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 |
|---|---|---|---|---|---|
| X | g.108681846C>A | CA413852284 | COL4A5 | c.4174C>A (p.Leu1392Ile) c.4156C>A (p.Leu1386Ile) n.668C>A n.577C>A c.4165C>A (p.Leu1389Ile) c.3850C>A (p.Leu1284Ile) c.1747C>A (p.Leu583Ile) c.4189C>A (p.Leu1397Ile) c.4180C>A (p.Leu1394Ile) c.4171C>A (p.Leu1391Ile) c.2509C>A (p.Leu837Ile) | |
| X | g.108681846C>G | CA413852293 | COL4A5 | c.4174C>G (p.Leu1392Val) c.4156C>G (p.Leu1386Val) n.668C>G n.577C>G c.4165C>G (p.Leu1389Val) c.3850C>G (p.Leu1284Val) c.1747C>G (p.Leu583Val) c.4189C>G (p.Leu1397Val) c.4180C>G (p.Leu1394Val) c.4171C>G (p.Leu1391Val) c.2509C>G (p.Leu837Val) | |
| X | g.108681846C>T | CA517923855 | COL4A5 | c.4174C>T (p.Leu1392=) c.4156C>T (p.Leu1386=) n.668C>T n.577C>T c.4165C>T (p.Leu1389=) c.3850C>T (p.Leu1284=) c.1747C>T (p.Leu583=) c.4189C>T (p.Leu1397=) c.4180C>T (p.Leu1394=) c.4171C>T (p.Leu1391=) c.2509C>T (p.Leu837=) | |
| X | g.108681847T>A | CA413852295 | COL4A5 | c.4175T>A (p.Leu1392Gln) c.4157T>A (p.Leu1386Gln) n.669T>A n.578T>A c.4166T>A (p.Leu1389Gln) c.3851T>A (p.Leu1284Gln) c.1748T>A (p.Leu583Gln) c.4190T>A (p.Leu1397Gln) c.4181T>A (p.Leu1394Gln) c.4172T>A (p.Leu1391Gln) c.2510T>A (p.Leu837Gln) | |
| X | g.108681847T>C | CA10489300 | COL4A5 | c.4175T>C (p.Leu1392Pro) c.4157T>C (p.Leu1386Pro) n.669T>C n.578T>C c.4166T>C (p.Leu1389Pro) c.3851T>C (p.Leu1284Pro) c.1748T>C (p.Leu583Pro) c.4190T>C (p.Leu1397Pro) c.4181T>C (p.Leu1394Pro) c.4172T>C (p.Leu1391Pro) c.2510T>C (p.Leu837Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681847T>G | CA413852297 | COL4A5 | c.4175T>G (p.Leu1392Arg) c.4157T>G (p.Leu1386Arg) n.669T>G n.578T>G c.4166T>G (p.Leu1389Arg) c.3851T>G (p.Leu1284Arg) c.1748T>G (p.Leu583Arg) c.4190T>G (p.Leu1397Arg) c.4181T>G (p.Leu1394Arg) c.4172T>G (p.Leu1391Arg) c.2510T>G (p.Leu837Arg) | |
| X | g.108681847T= | CA2450717240 | COL4A5 | c.4175T= (p.Leu1392=) c.4157T= (p.Leu1386=) n.669T= n.578T= c.4166T= (p.Leu1389=) c.3851T= (p.Leu1284=) c.1748T= (p.Leu583=) c.4190T= (p.Leu1397=) c.4181T= (p.Leu1394=) c.4172T= (p.Leu1391=) c.2510T= (p.Leu837=) | |
| X | g.108681848A= | CA2450717241 | COL4A5 | c.4176A= (p.Leu1392=) c.4158A= (p.Leu1386=) n.670A= n.579A= c.4167A= (p.Leu1389=) c.3852A= (p.Leu1284=) c.1749A= (p.Leu583=) c.4191A= (p.Leu1397=) c.4182A= (p.Leu1394=) c.4173A= (p.Leu1391=) c.2511A= (p.Leu837=) | |
| X | g.108681848A>C | CA517923856 | COL4A5 | c.4176A>C (p.Leu1392=) c.4158A>C (p.Leu1386=) n.670A>C n.579A>C c.4167A>C (p.Leu1389=) c.3852A>C (p.Leu1284=) c.1749A>C (p.Leu583=) c.4191A>C (p.Leu1397=) c.4182A>C (p.Leu1394=) c.4173A>C (p.Leu1391=) c.2511A>C (p.Leu837=) | |
| X | g.108681848A>G | CA517923857 | COL4A5 | c.4176A>G (p.Leu1392=) c.4158A>G (p.Leu1386=) n.670A>G n.579A>G c.4167A>G (p.Leu1389=) c.3852A>G (p.Leu1284=) c.1749A>G (p.Leu583=) c.4191A>G (p.Leu1397=) c.4182A>G (p.Leu1394=) c.4173A>G (p.Leu1391=) c.2511A>G (p.Leu837=) | dbSNP |
| X | g.108681848A>T | CA517923858 | COL4A5 | c.4176A>T (p.Leu1392=) c.4158A>T (p.Leu1386=) n.670A>T n.579A>T c.4167A>T (p.Leu1389=) c.3852A>T (p.Leu1284=) c.1749A>T (p.Leu583=) c.4191A>T (p.Leu1397=) c.4182A>T (p.Leu1394=) c.4173A>T (p.Leu1391=) c.2511A>T (p.Leu837=) | COSMIC |
| X | g.108681849A>C | CA413852299 | COL4A5 | c.4177A>C (p.Lys1393Gln) c.4159A>C (p.Lys1387Gln) n.671A>C n.580A>C c.4168A>C (p.Lys1390Gln) c.3853A>C (p.Lys1285Gln) c.1750A>C (p.Lys584Gln) c.4192A>C (p.Lys1398Gln) c.4183A>C (p.Lys1395Gln) c.4174A>C (p.Lys1392Gln) c.2512A>C (p.Lys838Gln) | |
| X | g.108681849A>G | CA413852300 | COL4A5 | c.4177A>G (p.Lys1393Glu) c.4159A>G (p.Lys1387Glu) n.671A>G n.580A>G c.4168A>G (p.Lys1390Glu) c.3853A>G (p.Lys1285Glu) c.1750A>G (p.Lys584Glu) c.4192A>G (p.Lys1398Glu) c.4183A>G (p.Lys1395Glu) c.4174A>G (p.Lys1392Glu) c.2512A>G (p.Lys838Glu) | |
| X | g.108681849A>T | CA413852303 | COL4A5 | c.4177A>T (p.Lys1393Ter) c.4159A>T (p.Lys1387Ter) n.671A>T n.580A>T c.4168A>T (p.Lys1390Ter) c.3853A>T (p.Lys1285Ter) c.1750A>T (p.Lys584Ter) c.4192A>T (p.Lys1398Ter) c.4183A>T (p.Lys1395Ter) c.4174A>T (p.Lys1392Ter) c.2512A>T (p.Lys838Ter) | |
| X | g.108681850A= | CA2450717242 | COL4A5 | c.4178A= (p.Lys1393=) c.4160A= (p.Lys1387=) n.672A= n.581A= c.4169A= (p.Lys1390=) c.3854A= (p.Lys1285=) c.1751A= (p.Lys584=) c.4193A= (p.Lys1398=) c.4184A= (p.Lys1395=) c.4175A= (p.Lys1392=) c.2513A= (p.Lys838=) | |
| X | g.108681850A>C | CA413852313 | COL4A5 | c.4178A>C (p.Lys1393Thr) c.4160A>C (p.Lys1387Thr) n.672A>C n.581A>C c.4169A>C (p.Lys1390Thr) c.3854A>C (p.Lys1285Thr) c.1751A>C (p.Lys584Thr) c.4193A>C (p.Lys1398Thr) c.4184A>C (p.Lys1395Thr) c.4175A>C (p.Lys1392Thr) c.2513A>C (p.Lys838Thr) | |
| X | g.108681850A>G | CA413852316 | COL4A5 | c.4178A>G (p.Lys1393Arg) c.4160A>G (p.Lys1387Arg) n.672A>G n.581A>G c.4169A>G (p.Lys1390Arg) c.3854A>G (p.Lys1285Arg) c.1751A>G (p.Lys584Arg) c.4193A>G (p.Lys1398Arg) c.4184A>G (p.Lys1395Arg) c.4175A>G (p.Lys1392Arg) c.2513A>G (p.Lys838Arg) | gnomAD v4 |
| X | g.108681850A>T | CA413852317 | COL4A5 | c.4178A>T (p.Lys1393Met) c.4160A>T (p.Lys1387Met) n.672A>T n.581A>T c.4169A>T (p.Lys1390Met) c.3854A>T (p.Lys1285Met) c.1751A>T (p.Lys584Met) c.4193A>T (p.Lys1398Met) c.4184A>T (p.Lys1395Met) c.4175A>T (p.Lys1392Met) c.2513A>T (p.Lys838Met) | dbSNP |
| X | g.108681851G>A | CA517923859 | COL4A5 | c.4179G>A (p.Lys1393=) c.4161G>A (p.Lys1387=) n.673G>A n.582G>A c.4170G>A (p.Lys1390=) c.3855G>A (p.Lys1285=) c.1752G>A (p.Lys584=) c.4194G>A (p.Lys1398=) c.4185G>A (p.Lys1395=) c.4176G>A (p.Lys1392=) c.2514G>A (p.Lys838=) | |
| X | g.108681851G>C | CA413852318 | COL4A5 | c.4179G>C (p.Lys1393Asn) c.4161G>C (p.Lys1387Asn) n.673G>C n.582G>C c.4170G>C (p.Lys1390Asn) c.3855G>C (p.Lys1285Asn) c.1752G>C (p.Lys584Asn) c.4194G>C (p.Lys1398Asn) c.4185G>C (p.Lys1395Asn) c.4176G>C (p.Lys1392Asn) c.2514G>C (p.Lys838Asn) | |
| X | g.108681851G= | CA2450717243 | COL4A5 | c.4179G= (p.Lys1393=) c.4161G= (p.Lys1387=) n.673G= n.582G= c.4170G= (p.Lys1390=) c.3855G= (p.Lys1285=) c.1752G= (p.Lys584=) c.4194G= (p.Lys1398=) c.4185G= (p.Lys1395=) c.4176G= (p.Lys1392=) c.2514G= (p.Lys838=) | |
| X | g.108681851G>T | CA413852319 | COL4A5 | c.4179G>T (p.Lys1393Asn) c.4161G>T (p.Lys1387Asn) n.673G>T n.582G>T c.4170G>T (p.Lys1390Asn) c.3855G>T (p.Lys1285Asn) c.1752G>T (p.Lys584Asn) c.4194G>T (p.Lys1398Asn) c.4185G>T (p.Lys1395Asn) c.4176G>T (p.Lys1392Asn) c.2514G>T (p.Lys838Asn) | gnomAD v4 |
| X | g.108681851_108681852insTCCT | CA258993 | COL4A5 | c.4179_4180insTCCT (p.Gly1394SerfsTer31) c.4161_4162insTCCT (p.Gly1388SerfsTer31) n.673_674insTCCT n.582_583insTCCT c.4170_4171insTCCT (p.Gly1391SerfsTer31) c.3855_3856insTCCT (p.Gly1286SerfsTer31) c.1752_1753insTCCT (p.Gly585SerfsTer31) c.4194_4195insTCCT (p.Gly1399SerfsTer31) c.4185_4186insTCCT (p.Gly1396SerfsTer31) c.4176_4177insTCCT (p.Gly1393SerfsTer31) c.2514_2515insTCCT (p.Gly839SerfsTer31) | dbSNP |
| X | g.108681852G>A | CA413852321 | COL4A5 | c.4180G>A (p.Gly1394Ser) c.4162G>A (p.Gly1388Ser) n.674G>A n.583G>A c.4171G>A (p.Gly1391Ser) c.3856G>A (p.Gly1286Ser) c.1753G>A (p.Gly585Ser) c.4195G>A (p.Gly1399Ser) c.4186G>A (p.Gly1396Ser) c.4177G>A (p.Gly1393Ser) c.2515G>A (p.Gly839Ser) | dbSNP |
| X | g.108681852G>C | CA413852323 | COL4A5 | c.4180G>C (p.Gly1394Arg) c.4162G>C (p.Gly1388Arg) n.674G>C n.583G>C c.4171G>C (p.Gly1391Arg) c.3856G>C (p.Gly1286Arg) c.1753G>C (p.Gly585Arg) c.4195G>C (p.Gly1399Arg) c.4186G>C (p.Gly1396Arg) c.4177G>C (p.Gly1393Arg) c.2515G>C (p.Gly839Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108681852G= | CA2450717244 | COL4A5 | c.4180G= (p.Gly1394=) c.4162G= (p.Gly1388=) n.674G= n.583G= c.4171G= (p.Gly1391=) c.3856G= (p.Gly1286=) c.1753G= (p.Gly585=) c.4195G= (p.Gly1399=) c.4186G= (p.Gly1396=) c.4177G= (p.Gly1393=) c.2515G= (p.Gly839=) | |
| X | g.108681852G>T | CA413852320 | COL4A5 | c.4180G>T (p.Gly1394Cys) c.4162G>T (p.Gly1388Cys) n.674G>T n.583G>T c.4171G>T (p.Gly1391Cys) c.3856G>T (p.Gly1286Cys) c.1753G>T (p.Gly585Cys) c.4195G>T (p.Gly1399Cys) c.4186G>T (p.Gly1396Cys) c.4177G>T (p.Gly1393Cys) c.2515G>T (p.Gly839Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681853G>A | CA413852327 | COL4A5 | c.4181G>A (p.Gly1394Asp) c.4163G>A (p.Gly1388Asp) n.675G>A n.584G>A c.4172G>A (p.Gly1391Asp) c.3857G>A (p.Gly1286Asp) c.1754G>A (p.Gly585Asp) c.4196G>A (p.Gly1399Asp) c.4187G>A (p.Gly1396Asp) c.4178G>A (p.Gly1393Asp) c.2516G>A (p.Gly839Asp) | |
| X | g.108681853G>C | CA413852329 | COL4A5 | c.4181G>C (p.Gly1394Ala) c.4163G>C (p.Gly1388Ala) n.675G>C n.584G>C c.4172G>C (p.Gly1391Ala) c.3857G>C (p.Gly1286Ala) c.1754G>C (p.Gly585Ala) c.4196G>C (p.Gly1399Ala) c.4187G>C (p.Gly1396Ala) c.4178G>C (p.Gly1393Ala) c.2516G>C (p.Gly839Ala) | |
| X | g.108681853G>T | CA413852334 | COL4A5 | c.4181G>T (p.Gly1394Val) c.4163G>T (p.Gly1388Val) n.675G>T n.584G>T c.4172G>T (p.Gly1391Val) c.3857G>T (p.Gly1286Val) c.1754G>T (p.Gly585Val) c.4196G>T (p.Gly1399Val) c.4187G>T (p.Gly1396Val) c.4178G>T (p.Gly1393Val) c.2516G>T (p.Gly839Val) | |
| X | g.108681854T>A | CA517923862 | COL4A5 | c.4182T>A (p.Gly1394=) c.4164T>A (p.Gly1388=) n.676T>A n.585T>A c.4173T>A (p.Gly1391=) c.3858T>A (p.Gly1286=) c.1755T>A (p.Gly585=) c.4197T>A (p.Gly1399=) c.4188T>A (p.Gly1396=) c.4179T>A (p.Gly1393=) c.2517T>A (p.Gly839=) | |
| X | g.108681854T>C | CA517923861 | COL4A5 | c.4182T>C (p.Gly1394=) c.4164T>C (p.Gly1388=) n.676T>C n.585T>C c.4173T>C (p.Gly1391=) c.3858T>C (p.Gly1286=) c.1755T>C (p.Gly585=) c.4197T>C (p.Gly1399=) c.4188T>C (p.Gly1396=) c.4179T>C (p.Gly1393=) c.2517T>C (p.Gly839=) | COSMIC COSMIC |
| X | g.108681854T>G | CA517923860 | COL4A5 | c.4182T>G (p.Gly1394=) c.4164T>G (p.Gly1388=) n.676T>G n.585T>G c.4173T>G (p.Gly1391=) c.3858T>G (p.Gly1286=) c.1755T>G (p.Gly585=) c.4197T>G (p.Gly1399=) c.4188T>G (p.Gly1396=) c.4179T>G (p.Gly1393=) c.2517T>G (p.Gly839=) | |
| X | g.108681855C>A | CA413852336 | COL4A5 | c.4183C>A (p.Leu1395Ile) c.4165C>A (p.Leu1389Ile) n.677C>A n.586C>A c.4174C>A (p.Leu1392Ile) c.3859C>A (p.Leu1287Ile) c.1756C>A (p.Leu586Ile) c.4198C>A (p.Leu1400Ile) c.4189C>A (p.Leu1397Ile) c.4180C>A (p.Leu1394Ile) c.2518C>A (p.Leu840Ile) | |
| X | g.108681855C>G | CA413852337 | COL4A5 | c.4183C>G (p.Leu1395Val) c.4165C>G (p.Leu1389Val) n.677C>G n.586C>G c.4174C>G (p.Leu1392Val) c.3859C>G (p.Leu1287Val) c.1756C>G (p.Leu586Val) c.4198C>G (p.Leu1400Val) c.4189C>G (p.Leu1397Val) c.4180C>G (p.Leu1394Val) c.2518C>G (p.Leu840Val) | |
| X | g.108681855C>T | CA517923863 | COL4A5 | c.4183C>T (p.Leu1395=) c.4165C>T (p.Leu1389=) n.677C>T n.586C>T c.4174C>T (p.Leu1392=) c.3859C>T (p.Leu1287=) c.1756C>T (p.Leu586=) c.4198C>T (p.Leu1400=) c.4189C>T (p.Leu1397=) c.4180C>T (p.Leu1394=) c.2518C>T (p.Leu840=) | |
| X | g.108681856T>A | CA413852340 | COL4A5 | c.4184T>A (p.Leu1395Gln) c.4166T>A (p.Leu1389Gln) n.678T>A n.587T>A c.4175T>A (p.Leu1392Gln) c.3860T>A (p.Leu1287Gln) c.1757T>A (p.Leu586Gln) c.4199T>A (p.Leu1400Gln) c.4190T>A (p.Leu1397Gln) c.4181T>A (p.Leu1394Gln) c.2519T>A (p.Leu840Gln) | |
| X | g.108681856T>C | CA413852342 | COL4A5 | c.4184T>C (p.Leu1395Pro) c.4166T>C (p.Leu1389Pro) n.678T>C n.587T>C c.4175T>C (p.Leu1392Pro) c.3860T>C (p.Leu1287Pro) c.1757T>C (p.Leu586Pro) c.4199T>C (p.Leu1400Pro) c.4190T>C (p.Leu1397Pro) c.4181T>C (p.Leu1394Pro) c.2519T>C (p.Leu840Pro) | gnomAD v4 |
| X | g.108681856T>G | CA413852344 | COL4A5 | c.4184T>G (p.Leu1395Arg) c.4166T>G (p.Leu1389Arg) n.678T>G n.587T>G c.4175T>G (p.Leu1392Arg) c.3860T>G (p.Leu1287Arg) c.1757T>G (p.Leu586Arg) c.4199T>G (p.Leu1400Arg) c.4190T>G (p.Leu1397Arg) c.4181T>G (p.Leu1394Arg) c.2519T>G (p.Leu840Arg) | |
| X | g.108681856dup | CA2580100216 | COL4A5 | c.4184dup (p.Pro1396ThrfsTer28) c.4166dup (p.Pro1390ThrfsTer28) n.678dup n.587dup c.4175dup (p.Pro1393ThrfsTer28) c.3860dup (p.Pro1288ThrfsTer28) c.1757dup (p.Pro587ThrfsTer28) c.4199dup (p.Pro1401ThrfsTer28) c.4190dup (p.Pro1398ThrfsTer28) c.4181dup (p.Pro1395ThrfsTer28) c.2519dup (p.Pro841ThrfsTer28) | ClinVar |
| X | g.108681857A= | CA2450717245 | COL4A5 | c.4185A= (p.Leu1395=) c.4167A= (p.Leu1389=) n.679A= n.588A= c.4176A= (p.Leu1392=) c.3861A= (p.Leu1287=) c.1758A= (p.Leu586=) c.4200A= (p.Leu1400=) c.4191A= (p.Leu1397=) c.4182A= (p.Leu1394=) c.2520A= (p.Leu840=) | |
| X | g.108681857A>C | CA517923866 | COL4A5 | c.4185A>C (p.Leu1395=) c.4167A>C (p.Leu1389=) n.679A>C n.588A>C c.4176A>C (p.Leu1392=) c.3861A>C (p.Leu1287=) c.1758A>C (p.Leu586=) c.4200A>C (p.Leu1400=) c.4191A>C (p.Leu1397=) c.4182A>C (p.Leu1394=) c.2520A>C (p.Leu840=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681857A>G | CA517923865 | COL4A5 | c.4185A>G (p.Leu1395=) c.4167A>G (p.Leu1389=) n.679A>G n.588A>G c.4176A>G (p.Leu1392=) c.3861A>G (p.Leu1287=) c.1758A>G (p.Leu586=) c.4200A>G (p.Leu1400=) c.4191A>G (p.Leu1397=) c.4182A>G (p.Leu1394=) c.2520A>G (p.Leu840=) | |
| X | g.108681857A>T | CA517923864 | COL4A5 | c.4185A>T (p.Leu1395=) c.4167A>T (p.Leu1389=) n.679A>T n.588A>T c.4176A>T (p.Leu1392=) c.3861A>T (p.Leu1287=) c.1758A>T (p.Leu586=) c.4200A>T (p.Leu1400=) c.4191A>T (p.Leu1397=) c.4182A>T (p.Leu1394=) c.2520A>T (p.Leu840=) | |
| X | g.108681858C>A | CA413852354 | COL4A5 | c.4186C>A (p.Pro1396Thr) c.4168C>A (p.Pro1390Thr) n.680C>A n.589C>A c.4177C>A (p.Pro1393Thr) c.3862C>A (p.Pro1288Thr) c.1759C>A (p.Pro587Thr) c.4201C>A (p.Pro1401Thr) c.4192C>A (p.Pro1398Thr) c.4183C>A (p.Pro1395Thr) c.2521C>A (p.Pro841Thr) | |
| X | g.108681858C= | CA2450717246 | COL4A5 | c.4186C= (p.Pro1396=) c.4168C= (p.Pro1390=) n.680C= n.589C= c.4177C= (p.Pro1393=) c.3862C= (p.Pro1288=) c.1759C= (p.Pro587=) c.4201C= (p.Pro1401=) c.4192C= (p.Pro1398=) c.4183C= (p.Pro1395=) c.2521C= (p.Pro841=) | |
| X | g.108681858C>G | CA413852356 | COL4A5 | c.4186C>G (p.Pro1396Ala) c.4168C>G (p.Pro1390Ala) n.680C>G n.589C>G c.4177C>G (p.Pro1393Ala) c.3862C>G (p.Pro1288Ala) c.1759C>G (p.Pro587Ala) c.4201C>G (p.Pro1401Ala) c.4192C>G (p.Pro1398Ala) c.4183C>G (p.Pro1395Ala) c.2521C>G (p.Pro841Ala) | |
| X | g.108681858C>T | CA413852359 | COL4A5 | c.4186C>T (p.Pro1396Ser) c.4168C>T (p.Pro1390Ser) n.680C>T n.589C>T c.4177C>T (p.Pro1393Ser) c.3862C>T (p.Pro1288Ser) c.1759C>T (p.Pro587Ser) c.4201C>T (p.Pro1401Ser) c.4192C>T (p.Pro1398Ser) c.4183C>T (p.Pro1395Ser) c.2521C>T (p.Pro841Ser) | dbSNP COSMIC COSMIC |
| X | g.108681859C>A | CA413852369 | COL4A5 | c.4187C>A (p.Pro1396Gln) c.4169C>A (p.Pro1390Gln) n.681C>A n.590C>A c.4178C>A (p.Pro1393Gln) c.3863C>A (p.Pro1288Gln) c.1760C>A (p.Pro587Gln) c.4202C>A (p.Pro1401Gln) c.4193C>A (p.Pro1398Gln) c.4184C>A (p.Pro1395Gln) c.2522C>A (p.Pro841Gln) | |
| X | g.108681859C= | CA2450717247 | COL4A5 | c.4187C= (p.Pro1396=) c.4169C= (p.Pro1390=) n.681C= n.590C= c.4178C= (p.Pro1393=) c.3863C= (p.Pro1288=) c.1760C= (p.Pro587=) c.4202C= (p.Pro1401=) c.4193C= (p.Pro1398=) c.4184C= (p.Pro1395=) c.2522C= (p.Pro841=) | |
| X | g.108681859C>G | CA413852366 | COL4A5 | c.4187C>G (p.Pro1396Arg) c.4169C>G (p.Pro1390Arg) n.681C>G n.590C>G c.4178C>G (p.Pro1393Arg) c.3863C>G (p.Pro1288Arg) c.1760C>G (p.Pro587Arg) c.4202C>G (p.Pro1401Arg) c.4193C>G (p.Pro1398Arg) c.4184C>G (p.Pro1395Arg) c.2522C>G (p.Pro841Arg) | |
| X | g.108681859C>T | CA413852364 | COL4A5 | c.4187C>T (p.Pro1396Leu) c.4169C>T (p.Pro1390Leu) n.681C>T n.590C>T c.4178C>T (p.Pro1393Leu) c.3863C>T (p.Pro1288Leu) c.1760C>T (p.Pro587Leu) c.4202C>T (p.Pro1401Leu) c.4193C>T (p.Pro1398Leu) c.4184C>T (p.Pro1395Leu) c.2522C>T (p.Pro841Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681860A>C | CA517923867 | COL4A5 | c.4188A>C (p.Pro1396=) c.4170A>C (p.Pro1390=) n.682A>C n.591A>C c.4179A>C (p.Pro1393=) c.3864A>C (p.Pro1288=) c.1761A>C (p.Pro587=) c.4203A>C (p.Pro1401=) c.4194A>C (p.Pro1398=) c.4185A>C (p.Pro1395=) c.2523A>C (p.Pro841=) | |
| X | g.108681860A>G | CA517923869 | COL4A5 | c.4188A>G (p.Pro1396=) c.4170A>G (p.Pro1390=) n.682A>G n.591A>G c.4179A>G (p.Pro1393=) c.3864A>G (p.Pro1288=) c.1761A>G (p.Pro587=) c.4203A>G (p.Pro1401=) c.4194A>G (p.Pro1398=) c.4185A>G (p.Pro1395=) c.2523A>G (p.Pro841=) | gnomAD v4 |
| X | g.108681860A>T | CA517923868 | COL4A5 | c.4188A>T (p.Pro1396=) c.4170A>T (p.Pro1390=) n.682A>T n.591A>T c.4179A>T (p.Pro1393=) c.3864A>T (p.Pro1288=) c.1761A>T (p.Pro587=) c.4203A>T (p.Pro1401=) c.4194A>T (p.Pro1398=) c.4185A>T (p.Pro1395=) c.2523A>T (p.Pro841=) | |
| X | g.108681861G>A | CA413852370 | COL4A5 | c.4189G>A (p.Gly1397Arg) c.4171G>A (p.Gly1391Arg) n.683G>A n.592G>A c.4180G>A (p.Gly1394Arg) c.3865G>A (p.Gly1289Arg) c.1762G>A (p.Gly588Arg) c.4204G>A (p.Gly1402Arg) c.4195G>A (p.Gly1399Arg) c.4186G>A (p.Gly1396Arg) c.2524G>A (p.Gly842Arg) | |
| X | g.108681861G>C | CA413852371 | COL4A5 | c.4189G>C (p.Gly1397Arg) c.4171G>C (p.Gly1391Arg) n.683G>C n.592G>C c.4180G>C (p.Gly1394Arg) c.3865G>C (p.Gly1289Arg) c.1762G>C (p.Gly588Arg) c.4204G>C (p.Gly1402Arg) c.4195G>C (p.Gly1399Arg) c.4186G>C (p.Gly1396Arg) c.2524G>C (p.Gly842Arg) | |
| X | g.108681861G= | CA2450717248 | COL4A5 | c.4189G= (p.Gly1397=) c.4171G= (p.Gly1391=) n.683G= n.592G= c.4180G= (p.Gly1394=) c.3865G= (p.Gly1289=) c.1762G= (p.Gly588=) c.4204G= (p.Gly1402=) c.4195G= (p.Gly1399=) c.4186G= (p.Gly1396=) c.2524G= (p.Gly842=) | |
| X | g.108681861G>T | CA258994 | COL4A5 | c.4189G>T (p.Gly1397Ter) c.4171G>T (p.Gly1391Ter) n.683G>T n.592G>T c.4180G>T (p.Gly1394Ter) c.3865G>T (p.Gly1289Ter) c.1762G>T (p.Gly588Ter) c.4204G>T (p.Gly1402Ter) c.4195G>T (p.Gly1399Ter) c.4186G>T (p.Gly1396Ter) c.2524G>T (p.Gly842Ter) | dbSNP |
| X | g.108681862G>A | CA413852372 | COL4A5 | c.4190G>A (p.Gly1397Glu) c.4172G>A (p.Gly1391Glu) n.684G>A n.593G>A c.4181G>A (p.Gly1394Glu) c.3866G>A (p.Gly1289Glu) c.1763G>A (p.Gly588Glu) c.4205G>A (p.Gly1402Glu) c.4196G>A (p.Gly1399Glu) c.4187G>A (p.Gly1396Glu) c.2525G>A (p.Gly842Glu) | |
| X | g.108681862G>C | CA413852373 | COL4A5 | c.4190G>C (p.Gly1397Ala) c.4172G>C (p.Gly1391Ala) n.684G>C n.593G>C c.4181G>C (p.Gly1394Ala) c.3866G>C (p.Gly1289Ala) c.1763G>C (p.Gly588Ala) c.4205G>C (p.Gly1402Ala) c.4196G>C (p.Gly1399Ala) c.4187G>C (p.Gly1396Ala) c.2525G>C (p.Gly842Ala) | |
| X | g.108681862G>T | CA413852374 | COL4A5 | c.4190G>T (p.Gly1397Val) c.4172G>T (p.Gly1391Val) n.684G>T n.593G>T c.4181G>T (p.Gly1394Val) c.3866G>T (p.Gly1289Val) c.1763G>T (p.Gly588Val) c.4205G>T (p.Gly1402Val) c.4196G>T (p.Gly1399Val) c.4187G>T (p.Gly1396Val) c.2525G>T (p.Gly842Val) | |
| X | g.108681863A>C | CA517923870 | COL4A5 | c.4191A>C (p.Gly1397=) c.4173A>C (p.Gly1391=) n.685A>C n.594A>C c.4182A>C (p.Gly1394=) c.3867A>C (p.Gly1289=) c.1764A>C (p.Gly588=) c.4206A>C (p.Gly1402=) c.4197A>C (p.Gly1399=) c.4188A>C (p.Gly1396=) c.2526A>C (p.Gly842=) | gnomAD v4 |
| X | g.108681863A>G | CA517923871 | COL4A5 | c.4191A>G (p.Gly1397=) c.4173A>G (p.Gly1391=) n.685A>G n.594A>G c.4182A>G (p.Gly1394=) c.3867A>G (p.Gly1289=) c.1764A>G (p.Gly588=) c.4206A>G (p.Gly1402=) c.4197A>G (p.Gly1399=) c.4188A>G (p.Gly1396=) c.2526A>G (p.Gly842=) | |
| X | g.108681863A>T | CA517923872 | COL4A5 | c.4191A>T (p.Gly1397=) c.4173A>T (p.Gly1391=) n.685A>T n.594A>T c.4182A>T (p.Gly1394=) c.3867A>T (p.Gly1289=) c.1764A>T (p.Gly588=) c.4206A>T (p.Gly1402=) c.4197A>T (p.Gly1399=) c.4188A>T (p.Gly1396=) c.2526A>T (p.Gly842=) | |
| X | g.108681863_108681864delinsAC | CA2450717249 | COL4A5 | c.4191_4192delinsAC (p.Gly1397=) c.4173_4174delinsAC (p.Gly1391=) n.685_686delinsAC n.594_595delinsAC c.4182_4183delinsAC (p.Gly1394=) c.3867_3868delinsAC (p.Gly1289=) c.1764_1765delinsAC (p.Gly588=) c.4206_4207delinsAC (p.Gly1402=) c.4197_4198delinsAC (p.Gly1399=) c.4188_4189delinsAC (p.Gly1396=) c.2526_2527delinsAC (p.Gly842=) | |
| X | g.108681864C>A | CA413852379 | COL4A5 | c.4192C>A (p.Pro1398Thr) c.4174C>A (p.Pro1392Thr) n.686C>A n.595C>A c.4183C>A (p.Pro1395Thr) c.3868C>A (p.Pro1290Thr) c.1765C>A (p.Pro589Thr) c.4207C>A (p.Pro1403Thr) c.4198C>A (p.Pro1400Thr) c.4189C>A (p.Pro1397Thr) c.2527C>A (p.Pro843Thr) | gnomAD v4 |
| X | g.108681864C>G | CA413852389 | COL4A5 | c.4192C>G (p.Pro1398Ala) c.4174C>G (p.Pro1392Ala) n.686C>G n.595C>G c.4183C>G (p.Pro1395Ala) c.3868C>G (p.Pro1290Ala) c.1765C>G (p.Pro589Ala) c.4207C>G (p.Pro1403Ala) c.4198C>G (p.Pro1400Ala) c.4189C>G (p.Pro1397Ala) c.2527C>G (p.Pro843Ala) | |
| X | g.108681864C>T | CA413852377 | COL4A5 | c.4192C>T (p.Pro1398Ser) c.4174C>T (p.Pro1392Ser) n.686C>T n.595C>T c.4183C>T (p.Pro1395Ser) c.3868C>T (p.Pro1290Ser) c.1765C>T (p.Pro589Ser) c.4207C>T (p.Pro1403Ser) c.4198C>T (p.Pro1400Ser) c.4189C>T (p.Pro1397Ser) c.2527C>T (p.Pro843Ser) | |
| X | g.108681867del | CA259001 | COL4A5 | c.4195del (p.Gln1399LysfsTer?) c.4177del (p.Gln1393LysfsTer?) n.689del n.598del c.4186del (p.Gln1396LysfsTer?) c.3871del (p.Gln1291LysfsTer?) c.1768del (p.Gln590LysfsTer?) c.4210del (p.Gln1404LysfsTer?) c.4201del (p.Gln1401LysfsTer?) c.4192del (p.Gln1398LysfsTer?) c.2530del (p.Gln844LysfsTer?) | dbSNP |
| X | g.108681865C>A | CA413852396 | COL4A5 | c.4193C>A (p.Pro1398His) c.4175C>A (p.Pro1392His) n.687C>A n.596C>A c.4184C>A (p.Pro1395His) c.3869C>A (p.Pro1290His) c.1766C>A (p.Pro589His) c.4208C>A (p.Pro1403His) c.4199C>A (p.Pro1400His) c.4190C>A (p.Pro1397His) c.2528C>A (p.Pro843His) | gnomAD v4 |
| X | g.108681865C= | CA2450717250 | COL4A5 | c.4193C= (p.Pro1398=) c.4175C= (p.Pro1392=) n.687C= n.596C= c.4184C= (p.Pro1395=) c.3869C= (p.Pro1290=) c.1766C= (p.Pro589=) c.4208C= (p.Pro1403=) c.4199C= (p.Pro1400=) c.4190C= (p.Pro1397=) c.2528C= (p.Pro843=) | |
| X | g.108681865C>G | CA413852397 | COL4A5 | c.4193C>G (p.Pro1398Arg) c.4175C>G (p.Pro1392Arg) n.687C>G n.596C>G c.4184C>G (p.Pro1395Arg) c.3869C>G (p.Pro1290Arg) c.1766C>G (p.Pro589Arg) c.4208C>G (p.Pro1403Arg) c.4199C>G (p.Pro1400Arg) c.4190C>G (p.Pro1397Arg) c.2528C>G (p.Pro843Arg) | dbSNP gnomAD v4 |
| X | g.108681865C>T | CA413852398 | COL4A5 | c.4193C>T (p.Pro1398Leu) c.4175C>T (p.Pro1392Leu) n.687C>T n.596C>T c.4184C>T (p.Pro1395Leu) c.3869C>T (p.Pro1290Leu) c.1766C>T (p.Pro589Leu) c.4208C>T (p.Pro1403Leu) c.4199C>T (p.Pro1400Leu) c.4190C>T (p.Pro1397Leu) c.2528C>T (p.Pro843Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681866C>A | CA517923873 | COL4A5 | c.4194C>A (p.Pro1398=) c.4176C>A (p.Pro1392=) n.688C>A n.597C>A c.4185C>A (p.Pro1395=) c.3870C>A (p.Pro1290=) c.1767C>A (p.Pro589=) c.4209C>A (p.Pro1403=) c.4200C>A (p.Pro1400=) c.4191C>A (p.Pro1397=) c.2529C>A (p.Pro843=) | |
| X | g.108681866C= | CA2450717251 | COL4A5 | c.4194C= (p.Pro1398=) c.4176C= (p.Pro1392=) n.688C= n.597C= c.4185C= (p.Pro1395=) c.3870C= (p.Pro1290=) c.1767C= (p.Pro589=) c.4209C= (p.Pro1403=) c.4200C= (p.Pro1400=) c.4191C= (p.Pro1397=) c.2529C= (p.Pro843=) | |
| X | g.108681866C>G | CA517923874 | COL4A5 | c.4194C>G (p.Pro1398=) c.4176C>G (p.Pro1392=) n.688C>G n.597C>G c.4185C>G (p.Pro1395=) c.3870C>G (p.Pro1290=) c.1767C>G (p.Pro589=) c.4209C>G (p.Pro1403=) c.4200C>G (p.Pro1400=) c.4191C>G (p.Pro1397=) c.2529C>G (p.Pro843=) | dbSNP |
| X | g.108681866C>T | CA517923875 | COL4A5 | c.4194C>T (p.Pro1398=) c.4176C>T (p.Pro1392=) n.688C>T n.597C>T c.4185C>T (p.Pro1395=) c.3870C>T (p.Pro1290=) c.1767C>T (p.Pro589=) c.4209C>T (p.Pro1403=) c.4200C>T (p.Pro1400=) c.4191C>T (p.Pro1397=) c.2529C>T (p.Pro843=) | |
| X | g.108681867C>A | CA413852399 | COL4A5 | c.4195C>A (p.Gln1399Lys) c.4177C>A (p.Gln1393Lys) n.689C>A n.598C>A c.4186C>A (p.Gln1396Lys) c.3871C>A (p.Gln1291Lys) c.1768C>A (p.Gln590Lys) c.4210C>A (p.Gln1404Lys) c.4201C>A (p.Gln1401Lys) c.4192C>A (p.Gln1398Lys) c.2530C>A (p.Gln844Lys) | |
| X | g.108681867C= | CA2450717253 | COL4A5 | c.4195C= (p.Gln1399=) c.4177C= (p.Gln1393=) n.689C= n.598C= c.4186C= (p.Gln1396=) c.3871C= (p.Gln1291=) c.1768C= (p.Gln590=) c.4210C= (p.Gln1404=) c.4201C= (p.Gln1401=) c.4192C= (p.Gln1398=) c.2530C= (p.Gln844=) | |
| X | g.108681867C>G | CA413852400 | COL4A5 | c.4195C>G (p.Gln1399Glu) c.4177C>G (p.Gln1393Glu) n.689C>G n.598C>G c.4186C>G (p.Gln1396Glu) c.3871C>G (p.Gln1291Glu) c.1768C>G (p.Gln590Glu) c.4210C>G (p.Gln1404Glu) c.4201C>G (p.Gln1401Glu) c.4192C>G (p.Gln1398Glu) c.2530C>G (p.Gln844Glu) | |
| X | g.108681867C>T | CA258998 | COL4A5 | c.4195C>T (p.Gln1399Ter) c.4177C>T (p.Gln1393Ter) n.689C>T n.598C>T c.4186C>T (p.Gln1396Ter) c.3871C>T (p.Gln1291Ter) c.1768C>T (p.Gln590Ter) c.4210C>T (p.Gln1404Ter) c.4201C>T (p.Gln1401Ter) c.4192C>T (p.Gln1398Ter) c.2530C>T (p.Gln844Ter) | dbSNP |
| X | g.108681867_108681868delinsCA | CA2450717252 | COL4A5 | c.4195_4196delinsCA (p.Gln1399=) c.4177_4178delinsCA (p.Gln1393=) n.689_690delinsCA n.598_599delinsCA c.4186_4187delinsCA (p.Gln1396=) c.3871_3872delinsCA (p.Gln1291=) c.1768_1769delinsCA (p.Gln590=) c.4210_4211delinsCA (p.Gln1404=) c.4201_4202delinsCA (p.Gln1401=) c.4192_4193delinsCA (p.Gln1398=) c.2530_2531delinsCA (p.Gln844=) | |
| X | g.108681868A= | CA2450717254 | COL4A5 | c.4196A= (p.Gln1399=) c.4178A= (p.Gln1393=) n.690A= n.599A= c.4187A= (p.Gln1396=) c.3872A= (p.Gln1291=) c.1769A= (p.Gln590=) c.4211A= (p.Gln1404=) c.4202A= (p.Gln1401=) c.4193A= (p.Gln1398=) c.2531A= (p.Gln844=) | |
| X | g.108681868A>C | CA413852406 | COL4A5 | c.4196A>C (p.Gln1399Pro) c.4178A>C (p.Gln1393Pro) n.690A>C n.599A>C c.4187A>C (p.Gln1396Pro) c.3872A>C (p.Gln1291Pro) c.1769A>C (p.Gln590Pro) c.4211A>C (p.Gln1404Pro) c.4202A>C (p.Gln1401Pro) c.4193A>C (p.Gln1398Pro) c.2531A>C (p.Gln844Pro) | |
| X | g.108681868A>G | CA413852405 | COL4A5 | c.4196A>G (p.Gln1399Arg) c.4178A>G (p.Gln1393Arg) n.690A>G n.599A>G c.4187A>G (p.Gln1396Arg) c.3872A>G (p.Gln1291Arg) c.1769A>G (p.Gln590Arg) c.4211A>G (p.Gln1404Arg) c.4202A>G (p.Gln1401Arg) c.4193A>G (p.Gln1398Arg) c.2531A>G (p.Gln844Arg) | |
| X | g.108681868A>T | CA413852403 | COL4A5 | c.4196A>T (p.Gln1399Leu) c.4178A>T (p.Gln1393Leu) n.690A>T n.599A>T c.4187A>T (p.Gln1396Leu) c.3872A>T (p.Gln1291Leu) c.1769A>T (p.Gln590Leu) c.4211A>T (p.Gln1404Leu) c.4202A>T (p.Gln1401Leu) c.4193A>T (p.Gln1398Leu) c.2531A>T (p.Gln844Leu) | |
| X | g.108681869del | CA915951309 | COL4A5 | c.4197del (p.Gly1400AspfsTer?) c.4179del (p.Gly1394AspfsTer?) n.691del n.600del c.4188del (p.Gly1397AspfsTer?) c.3873del (p.Gly1292AspfsTer?) c.1770del (p.Gly591AspfsTer?) c.4212del (p.Gly1405AspfsTer?) c.4203del (p.Gly1402AspfsTer?) c.4194del (p.Gly1399AspfsTer?) c.2532del (p.Gly845AspfsTer?) | ClinVar dbSNP |
| X | g.108681868_108681872delinsAAGGA | CA2450717255 | COL4A5 | c.4196_4200delinsAAGGA (p.Gln1399=) c.4178_4182delinsAAGGA (p.Gln1393=) n.690_694delinsAAGGA n.599_603delinsAAGGA c.4187_4191delinsAAGGA (p.Gln1396=) c.3872_3876delinsAAGGA (p.Gln1291=) c.1769_1773delinsAAGGA (p.Gln590=) c.4211_4215delinsAAGGA (p.Gln1404=) c.4202_4206delinsAAGGA (p.Gln1401=) c.4193_4197delinsAAGGA (p.Gln1398=) c.2531_2535delinsAAGGA (p.Gln844=) | |
| X | g.108681868_108681869insC | CA334055385 | COL4A5 | c.4196_4197insC (p.Gln1399HisfsTer25) c.4178_4179insC (p.Gln1393HisfsTer25) n.690_691insC n.599_600insC c.4187_4188insC (p.Gln1396HisfsTer25) c.3872_3873insC (p.Gln1291HisfsTer25) c.1769_1770insC (p.Gln590HisfsTer25) c.4211_4212insC (p.Gln1404HisfsTer25) c.4202_4203insC (p.Gln1401HisfsTer25) c.4193_4194insC (p.Gln1398HisfsTer25) c.2531_2532insC (p.Gln844HisfsTer25) | dbSNP |
| X | g.108681869A>C | CA413852412 | COL4A5 | c.4197A>C (p.Gln1399His) c.4179A>C (p.Gln1393His) n.691A>C n.600A>C c.4188A>C (p.Gln1396His) c.3873A>C (p.Gln1291His) c.1770A>C (p.Gln590His) c.4212A>C (p.Gln1404His) c.4203A>C (p.Gln1401His) c.4194A>C (p.Gln1398His) c.2532A>C (p.Gln844His) | |
| X | g.108681869A>G | CA517923876 | COL4A5 | c.4197A>G (p.Gln1399=) c.4179A>G (p.Gln1393=) n.691A>G n.600A>G c.4188A>G (p.Gln1396=) c.3873A>G (p.Gln1291=) c.1770A>G (p.Gln590=) c.4212A>G (p.Gln1404=) c.4203A>G (p.Gln1401=) c.4194A>G (p.Gln1398=) c.2532A>G (p.Gln844=) | ClinVar dbSNP gnomAD v4 |
| X | g.108681869A>T | CA413852413 | COL4A5 | c.4197A>T (p.Gln1399His) c.4179A>T (p.Gln1393His) n.691A>T n.600A>T c.4188A>T (p.Gln1396His) c.3873A>T (p.Gln1291His) c.1770A>T (p.Gln590His) c.4212A>T (p.Gln1404His) c.4203A>T (p.Gln1401His) c.4194A>T (p.Gln1398His) c.2532A>T (p.Gln844His) | |
| X | g.108681869_108681872delinsGGG | CA915951310 | COL4A5 | c.4197_4200delinsGGG (p.Pro1401LeufsTer?) c.4179_4182delinsGGG (p.Pro1395LeufsTer?) n.691_694delinsGGG n.600_603delinsGGG c.4188_4191delinsGGG (p.Pro1398LeufsTer?) c.3873_3876delinsGGG (p.Pro1293LeufsTer?) c.1770_1773delinsGGG (p.Pro592LeufsTer?) c.4212_4215delinsGGG (p.Pro1406LeufsTer?) c.4203_4206delinsGGG (p.Pro1403LeufsTer?) c.4194_4197delinsGGG (p.Pro1400LeufsTer?) c.2532_2535delinsGGG (p.Pro846LeufsTer?) | ClinVar dbSNP |
| X | g.108681870G>A | CA334055393 | COL4A5 | c.4198G>A (p.Gly1400Arg) c.4180G>A (p.Gly1394Arg) n.692G>A n.601G>A c.4189G>A (p.Gly1397Arg) c.3874G>A (p.Gly1292Arg) c.1771G>A (p.Gly591Arg) c.4213G>A (p.Gly1405Arg) c.4204G>A (p.Gly1402Arg) c.4195G>A (p.Gly1399Arg) c.2533G>A (p.Gly845Arg) | dbSNP |
| X | g.108681870G>C | CA413852417 | COL4A5 | c.4198G>C (p.Gly1400Arg) c.4180G>C (p.Gly1394Arg) n.692G>C n.601G>C c.4189G>C (p.Gly1397Arg) c.3874G>C (p.Gly1292Arg) c.1771G>C (p.Gly591Arg) c.4213G>C (p.Gly1405Arg) c.4204G>C (p.Gly1402Arg) c.4195G>C (p.Gly1399Arg) c.2533G>C (p.Gly845Arg) | |
| X | g.108681870G= | CA2450717256 | COL4A5 | c.4198G= (p.Gly1400=) c.4180G= (p.Gly1394=) n.692G= n.601G= c.4189G= (p.Gly1397=) c.3874G= (p.Gly1292=) c.1771G= (p.Gly591=) c.4213G= (p.Gly1405=) c.4204G= (p.Gly1402=) c.4195G= (p.Gly1399=) c.2533G= (p.Gly845=) | |
| X | g.108681870G>T | CA413852419 | COL4A5 | c.4198G>T (p.Gly1400Ter) c.4180G>T (p.Gly1394Ter) n.692G>T n.601G>T c.4189G>T (p.Gly1397Ter) c.3874G>T (p.Gly1292Ter) c.1771G>T (p.Gly591Ter) c.4213G>T (p.Gly1405Ter) c.4204G>T (p.Gly1402Ter) c.4195G>T (p.Gly1399Ter) c.2533G>T (p.Gly845Ter) | ClinVar |
| X | g.108681871G>A | CA413852421 | COL4A5 | c.4199G>A (p.Gly1400Glu) c.4181G>A (p.Gly1394Glu) n.693G>A n.602G>A c.4190G>A (p.Gly1397Glu) c.3875G>A (p.Gly1292Glu) c.1772G>A (p.Gly591Glu) c.4214G>A (p.Gly1405Glu) c.4205G>A (p.Gly1402Glu) c.4196G>A (p.Gly1399Glu) c.2534G>A (p.Gly845Glu) | |
| X | g.108681871G>C | CA413852422 | COL4A5 | c.4199G>C (p.Gly1400Ala) c.4181G>C (p.Gly1394Ala) n.693G>C n.602G>C c.4190G>C (p.Gly1397Ala) c.3875G>C (p.Gly1292Ala) c.1772G>C (p.Gly591Ala) c.4214G>C (p.Gly1405Ala) c.4205G>C (p.Gly1402Ala) c.4196G>C (p.Gly1399Ala) c.2534G>C (p.Gly845Ala) | |
| X | g.108681871G>T | CA413852423 | COL4A5 | c.4199G>T (p.Gly1400Val) c.4181G>T (p.Gly1394Val) n.693G>T n.602G>T c.4190G>T (p.Gly1397Val) c.3875G>T (p.Gly1292Val) c.1772G>T (p.Gly591Val) c.4214G>T (p.Gly1405Val) c.4205G>T (p.Gly1402Val) c.4196G>T (p.Gly1399Val) c.2534G>T (p.Gly845Val) | |
| X | g.108681872A= | CA2450717258 | COL4A5 | c.4200A= (p.Gly1400=) c.4182A= (p.Gly1394=) n.694A= n.603A= c.4191A= (p.Gly1397=) c.3876A= (p.Gly1292=) c.1773A= (p.Gly591=) c.4215A= (p.Gly1405=) c.4206A= (p.Gly1402=) c.4197A= (p.Gly1399=) c.2535A= (p.Gly845=) | |
| X | g.108681872A>C | CA517923877 | COL4A5 | c.4200A>C (p.Gly1400=) c.4182A>C (p.Gly1394=) n.694A>C n.603A>C c.4191A>C (p.Gly1397=) c.3876A>C (p.Gly1292=) c.1773A>C (p.Gly591=) c.4215A>C (p.Gly1405=) c.4206A>C (p.Gly1402=) c.4197A>C (p.Gly1399=) c.2535A>C (p.Gly845=) | |
| X | g.108681872A>G | CA517923878 | COL4A5 | c.4200A>G (p.Gly1400=) c.4182A>G (p.Gly1394=) n.694A>G n.603A>G c.4191A>G (p.Gly1397=) c.3876A>G (p.Gly1292=) c.1773A>G (p.Gly591=) c.4215A>G (p.Gly1405=) c.4206A>G (p.Gly1402=) c.4197A>G (p.Gly1399=) c.2535A>G (p.Gly845=) | ClinVar dbSNP |
| X | g.108681872A>T | CA517923879 | COL4A5 | c.4200A>T (p.Gly1400=) c.4182A>T (p.Gly1394=) n.694A>T n.603A>T c.4191A>T (p.Gly1397=) c.3876A>T (p.Gly1292=) c.1773A>T (p.Gly591=) c.4215A>T (p.Gly1405=) c.4206A>T (p.Gly1402=) c.4197A>T (p.Gly1399=) c.2535A>T (p.Gly845=) | |
| X | g.108681872_108681873delinsAC | CA2450717257 | COL4A5 | c.4200_4201delinsAC (p.Gly1400=) c.4182_4183delinsAC (p.Gly1394=) n.694_695delinsAC n.603_604delinsAC c.4191_4192delinsAC (p.Gly1397=) c.3876_3877delinsAC (p.Gly1292=) c.1773_1774delinsAC (p.Gly591=) c.4215_4216delinsAC (p.Gly1405=) c.4206_4207delinsAC (p.Gly1402=) c.4197_4198delinsAC (p.Gly1399=) c.2535_2536delinsAC (p.Gly845=) | |
| X | g.108681873C>A | CA413852425 | COL4A5 | c.4201C>A (p.Pro1401Thr) c.4183C>A (p.Pro1395Thr) n.695C>A n.604C>A c.4192C>A (p.Pro1398Thr) c.3877C>A (p.Pro1293Thr) c.1774C>A (p.Pro592Thr) c.4216C>A (p.Pro1406Thr) c.4207C>A (p.Pro1403Thr) c.4198C>A (p.Pro1400Thr) c.2536C>A (p.Pro846Thr) | |
| X | g.108681873C>G | CA413852428 | COL4A5 | c.4201C>G (p.Pro1401Ala) c.4183C>G (p.Pro1395Ala) n.695C>G n.604C>G c.4192C>G (p.Pro1398Ala) c.3877C>G (p.Pro1293Ala) c.1774C>G (p.Pro592Ala) c.4216C>G (p.Pro1406Ala) c.4207C>G (p.Pro1403Ala) c.4198C>G (p.Pro1400Ala) c.2536C>G (p.Pro846Ala) | |
| X | g.108681873C>T | CA413852424 | COL4A5 | c.4201C>T (p.Pro1401Ser) c.4183C>T (p.Pro1395Ser) n.695C>T n.604C>T c.4192C>T (p.Pro1398Ser) c.3877C>T (p.Pro1293Ser) c.1774C>T (p.Pro592Ser) c.4216C>T (p.Pro1406Ser) c.4207C>T (p.Pro1403Ser) c.4198C>T (p.Pro1400Ser) c.2536C>T (p.Pro846Ser) | gnomAD v4 |
| X | g.108681874del | CA891843687 | COL4A5 | c.4202del (p.Pro1401LeufsTer?) c.4184del (p.Pro1395LeufsTer?) n.696del n.605del c.4193del (p.Pro1398LeufsTer?) c.3878del (p.Pro1293LeufsTer?) c.1775del (p.Pro592LeufsTer?) c.4217del (p.Pro1406LeufsTer?) c.4208del (p.Pro1403LeufsTer?) c.4199del (p.Pro1400LeufsTer?) c.2537del (p.Pro846LeufsTer?) | |
| X | g.108681874C>A | CA10489301 | COL4A5 | c.4202C>A (p.Pro1401His) c.4184C>A (p.Pro1395His) n.696C>A n.605C>A c.4193C>A (p.Pro1398His) c.3878C>A (p.Pro1293His) c.1775C>A (p.Pro592His) c.4217C>A (p.Pro1406His) c.4208C>A (p.Pro1403His) c.4199C>A (p.Pro1400His) c.2537C>A (p.Pro846His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681874C= | CA2450717259 | COL4A5 | c.4202C= (p.Pro1401=) c.4184C= (p.Pro1395=) n.696C= n.605C= c.4193C= (p.Pro1398=) c.3878C= (p.Pro1293=) c.1775C= (p.Pro592=) c.4217C= (p.Pro1406=) c.4208C= (p.Pro1403=) c.4199C= (p.Pro1400=) c.2537C= (p.Pro846=) | |
| X | g.108681874C>G | CA413852431 | COL4A5 | c.4202C>G (p.Pro1401Arg) c.4184C>G (p.Pro1395Arg) n.696C>G n.605C>G c.4193C>G (p.Pro1398Arg) c.3878C>G (p.Pro1293Arg) c.1775C>G (p.Pro592Arg) c.4217C>G (p.Pro1406Arg) c.4208C>G (p.Pro1403Arg) c.4199C>G (p.Pro1400Arg) c.2537C>G (p.Pro846Arg) | |
| X | g.108681874C>T | CA413852433 | COL4A5 | c.4202C>T (p.Pro1401Leu) c.4184C>T (p.Pro1395Leu) n.696C>T n.605C>T c.4193C>T (p.Pro1398Leu) c.3878C>T (p.Pro1293Leu) c.1775C>T (p.Pro592Leu) c.4217C>T (p.Pro1406Leu) c.4208C>T (p.Pro1403Leu) c.4199C>T (p.Pro1400Leu) c.2537C>T (p.Pro846Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681875T>A | CA517923880 | COL4A5 | c.4203T>A (p.Pro1401=) c.4185T>A (p.Pro1395=) n.697T>A n.606T>A c.4194T>A (p.Pro1398=) c.3879T>A (p.Pro1293=) c.1776T>A (p.Pro592=) c.4218T>A (p.Pro1406=) c.4209T>A (p.Pro1403=) c.4200T>A (p.Pro1400=) c.2538T>A (p.Pro846=) | |
| X | g.108681875T>C | CA517923882 | COL4A5 | c.4203T>C (p.Pro1401=) c.4185T>C (p.Pro1395=) n.697T>C n.606T>C c.4194T>C (p.Pro1398=) c.3879T>C (p.Pro1293=) c.1776T>C (p.Pro592=) c.4218T>C (p.Pro1406=) c.4209T>C (p.Pro1403=) c.4200T>C (p.Pro1400=) c.2538T>C (p.Pro846=) | |
| X | g.108681875T>G | CA517923881 | COL4A5 | c.4203T>G (p.Pro1401=) c.4185T>G (p.Pro1395=) n.697T>G n.606T>G c.4194T>G (p.Pro1398=) c.3879T>G (p.Pro1293=) c.1776T>G (p.Pro592=) c.4218T>G (p.Pro1406=) c.4209T>G (p.Pro1403=) c.4200T>G (p.Pro1400=) c.2538T>G (p.Pro846=) | |
| X | g.108681876C>A | CA413852435 | COL4A5 | c.4204C>A (p.Gln1402Lys) c.4186C>A (p.Gln1396Lys) n.698C>A n.607C>A c.4195C>A (p.Gln1399Lys) c.3880C>A (p.Gln1294Lys) c.1777C>A (p.Gln593Lys) c.4219C>A (p.Gln1407Lys) c.4210C>A (p.Gln1404Lys) c.4201C>A (p.Gln1401Lys) c.2539C>A (p.Gln847Lys) | |
| X | g.108681876C>G | CA413852438 | COL4A5 | c.4204C>G (p.Gln1402Glu) c.4186C>G (p.Gln1396Glu) n.698C>G n.607C>G c.4195C>G (p.Gln1399Glu) c.3880C>G (p.Gln1294Glu) c.1777C>G (p.Gln593Glu) c.4219C>G (p.Gln1407Glu) c.4210C>G (p.Gln1404Glu) c.4201C>G (p.Gln1401Glu) c.2539C>G (p.Gln847Glu) | |
| X | g.108681876C>T | CA413852440 | COL4A5 | c.4204C>T (p.Gln1402Ter) c.4186C>T (p.Gln1396Ter) n.698C>T n.607C>T c.4195C>T (p.Gln1399Ter) c.3880C>T (p.Gln1294Ter) c.1777C>T (p.Gln593Ter) c.4219C>T (p.Gln1407Ter) c.4210C>T (p.Gln1404Ter) c.4201C>T (p.Gln1401Ter) c.2539C>T (p.Gln847Ter) | |
| X | g.108681877A= | CA2450717260 | COL4A5 | c.4205A= (p.Gln1402=) c.4187A= (p.Gln1396=) n.699A= n.608A= c.1A= c.4196A= (p.Gln1399=) c.3881A= (p.Gln1294=) c.1778A= (p.Gln593=) c.4220A= (p.Gln1407=) c.4211A= (p.Gln1404=) c.4202A= (p.Gln1401=) c.2540A= (p.Gln847=) | |
| X | g.108681877A>C | CA10489302 | COL4A5 | c.4205A>C (p.Gln1402Pro) c.4187A>C (p.Gln1396Pro) n.699A>C n.608A>C c.1A>C c.4196A>C (p.Gln1399Pro) c.3881A>C (p.Gln1294Pro) c.1778A>C (p.Gln593Pro) c.4220A>C (p.Gln1407Pro) c.4211A>C (p.Gln1404Pro) c.4202A>C (p.Gln1401Pro) c.2540A>C (p.Gln847Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681877A>G | CA334055409 | COL4A5 | c.4205A>G (p.Gln1402Arg) c.4187A>G (p.Gln1396Arg) n.699A>G n.608A>G c.1A>G c.4196A>G (p.Gln1399Arg) c.3881A>G (p.Gln1294Arg) c.1778A>G (p.Gln593Arg) c.4220A>G (p.Gln1407Arg) c.4211A>G (p.Gln1404Arg) c.4202A>G (p.Gln1401Arg) c.2540A>G (p.Gln847Arg) | dbSNP |
| X | g.108681877A>T | CA413852446 | COL4A5 | c.4205A>T (p.Gln1402Leu) c.4187A>T (p.Gln1396Leu) n.699A>T n.608A>T c.1A>T c.4196A>T (p.Gln1399Leu) c.3881A>T (p.Gln1294Leu) c.1778A>T (p.Gln593Leu) c.4220A>T (p.Gln1407Leu) c.4211A>T (p.Gln1404Leu) c.4202A>T (p.Gln1401Leu) c.2540A>T (p.Gln847Leu) | |
| X | g.108681878A>C | CA413852449 | COL4A5 | c.4206A>C (p.Gln1402His) c.4188A>C (p.Gln1396His) n.700A>C n.609A>C c.2A>C c.4197A>C (p.Gln1399His) c.3882A>C (p.Gln1294His) c.1779A>C (p.Gln593His) c.4221A>C (p.Gln1407His) c.4212A>C (p.Gln1404His) c.4203A>C (p.Gln1401His) c.2541A>C (p.Gln847His) | |
| X | g.108681878A>G | CA517923883 | COL4A5 | c.4206A>G (p.Gln1402=) c.4188A>G (p.Gln1396=) n.700A>G n.609A>G c.2A>G c.4197A>G (p.Gln1399=) c.3882A>G (p.Gln1294=) c.1779A>G (p.Gln593=) c.4221A>G (p.Gln1407=) c.4212A>G (p.Gln1404=) c.4203A>G (p.Gln1401=) c.2541A>G (p.Gln847=) | |
| X | g.108681878A>T | CA413852451 | COL4A5 | c.4206A>T (p.Gln1402His) c.4188A>T (p.Gln1396His) n.700A>T n.609A>T c.2A>T c.4197A>T (p.Gln1399His) c.3882A>T (p.Gln1294His) c.1779A>T (p.Gln593His) c.4221A>T (p.Gln1407His) c.4212A>T (p.Gln1404His) c.4203A>T (p.Gln1401His) c.2541A>T (p.Gln847His) | |
| X | g.108681879G>A | CA413852453 | COL4A5 | c.4207G>A (p.Gly1403Ser) c.4189G>A (p.Gly1397Ser) n.701G>A n.610G>A c.3G>A c.4198G>A (p.Gly1400Ser) c.3883G>A (p.Gly1295Ser) c.1780G>A (p.Gly594Ser) c.4222G>A (p.Gly1408Ser) c.4213G>A (p.Gly1405Ser) c.4204G>A (p.Gly1402Ser) c.2542G>A (p.Gly848Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108681879G>C | CA413852455 | COL4A5 | c.4207G>C (p.Gly1403Arg) c.4189G>C (p.Gly1397Arg) n.701G>C n.610G>C c.3G>C c.4198G>C (p.Gly1400Arg) c.3883G>C (p.Gly1295Arg) c.1780G>C (p.Gly594Arg) c.4222G>C (p.Gly1408Arg) c.4213G>C (p.Gly1405Arg) c.4204G>C (p.Gly1402Arg) c.2542G>C (p.Gly848Arg) | |
| X | g.108681879G>T | CA413852457 | COL4A5 | c.4207G>T (p.Gly1403Cys) c.4189G>T (p.Gly1397Cys) n.701G>T n.610G>T c.3G>T c.4198G>T (p.Gly1400Cys) c.3883G>T (p.Gly1295Cys) c.1780G>T (p.Gly594Cys) c.4222G>T (p.Gly1408Cys) c.4213G>T (p.Gly1405Cys) c.4204G>T (p.Gly1402Cys) c.2542G>T (p.Gly848Cys) | |
| X | g.108681880G>A | CA413852459 | COL4A5 | c.4208G>A (p.Gly1403Asp) c.4190G>A (p.Gly1397Asp) n.702G>A n.611G>A c.4G>A c.4199G>A (p.Gly1400Asp) c.3884G>A (p.Gly1295Asp) c.1781G>A (p.Gly594Asp) c.4223G>A (p.Gly1408Asp) c.4214G>A (p.Gly1405Asp) c.4205G>A (p.Gly1402Asp) c.2543G>A (p.Gly848Asp) | |
| X | g.108681880G>C | CA413852470 | COL4A5 | c.4208G>C (p.Gly1403Ala) c.4190G>C (p.Gly1397Ala) n.702G>C n.611G>C c.4G>C c.4199G>C (p.Gly1400Ala) c.3884G>C (p.Gly1295Ala) c.1781G>C (p.Gly594Ala) c.4223G>C (p.Gly1408Ala) c.4214G>C (p.Gly1405Ala) c.4205G>C (p.Gly1402Ala) c.2543G>C (p.Gly848Ala) | |
| X | g.108681880G>T | CA413852461 | COL4A5 | c.4208G>T (p.Gly1403Val) c.4190G>T (p.Gly1397Val) n.702G>T n.611G>T c.4G>T c.4199G>T (p.Gly1400Val) c.3884G>T (p.Gly1295Val) c.1781G>T (p.Gly594Val) c.4223G>T (p.Gly1408Val) c.4214G>T (p.Gly1405Val) c.4205G>T (p.Gly1402Val) c.2543G>T (p.Gly848Val) | |
| X | g.108681881C>A | CA517923884 | COL4A5 | c.4209C>A (p.Gly1403=) c.4191C>A (p.Gly1397=) n.703C>A n.612C>A c.5C>A c.4200C>A (p.Gly1400=) c.3885C>A (p.Gly1295=) c.1782C>A (p.Gly594=) c.4224C>A (p.Gly1408=) c.4215C>A (p.Gly1405=) c.4206C>A (p.Gly1402=) c.2544C>A (p.Gly848=) | |
| X | g.108681881C= | CA2450717261 | COL4A5 | c.4209C= (p.Gly1403=) c.4191C= (p.Gly1397=) n.703C= n.612C= c.5C= c.4200C= (p.Gly1400=) c.3885C= (p.Gly1295=) c.1782C= (p.Gly594=) c.4224C= (p.Gly1408=) c.4215C= (p.Gly1405=) c.4206C= (p.Gly1402=) c.2544C= (p.Gly848=) | |
| X | g.108681881C>G | CA517923885 | COL4A5 | c.4209C>G (p.Gly1403=) c.4191C>G (p.Gly1397=) n.703C>G n.612C>G c.5C>G c.4200C>G (p.Gly1400=) c.3885C>G (p.Gly1295=) c.1782C>G (p.Gly594=) c.4224C>G (p.Gly1408=) c.4215C>G (p.Gly1405=) c.4206C>G (p.Gly1402=) c.2544C>G (p.Gly848=) | |
| X | g.108681881C>T | CA10489303 | COL4A5 | c.4209C>T (p.Gly1403=) c.4191C>T (p.Gly1397=) n.703C>T n.612C>T c.5C>T c.4200C>T (p.Gly1400=) c.3885C>T (p.Gly1295=) c.1782C>T (p.Gly594=) c.4224C>T (p.Gly1408=) c.4215C>T (p.Gly1405=) c.4206C>T (p.Gly1402=) c.2544C>T (p.Gly848=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681882T>A | CA413852475 | COL4A5 | c.4210T>A (p.Leu1404Ile) c.4192T>A (p.Leu1398Ile) n.704T>A n.613T>A c.6T>A c.4201T>A (p.Leu1401Ile) c.3886T>A (p.Leu1296Ile) c.1783T>A (p.Leu595Ile) c.4225T>A (p.Leu1409Ile) c.4216T>A (p.Leu1406Ile) c.4207T>A (p.Leu1403Ile) c.2545T>A (p.Leu849Ile) | |
| X | g.108681882T>C | CA517923887 | COL4A5 | c.4210T>C (p.Leu1404=) c.4192T>C (p.Leu1398=) n.704T>C n.613T>C c.6T>C c.4201T>C (p.Leu1401=) c.3886T>C (p.Leu1296=) c.1783T>C (p.Leu595=) c.4225T>C (p.Leu1409=) c.4216T>C (p.Leu1406=) c.4207T>C (p.Leu1403=) c.2545T>C (p.Leu849=) | |
| X | g.108681882T>G | CA413852478 | COL4A5 | c.4210T>G (p.Leu1404Val) c.4192T>G (p.Leu1398Val) n.704T>G n.613T>G c.6T>G c.4201T>G (p.Leu1401Val) c.3886T>G (p.Leu1296Val) c.1783T>G (p.Leu595Val) c.4225T>G (p.Leu1409Val) c.4216T>G (p.Leu1406Val) c.4207T>G (p.Leu1403Val) c.2545T>G (p.Leu849Val) | |
| X | g.108681883T>A | CA413852485 | COL4A5 | c.4211T>A (p.Leu1404Ter) c.4193T>A (p.Leu1398Ter) n.705T>A n.614T>A c.7T>A c.4202T>A (p.Leu1401Ter) c.3887T>A (p.Leu1296Ter) c.1784T>A (p.Leu595Ter) c.4226T>A (p.Leu1409Ter) c.4217T>A (p.Leu1406Ter) c.4208T>A (p.Leu1403Ter) c.2546T>A (p.Leu849Ter) | ClinVar |
| X | g.108681883T>C | CA413852487 | COL4A5 | c.4211T>C (p.Leu1404Ser) c.4193T>C (p.Leu1398Ser) n.705T>C n.614T>C c.7T>C c.4202T>C (p.Leu1401Ser) c.3887T>C (p.Leu1296Ser) c.1784T>C (p.Leu595Ser) c.4226T>C (p.Leu1409Ser) c.4217T>C (p.Leu1406Ser) c.4208T>C (p.Leu1403Ser) c.2546T>C (p.Leu849Ser) | |
| X | g.108681883T>G | CA413852497 | COL4A5 | c.4211T>G (p.Leu1404Ter) c.4193T>G (p.Leu1398Ter) n.705T>G n.614T>G c.7T>G c.4202T>G (p.Leu1401Ter) c.3887T>G (p.Leu1296Ter) c.1784T>G (p.Leu595Ter) c.4226T>G (p.Leu1409Ter) c.4217T>G (p.Leu1406Ter) c.4208T>G (p.Leu1403Ter) c.2546T>G (p.Leu849Ter) | |
| X | g.108681884A= | CA2450717262 | COL4A5 | c.4212A= (p.Leu1404=) c.4194A= (p.Leu1398=) n.706A= n.615A= c.8A= c.4203A= (p.Leu1401=) c.3888A= (p.Leu1296=) c.1785A= (p.Leu595=) c.4227A= (p.Leu1409=) c.4218A= (p.Leu1406=) c.4209A= (p.Leu1403=) c.2547A= (p.Leu849=) | |
| X | g.108681884A>C | CA413852504 | COL4A5 | c.4212A>C (p.Leu1404Phe) c.4194A>C (p.Leu1398Phe) n.706A>C n.615A>C c.8A>C c.4203A>C (p.Leu1401Phe) c.3888A>C (p.Leu1296Phe) c.1785A>C (p.Leu595Phe) c.4227A>C (p.Leu1409Phe) c.4218A>C (p.Leu1406Phe) c.4209A>C (p.Leu1403Phe) c.2547A>C (p.Leu849Phe) | |
| X | g.108681884A>G | CA517923888 | COL4A5 | c.4212A>G (p.Leu1404=) c.4194A>G (p.Leu1398=) n.706A>G n.615A>G c.8A>G c.4203A>G (p.Leu1401=) c.3888A>G (p.Leu1296=) c.1785A>G (p.Leu595=) c.4227A>G (p.Leu1409=) c.4218A>G (p.Leu1406=) c.4209A>G (p.Leu1403=) c.2547A>G (p.Leu849=) | |
| X | g.108681884A>T | CA413852505 | COL4A5 | c.4212A>T (p.Leu1404Phe) c.4194A>T (p.Leu1398Phe) n.706A>T n.615A>T c.8A>T c.4203A>T (p.Leu1401Phe) c.3888A>T (p.Leu1296Phe) c.1785A>T (p.Leu595Phe) c.4227A>T (p.Leu1409Phe) c.4218A>T (p.Leu1406Phe) c.4209A>T (p.Leu1403Phe) c.2547A>T (p.Leu849Phe) | |
| X | g.108681885C>A | CA413852508 | COL4A5 | c.4213C>A (p.Pro1405Thr) c.4195C>A (p.Pro1399Thr) n.707C>A n.616C>A c.9C>A c.4204C>A (p.Pro1402Thr) c.3889C>A (p.Pro1297Thr) c.1786C>A (p.Pro596Thr) c.4228C>A (p.Pro1410Thr) c.4219C>A (p.Pro1407Thr) c.4210C>A (p.Pro1404Thr) c.2548C>A (p.Pro850Thr) | |
| X | g.108681885C= | CA2450717263 | COL4A5 | c.4213C= (p.Pro1405=) c.4195C= (p.Pro1399=) n.707C= n.616C= c.9C= c.4204C= (p.Pro1402=) c.3889C= (p.Pro1297=) c.1786C= (p.Pro596=) c.4228C= (p.Pro1410=) c.4219C= (p.Pro1407=) c.4210C= (p.Pro1404=) c.2548C= (p.Pro850=) | |
| X | g.108681885C>G | CA10489304 | COL4A5 | c.4213C>G (p.Pro1405Ala) c.4195C>G (p.Pro1399Ala) n.707C>G n.616C>G c.9C>G c.4204C>G (p.Pro1402Ala) c.3889C>G (p.Pro1297Ala) c.1786C>G (p.Pro596Ala) c.4228C>G (p.Pro1410Ala) c.4219C>G (p.Pro1407Ala) c.4210C>G (p.Pro1404Ala) c.2548C>G (p.Pro850Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681885C>T | CA413852511 | COL4A5 | c.4213C>T (p.Pro1405Ser) c.4195C>T (p.Pro1399Ser) n.707C>T n.616C>T c.9C>T c.4204C>T (p.Pro1402Ser) c.3889C>T (p.Pro1297Ser) c.1786C>T (p.Pro596Ser) c.4228C>T (p.Pro1410Ser) c.4219C>T (p.Pro1407Ser) c.4210C>T (p.Pro1404Ser) c.2548C>T (p.Pro850Ser) | gnomAD v4 |
| X | g.108681886dup | CA259002 | COL4A5 | c.4214dup (p.Gly1406ArgfsTer18) c.4196dup (p.Gly1400ArgfsTer18) n.708dup n.617dup c.10dup c.4205dup (p.Gly1403ArgfsTer18) c.3890dup (p.Gly1298ArgfsTer18) c.1787dup (p.Gly597ArgfsTer18) c.4229dup (p.Gly1411ArgfsTer18) c.4220dup (p.Gly1408ArgfsTer18) c.4211dup (p.Gly1405ArgfsTer18) c.2549dup (p.Gly851ArgfsTer18) | dbSNP |
| X | g.108681886C>A | CA413852514 | COL4A5 | c.4214C>A (p.Pro1405Gln) c.4196C>A (p.Pro1399Gln) n.708C>A n.617C>A c.10C>A c.4205C>A (p.Pro1402Gln) c.3890C>A (p.Pro1297Gln) c.1787C>A (p.Pro596Gln) c.4229C>A (p.Pro1410Gln) c.4220C>A (p.Pro1407Gln) c.4211C>A (p.Pro1404Gln) c.2549C>A (p.Pro850Gln) | |
| X | g.108681886C>G | CA413852519 | COL4A5 | c.4214C>G (p.Pro1405Arg) c.4196C>G (p.Pro1399Arg) n.708C>G n.617C>G c.10C>G c.4205C>G (p.Pro1402Arg) c.3890C>G (p.Pro1297Arg) c.1787C>G (p.Pro596Arg) c.4229C>G (p.Pro1410Arg) c.4220C>G (p.Pro1407Arg) c.4211C>G (p.Pro1404Arg) c.2549C>G (p.Pro850Arg) | |
