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.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 |
2 | g.189005428G>A | CA349844821 | COL3A1 | c.2911G>A (p.Ala971Thr) c.3010G>A (p.Ala1004Thr) c.2527+2392G>A (n.2527+2392G>A) | |
2 | g.189005428G>C | CA349844820 | COL3A1 | c.2911G>C (p.Ala971Pro) c.3010G>C (p.Ala1004Pro) c.2527+2392G>C (n.2527+2392G>C) | |
2 | g.189005428G= | CA1315403675 | COL3A1 | c.2911G= (p.Ala971=) c.3010G= (p.Ala1004=) c.2527+2392G= (n.2527+2392G=) | |
2 | g.189005428G>T | CA075776 | COL3A1 | c.2911G>T (p.Ala971Ser) c.3010G>T (p.Ala1004Ser) c.2527+2392G>T (n.2527+2392G>T) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.189005429C>A | CA349844822 | COL3A1 | c.2912C>A (p.Ala971Asp) c.3011C>A (p.Ala1004Asp) c.2527+2393C>A (n.2527+2393C>A) | |
2 | g.189005429C>G | CA349844823 | COL3A1 | c.2912C>G (p.Ala971Gly) c.3011C>G (p.Ala1004Gly) c.2527+2393C>G (n.2527+2393C>G) | |
2 | g.189005429C>T | CA349844824 | COL3A1 | c.2912C>T (p.Ala971Val) c.3011C>T (p.Ala1004Val) c.2527+2393C>T (n.2527+2393C>T) | |
2 | g.189005430T>A | CA430312593 | COL3A1 | c.2913T>A (p.Ala971=) c.3012T>A (p.Ala1004=) c.2527+2394T>A (n.2527+2394T>A) | |
2 | g.189005430T>C | CA430312586 | COL3A1 | c.2913T>C (p.Ala971=) c.3012T>C (p.Ala1004=) c.2527+2394T>C (n.2527+2394T>C) | |
2 | g.189005430T>G | CA430312587 | COL3A1 | c.2913T>G (p.Ala971=) c.3012T>G (p.Ala1004=) c.2527+2394T>G (n.2527+2394T>G) | |
2 | g.189005431G>A | CA349844825 | COL3A1 | c.2914G>A (p.Gly972Ser) c.3013G>A (p.Gly1005Ser) c.2527+2395G>A (n.2527+2395G>A) | |
2 | g.189005431G>C | CA349844826 | COL3A1 | c.2914G>C (p.Gly972Arg) c.3013G>C (p.Gly1005Arg) c.2527+2395G>C (n.2527+2395G>C) | |
2 | g.189005431G>T | CA349844827 | COL3A1 | c.2914G>T (p.Gly972Cys) c.3013G>T (p.Gly1005Cys) c.2527+2395G>T (n.2527+2395G>T) | |
2 | g.189005432G>A | CA349844828 | COL3A1 | c.2915G>A (p.Gly972Asp) c.3014G>A (p.Gly1005Asp) c.2527+2396G>A (n.2527+2396G>A) | |
2 | g.189005432G>C | CA349844829 | COL3A1 | c.2915G>C (p.Gly972Ala) c.3014G>C (p.Gly1005Ala) c.2527+2396G>C (n.2527+2396G>C) | ClinVar |
2 | g.189005432G>T | CA349844830 | COL3A1 | c.2915G>T (p.Gly972Val) c.3014G>T (p.Gly1005Val) c.2527+2396G>T (n.2527+2396G>T) | |
2 | g.189005433T>A | CA430312594 | COL3A1 | c.2916T>A (p.Gly972=) c.3015T>A (p.Gly1005=) c.2527+2397T>A (n.2527+2397T>A) | |
2 | g.189005433T>C | CA430312596 | COL3A1 | c.2916T>C (p.Gly972=) c.3015T>C (p.Gly1005=) c.2527+2397T>C (n.2527+2397T>C) | |
2 | g.189005433T>G | CA430312598 | COL3A1 | c.2916T>G (p.Gly972=) c.3015T>G (p.Gly1005=) c.2527+2397T>G (n.2527+2397T>G) | |
2 | g.189005434A= | CA1315403676 | COL3A1 | c.2917A= (p.Thr973=) c.3016A= (p.Thr1006=) c.2527+2398A= (n.2527+2398A=) | |
2 | g.189005434A>C | CA349844831 | COL3A1 | c.2917A>C (p.Thr973Pro) c.3016A>C (p.Thr1006Pro) c.2527+2398A>C (n.2527+2398A>C) | |
2 | g.189005434A>G | CA349844832 | COL3A1 | c.2917A>G (p.Thr973Ala) c.3016A>G (p.Thr1006Ala) c.2527+2398A>G (n.2527+2398A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189005434A>T | CA349844833 | COL3A1 | c.2917A>T (p.Thr973Ser) c.3016A>T (p.Thr1006Ser) c.2527+2398A>T (n.2527+2398A>T) | |
2 | g.189005435C>A | CA349844836 | COL3A1 | c.2918C>A (p.Thr973Lys) c.3017C>A (p.Thr1006Lys) c.2527+2399C>A (n.2527+2399C>A) | |
2 | g.189005435C>G | CA349844835 | COL3A1 | c.2918C>G (p.Thr973Arg) c.3017C>G (p.Thr1006Arg) c.2527+2399C>G (n.2527+2399C>G) | |
2 | g.189005435C>T | CA349844834 | COL3A1 | c.2918C>T (p.Thr973Ile) c.3017C>T (p.Thr1006Ile) c.2527+2399C>T (n.2527+2399C>T) | gnomAD v4 |
2 | g.189005436A>C | CA430312607 | COL3A1 | c.2919A>C (p.Thr973=) c.3018A>C (p.Thr1006=) c.2527+2400A>C (n.2527+2400A>C) | |
2 | g.189005436A>G | CA430312608 | COL3A1 | c.2919A>G (p.Thr973=) c.3018A>G (p.Thr1006=) c.2527+2400A>G (n.2527+2400A>G) | |
