C= n.982+24C= | |
| 17 | g.44377674G>T | CA2638216552 | ITGA2B | c.2187+24C>A (n.2187+24C>A) c.1618+24C>A n.982+24C>A | gnomAD v4 |
| 17 | g.44377675G>A | CA983996298 | ITGA2B | c.2187+23C>T (n.2187+23C>T) c.1618+23C>T n.982+23C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44377675G>C | CA2638216554 | ITGA2B | c.2187+23C>G (n.2187+23C>G) c.1618+23C>G n.982+23C>G | gnomAD v4 |
| 17 | g.44377675G= | CA2261366854 | ITGA2B | c.2187+23C= (n.2187+23C=) c.1618+23C= n.982+23C= | |
| 17 | g.44377675G>T | CA2638216556 | ITGA2B | c.2187+23C>A (n.2187+23C>A) c.1618+23C>A n.982+23C>A | gnomAD v4 |
| 17 | g.44377676T>C | CA2576291239 | ITGA2B | c.2187+22A>G (n.2187+22A>G) c.1618+22A>G n.982+22A>G | |
| 17 | g.44377679_44377681del | CA2638216557 | ITGA2B | c.2187+19_2187+21del (n.2187+19_2187+21del) c.1618+19_1618+21del n.982+19_982+21del | gnomAD v4 |
| 17 | g.44377678C= | CA2261366855 | ITGA2B | c.2187+20G= (n.2187+20G=) c.1618+20G= n.982+20G= | |
| 17 | g.44377678C>G | CA2580094049 | ITGA2B | c.2187+20G>C (n.2187+20G>C) c.1618+20G>C n.982+20G>C | ClinVar |
| 17 | g.44377678C>T | CA626120491 | ITGA2B | c.2187+20G>A (n.2187+20G>A) c.1618+20G>A n.982+20G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44377679del | CA2638216558 | ITGA2B | c.2187+20del (n.2187+20del) c.1618+20del n.982+20del | gnomAD v4 |
| 17 | g.44377680A>C | CA2576291240 | ITGA2B | c.2187+18T>G (n.2187+18T>G) c.1618+18T>G n.982+18T>G | gnomAD v4 |
| 17 | g.44377681C= | CA2261366856 | ITGA2B | c.2187+17G= (n.2187+17G=) c.1618+17G= n.982+17G= | |
| 17 | g.44377681C>G | CA2638216561 | ITGA2B | c.2187+17G>C (n.2187+17G>C) c.1618+17G>C n.982+17G>C | gnomAD v4 |
| 17 | g.44377681C>T | CA8602800 | ITGA2B | c.2187+17G>A (n.2187+17G>A) c.1618+17G>A n.982+17G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44377682G>A | CA8602801 | ITGA2B | c.2187+16C>T (n.2187+16C>T) c.1618+16C>T n.982+16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44377682G= | CA2261366857 | ITGA2B | c.2187+16C= (n.2187+16C=) c.1618+16C= n.982+16C= | |
| 17 | g.44377682G>T | CA2576291241 | ITGA2B | c.2187+16C>A (n.2187+16C>A) c.1618+16C>A n.982+16C>A | gnomAD v4 |
| 17 | g.44377683del | CA2638216566 | ITGA2B | c.2187+15del (n.2187+15del) c.1618+15del n.982+15del | gnomAD v4 |
| 17 | g.44377684C= | CA2261366858 | ITGA2B | c.2187+14G= (n.2187+14G=) c.1618+14G= n.982+14G= | |
| 17 | g.44377684C>T | CA983996301 | ITGA2B | c.2187+14G>A (n.2187+14G>A) c.1618+14G>A n.982+14G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44377686del | CA2576291243 | ITGA2B | c.2187+14del (n.2187+14del) c.1618+14del n.982+14del | gnomAD v4 |
| 17 | g.44377685C>T | CA2638216569 | ITGA2B | c.2187+13G>A (n.2187+13G>A) c.1618+13G>A n.982+13G>A | dbSNP gnomAD v4 |
| 17 | g.44377686C>T | CA2638216571 | ITGA2B | c.2187+12G>A (n.2187+12G>A) c.1618+12G>A n.982+12G>A | gnomAD v4 |
| 17 | g.44377687A>T | CA2576291244 | ITGA2B | c.2187+11T>A (n.2187+11T>A) c.1618+11T>A n.982+11T>A | |
| 17 | g.44377688G>A | CA2638216573 | ITGA2B | c.2187+10C>T (n.2187+10C>T) c.1618+10C>T n.982+10C>T | gnomAD v4 |
| 17 | g.44377689C>T | CA2638216574 | ITGA2B | c.2187+9G>A (n.2187+9G>A) c.1618+9G>A n.982+9G>A | gnomAD v4 |
| 17 | g.44377689_44377690insTTTTTT | CA983996307 | ITGA2B | c.2187+8_2187+9insAAAAAA (n.2187+8_2187+9insAAAAAA) c.1618+8_1618+9insAAAAAA n.982+8_982+9insAAAAAA | gnomAD v3 gnomAD v4 |
| 17 | g.44377690_44377691insATGATACG | CA983996312 | ITGA2B | c.2187+7_2187+8insCGTATCAT (n.2187+7_2187+8insCGTATCAT) c.1618+7_1618+8insCGTATCAT n.982+7_982+8insCGTATCAT | gnomAD v3 gnomAD v4 |
| 17 | g.44377691G>A | CA2638216575 | ITGA2B | c.2187+7C>T (n.2187+7C>T) c.1618+7C>T n.982+7C>T | gnomAD v4 |
| 17 | g.44377692C>A | CA8602802 | ITGA2B | c.2187+6G>T (n.2187+6G>T) c.1618+6G>T n.982+6G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44377692C= | CA2261366859 | ITGA2B | c.2187+6G= (n.2187+6G=) c.1618+6G= n.982+6G= | |
| 17 | g.44377692C>T | CA2261366860 | ITGA2B | c.2187+6G>A (n.2187+6G>A) c.1618+6G>A n.982+6G>A | dbSNP gnomAD v4 |
| 17 | g.44377692_44377693insGA | CA983996322 | ITGA2B | c.2187+5_2187+6insTC (n.2187+5_2187+6insTC) c.1618+5_1618+6insTC n.982+5_982+6insTC | gnomAD v3 gnomAD v4 |
| 17 | g.44377693C>A | CA2570179317 | ITGA2B | c.2187+5G>T (n.2187+5G>T) c.1618+5G>T n.982+5G>T | |
| 17 | g.44377693C>G | CA2638216578 | ITGA2B | c.2187+5G>C (n.2187+5G>C) c.1618+5G>C n.982+5G>C | gnomAD v4 |
| 17 | g.44377694del | CA983996325 | ITGA2B | c.2187+4del (n.2187+4del) c.1618+4del n.982+4del | gnomAD v3 gnomAD v4 |
| 17 | g.44377694T>C | CA2638216580 | ITGA2B | c.2187+4A>G (n.2187+4A>G) c.1618+4A>G n.982+4A>G | gnomAD v4 |
| 17 | g.44377695C>T | CA2638216581 | ITGA2B | c.2187+3G>A (n.2187+3G>A) c.1618+3G>A n.982+3G>A | gnomAD v4 |
| 17 | g.44377696A>C | CA399798776 | ITGA2B | c.2187+2T>G (n.2187+2T>G) c.1618+2T>G n.982+2T>G | |
| 17 | g.44377696A>G | CA399798779 | ITGA2B | c.2187+2T>C (n.2187+2T>C) c.1618+2T>C n.982+2T>C | |
| 17 | g.44377696A>T | CA399798781 | ITGA2B | c.2187+2T>A (n.2187+2T>A) c.1618+2T>A n.982+2T>A | |
| 17 | g.44377697C>A | CA399798789 | ITGA2B | c.2187+1G>T (n.2187+1G>T) c.1618+1G>T n.982+1G>T | |
| 17 | g.44377697C>G | CA399798787 | ITGA2B | c.2187+1G>C (n.2187+1G>C) c.1618+1G>C n.982+1G>C |