| X | g.108681886C>T | CA413852516 | COL4A5 | c.4214C>T (p.Pro1405Leu) c.4196C>T (p.Pro1399Leu) n.708C>T n.617C>T c.10C>T c.4205C>T (p.Pro1402Leu) c.3890C>T (p.Pro1297Leu) c.1787C>T (p.Pro596Leu) c.4229C>T (p.Pro1410Leu) c.4220C>T (p.Pro1407Leu) c.4211C>T (p.Pro1404Leu) c.2549C>T (p.Pro850Leu) | |
| X | g.108681887A>C | CA517923889 | COL4A5 | c.4215A>C (p.Pro1405=) c.4197A>C (p.Pro1399=) n.709A>C n.618A>C c.11A>C c.4206A>C (p.Pro1402=) c.3891A>C (p.Pro1297=) c.1788A>C (p.Pro596=) c.4230A>C (p.Pro1410=) c.4221A>C (p.Pro1407=) c.4212A>C (p.Pro1404=) c.2550A>C (p.Pro850=) | |
| X | g.108681887A>G | CA517923890 | COL4A5 | c.4215A>G (p.Pro1405=) c.4197A>G (p.Pro1399=) n.709A>G n.618A>G c.11A>G c.4206A>G (p.Pro1402=) c.3891A>G (p.Pro1297=) c.1788A>G (p.Pro596=) c.4230A>G (p.Pro1410=) c.4221A>G (p.Pro1407=) c.4212A>G (p.Pro1404=) c.2550A>G (p.Pro850=) | gnomAD v4 |
| X | g.108681887A>T | CA517923891 | COL4A5 | c.4215A>T (p.Pro1405=) c.4197A>T (p.Pro1399=) n.709A>T n.618A>T c.11A>T c.4206A>T (p.Pro1402=) c.3891A>T (p.Pro1297=) c.1788A>T (p.Pro596=) c.4230A>T (p.Pro1410=) c.4221A>T (p.Pro1407=) c.4212A>T (p.Pro1404=) c.2550A>T (p.Pro850=) | |
| X | g.108681887_108681889delinsAGG | CA2450717264 | COL4A5 | c.4215_4216+1delinsAGG c.4197_4198+1delinsAGG n.709_710+1delinsAGG n.618_619+1delinsAGG c.11_12+1delinsAGG c.4206_4207+1delinsAGG c.3891_3892+1delinsAGG c.1788_1789+1delinsAGG c.4230_4231+1delinsAGG c.4221_4222+1delinsAGG c.4212_4213+1delinsAGG c.2550_2551+1delinsAGG | |
| X | g.108681888G>A | CA413852522 | COL4A5 | c.4216G>A (p.Gly1406Ser) c.4198G>A (p.Gly1400Ser) n.710G>A n.619G>A c.12G>A c.4207G>A (p.Gly1403Ser) c.3892G>A (p.Gly1298Ser) c.1789G>A (p.Gly597Ser) c.4231G>A (p.Gly1411Ser) c.4222G>A (p.Gly1408Ser) c.4213G>A (p.Gly1405Ser) c.2551G>A (p.Gly851Ser) | |
| X | g.108681888G>C | CA413852526 | COL4A5 | c.4216G>C (p.Gly1406Arg) c.4198G>C (p.Gly1400Arg) n.710G>C n.619G>C c.12G>C c.4207G>C (p.Gly1403Arg) c.3892G>C (p.Gly1298Arg) c.1789G>C (p.Gly597Arg) c.4231G>C (p.Gly1411Arg) c.4222G>C (p.Gly1408Arg) c.4213G>C (p.Gly1405Arg) c.2551G>C (p.Gly851Arg) | |
| X | g.108681888G>T | CA413852523 | COL4A5 | c.4216G>T (p.Gly1406Cys) c.4198G>T (p.Gly1400Cys) n.710G>T n.619G>T c.12G>T c.4207G>T (p.Gly1403Cys) c.3892G>T (p.Gly1298Cys) c.1789G>T (p.Gly597Cys) c.4231G>T (p.Gly1411Cys) c.4222G>T (p.Gly1408Cys) c.4213G>T (p.Gly1405Cys) c.2551G>T (p.Gly851Cys) | |
| X | g.108681888_108681889del | CA891843688 | COL4A5 | c.4216_4216+1del c.4198_4198+1del n.710_710+1del n.619_619+1del c.12_12+1del c.4207_4207+1del c.3892_3892+1del c.1789_1789+1del c.4231_4231+1del c.4222_4222+1del c.4213_4213+1del c.2551_2551+1del | |
| X | g.108681889G>A | CA413852529 | COL4A5 | c.4216+1G>A (n.4216+1G>A) c.4198+1G>A (n.4198+1G>A) n.710+1G>A n.619+1G>A c.12+1G>A c.4207+1G>A (n.4207+1G>A) c.3892+1G>A (n.3892+1G>A) c.1789+1G>A (n.1789+1G>A) c.4231+1G>A (n.4231+1G>A) c.4222+1G>A (n.4222+1G>A) c.4213+1G>A (n.4213+1G>A) c.2551+1G>A (n.2551+1G>A) | |
| X | g.108681889G>C | CA413852533 | COL4A5 | c.4216+1G>C (n.4216+1G>C) c.4198+1G>C (n.4198+1G>C) n.710+1G>C n.619+1G>C c.12+1G>C c.4207+1G>C (n.4207+1G>C) c.3892+1G>C (n.3892+1G>C) c.1789+1G>C (n.1789+1G>C) c.4231+1G>C (n.4231+1G>C) c.4222+1G>C (n.4222+1G>C) c.4213+1G>C (n.4213+1G>C) c.2551+1G>C (n.2551+1G>C) | |
| X | g.108681889G>T | CA413852532 | COL4A5 | c.4216+1G>T (n.4216+1G>T) c.4198+1G>T (n.4198+1G>T) n.710+1G>T n.619+1G>T c.12+1G>T c.4207+1G>T (n.4207+1G>T) c.3892+1G>T (n.3892+1G>T) c.1789+1G>T (n.1789+1G>T) c.4231+1G>T (n.4231+1G>T) c.4222+1G>T (n.4222+1G>T) c.4213+1G>T (n.4213+1G>T) c.2551+1G>T (n.2551+1G>T) | |
| X | g.108681889_108681894dup | CA2499226329 | COL4A5 | c.4216+1_4216+6dup (n.4216+1_4216+6dup) c.4198+1_4198+6dup (n.4198+1_4198+6dup) n.710+1_710+6dup n.619+1_619+6dup c.12+1_12+6dup c.4207+1_4207+6dup (n.4207+1_4207+6dup) c.3892+1_3892+6dup (n.3892+1_3892+6dup) c.1789+1_1789+6dup (n.1789+1_1789+6dup) c.4231+1_4231+6dup (n.4231+1_4231+6dup) c.4222+1_4222+6dup (n.4222+1_4222+6dup) c.4213+1_4213+6dup (n.4213+1_4213+6dup) c.2551+1_2551+6dup (n.2551+1_2551+6dup) | ClinVar dbSNP |
| X | g.108681890T>A | CA413852537 | COL4A5 | c.4216+2T>A (n.4216+2T>A) c.4198+2T>A (n.4198+2T>A) n.710+2T>A n.619+2T>A c.12+2T>A c.4207+2T>A (n.4207+2T>A) c.3892+2T>A (n.3892+2T>A) c.1789+2T>A (n.1789+2T>A) c.4231+2T>A (n.4231+2T>A) c.4222+2T>A (n.4222+2T>A) c.4213+2T>A (n.4213+2T>A) c.2551+2T>A (n.2551+2T>A) | |
| X | g.108681890T>C | CA413852541 | COL4A5 | c.4216+2T>C (n.4216+2T>C) c.4198+2T>C (n.4198+2T>C) n.710+2T>C n.619+2T>C c.12+2T>C c.4207+2T>C (n.4207+2T>C) c.3892+2T>C (n.3892+2T>C) c.1789+2T>C (n.1789+2T>C) c.4231+2T>C (n.4231+2T>C) c.4222+2T>C (n.4222+2T>C) c.4213+2T>C (n.4213+2T>C) c.2551+2T>C (n.2551+2T>C) | |
| X | g.108681890T>G | CA413852539 | COL4A5 | c.4216+2T>G (n.4216+2T>G) c.4198+2T>G (n.4198+2T>G) n.710+2T>G n.619+2T>G c.12+2T>G c.4207+2T>G (n.4207+2T>G) c.3892+2T>G (n.3892+2T>G) c.1789+2T>G (n.1789+2T>G) c.4231+2T>G (n.4231+2T>G) c.4222+2T>G (n.4222+2T>G) c.4213+2T>G (n.4213+2T>G) c.2551+2T>G (n.2551+2T>G) | dbSNP |
| X | g.108681890T= | CA2450717265 | COL4A5 | c.4216+2T= (n.4216+2T=) c.4198+2T= (n.4198+2T=) n.710+2T= n.619+2T= c.12+2T= c.4207+2T= (n.4207+2T=) c.3892+2T= (n.3892+2T=) c.1789+2T= (n.1789+2T=) c.4231+2T= (n.4231+2T=) c.4222+2T= (n.4222+2T=) c.4213+2T= (n.4213+2T=) c.2551+2T= (n.2551+2T=) | |
| X | g.108681892C>G | CA2579677103 | COL4A5 | c.4216+4C>G (n.4216+4C>G) c.4198+4C>G (n.4198+4C>G) n.710+4C>G n.619+4C>G c.12+4C>G c.4207+4C>G (n.4207+4C>G) c.3892+4C>G (n.3892+4C>G) c.1789+4C>G (n.1789+4C>G) c.4231+4C>G (n.4231+4C>G) c.4222+4C>G (n.4222+4C>G) c.4213+4C>G (n.4213+4C>G) c.2551+4C>G (n.2551+4C>G) | |
| X | g.108681893C>A | CA2694414437 | COL4A5 | c.4216+5C>A (n.4216+5C>A) c.4198+5C>A (n.4198+5C>A) n.710+5C>A n.619+5C>A c.12+5C>A c.4207+5C>A (n.4207+5C>A) c.3892+5C>A (n.3892+5C>A) c.1789+5C>A (n.1789+5C>A) c.4231+5C>A (n.4231+5C>A) c.4222+5C>A (n.4222+5C>A) c.4213+5C>A (n.4213+5C>A) c.2551+5C>A (n.2551+5C>A) | gnomAD v4 |
| X | g.108681895A= | CA2450717266 | COL4A5 | c.4216+7A= (n.4216+7A=) c.4198+7A= (n.4198+7A=) n.710+7A= n.619+7A= c.12+7A= c.4207+7A= (n.4207+7A=) c.3892+7A= (n.3892+7A=) c.1789+7A= (n.1789+7A=) c.4231+7A= (n.4231+7A=) c.4222+7A= (n.4222+7A=) c.4213+7A= (n.4213+7A=) c.2551+7A= (n.2551+7A=) | |
| X | g.108681895A>G | CA334055437 | COL4A5 | c.4216+7A>G (n.4216+7A>G) c.4198+7A>G (n.4198+7A>G) n.710+7A>G n.619+7A>G c.12+7A>G c.4207+7A>G (n.4207+7A>G) c.3892+7A>G (n.3892+7A>G) c.1789+7A>G (n.1789+7A>G) c.4231+7A>G (n.4231+7A>G) c.4222+7A>G (n.4222+7A>G) c.4213+7A>G (n.4213+7A>G) c.2551+7A>G (n.2551+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681897G>A | CA10489305 | COL4A5 | c.4216+9G>A (n.4216+9G>A) c.4198+9G>A (n.4198+9G>A) n.710+9G>A n.619+9G>A c.12+9G>A c.4207+9G>A (n.4207+9G>A) c.3892+9G>A (n.3892+9G>A) c.1789+9G>A (n.1789+9G>A) c.4231+9G>A (n.4231+9G>A) c.4222+9G>A (n.4222+9G>A) c.4213+9G>A (n.4213+9G>A) c.2551+9G>A (n.2551+9G>A) | dbSNP ExAC gnomAD v2 |
| X | g.108681897G= | CA2450717267 | COL4A5 | c.4216+9G= (n.4216+9G=) c.4198+9G= (n.4198+9G=) n.710+9G= n.619+9G= c.12+9G= c.4207+9G= (n.4207+9G=) c.3892+9G= (n.3892+9G=) c.1789+9G= (n.1789+9G=) c.4231+9G= (n.4231+9G=) c.4222+9G= (n.4222+9G=) c.4213+9G= (n.4213+9G=) c.2551+9G= (n.2551+9G=) | |
| X | g.108681898C= | CA2450717268 | COL4A5 | c.4216+10C= (n.4216+10C=) c.4198+10C= (n.4198+10C=) n.710+10C= n.619+10C= c.12+10C= c.4207+10C= (n.4207+10C=) c.3892+10C= (n.3892+10C=) c.1789+10C= (n.1789+10C=) c.4231+10C= (n.4231+10C=) c.4222+10C= (n.4222+10C=) c.4213+10C= (n.4213+10C=) c.2551+10C= (n.2551+10C=) | |
| X | g.108681898C>T | CA10489306 | COL4A5 | c.4216+10C>T (n.4216+10C>T) c.4198+10C>T (n.4198+10C>T) n.710+10C>T n.619+10C>T c.12+10C>T c.4207+10C>T (n.4207+10C>T) c.3892+10C>T (n.3892+10C>T) c.1789+10C>T (n.1789+10C>T) c.4231+10C>T (n.4231+10C>T) c.4222+10C>T (n.4222+10C>T) c.4213+10C>T (n.4213+10C>T) c.2551+10C>T (n.2551+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681898_108681899del | CA2579677104 | COL4A5 | c.4216+10_4216+11del (n.4216+10_4216+11del) c.4198+10_4198+11del (n.4198+10_4198+11del) n.710+10_710+11del n.619+10_619+11del c.12+10_12+11del c.4207+10_4207+11del (n.4207+10_4207+11del) c.3892+10_3892+11del (n.3892+10_3892+11del) c.1789+10_1789+11del (n.1789+10_1789+11del) c.4231+10_4231+11del (n.4231+10_4231+11del) c.4222+10_4222+11del (n.4222+10_4222+11del) c.4213+10_4213+11del (n.4213+10_4213+11del) c.2551+10_2551+11del (n.2551+10_2551+11del) | |
| X | g.108681901A= | CA2450717269 | COL4A5 | c.4216+13A= (n.4216+13A=) c.4198+13A= (n.4198+13A=) n.710+13A= n.619+13A= c.12+13A= c.4207+13A= (n.4207+13A=) c.3892+13A= (n.3892+13A=) c.1789+13A= (n.1789+13A=) c.4231+13A= (n.4231+13A=) c.4222+13A= (n.4222+13A=) c.4213+13A= (n.4213+13A=) c.2551+13A= (n.2551+13A=) | |
| X | g.108681901A>G | CA2694414439 | COL4A5 | c.4216+13A>G (n.4216+13A>G) c.4198+13A>G (n.4198+13A>G) n.710+13A>G n.619+13A>G c.12+13A>G c.4207+13A>G (n.4207+13A>G) c.3892+13A>G (n.3892+13A>G) c.1789+13A>G (n.1789+13A>G) c.4231+13A>G (n.4231+13A>G) c.4222+13A>G (n.4222+13A>G) c.4213+13A>G (n.4213+13A>G) c.2551+13A>G (n.2551+13A>G) | gnomAD v4 |
| X | g.108681901A>T | CA643637032 | COL4A5 | c.4216+13A>T (n.4216+13A>T) c.4198+13A>T (n.4198+13A>T) n.710+13A>T n.619+13A>T c.12+13A>T c.4207+13A>T (n.4207+13A>T) c.3892+13A>T (n.3892+13A>T) c.1789+13A>T (n.1789+13A>T) c.4231+13A>T (n.4231+13A>T) c.4222+13A>T (n.4222+13A>T) c.4213+13A>T (n.4213+13A>T) c.2551+13A>T (n.2551+13A>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108681906_108681917del | CA2694414438 | COL4A5 | c.4216+18_4216+29del (n.4216+18_4216+29del) c.4198+18_4198+29del (n.4198+18_4198+29del) n.710+18_710+29del n.619+18_619+29del c.12+18_12+29del c.4207+18_4207+29del (n.4207+18_4207+29del) c.3892+18_3892+29del (n.3892+18_3892+29del) c.1789+18_1789+29del (n.1789+18_1789+29del) c.4231+18_4231+29del (n.4231+18_4231+29del) c.4222+18_4222+29del (n.4222+18_4222+29del) c.4213+18_4213+29del (n.4213+18_4213+29del) c.2551+18_2551+29del (n.2551+18_2551+29del) | gnomAD v4 |
| X | g.108681903C= | CA2450717270 | COL4A5 | c.4216+15C= (n.4216+15C=) c.4198+15C= (n.4198+15C=) n.710+15C= n.619+15C= c.12+15C= c.4207+15C= (n.4207+15C=) c.3892+15C= (n.3892+15C=) c.1789+15C= (n.1789+15C=) c.4231+15C= (n.4231+15C=) c.4222+15C= (n.4222+15C=) c.4213+15C= (n.4213+15C=) c.2551+15C= (n.2551+15C=) | |
| X | g.108681903C>T | CA10489307 | COL4A5 | c.4216+15C>T (n.4216+15C>T) c.4198+15C>T (n.4198+15C>T) n.710+15C>T n.619+15C>T c.12+15C>T c.4207+15C>T (n.4207+15C>T) c.3892+15C>T (n.3892+15C>T) c.1789+15C>T (n.1789+15C>T) c.4231+15C>T (n.4231+15C>T) c.4222+15C>T (n.4222+15C>T) c.4213+15C>T (n.4213+15C>T) c.2551+15C>T (n.2551+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681904A>C | CA2694414440 | COL4A5 | c.4216+16A>C (n.4216+16A>C) c.4198+16A>C (n.4198+16A>C) n.710+16A>C n.619+16A>C c.12+16A>C c.4207+16A>C (n.4207+16A>C) c.3892+16A>C (n.3892+16A>C) c.1789+16A>C (n.1789+16A>C) c.4231+16A>C (n.4231+16A>C) c.4222+16A>C (n.4222+16A>C) c.4213+16A>C (n.4213+16A>C) c.2551+16A>C (n.2551+16A>C) | gnomAD v4 |
| X | g.108681905T>A | CA10489308 | COL4A5 | c.4216+17T>A (n.4216+17T>A) c.4198+17T>A (n.4198+17T>A) n.710+17T>A n.619+17T>A c.12+17T>A c.4207+17T>A (n.4207+17T>A) c.3892+17T>A (n.3892+17T>A) c.1789+17T>A (n.1789+17T>A) c.4231+17T>A (n.4231+17T>A) c.4222+17T>A (n.4222+17T>A) c.4213+17T>A (n.4213+17T>A) c.2551+17T>A (n.2551+17T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681905T>C | CA643637033 | COL4A5 | c.4216+17T>C (n.4216+17T>C) c.4198+17T>C (n.4198+17T>C) n.710+17T>C n.619+17T>C c.12+17T>C c.4207+17T>C (n.4207+17T>C) c.3892+17T>C (n.3892+17T>C) c.1789+17T>C (n.1789+17T>C) c.4231+17T>C (n.4231+17T>C) c.4222+17T>C (n.4222+17T>C) c.4213+17T>C (n.4213+17T>C) c.2551+17T>C (n.2551+17T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681905T= | CA2450717271 | COL4A5 | c.4216+17T= (n.4216+17T=) c.4198+17T= (n.4198+17T=) n.710+17T= n.619+17T= c.12+17T= c.4207+17T= (n.4207+17T=) c.3892+17T= (n.3892+17T=) c.1789+17T= (n.1789+17T=) c.4231+17T= (n.4231+17T=) c.4222+17T= (n.4222+17T=) c.4213+17T= (n.4213+17T=) c.2551+17T= (n.2551+17T=) | |
| X | g.108681906C>T | CA2694414441 | COL4A5 | c.4216+18C>T (n.4216+18C>T) c.4198+18C>T (n.4198+18C>T) n.710+18C>T n.619+18C>T c.12+18C>T c.4207+18C>T (n.4207+18C>T) c.3892+18C>T (n.3892+18C>T) c.1789+18C>T (n.1789+18C>T) c.4231+18C>T (n.4231+18C>T) c.4222+18C>T (n.4222+18C>T) c.4213+18C>T (n.4213+18C>T) c.2551+18C>T (n.2551+18C>T) | gnomAD v4 |
| X | g.108681911T>A | CA10489309 | COL4A5 | c.4216+23T>A (n.4216+23T>A) c.4198+23T>A (n.4198+23T>A) n.710+23T>A n.619+23T>A c.12+23T>A c.4207+23T>A (n.4207+23T>A) c.3892+23T>A (n.3892+23T>A) c.1789+23T>A (n.1789+23T>A) c.4231+23T>A (n.4231+23T>A) c.4222+23T>A (n.4222+23T>A) c.4213+23T>A (n.4213+23T>A) c.2551+23T>A (n.2551+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681911T= | CA2450717272 | COL4A5 | c.4216+23T= (n.4216+23T=) c.4198+23T= (n.4198+23T=) n.710+23T= n.619+23T= c.12+23T= c.4207+23T= (n.4207+23T=) c.3892+23T= (n.3892+23T=) c.1789+23T= (n.1789+23T=) c.4231+23T= (n.4231+23T=) c.4222+23T= (n.4222+23T=) c.4213+23T= (n.4213+23T=) c.2551+23T= (n.2551+23T=) | |
| X | g.108681912del | CA2822902297 | COL4A5 | c.4216+24del (n.4216+24del) c.4198+24del (n.4198+24del) n.710+24del n.619+24del c.12+24del c.4207+24del (n.4207+24del) c.3892+24del (n.3892+24del) c.1789+24del (n.1789+24del) c.4231+24del (n.4231+24del) c.4222+24del (n.4222+24del) c.4213+24del (n.4213+24del) c.2551+24del (n.2551+24del) | |
| X | g.108681914T>C | CA2694414442 | COL4A5 | c.4216+26T>C (n.4216+26T>C) c.4198+26T>C (n.4198+26T>C) n.710+26T>C n.619+26T>C c.12+26T>C c.4207+26T>C (n.4207+26T>C) c.3892+26T>C (n.3892+26T>C) c.1789+26T>C (n.1789+26T>C) c.4231+26T>C (n.4231+26T>C) c.4222+26T>C (n.4222+26T>C) c.4213+26T>C (n.4213+26T>C) c.2551+26T>C (n.2551+26T>C) | gnomAD v4 |
| X | g.108681915C>A | CA2694414443 | COL4A5 | c.4216+27C>A (n.4216+27C>A) c.4198+27C>A (n.4198+27C>A) n.710+27C>A n.619+27C>A c.12+27C>A c.4207+27C>A (n.4207+27C>A) c.3892+27C>A (n.3892+27C>A) c.1789+27C>A (n.1789+27C>A) c.4231+27C>A (n.4231+27C>A) c.4222+27C>A (n.4222+27C>A) c.4213+27C>A (n.4213+27C>A) c.2551+27C>A (n.2551+27C>A) | gnomAD v4 |
| X | g.108681916A>G | CA2694414444 | COL4A5 | c.4216+28A>G (n.4216+28A>G) c.4198+28A>G (n.4198+28A>G) n.710+28A>G n.619+28A>G c.12+28A>G c.4207+28A>G (n.4207+28A>G) c.3892+28A>G (n.3892+28A>G) c.1789+28A>G (n.1789+28A>G) c.4231+28A>G (n.4231+28A>G) c.4222+28A>G (n.4222+28A>G) c.4213+28A>G (n.4213+28A>G) c.2551+28A>G (n.2551+28A>G) | gnomAD v4 |
| X | g.108681918T>G | CA10489310 | COL4A5 | c.4216+30T>G (n.4216+30T>G) c.4198+30T>G (n.4198+30T>G) n.710+30T>G n.619+30T>G c.12+30T>G c.4207+30T>G (n.4207+30T>G) c.3892+30T>G (n.3892+30T>G) c.1789+30T>G (n.1789+30T>G) c.4231+30T>G (n.4231+30T>G) c.4222+30T>G (n.4222+30T>G) c.4213+30T>G (n.4213+30T>G) c.2551+30T>G (n.2551+30T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681918T= | CA2450717273 | COL4A5 | c.4216+30T= (n.4216+30T=) c.4198+30T= (n.4198+30T=) n.710+30T= n.619+30T= c.12+30T= c.4207+30T= (n.4207+30T=) c.3892+30T= (n.3892+30T=) c.1789+30T= (n.1789+30T=) c.4231+30T= (n.4231+30T=) c.4222+30T= (n.4222+30T=) c.4213+30T= (n.4213+30T=) c.2551+30T= (n.2551+30T=) | |
| X | g.108681919A= | CA2450717274 | COL4A5 | c.4216+31A= (n.4216+31A=) c.4198+31A= (n.4198+31A=) n.710+31A= n.619+31A= c.12+31A= c.4207+31A= (n.4207+31A=) c.3892+31A= (n.3892+31A=) c.1789+31A= (n.1789+31A=) c.4231+31A= (n.4231+31A=) c.4222+31A= (n.4222+31A=) c.4213+31A= (n.4213+31A=) c.2551+31A= (n.2551+31A=) | |
| X | g.108681919A>C | CA10489311 | COL4A5 | c.4216+31A>C (n.4216+31A>C) c.4198+31A>C (n.4198+31A>C) n.710+31A>C n.619+31A>C c.12+31A>C c.4207+31A>C (n.4207+31A>C) c.3892+31A>C (n.3892+31A>C) c.1789+31A>C (n.1789+31A>C) c.4231+31A>C (n.4231+31A>C) c.4222+31A>C (n.4222+31A>C) c.4213+31A>C (n.4213+31A>C) c.2551+31A>C (n.2551+31A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681921del | CA2694414445 | COL4A5 | c.4216+33del (n.4216+33del) c.4198+33del (n.4198+33del) n.710+33del n.619+33del c.12+33del c.4207+33del (n.4207+33del) c.3892+33del (n.3892+33del) c.1789+33del (n.1789+33del) c.4231+33del (n.4231+33del) c.4222+33del (n.4222+33del) c.4213+33del (n.4213+33del) c.2551+33del (n.2551+33del) | gnomAD v4 |
| X | g.108681921T>C | CA10489312 | COL4A5 | c.4216+33T>C (n.4216+33T>C) c.4198+33T>C (n.4198+33T>C) n.710+33T>C n.619+33T>C c.12+33T>C c.4207+33T>C (n.4207+33T>C) c.3892+33T>C (n.3892+33T>C) c.1789+33T>C (n.1789+33T>C) c.4231+33T>C (n.4231+33T>C) c.4222+33T>C (n.4222+33T>C) c.4213+33T>C (n.4213+33T>C) c.2551+33T>C (n.2551+33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681921T= | CA2450717275 | COL4A5 | c.4216+33T= (n.4216+33T=) c.4198+33T= (n.4198+33T=) n.710+33T= n.619+33T= c.12+33T= c.4207+33T= (n.4207+33T=) c.3892+33T= (n.3892+33T=) c.1789+33T= (n.1789+33T=) c.4231+33T= (n.4231+33T=) c.4222+33T= (n.4222+33T=) c.4213+33T= (n.4213+33T=) c.2551+33T= (n.2551+33T=) | |
| X | g.108681922A>G | CA2694414446 | COL4A5 | c.4216+34A>G (n.4216+34A>G) c.4198+34A>G (n.4198+34A>G) n.710+34A>G n.619+34A>G c.12+34A>G c.4207+34A>G (n.4207+34A>G) c.3892+34A>G (n.3892+34A>G) c.1789+34A>G (n.1789+34A>G) c.4231+34A>G (n.4231+34A>G) c.4222+34A>G (n.4222+34A>G) c.4213+34A>G (n.4213+34A>G) c.2551+34A>G (n.2551+34A>G) | gnomAD v4 |
| X | g.108681923T>C | CA2694414447 | COL4A5 | c.4216+35T>C (n.4216+35T>C) c.4198+35T>C (n.4198+35T>C) n.710+35T>C n.619+35T>C c.12+35T>C c.4207+35T>C (n.4207+35T>C) c.3892+35T>C (n.3892+35T>C) c.1789+35T>C (n.1789+35T>C) c.4231+35T>C (n.4231+35T>C) c.4222+35T>C (n.4222+35T>C) c.4213+35T>C (n.4213+35T>C) c.2551+35T>C (n.2551+35T>C) | gnomAD v4 |
| X | g.108681923T>G | CA2694414448 | COL4A5 | c.4216+35T>G (n.4216+35T>G) c.4198+35T>G (n.4198+35T>G) n.710+35T>G n.619+35T>G c.12+35T>G c.4207+35T>G (n.4207+35T>G) c.3892+35T>G (n.3892+35T>G) c.1789+35T>G (n.1789+35T>G) c.4231+35T>G (n.4231+35T>G) c.4222+35T>G (n.4222+35T>G) c.4213+35T>G (n.4213+35T>G) c.2551+35T>G (n.2551+35T>G) | gnomAD v4 |
| X | g.108681924A= | CA2450717276 | COL4A5 | c.4216+36A= (n.4216+36A=) c.4198+36A= (n.4198+36A=) n.710+36A= n.619+36A= c.12+36A= c.4207+36A= (n.4207+36A=) c.3892+36A= (n.3892+36A=) c.1789+36A= (n.1789+36A=) c.4231+36A= (n.4231+36A=) c.4222+36A= (n.4222+36A=) c.4213+36A= (n.4213+36A=) c.2551+36A= (n.2551+36A=) | |
| X | g.108681924A>G | CA1136193361 | COL4A5 | c.4216+36A>G (n.4216+36A>G) c.4198+36A>G (n.4198+36A>G) n.710+36A>G n.619+36A>G c.12+36A>G c.4207+36A>G (n.4207+36A>G) c.3892+36A>G (n.3892+36A>G) c.1789+36A>G (n.1789+36A>G) c.4231+36A>G (n.4231+36A>G) c.4222+36A>G (n.4222+36A>G) c.4213+36A>G (n.4213+36A>G) c.2551+36A>G (n.2551+36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108681925C>A | CA2694414449 | COL4A5 | c.4216+37C>A (n.4216+37C>A) c.4198+37C>A (n.4198+37C>A) n.710+37C>A n.619+37C>A c.12+37C>A c.4207+37C>A (n.4207+37C>A) c.3892+37C>A (n.3892+37C>A) c.1789+37C>A (n.1789+37C>A) c.4231+37C>A (n.4231+37C>A) c.4222+37C>A (n.4222+37C>A) c.4213+37C>A (n.4213+37C>A) c.2551+37C>A (n.2551+37C>A) | gnomAD v4 |
| X | g.108681925C>T | CA2694414450 | COL4A5 | c.4216+37C>T (n.4216+37C>T) c.4198+37C>T (n.4198+37C>T) n.710+37C>T n.619+37C>T c.12+37C>T c.4207+37C>T (n.4207+37C>T) c.3892+37C>T (n.3892+37C>T) c.1789+37C>T (n.1789+37C>T) c.4231+37C>T (n.4231+37C>T) c.4222+37C>T (n.4222+37C>T) c.4213+37C>T (n.4213+37C>T) c.2551+37C>T (n.2551+37C>T) | gnomAD v4 |
| X | g.108681925_108681926delinsCT | CA2450717277 | COL4A5 | c.4216+37_4216+38delinsCT (n.4216+37_4216+38delinsCT) c.4198+37_4198+38delinsCT (n.4198+37_4198+38delinsCT) n.710+37_710+38delinsCT n.619+37_619+38delinsCT c.12+37_12+38delinsCT c.4207+37_4207+38delinsCT (n.4207+37_4207+38delinsCT) c.3892+37_3892+38delinsCT (n.3892+37_3892+38delinsCT) c.1789+37_1789+38delinsCT (n.1789+37_1789+38delinsCT) c.4231+37_4231+38delinsCT (n.4231+37_4231+38delinsCT) c.4222+37_4222+38delinsCT (n.4222+37_4222+38delinsCT) c.4213+37_4213+38delinsCT (n.4213+37_4213+38delinsCT) c.2551+37_2551+38delinsCT (n.2551+37_2551+38delinsCT) | |
| X | g.108681929del | CA2450717278 | COL4A5 | c.4216+41del (n.4216+41del) c.4198+41del (n.4198+41del) n.710+41del n.619+41del c.12+41del c.4207+41del (n.4207+41del) c.3892+41del (n.3892+41del) c.1789+41del (n.1789+41del) c.4231+41del (n.4231+41del) c.4222+41del (n.4222+41del) c.4213+41del (n.4213+41del) c.2551+41del (n.2551+41del) | dbSNP |
| X | g.108681928T>C | CA10489313 | COL4A5 | c.4216+40T>C (n.4216+40T>C) c.4198+40T>C (n.4198+40T>C) n.710+40T>C n.619+40T>C c.12+40T>C c.4207+40T>C (n.4207+40T>C) c.3892+40T>C (n.3892+40T>C) c.1789+40T>C (n.1789+40T>C) c.4231+40T>C (n.4231+40T>C) c.4222+40T>C (n.4222+40T>C) c.4213+40T>C (n.4213+40T>C) c.2551+40T>C (n.2551+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681928T= | CA2450717279 | COL4A5 | c.4216+40T= (n.4216+40T=) c.4198+40T= (n.4198+40T=) n.710+40T= n.619+40T= c.12+40T= c.4207+40T= (n.4207+40T=) c.3892+40T= (n.3892+40T=) c.1789+40T= (n.1789+40T=) c.4231+40T= (n.4231+40T=) c.4222+40T= (n.4222+40T=) c.4213+40T= (n.4213+40T=) c.2551+40T= (n.2551+40T=) | |
| X | g.108681929T>C | CA869823142 | COL4A5 | c.4216+41T>C (n.4216+41T>C) c.4198+41T>C (n.4198+41T>C) n.710+41T>C n.619+41T>C c.12+41T>C c.4207+41T>C (n.4207+41T>C) c.3892+41T>C (n.3892+41T>C) c.1789+41T>C (n.1789+41T>C) c.4231+41T>C (n.4231+41T>C) c.4222+41T>C (n.4222+41T>C) c.4213+41T>C (n.4213+41T>C) c.2551+41T>C (n.2551+41T>C) | dbSNP |
| X | g.108681929T>G | CA2579677105 | COL4A5 | c.4216+41T>G (n.4216+41T>G) c.4198+41T>G (n.4198+41T>G) n.710+41T>G n.619+41T>G c.12+41T>G c.4207+41T>G (n.4207+41T>G) c.3892+41T>G (n.3892+41T>G) c.1789+41T>G (n.1789+41T>G) c.4231+41T>G (n.4231+41T>G) c.4222+41T>G (n.4222+41T>G) c.4213+41T>G (n.4213+41T>G) c.2551+41T>G (n.2551+41T>G) | |
| X | g.108681929T= | CA2450717280 | COL4A5 | c.4216+41T= (n.4216+41T=) c.4198+41T= (n.4198+41T=) n.710+41T= n.619+41T= c.12+41T= c.4207+41T= (n.4207+41T=) c.3892+41T= (n.3892+41T=) c.1789+41T= (n.1789+41T=) c.4231+41T= (n.4231+41T=) c.4222+41T= (n.4222+41T=) c.4213+41T= (n.4213+41T=) c.2551+41T= (n.2551+41T=) | |
| X | g.108681931A= | CA2450717281 | COL4A5 | c.4216+43A= (n.4216+43A=) c.4198+43A= (n.4198+43A=) n.710+43A= n.619+43A= c.12+43A= c.4207+43A= (n.4207+43A=) c.3892+43A= (n.3892+43A=) c.1789+43A= (n.1789+43A=) c.4231+43A= (n.4231+43A=) c.4222+43A= (n.4222+43A=) c.4213+43A= (n.4213+43A=) c.2551+43A= (n.2551+43A=) | |
| X | g.108681931A>G | CA10489314 | COL4A5 | c.4216+43A>G (n.4216+43A>G) c.4198+43A>G (n.4198+43A>G) n.710+43A>G n.619+43A>G c.12+43A>G c.4207+43A>G (n.4207+43A>G) c.3892+43A>G (n.3892+43A>G) c.1789+43A>G (n.1789+43A>G) c.4231+43A>G (n.4231+43A>G) c.4222+43A>G (n.4222+43A>G) c.4213+43A>G (n.4213+43A>G) c.2551+43A>G (n.2551+43A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108681932T>G | CA10489315 | COL4A5 | c.4216+44T>G (n.4216+44T>G) c.4198+44T>G (n.4198+44T>G) n.710+44T>G n.619+44T>G c.12+44T>G c.4207+44T>G (n.4207+44T>G) c.3892+44T>G (n.3892+44T>G) c.1789+44T>G (n.1789+44T>G) c.4231+44T>G (n.4231+44T>G) c.4222+44T>G (n.4222+44T>G) c.4213+44T>G (n.4213+44T>G) c.2551+44T>G (n.2551+44T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681932T= | CA2450717282 | COL4A5 | c.4216+44T= (n.4216+44T=) c.4198+44T= (n.4198+44T=) n.710+44T= n.619+44T= c.12+44T= c.4207+44T= (n.4207+44T=) c.3892+44T= (n.3892+44T=) c.1789+44T= (n.1789+44T=) c.4231+44T= (n.4231+44T=) c.4222+44T= (n.4222+44T=) c.4213+44T= (n.4213+44T=) c.2551+44T= (n.2551+44T=) | |
| X | g.108681935C>A | CA2694414452 | COL4A5 | c.4216+47C>A (n.4216+47C>A) c.4198+47C>A (n.4198+47C>A) n.710+47C>A n.619+47C>A c.12+47C>A c.4207+47C>A (n.4207+47C>A) c.3892+47C>A (n.3892+47C>A) c.1789+47C>A (n.1789+47C>A) c.4231+47C>A (n.4231+47C>A) c.4222+47C>A (n.4222+47C>A) c.4213+47C>A (n.4213+47C>A) c.2551+47C>A (n.2551+47C>A) | gnomAD v4 |
| X | g.108681936T>C | CA2694414453 | COL4A5 | c.4216+48T>C (n.4216+48T>C) c.4198+48T>C (n.4198+48T>C) n.710+48T>C n.619+48T>C c.12+48T>C c.4207+48T>C (n.4207+48T>C) c.3892+48T>C (n.3892+48T>C) c.1789+48T>C (n.1789+48T>C) c.4231+48T>C (n.4231+48T>C) c.4222+48T>C (n.4222+48T>C) c.4213+48T>C (n.4213+48T>C) c.2551+48T>C (n.2551+48T>C) | gnomAD v4 |
| X | g.108681937G>A | CA2694414456 | COL4A5 | c.4216+49G>A (n.4216+49G>A) c.4198+49G>A (n.4198+49G>A) n.710+49G>A n.619+49G>A c.12+49G>A c.4207+49G>A (n.4207+49G>A) c.3892+49G>A (n.3892+49G>A) c.1789+49G>A (n.1789+49G>A) c.4231+49G>A (n.4231+49G>A) c.4222+49G>A (n.4222+49G>A) c.4213+49G>A (n.4213+49G>A) c.2551+49G>A (n.2551+49G>A) | gnomAD v4 |
| X | g.108681937G>T | CA2694414455 | COL4A5 | c.4216+49G>T (n.4216+49G>T) c.4198+49G>T (n.4198+49G>T) n.710+49G>T n.619+49G>T c.12+49G>T c.4207+49G>T (n.4207+49G>T) c.3892+49G>T (n.3892+49G>T) c.1789+49G>T (n.1789+49G>T) c.4231+49G>T (n.4231+49G>T) c.4222+49G>T (n.4222+49G>T) c.4213+49G>T (n.4213+49G>T) c.2551+49G>T (n.2551+49G>T) | gnomAD v4 |
| X | g.108681938G>A | CA10489316 | COL4A5 | c.4216+50G>A (n.4216+50G>A) c.4198+50G>A (n.4198+50G>A) n.710+50G>A n.619+50G>A c.12+50G>A c.4207+50G>A (n.4207+50G>A) c.3892+50G>A (n.3892+50G>A) c.1789+50G>A (n.1789+50G>A) c.4231+50G>A (n.4231+50G>A) c.4222+50G>A (n.4222+50G>A) c.4213+50G>A (n.4213+50G>A) c.2551+50G>A (n.2551+50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681938G= | CA2450717283 | COL4A5 | c.4216+50G= (n.4216+50G=) c.4198+50G= (n.4198+50G=) n.710+50G= n.619+50G= c.12+50G= c.4207+50G= (n.4207+50G=) c.3892+50G= (n.3892+50G=) c.1789+50G= (n.1789+50G=) c.4231+50G= (n.4231+50G=) c.4222+50G= (n.4222+50G=) c.4213+50G= (n.4213+50G=) c.2551+50G= (n.2551+50G=) | |
| X | g.108681938G>T | CA2694414458 | COL4A5 | c.4216+50G>T (n.4216+50G>T) c.4198+50G>T (n.4198+50G>T) n.710+50G>T n.619+50G>T c.12+50G>T c.4207+50G>T (n.4207+50G>T) c.3892+50G>T (n.3892+50G>T) c.1789+50G>T (n.1789+50G>T) c.4231+50G>T (n.4231+50G>T) c.4222+50G>T (n.4222+50G>T) c.4213+50G>T (n.4213+50G>T) c.2551+50G>T (n.2551+50G>T) | gnomAD v4 |
| X | g.108681943C>A | CA2694414459 | COL4A5 | c.4216+55C>A (n.4216+55C>A) c.4198+55C>A (n.4198+55C>A) n.710+55C>A n.619+55C>A c.12+55C>A c.4207+55C>A (n.4207+55C>A) c.3892+55C>A (n.3892+55C>A) c.1789+55C>A (n.1789+55C>A) c.4231+55C>A (n.4231+55C>A) c.4222+55C>A (n.4222+55C>A) c.4213+55C>A (n.4213+55C>A) c.2551+55C>A (n.2551+55C>A) | gnomAD v4 |
| X | g.108681943C>T | CA2529170768 | COL4A5 | c.4216+55C>T (n.4216+55C>T) c.4198+55C>T (n.4198+55C>T) n.710+55C>T n.619+55C>T c.12+55C>T c.4207+55C>T (n.4207+55C>T) c.3892+55C>T (n.3892+55C>T) c.1789+55C>T (n.1789+55C>T) c.4231+55C>T (n.4231+55C>T) c.4222+55C>T (n.4222+55C>T) c.4213+55C>T (n.4213+55C>T) c.2551+55C>T (n.2551+55C>T) | gnomAD v4 |
| X | g.108681944A>G | CA2694414460 | COL4A5 | c.4216+56A>G (n.4216+56A>G) c.4198+56A>G (n.4198+56A>G) n.710+56A>G n.619+56A>G c.12+56A>G c.4207+56A>G (n.4207+56A>G) c.3892+56A>G (n.3892+56A>G) c.1789+56A>G (n.1789+56A>G) c.4231+56A>G (n.4231+56A>G) c.4222+56A>G (n.4222+56A>G) c.4213+56A>G (n.4213+56A>G) c.2551+56A>G (n.2551+56A>G) | gnomAD v4 |
| X | g.108681945T>C | CA2579677106 | COL4A5 | c.4216+57T>C (n.4216+57T>C) c.4198+57T>C (n.4198+57T>C) n.710+57T>C n.619+57T>C c.12+57T>C c.4207+57T>C (n.4207+57T>C) c.3892+57T>C (n.3892+57T>C) c.1789+57T>C (n.1789+57T>C) c.4231+57T>C (n.4231+57T>C) c.4222+57T>C (n.4222+57T>C) c.4213+57T>C (n.4213+57T>C) c.2551+57T>C (n.2551+57T>C) | gnomAD v4 |
| X | g.108681946G>T | CA2694414461 | COL4A5 | c.4216+58G>T (n.4216+58G>T) c.4198+58G>T (n.4198+58G>T) n.710+58G>T n.619+58G>T c.12+58G>T c.4207+58G>T (n.4207+58G>T) c.3892+58G>T (n.3892+58G>T) c.1789+58G>T (n.1789+58G>T) c.4231+58G>T (n.4231+58G>T) c.4222+58G>T (n.4222+58G>T) c.4213+58G>T (n.4213+58G>T) c.2551+58G>T (n.2551+58G>T) | gnomAD v4 |