2 | g.189005436A>T | CA430312609 | COL3A1 | c.2919A>T (p.Thr973=) c.3018A>T (p.Thr1006=) c.2527+2400A>T (n.2527+2400A>T) | gnomAD v4 COSMIC |
2 | g.189005437G>A | CA005942 | COL3A1 | c.2920G>A (p.Ala974Thr) c.3019G>A (p.Ala1007Thr) c.2527+2401G>A (n.2527+2401G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189005437G>C | CA349844838 | COL3A1 | c.2920G>C (p.Ala974Pro) c.3019G>C (p.Ala1007Pro) c.2527+2401G>C (n.2527+2401G>C) | |
2 | g.189005437G= | CA1315403677 | COL3A1 | c.2920G= (p.Ala974=) c.3019G= (p.Ala1007=) c.2527+2401G= (n.2527+2401G=) | |
2 | g.189005437G>T | CA349844837 | COL3A1 | c.2920G>T (p.Ala974Ser) c.3019G>T (p.Ala1007Ser) c.2527+2401G>T (n.2527+2401G>T) | |
2 | g.189005438C>A | CA349844839 | COL3A1 | c.2921C>A (p.Ala974Asp) c.3020C>A (p.Ala1007Asp) c.2527+2402C>A (n.2527+2402C>A) | |
2 | g.189005438C>G | CA349844841 | COL3A1 | c.2921C>G (p.Ala974Gly) c.3020C>G (p.Ala1007Gly) c.2527+2402C>G (n.2527+2402C>G) | |
2 | g.189005438C>T | CA349844840 | COL3A1 | c.2921C>T (p.Ala974Val) c.3020C>T (p.Ala1007Val) c.2527+2402C>T (n.2527+2402C>T) | gnomAD v4 |
2 | g.189005439T>A | CA430312616 | COL3A1 | c.2922T>A (p.Ala974=) c.3021T>A (p.Ala1007=) c.2527+2403T>A (n.2527+2403T>A) | |
2 | g.189005439T>C | CA430312617 | COL3A1 | c.2922T>C (p.Ala974=) c.3021T>C (p.Ala1007=) c.2527+2403T>C (n.2527+2403T>C) | |
2 | g.189005439T>G | CA430312618 | COL3A1 | c.2922T>G (p.Ala974=) c.3021T>G (p.Ala1007=) c.2527+2403T>G (n.2527+2403T>G) | |
2 | g.189005440G>A | CA349844842 | COL3A1 | c.2923G>A (p.Gly975Ser) c.3022G>A (p.Gly1008Ser) c.2527+2404G>A (n.2527+2404G>A) | |
2 | g.189005440G>C | CA349844843 | COL3A1 | c.2923G>C (p.Gly975Arg) c.3022G>C (p.Gly1008Arg) c.2527+2404G>C (n.2527+2404G>C) | |
2 | g.189005440G>T | CA349844844 | COL3A1 | c.2923G>T (p.Gly975Cys) c.3022G>T (p.Gly1008Cys) c.2527+2404G>T (n.2527+2404G>T) | |
2 | g.189005441G>A | CA005947 | COL3A1 | c.2924G>A (p.Gly975Asp) c.3023G>A (p.Gly1008Asp) c.2527+2405G>A (n.2527+2405G>A) | ClinVar dbSNP COSMIC |
2 | g.189005441G>C | CA349844845 | COL3A1 | c.2924G>C (p.Gly975Ala) c.3023G>C (p.Gly1008Ala) c.2527+2405G>C (n.2527+2405G>C) | |
2 | g.189005441G= | CA1315403678 | COL3A1 | c.2924G= (p.Gly975=) c.3023G= (p.Gly1008=) c.2527+2405G= (n.2527+2405G=) | |
2 | g.189005441G>T | CA349844846 | COL3A1 | c.2924G>T (p.Gly975Val) c.3023G>T (p.Gly1008Val) c.2527+2405G>T (n.2527+2405G>T) | |
2 | g.189005442T>A | CA430312623 | COL3A1 | c.2925T>A (p.Gly975=) c.3024T>A (p.Gly1008=) c.2527+2406T>A (n.2527+2406T>A) | |
2 | g.189005442T>C | CA430312624 | COL3A1 | c.2925T>C (p.Gly975=) c.3024T>C (p.Gly1008=) c.2527+2406T>C (n.2527+2406T>C) | |
2 | g.189005442T>G | CA430312625 | COL3A1 | c.2925T>G (p.Gly975=) c.3024T>G (p.Gly1008=) c.2527+2406T>G (n.2527+2406T>G) | |
2 | g.189005443G>A | CA349844847 | COL3A1 | c.2926G>A (p.Glu976Lys) c.3025G>A (p.Glu1009Lys) c.2527+2407G>A (n.2527+2407G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005443G>C | CA349844848 | COL3A1 | c.2926G>C (p.Glu976Gln) c.3025G>C (p.Glu1009Gln) c.2527+2407G>C (n.2527+2407G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005443G= | CA1315403679 | COL3A1 | c.2926G= (p.Glu976=) c.3025G= (p.Glu1009=) c.2527+2407G= (n.2527+2407G=) | |
2 | g.189005443G>T | CA349844849 | COL3A1 | c.2926G>T (p.Glu976Ter) c.3025G>T (p.Glu1009Ter) c.2527+2407G>T (n.2527+2407G>T) | ClinVar |
2 | g.189005444A>C | CA349844850 | COL3A1 | c.2927A>C (p.Glu976Ala) c.3026A>C (p.Glu1009Ala) c.2527+2408A>C (n.2527+2408A>C) | |
2 | g.189005444A>G | CA349844851 | COL3A1 | c.2927A>G (p.Glu976Gly) c.3026A>G (p.Glu1009Gly) c.2527+2408A>G (n.2527+2408A>G) | |
2 | g.189005444A>T | CA349844852 | COL3A1 | c.2927A>T (p.Glu976Val) c.3026A>T (p.Glu1009Val) c.2527+2408A>T (n.2527+2408A>T) | |
2 | g.189005445A= | CA1315403680 | COL3A1 | c.2928A= (p.Glu976=) c.3027A= (p.Glu1009=) c.2527+2409A= (n.2527+2409A=) | |
2 | g.189005445A>C | CA349844854 | COL3A1 | c.2928A>C (p.Glu976Asp) c.3027A>C (p.Glu1009Asp) c.2527+2409A>C (n.2527+2409A>C) | COSMIC |
2 | g.189005445A>G | CA430312632 | COL3A1 | c.2928A>G (p.Glu976=) c.3027A>G (p.Glu1009=) c.2527+2409A>G (n.2527+2409A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189005445A>T | CA349844853 | COL3A1 | c.2928A>T (p.Glu976Asp) c.3027A>T (p.Glu1009Asp) c.2527+2409A>T (n.2527+2409A>T) | gnomAD v4 |
2 | g.189005446C>A | CA349844855 | COL3A1 | c.2929C>A (p.Pro977Thr) c.3028C>A (p.Pro1010Thr) c.2527+2410C>A (n.2527+2410C>A) | |
2 | g.189005446C>G | CA349844856 | COL3A1 | c.2929C>G (p.Pro977Ala) c.3028C>G (p.Pro1010Ala) c.2527+2410C>G (n.2527+2410C>G) | |
2 | g.189005446C>T | CA349844857 | COL3A1 | c.2929C>T (p.Pro977Ser) c.3028C>T (p.Pro1010Ser) c.2527+2410C>T (n.2527+2410C>T) | ClinVar |
2 | g.189005447C>A | CA349844858 | COL3A1 | c.2930C>A (p.Pro977His) c.3029C>A (p.Pro1010His) c.2527+2411C>A (n.2527+2411C>A) | |
2 | g.189005447C>G | CA349844859 | COL3A1 | c.2930C>G (p.Pro977Arg) c.3029C>G (p.Pro1010Arg) c.2527+2411C>G (n.2527+2411C>G) | |
2 | g.189005447C>T | CA349844860 | COL3A1 | c.2930C>T (p.Pro977Leu) c.3029C>T (p.Pro1010Leu) c.2527+2411C>T (n.2527+2411C>T) | COSMIC |
2 | g.189005448T>A | CA430312639 | COL3A1 | c.2931T>A (p.Pro977=) c.3030T>A (p.Pro1010=) c.2527+2412T>A (n.2527+2412T>A) | |
2 | g.189005448T>C | CA430312636 | COL3A1 | c.2931T>C (p.Pro977=) c.3030T>C (p.Pro1010=) c.2527+2412T>C (n.2527+2412T>C) | dbSNP |
2 | g.189005448T>G | CA430312637 | COL3A1 | c.2931T>G (p.Pro977=) c.3030T>G (p.Pro1010=) c.2527+2412T>G (n.2527+2412T>G) | |
2 | g.189005448T= | CA1315403681 | COL3A1 | c.2931T= (p.Pro977=) c.3030T= (p.Pro1010=) c.2527+2412T= (n.2527+2412T=) | |
2 | g.189005449G>A | CA349844861 | COL3A1 | c.2932G>A (p.Gly978Arg) c.3031G>A (p.Gly1011Arg) c.2527+2413G>A (n.2527+2413G>A) | |
2 | g.189005449G>C | CA349844862 | COL3A1 | c.2932G>C (p.Gly978Arg) c.3031G>C (p.Gly1011Arg) c.2527+2413G>C (n.2527+2413G>C) | |
2 | g.189005449G>T | CA349844863 | COL3A1 | c.2932G>T (p.Gly978Ter) c.3031G>T (p.Gly1011Ter) c.2527+2413G>T (n.2527+2413G>T) | |
2 | g.189005450G>A | CA005953 | COL3A1 | c.2933G>A (p.Gly978Glu) c.3032G>A (p.Gly1011Glu) c.2527+2414G>A (n.2527+2414G>A) | ClinVar dbSNP |
2 | g.189005450G>C | CA349844864 | COL3A1 | c.2933G>C (p.Gly978Ala) c.3032G>C (p.Gly1011Ala) c.2527+2414G>C (n.2527+2414G>C) | |
2 | g.189005450G= | CA1315403682 | COL3A1 | c.2933G= (p.Gly978=) c.3032G= (p.Gly1011=) c.2527+2414G= (n.2527+2414G=) | |
2 | g.189005450G>T | CA349844865 | COL3A1 | c.2933G>T (p.Gly978Val) c.3032G>T (p.Gly1011Val) c.2527+2414G>T (n.2527+2414G>T) | |
2 | g.189005451A>C | CA430312649 | COL3A1 | c.2934A>C (p.Gly978=) c.3033A>C (p.Gly1011=) c.2527+2415A>C (n.2527+2415A>C) | |
2 | g.189005451A>G | CA430312652 | COL3A1 | c.2934A>G (p.Gly978=) c.3033A>G (p.Gly1011=) c.2527+2415A>G (n.2527+2415A>G) | |
2 | g.189005451A>T | CA430312651 | COL3A1 | c.2934A>T (p.Gly978=) c.3033A>T (p.Gly1011=) c.2527+2415A>T (n.2527+2415A>T) | |
2 | g.189005452del | CA2662310249 | COL3A1 | c.2935del (p.Arg979GlufsTer?) c.3034del (p.Arg1012GlufsTer?) c.2527+2416del (n.2527+2416del) | gnomAD v4 |
2 | g.189005452A>C | CA430312653 | COL3A1 | c.2935A>C (p.Arg979=) c.3034A>C (p.Arg1012=) c.2527+2416A>C (n.2527+2416A>C) | |
2 | g.189005452A>G | CA349844867 | COL3A1 | c.2935A>G (p.Arg979Gly) c.3034A>G (p.Arg1012Gly) c.2527+2416A>G (n.2527+2416A>G) | |
2 | g.189005452A>T | CA349844866 | COL3A1 | c.2935A>T (p.Arg979Ter) c.3034A>T (p.Arg1012Ter) c.2527+2416A>T (n.2527+2416A>T) | |
2 | g.189005453G>A | CA62558501 | COL3A1 | c.2936G>A (p.Arg979Lys) c.3035G>A (p.Arg1012Lys) c.2527+2417G>A (n.2527+2417G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005453G>C | CA349844868 | COL3A1 | c.2936G>C (p.Arg979Thr) c.3035G>C (p.Arg1012Thr) c.2527+2417G>C (n.2527+2417G>C) | |
2 | g.189005453G= | CA1315403683 | COL3A1 | c.2936G= (p.Arg979=) c.3035G= (p.Arg1012=) c.2527+2417G= (n.2527+2417G=) | |
2 | g.189005453G>T | CA349844869 | COL3A1 | c.2936G>T (p.Arg979Ile) c.3035G>T (p.Arg1012Ile) c.2527+2417G>T (n.2527+2417G>T) | |
2 | g.189005454A>C | CA349844870 | COL3A1 | c.2937A>C (p.Arg979Ser) c.3036A>C (p.Arg1012Ser) c.2527+2418A>C (n.2527+2418A>C) | |
2 | g.189005454A>G | CA430312658 | COL3A1 | c.2937A>G (p.Arg979=) c.3036A>G (p.Arg1012=) c.2527+2418A>G (n.2527+2418A>G) | |
2 | g.189005454A>T | CA349844871 | COL3A1 | c.2937A>T (p.Arg979Ser) c.3036A>T (p.Arg1012Ser) c.2527+2418A>T (n.2527+2418A>T) | |
2 | g.189005455G>A | CA349844872 | COL3A1 | c.2938G>A (p.Asp980Asn) c.3037G>A (p.Asp1013Asn) c.2527+2419G>A (n.2527+2419G>A) | |
2 | g.189005455G>C | CA349844873 | COL3A1 | c.2938G>C (p.Asp980His) c.3037G>C (p.Asp1013His) c.2527+2419G>C (n.2527+2419G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005455G= | CA1315403684 | COL3A1 | c.2938G= (p.Asp980=) c.3037G= (p.Asp1013=) c.2527+2419G= (n.2527+2419G=) | |
2 | g.189005455G>T | CA349844874 | COL3A1 | c.2938G>T (p.Asp980Tyr) c.3037G>T (p.Asp1013Tyr) c.2527+2419G>T (n.2527+2419G>T) | |
2 | g.189005456A>C | CA349844875 | COL3A1 | c.2939A>C (p.Asp980Ala) c.3038A>C (p.Asp1013Ala) c.2527+2420A>C (n.2527+2420A>C) | |
2 | g.189005456A>G | CA349844876 | COL3A1 | c.2939A>G (p.Asp980Gly) c.3038A>G (p.Asp1013Gly) c.2527+2420A>G (n.2527+2420A>G) | |
2 | g.189005456A>T | CA349844877 | COL3A1 | c.2939A>T (p.Asp980Val) c.3038A>T (p.Asp1013Val) c.2527+2420A>T (n.2527+2420A>T) | |
2 | g.189005457T>A | CA349844878 | COL3A1 | c.2940T>A (p.Asp980Glu) c.3039T>A (p.Asp1013Glu) c.2527+2421T>A (n.2527+2421T>A) | gnomAD v4 |
2 | g.189005457T>C | CA62558504 | COL3A1 | c.2940T>C (p.Asp980=) c.3039T>C (p.Asp1013=) c.2527+2421T>C (n.2527+2421T>C) | dbSNP gnomAD v4 |
2 | g.189005457T>G | CA349844879 | COL3A1 | c.2940T>G (p.Asp980Glu) c.3039T>G (p.Asp1013Glu) c.2527+2421T>G (n.2527+2421T>G) | |
2 | g.189005457T= | CA1315403685 | COL3A1 | c.2940T= (p.Asp980=) c.3039T= (p.Asp1013=) c.2527+2421T= (n.2527+2421T=) | |
2 | g.189005459_189005460del | CA2577185847 | COL3A1 | c.2940+2_2940+3del c.3039+2_3039+3del c.2527+2423_2527+2424del (n.2527+2423_2527+2424del) | |
2 | g.189005458G>A | CA005968 | COL3A1 | c.2940+1G>A (n.2940+1G>A) c.3039+1G>A (n.3039+1G>A) c.2527+2422G>A (n.2527+2422G>A) | ClinVar dbSNP |
2 | g.189005458G>C | CA349844880 | COL3A1 | c.2940+1G>C (n.2940+1G>C) c.3039+1G>C (n.3039+1G>C) c.2527+2422G>C (n.2527+2422G>C) | |
2 | g.189005458G= | CA1315403686 | COL3A1 | c.2940+1G= (n.2940+1G=) c.3039+1G= (n.3039+1G=) c.2527+2422G= (n.2527+2422G=) | |
2 | g.189005458G>T | CA349844881 | COL3A1 | c.2940+1G>T (n.2940+1G>T) c.3039+1G>T (n.3039+1G>T) c.2527+2422G>T (n.2527+2422G>T) | |
2 | g.189005458_189005459insGAAACCC | CA2753571941 | COL3A1 | c.2940+1_2940+2insGAAACCC (n.2940+1_2940+2insGAAACCC) c.3039+1_3039+2insGAAACCC (n.3039+1_3039+2insGAAACCC) c.2527+2422_2527+2423insGAAACCC (n.2527+2422_2527+2423insGAAACCC) | |
2 | g.189005458_189005459insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC | CA2753571942 | COL3A1 | c.2940+1_2940+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC (n.2940+1_2940+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC) c.3039+1_3039+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC (n.3039+1_3039+2insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC) c.2527+2422_2527+2423insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC (n.2527+2422_2527+2423insGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTC) | |
2 | g.189005459T>A | CA349844882 | COL3A1 | c.2940+2T>A (n.2940+2T>A) c.3039+2T>A (n.3039+2T>A) c.2527+2423T>A (n.2527+2423T>A) | |
2 | g.189005459T>C | CA349844883 | COL3A1 | c.2940+2T>C (n.2940+2T>C) c.3039+2T>C (n.3039+2T>C) c.2527+2423T>C (n.2527+2423T>C) | |
2 | g.189005459T>G | CA349844884 | COL3A1 | c.2940+2T>G (n.2940+2T>G) c.3039+2T>G (n.3039+2T>G) c.2527+2423T>G (n.2527+2423T>G) | |
2 | g.189005460G>A | CA762205572 | COL3A1 | c.2940+3G>A (n.2940+3G>A) c.3039+3G>A (n.3039+3G>A) c.2527+2424G>A (n.2527+2424G>A) | dbSNP |
2 | g.189005460G= | CA1315403687 | COL3A1 | c.2940+3G= (n.2940+3G=) c.3039+3G= (n.3039+3G=) c.2527+2424G= (n.2527+2424G=) | |
2 | g.189005460_189005461insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC | CA2753571943 | COL3A1 | c.2940+3_2940+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC (n.2940+3_2940+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC) c.3039+3_3039+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC (n.3039+3_3039+4insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC) c.2527+2424_2527+2425insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC (n.2527+2424_2527+2425insGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTC) | |
2 | g.189005462G>A | CA005974 | COL3A1 | c.2940+5G>A (n.2940+5G>A) c.3039+5G>A (n.3039+5G>A) c.2527+2426G>A (n.2527+2426G>A) | ClinVar dbSNP |
2 | g.189005462G>C | CA2586965514 | COL3A1 | c.2940+5G>C (n.2940+5G>C) c.3039+5G>C (n.3039+5G>C) c.2527+2426G>C (n.2527+2426G>C) | |
2 | g.189005462G= | CA1315403688 | COL3A1 | c.2940+5G= (n.2940+5G=) c.3039+5G= (n.3039+5G=) c.2527+2426G= (n.2527+2426G=) | |
2 | g.189005463T>C | CA005982 | COL3A1 | c.2940+6T>C (n.2940+6T>C) c.3039+6T>C (n.3039+6T>C) c.2527+2427T>C (n.2527+2427T>C) | ClinVar dbSNP |
2 | g.189005463T= | CA1315403689 | COL3A1 | c.2940+6T= (n.2940+6T=) c.3039+6T= (n.3039+6T=) c.2527+2427T= (n.2527+2427T=) | |
2 | g.189005465G>A | CA2580065375 | COL3A1 | c.2940+8G>A (n.2940+8G>A) c.3039+8G>A (n.3039+8G>A) c.2527+2429G>A (n.2527+2429G>A) | ClinVar gnomAD v4 |
2 | g.189005466C>A | CA075806 | COL3A1 | c.2940+9C>A (n.2940+9C>A) c.3039+9C>A (n.3039+9C>A) c.2527+2430C>A (n.2527+2430C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189005466C= | CA1315403690 | COL3A1 | c.2940+9C= (n.2940+9C=) c.3039+9C= (n.3039+9C=) c.2527+2430C= (n.2527+2430C=) | |
2 | g.189005468_189005469delinsGT | CA1315403691 | COL3A1 | c.2940+11_2940+12delinsGT (n.2940+11_2940+12delinsGT) c.3039+11_3039+12delinsGT (n.3039+11_3039+12delinsGT) c.2527+2432_2527+2433delinsGT (n.2527+2432_2527+2433delinsGT) | |
2 | g.189005469T>C | CA762205582 | COL3A1 | c.2940+12T>C (n.2940+12T>C) c.3039+12T>C (n.3039+12T>C) c.2527+2433T>C (n.2527+2433T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189005469T= | CA1315403693 | COL3A1 | c.2940+12T= (n.2940+12T=) c.3039+12T= (n.3039+12T=) c.2527+2433T= (n.2527+2433T=) | |
2 | g.189005473del | CA1315403692 | COL3A1 | c.2940+16del (n.2940+16del) c.3039+16del (n.3039+16del) c.2527+2437del (n.2527+2437del) | dbSNP gnomAD v4 |
2 | g.189005473T>C | CA2662310250 | COL3A1 | c.2940+16T>C (n.2940+16T>C) c.3039+16T>C (n.3039+16T>C) c.2527+2437T>C (n.2527+2437T>C) | gnomAD v4 |
2 | g.189005473T>G | CA005960 | COL3A1 | c.2940+16T>G (n.2940+16T>G) c.3039+16T>G (n.3039+16T>G) c.2527+2437T>G (n.2527+2437T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189005473T= | CA1315403694 | COL3A1 | c.2940+16T= (n.2940+16T=) c.3039+16T= (n.3039+16T=) c.2527+2437T= (n.2527+2437T=) | |
2 | g.189005474A>C | CA2662310251 | COL3A1 | c.2940+17A>C (n.2940+17A>C) c.3039+17A>C (n.3039+17A>C) c.2527+2438A>C (n.2527+2438A>C) | gnomAD v4 |
2 | g.189005475T>C | CA538448938 | COL3A1 | c.2940+18T>C (n.2940+18T>C) c.3039+18T>C (n.3039+18T>C) c.2527+2439T>C (n.2527+2439T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005475T= | CA1315403695 | COL3A1 | c.2940+18T= (n.2940+18T=) c.3039+18T= (n.3039+18T=) c.2527+2439T= (n.2527+2439T=) | |
2 | g.189005477C>A | CA538448939 | COL3A1 | c.2940+20C>A (n.2940+20C>A) c.3039+20C>A (n.3039+20C>A) c.2527+2441C>A (n.2527+2441C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005477C= | CA1315403696 | COL3A1 | c.2940+20C= (n.2940+20C=) c.3039+20C= (n.3039+20C=) c.2527+2441C= (n.2527+2441C=) | |
2 | g.189005477C>T | CA538448940 | COL3A1 | c.2940+20C>T (n.2940+20C>T) c.3039+20C>T (n.3039+20C>T) c.2527+2441C>T (n.2527+2441C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005478A>T | CA2662310252 | COL3A1 | c.2940+21A>T (n.2940+21A>T) c.3039+21A>T (n.3039+21A>T) c.2527+2442A>T (n.2527+2442A>T) | gnomAD v4 |
2 | g.189005479A>G | CA2753571944 | COL3A1 | c.2940+22A>G (n.2940+22A>G) c.3039+22A>G (n.3039+22A>G) c.2527+2443A>G (n.2527+2443A>G) | |
2 | g.189005480C>A | CA2662310253 | COL3A1 | c.2940+23C>A (n.2940+23C>A) c.3039+23C>A (n.3039+23C>A) c.2527+2444C>A (n.2527+2444C>A) | gnomAD v4 |
2 | g.189005480C= | CA1315403697 | COL3A1 | c.2940+23C= (n.2940+23C=) c.3039+23C= (n.3039+23C=) c.2527+2444C= (n.2527+2444C=) | |
2 | g.189005480C>T | CA075792 | COL3A1 | c.2940+23C>T (n.2940+23C>T) c.3039+23C>T (n.3039+23C>T) c.2527+2444C>T (n.2527+2444C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189005481C>A | CA1315403698 | COL3A1 | c.2940+24C>A (n.2940+24C>A) c.3039+24C>A (n.3039+24C>A) c.2527+2445C>A (n.2527+2445C>A) | dbSNP gnomAD v4 |
2 | g.189005481C= | CA1315403699 | COL3A1 | c.2940+24C= (n.2940+24C=) c.3039+24C= (n.3039+24C=) c.2527+2445C= (n.2527+2445C=) | |
2 | g.189005481C>T | CA075793 | COL3A1 | c.2940+24C>T (n.2940+24C>T) c.3039+24C>T (n.3039+24C>T) c.2527+2445C>T (n.2527+2445C>T) | dbSNP ExAC |
2 | g.189005482A= | CA1315403700 | COL3A1 | c.2940+25A= (n.2940+25A=) c.3039+25A= (n.3039+25A=) c.2527+2446A= (n.2527+2446A=) | |
2 | g.189005482A>G | CA1315403701 | COL3A1 | c.2940+25A>G (n.2940+25A>G) c.3039+25A>G (n.3039+25A>G) c.2527+2446A>G (n.2527+2446A>G) | dbSNP |
2 | g.189005482A>T | CA2662310254 | COL3A1 | c.2940+25A>T (n.2940+25A>T) c.3039+25A>T (n.3039+25A>T) c.2527+2446A>T (n.2527+2446A>T) | gnomAD v4 |
2 | g.189005484C>A | CA2577185848 | COL3A1 | c.2940+27C>A (n.2940+27C>A) c.3039+27C>A (n.3039+27C>A) c.2527+2448C>A (n.2527+2448C>A) | gnomAD v4 |
2 | g.189005484C= | CA1315403702 | COL3A1 | c.2940+27C= (n.2940+27C=) c.3039+27C= (n.3039+27C=) c.2527+2448C= (n.2527+2448C=) | |
2 | g.189005484C>G | CA075795 | COL3A1 | c.2940+27C>G (n.2940+27C>G) c.3039+27C>G (n.3039+27C>G) c.2527+2448C>G (n.2527+2448C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189005484C>T | CA075797 | COL3A1 | c.2940+27C>T (n.2940+27C>T) c.3039+27C>T (n.3039+27C>T) c.2527+2448C>T (n.2527+2448C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189005485C= | CA1315403703 | COL3A1 | c.2940+28C= (n.2940+28C=) c.3039+28C= (n.3039+28C=) c.2527+2449C= (n.2527+2449C=) | |
2 | g.189005485C>G | CA538448941 | COL3A1 | c.2940+28C>G (n.2940+28C>G) c.3039+28C>G (n.3039+28C>G) c.2527+2449C>G (n.2527+2449C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005486A= | CA1315403704 | COL3A1 | c.2940+29A= (n.2940+29A=) c.3039+29A= (n.3039+29A=) c.2527+2450A= (n.2527+2450A=) | |
2 | g.189005486A>C | CA2662310255 | COL3A1 | c.2940+29A>C (n.2940+29A>C) c.3039+29A>C (n.3039+29A>C) c.2527+2450A>C (n.2527+2450A>C) | gnomAD v4 |
2 | g.189005486A>G | CA1315403705 | COL3A1 | c.2940+29A>G (n.2940+29A>G) c.3039+29A>G (n.3039+29A>G) c.2527+2450A>G (n.2527+2450A>G) | dbSNP gnomAD v4 |
2 | g.189005486A>T | CA075799 | COL3A1 | c.2940+29A>T (n.2940+29A>T) c.3039+29A>T (n.3039+29A>T) c.2527+2450A>T (n.2527+2450A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189005487G>A | CA1040412079 | COL3A1 | c.2940+30G>A (n.2940+30G>A) c.3039+30G>A (n.3039+30G>A) c.2527+2451G>A (n.2527+2451G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189005487G>C | CA1315403707 | COL3A1 | c.2940+30G>C (n.2940+30G>C) c.3039+30G>C (n.3039+30G>C) c.2527+2451G>C (n.2527+2451G>C) | dbSNP |
2 | g.189005487G= | CA1315403706 | COL3A1 | c.2940+30G= (n.2940+30G=) c.3039+30G= (n.3039+30G=) c.2527+2451G= (n.2527+2451G=) | |
2 | g.189005487G>T | CA2843185004 | COL3A1 | c.2940+30G>T (n.2940+30G>T) c.3039+30G>T (n.3039+30G>T) c.2527+2451G>T (n.2527+2451G>T) | |
2 | g.189005488G>C | CA2662310256 | COL3A1 | c.2940+31G>C (n.2940+31G>C) c.3039+31G>C (n.3039+31G>C) c.2527+2452G>C (n.2527+2452G>C) | gnomAD v4 |
2 | g.189005488G= | CA1315403708 | COL3A1 | c.2940+31G= (n.2940+31G=) c.3039+31G= (n.3039+31G=) c.2527+2452G= (n.2527+2452G=) | |
2 | g.189005488G>T | CA62558562 | COL3A1 | c.2940+31G>T (n.2940+31G>T) c.3039+31G>T (n.3039+31G>T) c.2527+2452G>T (n.2527+2452G>T) | dbSNP |
2 | g.189005490A= | CA1315403709 | COL3A1 | c.2940+33A= (n.2940+33A=) c.3039+33A= (n.3039+33A=) c.2527+2454A= (n.2527+2454A=) | |
2 | g.189005490A>C | CA2662310257 | COL3A1 | c.2940+33A>C (n.2940+33A>C) c.3039+33A>C (n.3039+33A>C) c.2527+2454A>C (n.2527+2454A>C) | gnomAD v4 |
2 | g.189005490A>G | CA075800 | COL3A1 | c.2940+33A>G (n.2940+33A>G) c.3039+33A>G (n.3039+33A>G) c.2527+2454A>G (n.2527+2454A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189005490A>T | CA2662310258 | COL3A1 | c.2940+33A>T (n.2940+33A>T) c.3039+33A>T (n.3039+33A>T) c.2527+2454A>T (n.2527+2454A>T) | gnomAD v4 |
2 | g.189005491G>A | CA1040412082 | COL3A1 | c.2940+34G>A (n.2940+34G>A) c.3039+34G>A (n.3039+34G>A) c.2527+2455G>A (n.2527+2455G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189005491G= | CA1315403710 | COL3A1 | c.2940+34G= (n.2940+34G=) c.3039+34G= (n.3039+34G=) c.2527+2455G= (n.2527+2455G=) | |
2 | g.189005492A>G | CA2662310259 | COL3A1 | c.2940+35A>G (n.2940+35A>G) c.3039+35A>G (n.3039+35A>G) c.2527+2456A>G (n.2527+2456A>G) | gnomAD v4 |
2 | g.189005494T>C | CA2577185849 | COL3A1 | c.2940+37T>C (n.2940+37T>C) c.3039+37T>C (n.3039+37T>C) c.2527+2458T>C (n.2527+2458T>C) | |
2 | g.189005495_189005497del | CA2662310260 | COL3A1 | c.2940+38_2940+40del (n.2940+38_2940+40del) c.3039+38_3039+40del (n.3039+38_3039+40del) c.2527+2459_2527+2461del (n.2527+2459_2527+2461del) | gnomAD v4 |
2 | g.189005496T>C | CA2662310261 | COL3A1 | c.2940+39T>C (n.2940+39T>C) c.3039+39T>C (n.3039+39T>C) c.2527+2460T>C (n.2527+2460T>C) | gnomAD v4 |
2 | g.189005497G>T | CA2662310262 | COL3A1 | c.2940+40G>T (n.2940+40G>T) c.3039+40G>T (n.3039+40G>T) c.2527+2461G>T (n.2527+2461G>T) | gnomAD v4 |
2 | g.189005498A= | CA1315403711 | COL3A1 | c.2940+41A= (n.2940+41A=) c.3039+41A= (n.3039+41A=) c.2527+2462A= (n.2527+2462A=) | |
2 | g.189005498A>G | CA075802 | COL3A1 | c.2940+41A>G (n.2940+41A>G) c.3039+41A>G (n.3039+41A>G) c.2527+2462A>G (n.2527+2462A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189005499T>A | CA2662310263 | COL3A1 | c.2940+42T>A (n.2940+42T>A) c.3039+42T>A (n.3039+42T>A) c.2527+2463T>A (n.2527+2463T>A) | gnomAD v4 |
2 | g.189005499T>C | CA1315403713 | COL3A1 | c.2940+42T>C (n.2940+42T>C) c.3039+42T>C (n.3039+42T>C) c.2527+2463T>C (n.2527+2463T>C) | dbSNP |
2 | g.189005499T= | CA1315403712 | COL3A1 | c.2940+42T= (n.2940+42T=) c.3039+42T= (n.3039+42T=) c.2527+2463T= (n.2527+2463T=) | |
2 | g.189005501A>G | CA2662310264 | COL3A1 | c.2940+44A>G (n.2940+44A>G) c.3039+44A>G (n.3039+44A>G) c.2527+2465A>G (n.2527+2465A>G) | gnomAD v4 |
2 | g.189005502T>C | CA2662310266 | COL3A1 | c.2940+45T>C (n.2940+45T>C) c.3039+45T>C (n.3039+45T>C) c.2527+2466T>C (n.2527+2466T>C) | gnomAD v4 |
2 | g.189005504del | CA2662310265 | COL3A1 | c.2940+47del (n.2940+47del) c.3039+47del (n.3039+47del) c.2527+2468del (n.2527+2468del) | gnomAD v4 |
2 | g.189005503T>A | CA075804 | COL3A1 | c.2940+46T>A (n.2940+46T>A) c.3039+46T>A (n.3039+46T>A) c.2527+2467T>A (n.2527+2467T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189005503T= | CA1315403714 | COL3A1 | c.2940+46T= (n.2940+46T=) c.3039+46T= (n.3039+46T=) c.2527+2467T= (n.2527+2467T=) | |
2 | g.189005505A= | CA1315403715 | COL3A1 | c.2940+48A= (n.2940+48A=) c.3039+48A= (n.3039+48A=) c.2527+2469A= (n.2527+2469A=) | |
2 | g.189005505A>G | CA538448942 | COL3A1 | c.2940+48A>G (n.2940+48A>G) c.3039+48A>G (n.3039+48A>G) c.2527+2469A>G (n.2527+2469A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189005505dup | CA2843185005 | COL3A1 | c.2940+48dup (n.2940+48dup) c.3039+48dup (n.3039+48dup) c.2527+2469dup (n.2527+2469dup) | |
2 | g.189005509C>A | CA2662310267 | COL3A1 | c.2940+52C>A (n.2940+52C>A) c.3039+52C>A (n.3039+52C>A) c.2527+2473C>A (n.2527+2473C>A) | gnomAD v4 |
2 | g.189005509C>G | CA2662310268 | COL3A1 | c.2940+52C>G (n.2940+52C>G) c.3039+52C>G (n.3039+52C>G) c.2527+2473C>G (n.2527+2473C>G) | gnomAD v4 |
2 | g.189005509C>T | CA2577185850 | COL3A1 | c.2940+52C>T (n.2940+52C>T) c.3039+52C>T (n.3039+52C>T) c.2527+2473C>T (n.2527+2473C>T) | gnomAD v4 |
2 | g.189005510A= | CA1315403716 | COL3A1 | c.2940+53A= (n.2940+53A=) c.3039+53A= (n.3039+53A=) c.2527+2474A= (n.2527+2474A=) | |
2 | g.189005510A>G | CA62558578 | COL3A1 | c.2940+53A>G (n.2940+53A>G) c.3039+53A>G (n.3039+53A>G) c.2527+2474A>G (n.2527+2474A>G) | dbSNP gnomAD v4 |
2 | g.189005510_189005511insCCTTT | CA2662310270 | COL3A1 | c.2940+53_2940+54insCCTTT (n.2940+53_2940+54insCCTTT) c.3039+53_3039+54insCCTTT (n.3039+53_3039+54insCCTTT) c.2527+2474_2527+2475insCCTTT (n.2527+2474_2527+2475insCCTTT) | gnomAD v4 |
2 | g.189005511G>T | CA2662310269 | COL3A1 | c.2940+54G>T (n.2940+54G>T) c.3039+54G>T (n.3039+54G>T) c.2527+2475G>T (n.2527+2475G>T) | gnomAD v4 |
2 | g.189005512C>A | CA2662310271 | COL3A1 | c.2940+55C>A (n.2940+55C>A) c.3039+55C>A (n.3039+55C>A) c.2527+2476C>A (n.2527+2476C>A) | gnomAD v4 |
2 | g.189005512C= | CA1315403717 | COL3A1 | c.2940+55C= (n.2940+55C=) c.3039+55C= (n.3039+55C=) c.2527+2476C= (n.2527+2476C=) | |
2 | g.189005512C>G | CA2662310272 | COL3A1 | c.2940+55C>G (n.2940+55C>G) c.3039+55C>G (n.3039+55C>G) c.2527+2476C>G (n.2527+2476C>G) | gnomAD v4 |
2 | g.189005512C>T | CA762205623 | COL3A1 | c.2940+55C>T (n.2940+55C>T) c.3039+55C>T (n.3039+55C>T) c.2527+2476C>T (n.2527+2476C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189005512_189005513insTG | CA2830535342 | COL3A1 | c.2940+55_2940+56insTG (n.2940+55_2940+56insTG) c.3039+55_3039+56insTG (n.3039+55_3039+56insTG) c.2527+2476_2527+2477insTG (n.2527+2476_2527+2477insTG) | |
2 | g.189005512_189005513insTGAAAT | CA2662310273 | COL3A1 | c.2940+55_2940+56insTGAAAT (n.2940+55_2940+56insTGAAAT) c.3039+55_3039+56insTGAAAT (n.3039+55_3039+56insTGAAAT) c.2527+2476_2527+2477insTGAAAT (n.2527+2476_2527+2477insTGAAAT) | gnomAD v4 |
2 | g.189005513_189005517del | CA2662310274 | COL3A1 | c.2940+56_2940+60del (n.2940+56_2940+60del) c.3039+56_3039+60del (n.3039+56_3039+60del) c.2527+2477_2527+2481del (n.2527+2477_2527+2481del) | gnomAD v4 |
2 | g.189005514A>G | CA2662310275 | COL3A1 | c.2940+57A>G (n.2940+57A>G) c.3039+57A>G (n.3039+57A>G) c.2527+2478A>G (n.2527+2478A>G) | gnomAD v4 |
2 | g.189005516G>A | CA2662310276 | COL3A1 | c.2940+59G>A (n.2940+59G>A) c.3039+59G>A (n.3039+59G>A) c.2527+2480G>A (n.2527+2480G>A) | gnomAD v4 |
2 | g.189005516G>T | CA2662310277 | COL3A1 | c.2940+59G>T (n.2940+59G>T) c.3039+59G>T (n.3039+59G>T) c.2527+2480G>T (n.2527+2480G>T) | gnomAD v4 |
2 | g.189005516_189005517del | CA2830535343 | COL3A1 | c.2940+59_2940+60del (n.2940+59_2940+60del) c.3039+59_3039+60del (n.3039+59_3039+60del) c.2527+2480_2527+2481del (n.2527+2480_2527+2481del) | |
2 | g.189005519del | CA2830535344 | COL3A1 | c.2940+62del (n.2940+62del) c.3039+62del (n.3039+62del) c.2527+2483del (n.2527+2483del) | |
2 | g.189005519G>A | CA2577185851 | COL3A1 | c.2940+62G>A (n.2940+62G>A) c.3039+62G>A (n.3039+62G>A) c.2527+2483G>A (n.2527+2483G>A) | gnomAD v4 |