| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
| 2 | g.189005414G>A | CA349844796 | COL3A1 | c.2897G>A (p.Gly966Asp) c.2996G>A (p.Gly999Asp) c.2527+2378G>A (n.2527+2378G>A) | ClinVar |
| 2 | g.189005414G>C | CA349844798 | COL3A1 | c.2897G>C (p.Gly966Ala) c.2996G>C (p.Gly999Ala) c.2527+2378G>C (n.2527+2378G>C) | |
| 2 | g.189005414G= | CA1315403670 | COL3A1 | c.2897G= (p.Gly966=) c.2996G= (p.Gly999=) c.2527+2378G= (n.2527+2378G=) | |
| 2 | g.189005414G>T | CA349844797 | COL3A1 | c.2897G>T (p.Gly966Val) c.2996G>T (p.Gly999Val) c.2527+2378G>T (n.2527+2378G>T) | ClinVar dbSNP |
| 2 | g.189005415T>A | CA430312553 | COL3A1 | c.2898T>A (p.Gly966=) c.2997T>A (p.Gly999=) c.2527+2379T>A (n.2527+2379T>A) | |
| 2 | g.189005415T>C | CA430312554 | COL3A1 | c.2898T>C (p.Gly966=) c.2997T>C (p.Gly999=) c.2527+2379T>C (n.2527+2379T>C) | |
| 2 | g.189005415T>G | CA430312557 | COL3A1 | c.2898T>G (p.Gly966=) c.2997T>G (p.Gly999=) c.2527+2379T>G (n.2527+2379T>G) | |
| 2 | g.189005416C>A | CA349844799 | COL3A1 | c.2899C>A (p.Leu967Ile) c.2998C>A (p.Leu1000Ile) c.2527+2380C>A (n.2527+2380C>A) | |
| 2 | g.189005416C>G | CA349844800 | COL3A1 | c.2899C>G (p.Leu967Val) c.2998C>G (p.Leu1000Val) c.2527+2380C>G (n.2527+2380C>G) | |
| 2 | g.189005416C>T | CA349844801 | COL3A1 | c.2899C>T (p.Leu967Phe) c.2998C>T (p.Leu1000Phe) c.2527+2380C>T (n.2527+2380C>T) | gnomAD v4 |
| 2 | g.189005417T>A | CA349844802 | COL3A1 | c.2900T>A (p.Leu967His) c.2999T>A (p.Leu1000His) c.2527+2381T>A (n.2527+2381T>A) | |
| 2 | g.189005417T>C | CA349844803 | COL3A1 | c.2900T>C (p.Leu967Pro) c.2999T>C (p.Leu1000Pro) c.2527+2381T>C (n.2527+2381T>C) | |
| 2 | g.189005417T>G | CA349844804 | COL3A1 | c.2900T>G (p.Leu967Arg) c.2999T>G (p.Leu1000Arg) c.2527+2381T>G (n.2527+2381T>G) | |
| 2 | g.189005418T>A | CA430312559 | COL3A1 | c.2901T>A (p.Leu967=) c.3000T>A (p.Leu1000=) c.2527+2382T>A (n.2527+2382T>A) | |
| 2 | g.189005418T>C | CA430312561 | COL3A1 | c.2901T>C (p.Leu967=) c.3000T>C (p.Leu1000=) c.2527+2382T>C (n.2527+2382T>C) | |
| 2 | g.189005418T>G | CA430312564 | COL3A1 | c.2901T>G (p.Leu967=) c.3000T>G (p.Leu1000=) c.2527+2382T>G (n.2527+2382T>G) | |
| 2 | g.189005419C>A | CA349844805 | COL3A1 | c.2902C>A (p.Pro968Thr) c.3001C>A (p.Pro1001Thr) c.2527+2383C>A (n.2527+2383C>A) | |
| 2 | g.189005419C= | CA1315403671 | COL3A1 | c.2902C= (p.Pro968=) c.3001C= (p.Pro1001=) c.2527+2383C= (n.2527+2383C=) | |
| 2 | g.189005419C>G | CA075771 | COL3A1 | c.2902C>G (p.Pro968Ala) c.3001C>G (p.Pro1001Ala) c.2527+2383C>G (n.2527+2383C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189005419C>T | CA349844806 | COL3A1 | c.2902C>T (p.Pro968Ser) c.3001C>T (p.Pro1001Ser) c.2527+2383C>T (n.2527+2383C>T) | ClinVar dbSNP COSMIC |
| 2 | g.189005420C>A | CA349844808 | COL3A1 | c.2903C>A (p.Pro968His) c.3002C>A (p.Pro1001His) c.2527+2384C>A (n.2527+2384C>A) | |
| 2 | g.189005420C>G | CA349844809 | COL3A1 | c.2903C>G (p.Pro968Arg) c.3002C>G (p.Pro1001Arg) c.2527+2384C>G (n.2527+2384C>G) | |
| 2 | g.189005420C>T | CA349844807 | COL3A1 | c.2903C>T (p.Pro968Leu) c.3002C>T (p.Pro1001Leu) c.2527+2384C>T (n.2527+2384C>T) | gnomAD v4 |
| 2 | g.189005421T>A | CA430312565 | COL3A1 | c.2904T>A (p.Pro968=) c.3003T>A (p.Pro1001=) c.2527+2385T>A (n.2527+2385T>A) | |
| 2 | g.189005421T>C | CA430312566 | COL3A1 | c.2904T>C (p.Pro968=) c.3003T>C (p.Pro1001=) c.2527+2385T>C (n.2527+2385T>C) | |
| 2 | g.189005421T>G | CA430312567 | COL3A1 | c.2904T>G (p.Pro968=) c.3003T>G (p.Pro1001=) c.2527+2385T>G (n.2527+2385T>G) | |
| 2 | g.189005422G>A | CA349844810 | COL3A1 | c.2905G>A (p.Gly969Ser) c.3004G>A (p.Gly1002Ser) c.2527+2386G>A (n.2527+2386G>A) | |
| 2 | g.189005422G>C | CA349844811 | COL3A1 | c.2905G>C (p.Gly969Arg) c.3004G>C (p.Gly1002Arg) c.2527+2386G>C (n.2527+2386G>C) | |
| 2 | g.189005422G>T | CA349844812 | COL3A1 | c.2905G>T (p.Gly969Cys) c.3004G>T (p.Gly1002Cys) c.2527+2386G>T (n.2527+2386G>T) | |
| 2 | g.189005423G>A | CA349844813 | COL3A1 | c.2906G>A (p.Gly969Asp) c.3005G>A (p.Gly1002Asp) c.2527+2387G>A (n.2527+2387G>A) | |
| 2 | g.189005423G>C | CA349844814 | COL3A1 | c.2906G>C (p.Gly969Ala) c.3005G>C (p.Gly1002Ala) c.2527+2387G>C (n.2527+2387G>C) | |
| 2 | g.189005423G>T | CA349844815 | COL3A1 | c.2906G>T (p.Gly969Val) c.3005G>T (p.Gly1002Val) c.2527+2387G>T (n.2527+2387G>T) | |
| 2 | g.189005424T>A | CA430312576 | COL3A1 | c.2907T>A (p.Gly969=) c.3006T>A (p.Gly1002=) c.2527+2388T>A (n.2527+2388T>A) | |
| 2 | g.189005424T>C | CA430312577 | COL3A1 | c.2907T>C (p.Gly969=) c.3006T>C (p.Gly1002=) c.2527+2388T>C (n.2527+2388T>C) | ClinVar |
| 2 | g.189005424T>G | CA430312575 | COL3A1 | c.2907T>G (p.Gly969=) c.3006T>G (p.Gly1002=) c.2527+2388T>G (n.2527+2388T>G) | |
| 2 | g.189005425C>A | CA349844816 | COL3A1 | c.2908C>A (p.Leu970Met) c.3007C>A (p.Leu1003Met) c.2527+2389C>A (n.2527+2389C>A) | |
| 2 | g.189005425C= | CA1315403672 | COL3A1 | c.2908C= (p.Leu970=) c.3007C= (p.Leu1003=) c.2527+2389C= (n.2527+2389C=) | |
| 2 | g.189005425C>G | CA62558465 | COL3A1 | c.2908C>G (p.Leu970Val) c.3007C>G (p.Leu1003Val) c.2527+2389C>G (n.2527+2389C>G) | dbSNP |
| 2 | g.189005425C>T | CA62558474 | COL3A1 | c.2908C>T (p.Leu970=) c.3007C>T (p.Leu1003=) c.2527+2389C>T (n.2527+2389C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189005426T>A | CA349844817 | COL3A1 | c.2909T>A (p.Leu970Gln) c.3008T>A (p.Leu1003Gln) c.2527+2390T>A (n.2527+2390T>A) | |
| 2 | g.189005426T>C | CA349844818 | COL3A1 | c.2909T>C (p.Leu970Pro) c.3008T>C (p.Leu1003Pro) c.2527+2390T>C (n.2527+2390T>C) | ClinVar dbSNP |
| 2 | g.189005426T>G | CA349844819 | COL3A1 | c.2909T>G (p.Leu970Arg) c.3008T>G (p.Leu1003Arg) c.2527+2390T>G (n.2527+2390T>G) | |
| 2 | g.189005426T= | CA1315403673 | COL3A1 | c.2909T= (p.Leu970=) c.3008T= (p.Leu1003=) c.2527+2390T= (n.2527+2390T=) | |
| 2 | g.189005427G>A | CA430312580 | COL3A1 | c.2910G>A (p.Leu970=) c.3009G>A (p.Leu1003=) c.2527+2391G>A (n.2527+2391G>A) | ClinVar |
| 2 | g.189005427G>C | CA430312579 | COL3A1 | c.2910G>C (p.Leu970=) c.3009G>C (p.Leu1003=) c.2527+2391G>C (n.2527+2391G>C) | |
| 2 | g.189005427G= | CA1315403674 | COL3A1 | c.2910G= (p.Leu970=) c.3009G= (p.Leu1003=) c.2527+2391G= (n.2527+2391G=) | |
| 2 | g.189005427G>T | CA075773 | COL3A1 | c.2910G>T (p.Leu970=) c.3009G>T (p.Leu1003=) c.2527+2391G>T (n.2527+2391G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |