| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23876258T>C | CA8915851 | LAMA3 | c.172-36T>C (n.172-36T>C) c.4999-36T>C (n.4999-36T>C) c.1891-36T>C (n.1891-36T>C) c.5026-36T>C (n.5026-36T>C) c.5017-36T>C (n.5017-36T>C) c.5008-36T>C (n.5008-36T>C) c.4894-36T>C (n.4894-36T>C) c.2878-36T>C (n.2878-36T>C) c.568-36T>C (n.568-36T>C) n.5267-36T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876258T= | CA2290312303 | LAMA3 | c.172-36T= (n.172-36T=) c.4999-36T= (n.4999-36T=) c.1891-36T= (n.1891-36T=) c.5026-36T= (n.5026-36T=) c.5017-36T= (n.5017-36T=) c.5008-36T= (n.5008-36T=) c.4894-36T= (n.4894-36T=) c.2878-36T= (n.2878-36T=) c.568-36T= (n.568-36T=) n.5267-36T= | |
| 18 | g.23876259C>A | CA2641292540 | LAMA3 | c.172-35C>A (n.172-35C>A) c.4999-35C>A (n.4999-35C>A) c.1891-35C>A (n.1891-35C>A) c.5026-35C>A (n.5026-35C>A) c.5017-35C>A (n.5017-35C>A) c.5008-35C>A (n.5008-35C>A) c.4894-35C>A (n.4894-35C>A) c.2878-35C>A (n.2878-35C>A) c.568-35C>A (n.568-35C>A) n.5267-35C>A | gnomAD v4 |
| 18 | g.23876259C= | CA2290312304 | LAMA3 | c.172-35C= (n.172-35C=) c.4999-35C= (n.4999-35C=) c.1891-35C= (n.1891-35C=) c.5026-35C= (n.5026-35C=) c.5017-35C= (n.5017-35C=) c.5008-35C= (n.5008-35C=) c.4894-35C= (n.4894-35C=) c.2878-35C= (n.2878-35C=) c.568-35C= (n.568-35C=) n.5267-35C= | |
| 18 | g.23876259C>G | CA8915852 | LAMA3 | c.172-35C>G (n.172-35C>G) c.4999-35C>G (n.4999-35C>G) c.1891-35C>G (n.1891-35C>G) c.5026-35C>G (n.5026-35C>G) c.5017-35C>G (n.5017-35C>G) c.5008-35C>G (n.5008-35C>G) c.4894-35C>G (n.4894-35C>G) c.2878-35C>G (n.2878-35C>G) c.568-35C>G (n.568-35C>G) n.5267-35C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876262del | CA2811822684 | LAMA3 | c.172-32del (n.172-32del) c.4999-32del (n.4999-32del) c.1891-32del (n.1891-32del) c.5026-32del (n.5026-32del) c.5017-32del (n.5017-32del) c.5008-32del (n.5008-32del) c.4894-32del (n.4894-32del) c.2878-32del (n.2878-32del) c.568-32del (n.568-32del) n.5267-32del | |
| 18 | g.23876261T>C | CA2641292541 | LAMA3 | c.172-33T>C (n.172-33T>C) c.4999-33T>C (n.4999-33T>C) c.1891-33T>C (n.1891-33T>C) c.5026-33T>C (n.5026-33T>C) c.5017-33T>C (n.5017-33T>C) c.5008-33T>C (n.5008-33T>C) c.4894-33T>C (n.4894-33T>C) c.2878-33T>C (n.2878-33T>C) c.568-33T>C (n.568-33T>C) n.5267-33T>C | gnomAD v4 |
| 18 | g.23876262T>C | CA2576472622 | LAMA3 | c.172-32T>C (n.172-32T>C) c.4999-32T>C (n.4999-32T>C) c.1891-32T>C (n.1891-32T>C) c.5026-32T>C (n.5026-32T>C) c.5017-32T>C (n.5017-32T>C) c.5008-32T>C (n.5008-32T>C) c.4894-32T>C (n.4894-32T>C) c.2878-32T>C (n.2878-32T>C) c.568-32T>C (n.568-32T>C) n.5267-32T>C | gnomAD v4 |
| 18 | g.23876264T>C | CA2641292542 | LAMA3 | c.172-30T>C (n.172-30T>C) c.4999-30T>C (n.4999-30T>C) c.1891-30T>C (n.1891-30T>C) c.5026-30T>C (n.5026-30T>C) c.5017-30T>C (n.5017-30T>C) c.5008-30T>C (n.5008-30T>C) c.4894-30T>C (n.4894-30T>C) c.2878-30T>C (n.2878-30T>C) c.568-30T>C (n.568-30T>C) n.5267-30T>C | gnomAD v4 |
| 18 | g.23876265A= | CA2290312305 | LAMA3 | c.172-29A= (n.172-29A=) c.4999-29A= (n.4999-29A=) c.1891-29A= (n.1891-29A=) c.5026-29A= (n.5026-29A=) c.5017-29A= (n.5017-29A=) c.5008-29A= (n.5008-29A=) c.4894-29A= (n.4894-29A=) c.2878-29A= (n.2878-29A=) c.568-29A= (n.568-29A=) n.5267-29A= | |
| 18 | g.23876265A>G | CA8915854 | LAMA3 | c.172-29A>G (n.172-29A>G) c.4999-29A>G (n.4999-29A>G) c.1891-29A>G (n.1891-29A>G) c.5026-29A>G (n.5026-29A>G) c.5017-29A>G (n.5017-29A>G) c.5008-29A>G (n.5008-29A>G) c.4894-29A>G (n.4894-29A>G) c.2878-29A>G (n.2878-29A>G) c.568-29A>G (n.568-29A>G) n.5267-29A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876265A>T | CA8915853 | LAMA3 | c.172-29A>T (n.172-29A>T) c.4999-29A>T (n.4999-29A>T) c.1891-29A>T (n.1891-29A>T) c.5026-29A>T (n.5026-29A>T) c.5017-29A>T (n.5017-29A>T) c.5008-29A>T (n.5008-29A>T) c.4894-29A>T (n.4894-29A>T) c.2878-29A>T (n.2878-29A>T) c.568-29A>T (n.568-29A>T) n.5267-29A>T | dbSNP ExAC |
| 18 | g.23876266T>C | CA8915855 | LAMA3 | c.172-28T>C (n.172-28T>C) c.4999-28T>C (n.4999-28T>C) c.1891-28T>C (n.1891-28T>C) c.5026-28T>C (n.5026-28T>C) c.5017-28T>C (n.5017-28T>C) c.5008-28T>C (n.5008-28T>C) c.4894-28T>C (n.4894-28T>C) c.2878-28T>C (n.2878-28T>C) c.568-28T>C (n.568-28T>C) n.5267-28T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876266T= | CA2290312306 | LAMA3 | c.172-28T= (n.172-28T=) c.4999-28T= (n.4999-28T=) c.1891-28T= (n.1891-28T=) c.5026-28T= (n.5026-28T=) c.5017-28T= (n.5017-28T=) c.5008-28T= (n.5008-28T=) c.4894-28T= (n.4894-28T=) c.2878-28T= (n.2878-28T=) c.568-28T= (n.568-28T=) n.5267-28T= | |
| 18 | g.23876267T>C | CA8915856 | LAMA3 | c.172-27T>C (n.172-27T>C) c.4999-27T>C (n.4999-27T>C) c.1891-27T>C (n.1891-27T>C) c.5026-27T>C (n.5026-27T>C) c.5017-27T>C (n.5017-27T>C) c.5008-27T>C (n.5008-27T>C) c.4894-27T>C (n.4894-27T>C) c.2878-27T>C (n.2878-27T>C) c.568-27T>C (n.568-27T>C) n.5267-27T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876267T= | CA2290312307 | LAMA3 | c.172-27T= (n.172-27T=) c.4999-27T= (n.4999-27T=) c.1891-27T= (n.1891-27T=) c.5026-27T= (n.5026-27T=) c.5017-27T= (n.5017-27T=) c.5008-27T= (n.5008-27T=) c.4894-27T= (n.4894-27T=) c.2878-27T= (n.2878-27T=) c.568-27T= (n.568-27T=) n.5267-27T= | |
| 18 | g.23876268G>T | CA2641292551 | LAMA3 | c.172-26G>T (n.172-26G>T) c.4999-26G>T (n.4999-26G>T) c.1891-26G>T (n.1891-26G>T) c.5026-26G>T (n.5026-26G>T) c.5017-26G>T (n.5017-26G>T) c.5008-26G>T (n.5008-26G>T) c.4894-26G>T (n.4894-26G>T) c.2878-26G>T (n.2878-26G>T) c.568-26G>T (n.568-26G>T) n.5267-26G>T | gnomAD v4 |
| 18 | g.23876269A= | CA2290312308 | LAMA3 | c.172-25A= (n.172-25A=) c.4999-25A= (n.4999-25A=) c.1891-25A= (n.1891-25A=) c.5026-25A= (n.5026-25A=) c.5017-25A= (n.5017-25A=) c.5008-25A= (n.5008-25A=) c.4894-25A= (n.4894-25A=) c.2878-25A= (n.2878-25A=) c.568-25A= (n.568-25A=) n.5267-25A= | |
| 18 | g.23876269A>G | CA628681671 | LAMA3 | c.172-25A>G (n.172-25A>G) c.4999-25A>G (n.4999-25A>G) c.1891-25A>G (n.1891-25A>G) c.5026-25A>G (n.5026-25A>G) c.5017-25A>G (n.5017-25A>G) c.5008-25A>G (n.5008-25A>G) c.4894-25A>G (n.4894-25A>G) c.2878-25A>G (n.2878-25A>G) c.568-25A>G (n.568-25A>G) n.5267-25A>G | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23876269A>T | CA8915857 | LAMA3 | c.172-25A>T (n.172-25A>T) c.4999-25A>T (n.4999-25A>T) c.1891-25A>T (n.1891-25A>T) c.5026-25A>T (n.5026-25A>T) c.5017-25A>T (n.5017-25A>T) c.5008-25A>T (n.5008-25A>T) c.4894-25A>T (n.4894-25A>T) c.2878-25A>T (n.2878-25A>T) c.568-25A>T (n.568-25A>T) n.5267-25A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876271T>G | CA2641292557 | LAMA3 | c.172-23T>G (n.172-23T>G) c.4999-23T>G (n.4999-23T>G) c.1891-23T>G (n.1891-23T>G) c.5026-23T>G (n.5026-23T>G) c.5017-23T>G (n.5017-23T>G) c.5008-23T>G (n.5008-23T>G) c.4894-23T>G (n.4894-23T>G) c.2878-23T>G (n.2878-23T>G) c.568-23T>G (n.568-23T>G) n.5267-23T>G | gnomAD v4 |
| 18 | g.23876271_23876272delinsTA | CA2290312309 | LAMA3 | c.172-23_172-22delinsTA (n.172-23_172-22delinsTA) c.4999-23_4999-22delinsTA (n.4999-23_4999-22delinsTA) c.1891-23_1891-22delinsTA (n.1891-23_1891-22delinsTA) c.5026-23_5026-22delinsTA (n.5026-23_5026-22delinsTA) c.5017-23_5017-22delinsTA (n.5017-23_5017-22delinsTA) c.5008-23_5008-22delinsTA (n.5008-23_5008-22delinsTA) c.4894-23_4894-22delinsTA (n.4894-23_4894-22delinsTA) c.2878-23_2878-22delinsTA (n.2878-23_2878-22delinsTA) c.568-23_568-22delinsTA (n.568-23_568-22delinsTA) n.5267-23_5267-22delinsTA | |
| 18 | g.23876272A>C | CA2641292567 | LAMA3 | c.172-22A>C (n.172-22A>C) c.4999-22A>C (n.4999-22A>C) c.1891-22A>C (n.1891-22A>C) c.5026-22A>C (n.5026-22A>C) c.5017-22A>C (n.5017-22A>C) c.5008-22A>C (n.5008-22A>C) c.4894-22A>C (n.4894-22A>C) c.2878-22A>C (n.2878-22A>C) c.568-22A>C (n.568-22A>C) n.5267-22A>C | gnomAD v4 |
| 18 | g.23876272A>G | CA2734660826 | LAMA3 | c.172-22A>G (n.172-22A>G) c.4999-22A>G (n.4999-22A>G) c.1891-22A>G (n.1891-22A>G) c.5026-22A>G (n.5026-22A>G) c.5017-22A>G (n.5017-22A>G) c.5008-22A>G (n.5008-22A>G) c.4894-22A>G (n.4894-22A>G) c.2878-22A>G (n.2878-22A>G) c.568-22A>G (n.568-22A>G) n.5267-22A>G | dbSNP |
| 18 | g.23876272A>T | CA2576472623 | LAMA3 | c.172-22A>T (n.172-22A>T) c.4999-22A>T (n.4999-22A>T) c.1891-22A>T (n.1891-22A>T) c.5026-22A>T (n.5026-22A>T) c.5017-22A>T (n.5017-22A>T) c.5008-22A>T (n.5008-22A>T) c.4894-22A>T (n.4894-22A>T) c.2878-22A>T (n.2878-22A>T) c.568-22A>T (n.568-22A>T) n.5267-22A>T | gnomAD v4 |
| 18 | g.23876274del | CA8915858 | LAMA3 | c.172-20del (n.172-20del) c.4999-20del (n.4999-20del) c.1891-20del (n.1891-20del) c.5026-20del (n.5026-20del) c.5017-20del (n.5017-20del) c.5008-20del (n.5008-20del) c.4894-20del (n.4894-20del) c.2878-20del (n.2878-20del) c.568-20del (n.568-20del) n.5267-20del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876276_23876277del | CA2641292569 | LAMA3 | c.172-18_172-17del (n.172-18_172-17del) c.4999-18_4999-17del (n.4999-18_4999-17del) c.1891-18_1891-17del (n.1891-18_1891-17del) c.5026-18_5026-17del (n.5026-18_5026-17del) c.5017-18_5017-17del (n.5017-18_5017-17del) c.5008-18_5008-17del (n.5008-18_5008-17del) c.4894-18_4894-17del (n.4894-18_4894-17del) c.2878-18_2878-17del (n.2878-18_2878-17del) c.568-18_568-17del (n.568-18_568-17del) n.5267-18_5267-17del | gnomAD v4 |
| 18 | g.23876275C>A | CA2576472624 | LAMA3 | c.172-19C>A (n.172-19C>A) c.4999-19C>A (n.4999-19C>A) c.1891-19C>A (n.1891-19C>A) c.5026-19C>A (n.5026-19C>A) c.5017-19C>A (n.5017-19C>A) c.5008-19C>A (n.5008-19C>A) c.4894-19C>A (n.4894-19C>A) c.2878-19C>A (n.2878-19C>A) c.568-19C>A (n.568-19C>A) n.5267-19C>A | gnomAD v4 |
| 18 | g.23876276A= | CA2290312310 | LAMA3 | c.172-18A= (n.172-18A=) c.4999-18A= (n.4999-18A=) c.1891-18A= (n.1891-18A=) c.5026-18A= (n.5026-18A=) c.5017-18A= (n.5017-18A=) c.5008-18A= (n.5008-18A=) c.4894-18A= (n.4894-18A=) c.2878-18A= (n.2878-18A=) c.568-18A= (n.568-18A=) n.5267-18A= | |
| 18 | g.23876276A>C | CA297091424 | LAMA3 | c.172-18A>C (n.172-18A>C) c.4999-18A>C (n.4999-18A>C) c.1891-18A>C (n.1891-18A>C) c.5026-18A>C (n.5026-18A>C) c.5017-18A>C (n.5017-18A>C) c.5008-18A>C (n.5008-18A>C) c.4894-18A>C (n.4894-18A>C) c.2878-18A>C (n.2878-18A>C) c.568-18A>C (n.568-18A>C) n.5267-18A>C | ClinVar dbSNP |
| 18 | g.23876276A>T | CA2576472625 | LAMA3 | c.172-18A>T (n.172-18A>T) c.4999-18A>T (n.4999-18A>T) c.1891-18A>T (n.1891-18A>T) c.5026-18A>T (n.5026-18A>T) c.5017-18A>T (n.5017-18A>T) c.5008-18A>T (n.5008-18A>T) c.4894-18A>T (n.4894-18A>T) c.2878-18A>T (n.2878-18A>T) c.568-18A>T (n.568-18A>T) n.5267-18A>T | |
| 18 | g.23876277C>A | CA2576472626 | LAMA3 | c.172-17C>A (n.172-17C>A) c.4999-17C>A (n.4999-17C>A) c.1891-17C>A (n.1891-17C>A) c.5026-17C>A (n.5026-17C>A) c.5017-17C>A (n.5017-17C>A) c.5008-17C>A (n.5008-17C>A) c.4894-17C>A (n.4894-17C>A) c.2878-17C>A (n.2878-17C>A) c.568-17C>A (n.568-17C>A) n.5267-17C>A | gnomAD v4 |
| 18 | g.23876277C= | CA2290312312 | LAMA3 | c.172-17C= (n.172-17C=) c.4999-17C= (n.4999-17C=) c.1891-17C= (n.1891-17C=) c.5026-17C= (n.5026-17C=) c.5017-17C= (n.5017-17C=) c.5008-17C= (n.5008-17C=) c.4894-17C= (n.4894-17C=) c.2878-17C= (n.2878-17C=) c.568-17C= (n.568-17C=) n.5267-17C= | |
| 18 | g.23876277C>T | CA2290312313 | LAMA3 | c.172-17C>T (n.172-17C>T) c.4999-17C>T (n.4999-17C>T) c.1891-17C>T (n.1891-17C>T) c.5026-17C>T (n.5026-17C>T) c.5017-17C>T (n.5017-17C>T) c.5008-17C>T (n.5008-17C>T) c.4894-17C>T (n.4894-17C>T) c.2878-17C>T (n.2878-17C>T) c.568-17C>T (n.568-17C>T) n.5267-17C>T | dbSNP |
| 18 | g.23876277_23876281delinsCTTTG | CA2290312311 | LAMA3 | c.172-17_172-13delinsCTTTG (n.172-17_172-13delinsCTTTG) c.4999-17_4999-13delinsCTTTG (n.4999-17_4999-13delinsCTTTG) c.1891-17_1891-13delinsCTTTG (n.1891-17_1891-13delinsCTTTG) c.5026-17_5026-13delinsCTTTG (n.5026-17_5026-13delinsCTTTG) c.5017-17_5017-13delinsCTTTG (n.5017-17_5017-13delinsCTTTG) c.5008-17_5008-13delinsCTTTG (n.5008-17_5008-13delinsCTTTG) c.4894-17_4894-13delinsCTTTG (n.4894-17_4894-13delinsCTTTG) c.2878-17_2878-13delinsCTTTG (n.2878-17_2878-13delinsCTTTG) c.568-17_568-13delinsCTTTG (n.568-17_568-13delinsCTTTG) n.5267-17_5267-13delinsCTTTG | |
| 18 | g.23876278T>A | CA2576472627 | LAMA3 | c.172-16T>A (n.172-16T>A) c.4999-16T>A (n.4999-16T>A) c.1891-16T>A (n.1891-16T>A) c.5026-16T>A (n.5026-16T>A) c.5017-16T>A (n.5017-16T>A) c.5008-16T>A (n.5008-16T>A) c.4894-16T>A (n.4894-16T>A) c.2878-16T>A (n.2878-16T>A) c.568-16T>A (n.568-16T>A) n.5267-16T>A | |
| 18 | g.23876282_23876285del | CA777750276 | LAMA3 | c.172-12_172-9del (n.172-12_172-9del) c.4999-12_4999-9del (n.4999-12_4999-9del) c.1891-12_1891-9del (n.1891-12_1891-9del) c.5026-12_5026-9del (n.5026-12_5026-9del) c.5017-12_5017-9del (n.5017-12_5017-9del) c.5008-12_5008-9del (n.5008-12_5008-9del) c.4894-12_4894-9del (n.4894-12_4894-9del) c.2878-12_2878-9del (n.2878-12_2878-9del) c.568-12_568-9del (n.568-12_568-9del) n.5267-12_5267-9del | dbSNP |
| 18 | g.23876279T>A | CA2576472628 | LAMA3 | c.172-15T>A (n.172-15T>A) c.4999-15T>A (n.4999-15T>A) c.1891-15T>A (n.1891-15T>A) c.5026-15T>A (n.5026-15T>A) c.5017-15T>A (n.5017-15T>A) c.5008-15T>A (n.5008-15T>A) c.4894-15T>A (n.4894-15T>A) c.2878-15T>A (n.2878-15T>A) c.568-15T>A (n.568-15T>A) n.5267-15T>A | ClinVar |
| 18 | g.23876280T>C | CA2641292578 | LAMA3 | c.172-14T>C (n.172-14T>C) c.4999-14T>C (n.4999-14T>C) c.1891-14T>C (n.1891-14T>C) c.5026-14T>C (n.5026-14T>C) c.5017-14T>C (n.5017-14T>C) c.5008-14T>C (n.5008-14T>C) c.4894-14T>C (n.4894-14T>C) c.2878-14T>C (n.2878-14T>C) c.568-14T>C (n.568-14T>C) n.5267-14T>C | gnomAD v4 |
| 18 | g.23876285G>A | CA8915859 | LAMA3 | c.172-9G>A (n.172-9G>A) c.4999-9G>A (n.4999-9G>A) c.1891-9G>A (n.1891-9G>A) c.5026-9G>A (n.5026-9G>A) c.5017-9G>A (n.5017-9G>A) c.5008-9G>A (n.5008-9G>A) c.4894-9G>A (n.4894-9G>A) c.2878-9G>A (n.2878-9G>A) c.568-9G>A (n.568-9G>A) n.5267-9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876285G= | CA2290312314 | LAMA3 | c.172-9G= (n.172-9G=) c.4999-9G= (n.4999-9G=) c.1891-9G= (n.1891-9G=) c.5026-9G= (n.5026-9G=) c.5017-9G= (n.5017-9G=) c.5008-9G= (n.5008-9G=) c.4894-9G= (n.4894-9G=) c.2878-9G= (n.2878-9G=) c.568-9G= (n.568-9G=) n.5267-9G= | |
| 18 | g.23876285G>T | CA2641292592 | LAMA3 | c.172-9G>T (n.172-9G>T) c.4999-9G>T (n.4999-9G>T) c.1891-9G>T (n.1891-9G>T) c.5026-9G>T (n.5026-9G>T) c.5017-9G>T (n.5017-9G>T) c.5008-9G>T (n.5008-9G>T) c.4894-9G>T (n.4894-9G>T) c.2878-9G>T (n.2878-9G>T) c.568-9G>T (n.568-9G>T) n.5267-9G>T | gnomAD v4 |
| 18 | g.23876285_23876286delinsGA | CA2290312315 | LAMA3 | c.172-9_172-8delinsGA (n.172-9_172-8delinsGA) c.4999-9_4999-8delinsGA (n.4999-9_4999-8delinsGA) c.1891-9_1891-8delinsGA (n.1891-9_1891-8delinsGA) c.5026-9_5026-8delinsGA (n.5026-9_5026-8delinsGA) c.5017-9_5017-8delinsGA (n.5017-9_5017-8delinsGA) c.5008-9_5008-8delinsGA (n.5008-9_5008-8delinsGA) c.4894-9_4894-8delinsGA (n.4894-9_4894-8delinsGA) c.2878-9_2878-8delinsGA (n.2878-9_2878-8delinsGA) c.568-9_568-8delinsGA (n.568-9_568-8delinsGA) n.5267-9_5267-8delinsGA | |
| 18 | g.23876286A>G | CA2697555346 | LAMA3 | c.172-8A>G (n.172-8A>G) c.4999-8A>G (n.4999-8A>G) c.1891-8A>G (n.1891-8A>G) c.5026-8A>G (n.5026-8A>G) c.5017-8A>G (n.5017-8A>G) c.5008-8A>G (n.5008-8A>G) c.4894-8A>G (n.4894-8A>G) c.2878-8A>G (n.2878-8A>G) c.568-8A>G (n.568-8A>G) n.5267-8A>G | ClinVar |
| 18 | g.23876286A>T | CA2641292599 | LAMA3 | c.172-8A>T (n.172-8A>T) c.4999-8A>T (n.4999-8A>T) c.1891-8A>T (n.1891-8A>T) c.5026-8A>T (n.5026-8A>T) c.5017-8A>T (n.5017-8A>T) c.5008-8A>T (n.5008-8A>T) c.4894-8A>T (n.4894-8A>T) c.2878-8A>T (n.2878-8A>T) c.568-8A>T (n.568-8A>T) n.5267-8A>T | gnomAD v4 |
| 18 | g.23876290del | CA988419491 | LAMA3 | c.172-4del (n.172-4del) c.4999-4del (n.4999-4del) c.1891-4del (n.1891-4del) c.5026-4del (n.5026-4del) c.5017-4del (n.5017-4del) c.5008-4del (n.5008-4del) c.4894-4del (n.4894-4del) c.2878-4del (n.2878-4del) c.568-4del (n.568-4del) n.5267-4del | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876287A>C | CA2641292600 | LAMA3 | c.172-7A>C (n.172-7A>C) c.4999-7A>C (n.4999-7A>C) c.1891-7A>C (n.1891-7A>C) c.5026-7A>C (n.5026-7A>C) c.5017-7A>C (n.5017-7A>C) c.5008-7A>C (n.5008-7A>C) c.4894-7A>C (n.4894-7A>C) c.2878-7A>C (n.2878-7A>C) c.568-7A>C (n.568-7A>C) n.5267-7A>C | gnomAD v4 |
| 18 | g.23876289A= | CA2290312316 | LAMA3 | c.172-5A= (n.172-5A=) c.4999-5A= (n.4999-5A=) c.1891-5A= (n.1891-5A=) c.5026-5A= (n.5026-5A=) c.5017-5A= (n.5017-5A=) c.5008-5A= (n.5008-5A=) c.4894-5A= (n.4894-5A=) c.2878-5A= (n.2878-5A=) c.568-5A= (n.568-5A=) n.5267-5A= | |
| 18 | g.23876289A>C | CA777750280 | LAMA3 | c.172-5A>C (n.172-5A>C) c.4999-5A>C (n.4999-5A>C) c.1891-5A>C (n.1891-5A>C) c.5026-5A>C (n.5026-5A>C) c.5017-5A>C (n.5017-5A>C) c.5008-5A>C (n.5008-5A>C) c.4894-5A>C (n.4894-5A>C) c.2878-5A>C (n.2878-5A>C) c.568-5A>C (n.568-5A>C) n.5267-5A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876289A>G | CA2641292609 | LAMA3 | c.172-5A>G (n.172-5A>G) c.4999-5A>G (n.4999-5A>G) c.1891-5A>G (n.1891-5A>G) c.5026-5A>G (n.5026-5A>G) c.5017-5A>G (n.5017-5A>G) c.5008-5A>G (n.5008-5A>G) c.4894-5A>G (n.4894-5A>G) c.2878-5A>G (n.2878-5A>G) c.568-5A>G (n.568-5A>G) n.5267-5A>G | gnomAD v4 |
| 18 | g.23876289A>T | CA2573155131 | LAMA3 | c.172-5A>T (n.172-5A>T) c.4999-5A>T (n.4999-5A>T) c.1891-5A>T (n.1891-5A>T) c.5026-5A>T (n.5026-5A>T) c.5017-5A>T (n.5017-5A>T) c.5008-5A>T (n.5008-5A>T) c.4894-5A>T (n.4894-5A>T) c.2878-5A>T (n.2878-5A>T) c.568-5A>T (n.568-5A>T) n.5267-5A>T | ClinVar dbSNP |
| 18 | g.23876292A= | CA2290312317 | LAMA3 | c.172-2A= (n.172-2A=) c.4999-2A= (n.4999-2A=) c.1891-2A= (n.1891-2A=) c.5026-2A= (n.5026-2A=) c.5017-2A= (n.5017-2A=) c.5008-2A= (n.5008-2A=) c.4894-2A= (n.4894-2A=) c.2878-2A= (n.2878-2A=) c.568-2A= (n.568-2A=) n.5267-2A= | |
| 18 | g.23876292A>C | CA8915860 | LAMA3 | c.172-2A>C (n.172-2A>C) c.4999-2A>C (n.4999-2A>C) c.1891-2A>C (n.1891-2A>C) c.5026-2A>C (n.5026-2A>C) c.5017-2A>C (n.5017-2A>C) c.5008-2A>C (n.5008-2A>C) c.4894-2A>C (n.4894-2A>C) c.2878-2A>C (n.2878-2A>C) c.568-2A>C (n.568-2A>C) n.5267-2A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876292A>G | CA402044844 | LAMA3 | c.172-2A>G (n.172-2A>G) c.4999-2A>G (n.4999-2A>G) c.1891-2A>G (n.1891-2A>G) c.5026-2A>G (n.5026-2A>G) c.5017-2A>G (n.5017-2A>G) c.5008-2A>G (n.5008-2A>G) c.4894-2A>G (n.4894-2A>G) c.2878-2A>G (n.2878-2A>G) c.568-2A>G (n.568-2A>G) n.5267-2A>G | |
| 18 | g.23876292A>T | CA402044845 | LAMA3 | c.172-2A>T (n.172-2A>T) c.4999-2A>T (n.4999-2A>T) c.1891-2A>T (n.1891-2A>T) c.5026-2A>T (n.5026-2A>T) c.5017-2A>T (n.5017-2A>T) c.5008-2A>T (n.5008-2A>T) c.4894-2A>T (n.4894-2A>T) c.2878-2A>T (n.2878-2A>T) c.568-2A>T (n.568-2A>T) n.5267-2A>T | |
| 18 | g.23876293G>A | CA402044846 | LAMA3 | c.172-1G>A (n.172-1G>A) c.4999-1G>A (n.4999-1G>A) c.1891-1G>A (n.1891-1G>A) c.5026-1G>A (n.5026-1G>A) c.5017-1G>A (n.5017-1G>A) c.5008-1G>A (n.5008-1G>A) c.4894-1G>A (n.4894-1G>A) c.2878-1G>A (n.2878-1G>A) c.568-1G>A (n.568-1G>A) n.5267-1G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876293G>C | CA402044847 | LAMA3 | c.172-1G>C (n.172-1G>C) c.4999-1G>C (n.4999-1G>C) c.1891-1G>C (n.1891-1G>C) c.5026-1G>C (n.5026-1G>C) c.5017-1G>C (n.5017-1G>C) c.5008-1G>C (n.5008-1G>C) c.4894-1G>C (n.4894-1G>C) c.2878-1G>C (n.2878-1G>C) c.568-1G>C (n.568-1G>C) n.5267-1G>C | |
| 18 | g.23876293G= | CA2290312318 | LAMA3 | c.172-1G= (n.172-1G=) c.4999-1G= (n.4999-1G=) c.1891-1G= (n.1891-1G=) c.5026-1G= (n.5026-1G=) c.5017-1G= (n.5017-1G=) c.5008-1G= (n.5008-1G=) c.4894-1G= (n.4894-1G=) c.2878-1G= (n.2878-1G=) c.568-1G= (n.568-1G=) n.5267-1G= | |
| 18 | g.23876293G>T | CA402044848 | LAMA3 | c.172-1G>T (n.172-1G>T) c.4999-1G>T (n.4999-1G>T) c.1891-1G>T (n.1891-1G>T) c.5026-1G>T (n.5026-1G>T) c.5017-1G>T (n.5017-1G>T) c.5008-1G>T (n.5008-1G>T) c.4894-1G>T (n.4894-1G>T) c.2878-1G>T (n.2878-1G>T) c.568-1G>T (n.568-1G>T) n.5267-1G>T | gnomAD v4 |
| 18 | g.23876294G>A | CA402044849 | LAMA3 | c.172G>A (p.Gly58Ser) c.4999G>A (p.Gly1667Ser) c.1891G>A (p.Gly631Ser) c.5026G>A (p.Gly1676Ser) c.5017G>A (p.Gly1673Ser) c.5008G>A (p.Gly1670Ser) c.4894G>A (p.Gly1632Ser) c.2878G>A (p.Gly960Ser) c.568G>A (p.Gly190Ser) n.5267G>A | dbSNP gnomAD v4 |
| 18 | g.23876294G>C | CA297091425 | LAMA3 | c.172G>C (p.Gly58Arg) c.4999G>C (p.Gly1667Arg) c.1891G>C (p.Gly631Arg) c.5026G>C (p.Gly1676Arg) c.5017G>C (p.Gly1673Arg) c.5008G>C (p.Gly1670Arg) c.4894G>C (p.Gly1632Arg) c.2878G>C (p.Gly960Arg) c.568G>C (p.Gly190Arg) n.5267G>C | dbSNP |
| 18 | g.23876294G= | CA2290312319 | LAMA3 | c.172G= (p.Gly58=) c.4999G= (p.Gly1667=) c.1891G= (p.Gly631=) c.5026G= (p.Gly1676=) c.5017G= (p.Gly1673=) c.5008G= (p.Gly1670=) c.4894G= (p.Gly1632=) c.2878G= (p.Gly960=) c.568G= (p.Gly190=) n.5267G= | |
| 18 | g.23876294G>T | CA402044850 | LAMA3 | c.172G>T (p.Gly58Cys) c.4999G>T (p.Gly1667Cys) c.1891G>T (p.Gly631Cys) c.5026G>T (p.Gly1676Cys) c.5017G>T (p.Gly1673Cys) c.5008G>T (p.Gly1670Cys) c.4894G>T (p.Gly1632Cys) c.2878G>T (p.Gly960Cys) c.568G>T (p.Gly190Cys) n.5267G>T | gnomAD v4 |
| 18 | g.23876295_23876298del | CA2573054632 | LAMA3 | c.173_176del (p.Gly58ValfsTer?) c.5000_5003del (p.Gly1667ValfsTer?) c.1892_1895del (p.Gly631ValfsTer?) c.5027_5030del (p.Gly1676ValfsTer?) c.5018_5021del (p.Gly1673ValfsTer?) c.5009_5012del (p.Gly1670ValfsTer?) c.4895_4898del (p.Gly1632ValfsTer?) c.2879_2882del (p.Gly960ValfsTer?) c.569_572del (p.Gly190ValfsTer?) n.5268_5271del | ClinVar dbSNP |
| 18 | g.23876295G>A | CA402044851 | LAMA3 | c.173G>A (p.Gly58Asp) c.5000G>A (p.Gly1667Asp) c.1892G>A (p.Gly631Asp) c.5027G>A (p.Gly1676Asp) c.5018G>A (p.Gly1673Asp) c.5009G>A (p.Gly1670Asp) c.4895G>A (p.Gly1632Asp) c.2879G>A (p.Gly960Asp) c.569G>A (p.Gly190Asp) n.5268G>A | gnomAD v4 |
| 18 | g.23876295G>C | CA402044852 | LAMA3 | c.173G>C (p.Gly58Ala) c.5000G>C (p.Gly1667Ala) c.1892G>C (p.Gly631Ala) c.5027G>C (p.Gly1676Ala) c.5018G>C (p.Gly1673Ala) c.5009G>C (p.Gly1670Ala) c.4895G>C (p.Gly1632Ala) c.2879G>C (p.Gly960Ala) c.569G>C (p.Gly190Ala) n.5268G>C | |
| 18 | g.23876295G>T | CA402044853 | LAMA3 | c.173G>T (p.Gly58Val) c.5000G>T (p.Gly1667Val) c.1892G>T (p.Gly631Val) c.5027G>T (p.Gly1676Val) c.5018G>T (p.Gly1673Val) c.5009G>T (p.Gly1670Val) c.4895G>T (p.Gly1632Val) c.2879G>T (p.Gly960Val) c.569G>T (p.Gly190Val) n.5268G>T | |
| 18 | g.23876296T>A | CA503327794 | LAMA3 | c.174T>A (p.Gly58=) c.5001T>A (p.Gly1667=) c.1893T>A (p.Gly631=) c.5028T>A (p.Gly1676=) c.5019T>A (p.Gly1673=) c.5010T>A (p.Gly1670=) c.4896T>A (p.Gly1632=) c.2880T>A (p.Gly960=) c.570T>A (p.Gly190=) n.5269T>A | |
| 18 | g.23876296T>C | CA503327798 | LAMA3 | c.174T>C (p.Gly58=) c.5001T>C (p.Gly1667=) c.1893T>C (p.Gly631=) c.5028T>C (p.Gly1676=) c.5019T>C (p.Gly1673=) c.5010T>C (p.Gly1670=) c.4896T>C (p.Gly1632=) c.2880T>C (p.Gly960=) c.570T>C (p.Gly190=) n.5269T>C | |
| 18 | g.23876296T>G | CA503327795 | LAMA3 | c.174T>G (p.Gly58=) c.5001T>G (p.Gly1667=) c.1893T>G (p.Gly631=) c.5028T>G (p.Gly1676=) c.5019T>G (p.Gly1673=) c.5010T>G (p.Gly1670=) c.4896T>G (p.Gly1632=) c.2880T>G (p.Gly960=) c.570T>G (p.Gly190=) n.5269T>G | |
| 18 | g.23876297T>A | CA402044854 | LAMA3 | c.175T>A (p.Cys59Ser) c.5002T>A (p.Cys1668Ser) c.1894T>A (p.Cys632Ser) c.5029T>A (p.Cys1677Ser) c.5020T>A (p.Cys1674Ser) c.5011T>A (p.Cys1671Ser) c.4897T>A (p.Cys1633Ser) c.2881T>A (p.Cys961Ser) c.571T>A (p.Cys191Ser) n.5270T>A | |
| 18 | g.23876297T>C | CA402044855 | LAMA3 | c.175T>C (p.Cys59Arg) c.5002T>C (p.Cys1668Arg) c.1894T>C (p.Cys632Arg) c.5029T>C (p.Cys1677Arg) c.5020T>C (p.Cys1674Arg) c.5011T>C (p.Cys1671Arg) c.4897T>C (p.Cys1633Arg) c.2881T>C (p.Cys961Arg) c.571T>C (p.Cys191Arg) n.5270T>C | |
| 18 | g.23876297T>G | CA402044856 | LAMA3 | c.175T>G (p.Cys59Gly) c.5002T>G (p.Cys1668Gly) c.1894T>G (p.Cys632Gly) c.5029T>G (p.Cys1677Gly) c.5020T>G (p.Cys1674Gly) c.5011T>G (p.Cys1671Gly) c.4897T>G (p.Cys1633Gly) c.2881T>G (p.Cys961Gly) c.571T>G (p.Cys191Gly) n.5270T>G | |
| 18 | g.23876298G>A | CA402044859 | LAMA3 | c.176G>A (p.Cys59Tyr) c.5003G>A (p.Cys1668Tyr) c.1895G>A (p.Cys632Tyr) c.5030G>A (p.Cys1677Tyr) c.5021G>A (p.Cys1674Tyr) c.5012G>A (p.Cys1671Tyr) c.4898G>A (p.Cys1633Tyr) c.2882G>A (p.Cys961Tyr) c.572G>A (p.Cys191Tyr) n.5271G>A | |
| 18 | g.23876298G>C | CA402044857 | LAMA3 | c.176G>C (p.Cys59Ser) c.5003G>C (p.Cys1668Ser) c.1895G>C (p.Cys632Ser) c.5030G>C (p.Cys1677Ser) c.5021G>C (p.Cys1674Ser) c.5012G>C (p.Cys1671Ser) c.4898G>C (p.Cys1633Ser) c.2882G>C (p.Cys961Ser) c.572G>C (p.Cys191Ser) n.5271G>C | |
| 18 | g.23876298G>T | CA402044858 | LAMA3 | c.176G>T (p.Cys59Phe) c.5003G>T (p.Cys1668Phe) c.1895G>T (p.Cys632Phe) c.5030G>T (p.Cys1677Phe) c.5021G>T (p.Cys1674Phe) c.5012G>T (p.Cys1671Phe) c.4898G>T (p.Cys1633Phe) c.2882G>T (p.Cys961Phe) c.572G>T (p.Cys191Phe) n.5271G>T | |
| 18 | g.23876299T>A | CA402044860 | LAMA3 | c.177T>A (p.Cys59Ter) c.5004T>A (p.Cys1668Ter) c.1896T>A (p.Cys632Ter) c.5031T>A (p.Cys1677Ter) c.5022T>A (p.Cys1674Ter) c.5013T>A (p.Cys1671Ter) c.4899T>A (p.Cys1633Ter) c.2883T>A (p.Cys961Ter) c.573T>A (p.Cys191Ter) n.5272T>A | |
| 18 | g.23876299T>C | CA503327803 | LAMA3 | c.177T>C (p.Cys59=) c.5004T>C (p.Cys1668=) c.1896T>C (p.Cys632=) c.5031T>C (p.Cys1677=) c.5022T>C (p.Cys1674=) c.5013T>C (p.Cys1671=) c.4899T>C (p.Cys1633=) c.2883T>C (p.Cys961=) c.573T>C (p.Cys191=) n.5272T>C | gnomAD v4 |
| 18 | g.23876299T>G | CA402044861 | LAMA3 | c.177T>G (p.Cys59Trp) c.5004T>G (p.Cys1668Trp) c.1896T>G (p.Cys632Trp) c.5031T>G (p.Cys1677Trp) c.5022T>G (p.Cys1674Trp) c.5013T>G (p.Cys1671Trp) c.4899T>G (p.Cys1633Trp) c.2883T>G (p.Cys961Trp) c.573T>G (p.Cys191Trp) n.5272T>G | |
| 18 | g.23876300A>C | CA402044862 | LAMA3 | c.178A>C (p.Ser60Arg) c.5005A>C (p.Ser1669Arg) c.1897A>C (p.Ser633Arg) c.5032A>C (p.Ser1678Arg) c.5023A>C (p.Ser1675Arg) c.5014A>C (p.Ser1672Arg) c.4900A>C (p.Ser1634Arg) c.2884A>C (p.Ser962Arg) c.574A>C (p.Ser192Arg) n.5273A>C | |
| 18 | g.23876300A>G | CA402044863 | LAMA3 | c.178A>G (p.Ser60Gly) c.5005A>G (p.Ser1669Gly) c.1897A>G (p.Ser633Gly) c.5032A>G (p.Ser1678Gly) c.5023A>G (p.Ser1675Gly) c.5014A>G (p.Ser1672Gly) c.4900A>G (p.Ser1634Gly) c.2884A>G (p.Ser962Gly) c.574A>G (p.Ser192Gly) n.5273A>G | |
| 18 | g.23876300A>T | CA402044864 | LAMA3 | c.178A>T (p.Ser60Cys) c.5005A>T (p.Ser1669Cys) c.1897A>T (p.Ser633Cys) c.5032A>T (p.Ser1678Cys) c.5023A>T (p.Ser1675Cys) c.5014A>T (p.Ser1672Cys) c.4900A>T (p.Ser1634Cys) c.2884A>T (p.Ser962Cys) c.574A>T (p.Ser192Cys) n.5273A>T | |
| 18 | g.23876301G>A | CA402044865 | LAMA3 | c.179G>A (p.Ser60Asn) c.5006G>A (p.Ser1669Asn) c.1898G>A (p.Ser633Asn) c.5033G>A (p.Ser1678Asn) c.5024G>A (p.Ser1675Asn) c.5015G>A (p.Ser1672Asn) c.4901G>A (p.Ser1634Asn) c.2885G>A (p.Ser962Asn) c.575G>A (p.Ser192Asn) n.5274G>A | |
| 18 | g.23876301G>C | CA402044866 | LAMA3 | c.179G>C (p.Ser60Thr) c.5006G>C (p.Ser1669Thr) c.1898G>C (p.Ser633Thr) c.5033G>C (p.Ser1678Thr) c.5024G>C (p.Ser1675Thr) c.5015G>C (p.Ser1672Thr) c.4901G>C (p.Ser1634Thr) c.2885G>C (p.Ser962Thr) c.575G>C (p.Ser192Thr) n.5274G>C | |
| 18 | g.23876301G>T | CA402044867 | LAMA3 | c.179G>T (p.Ser60Ile) c.5006G>T (p.Ser1669Ile) c.1898G>T (p.Ser633Ile) c.5033G>T (p.Ser1678Ile) c.5024G>T (p.Ser1675Ile) c.5015G>T (p.Ser1672Ile) c.4901G>T (p.Ser1634Ile) c.2885G>T (p.Ser962Ile) c.575G>T (p.Ser192Ile) n.5274G>T | |
| 18 | g.23876302C>A | CA402044868 | LAMA3 | c.180C>A (p.Ser60Arg) c.5007C>A (p.Ser1669Arg) c.1899C>A (p.Ser633Arg) c.5034C>A (p.Ser1678Arg) c.5025C>A (p.Ser1675Arg) c.5016C>A (p.Ser1672Arg) c.4902C>A (p.Ser1634Arg) c.2886C>A (p.Ser962Arg) c.576C>A (p.Ser192Arg) n.5275C>A | gnomAD v4 |
| 18 | g.23876302C= | CA2290312320 | LAMA3 | c.180C= (p.Ser60=) c.5007C= (p.Ser1669=) c.1899C= (p.Ser633=) c.5034C= (p.Ser1678=) c.5025C= (p.Ser1675=) c.5016C= (p.Ser1672=) c.4902C= (p.Ser1634=) c.2886C= (p.Ser962=) c.576C= (p.Ser192=) n.5275C= | |
| 18 | g.23876302C>G | CA402044869 | LAMA3 | c.180C>G (p.Ser60Arg) c.5007C>G (p.Ser1669Arg) c.1899C>G (p.Ser633Arg) c.5034C>G (p.Ser1678Arg) c.5025C>G (p.Ser1675Arg) c.5016C>G (p.Ser1672Arg) c.4902C>G (p.Ser1634Arg) c.2886C>G (p.Ser962Arg) c.576C>G (p.Ser192Arg) n.5275C>G | |
| 18 | g.23876302C>T | CA8915861 | LAMA3 | c.180C>T (p.Ser60=) c.5007C>T (p.Ser1669=) c.1899C>T (p.Ser633=) c.5034C>T (p.Ser1678=) c.5025C>T (p.Ser1675=) c.5016C>T (p.Ser1672=) c.4902C>T (p.Ser1634=) c.2886C>T (p.Ser962=) c.576C>T (p.Ser192=) n.5275C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876303C>A | CA402044871 | LAMA3 | c.181C>A (p.Pro61Thr) c.5008C>A (p.Pro1670Thr) c.1900C>A (p.Pro634Thr) c.5035C>A (p.Pro1679Thr) c.5026C>A (p.Pro1676Thr) c.5017C>A (p.Pro1673Thr) c.4903C>A (p.Pro1635Thr) c.2887C>A (p.Pro963Thr) c.577C>A (p.Pro193Thr) n.5276C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876303C= | CA2290312321 | LAMA3 | c.181C= (p.Pro61=) c.5008C= (p.Pro1670=) c.1900C= (p.Pro634=) c.5035C= (p.Pro1679=) c.5026C= (p.Pro1676=) c.5017C= (p.Pro1673=) c.4903C= (p.Pro1635=) c.2887C= (p.Pro963=) c.577C= (p.Pro193=) n.5276C= | |
| 18 | g.23876303C>G | CA8915862 | LAMA3 | c.181C>G (p.Pro61Ala) c.5008C>G (p.Pro1670Ala) c.1900C>G (p.Pro634Ala) c.5035C>G (p.Pro1679Ala) c.5026C>G (p.Pro1676Ala) c.5017C>G (p.Pro1673Ala) c.4903C>G (p.Pro1635Ala) c.2887C>G (p.Pro963Ala) c.577C>G (p.Pro193Ala) n.5276C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876303C>T | CA402044870 | LAMA3 | c.181C>T (p.Pro61Ser) c.5008C>T (p.Pro1670Ser) c.1900C>T (p.Pro634Ser) c.5035C>T (p.Pro1679Ser) c.5026C>T (p.Pro1676Ser) c.5017C>T (p.Pro1673Ser) c.4903C>T (p.Pro1635Ser) c.2887C>T (p.Pro963Ser) c.577C>T (p.Pro193Ser) n.5276C>T | gnomAD v4 |
| 18 | g.23876304C>A | CA402044872 | LAMA3 | c.182C>A (p.Pro61His) c.5009C>A (p.Pro1670His) c.1901C>A (p.Pro634His) c.5036C>A (p.Pro1679His) c.5027C>A (p.Pro1676His) c.5018C>A (p.Pro1673His) c.4904C>A (p.Pro1635His) c.2888C>A (p.Pro963His) c.578C>A (p.Pro193His) n.5277C>A | |
| 18 | g.23876304C>G | CA402044873 | LAMA3 | c.182C>G (p.Pro61Arg) c.5009C>G (p.Pro1670Arg) c.1901C>G (p.Pro634Arg) c.5036C>G (p.Pro1679Arg) c.5027C>G (p.Pro1676Arg) c.5018C>G (p.Pro1673Arg) c.4904C>G (p.Pro1635Arg) c.2888C>G (p.Pro963Arg) c.578C>G (p.Pro193Arg) n.5277C>G | |
| 18 | g.23876304C>T | CA402044874 | LAMA3 | c.182C>T (p.Pro61Leu) c.5009C>T (p.Pro1670Leu) c.1901C>T (p.Pro634Leu) c.5036C>T (p.Pro1679Leu) c.5027C>T (p.Pro1676Leu) c.5018C>T (p.Pro1673Leu) c.4904C>T (p.Pro1635Leu) c.2888C>T (p.Pro963Leu) c.578C>T (p.Pro193Leu) n.5277C>T | COSMIC COSMIC |
| 18 | g.23876305T>A | CA503327807 | LAMA3 | c.183T>A (p.Pro61=) c.5010T>A (p.Pro1670=) c.1902T>A (p.Pro634=) c.5037T>A (p.Pro1679=) c.5028T>A (p.Pro1676=) c.5019T>A (p.Pro1673=) c.4905T>A (p.Pro1635=) c.2889T>A (p.Pro963=) c.579T>A (p.Pro193=) n.5278T>A | gnomAD v4 |
| 18 | g.23876305T>C | CA503327809 | LAMA3 | c.183T>C (p.Pro61=) c.5010T>C (p.Pro1670=) c.1902T>C (p.Pro634=) c.5037T>C (p.Pro1679=) c.5028T>C (p.Pro1676=) c.5019T>C (p.Pro1673=) c.4905T>C (p.Pro1635=) c.2889T>C (p.Pro963=) c.579T>C (p.Pro193=) n.5278T>C | |
| 18 | g.23876305T>G | CA503327811 | LAMA3 | c.183T>G (p.Pro61=) c.5010T>G (p.Pro1670=) c.1902T>G (p.Pro634=) c.5037T>G (p.Pro1679=) c.5028T>G (p.Pro1676=) c.5019T>G (p.Pro1673=) c.4905T>G (p.Pro1635=) c.2889T>G (p.Pro963=) c.579T>G (p.Pro193=) n.5278T>G | |
| 18 | g.23876306G>A | CA297091426 | LAMA3 | c.184G>A (p.Gly62Arg) c.5011G>A (p.Gly1671Arg) c.1903G>A (p.Gly635Arg) c.5038G>A (p.Gly1680Arg) c.5029G>A (p.Gly1677Arg) c.5020G>A (p.Gly1674Arg) c.4906G>A (p.Gly1636Arg) c.2890G>A (p.Gly964Arg) c.580G>A (p.Gly194Arg) n.5279G>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876306G>C | CA402044875 | LAMA3 | c.184G>C (p.Gly62Arg) c.5011G>C (p.Gly1671Arg) c.1903G>C (p.Gly635Arg) c.5038G>C (p.Gly1680Arg) c.5029G>C (p.Gly1677Arg) c.5020G>C (p.Gly1674Arg) c.4906G>C (p.Gly1636Arg) c.2890G>C (p.Gly964Arg) c.580G>C (p.Gly194Arg) n.5279G>C | |
| 18 | g.23876306G= | CA2290312322 | LAMA3 | c.184G= (p.Gly62=) c.5011G= (p.Gly1671=) c.1903G= (p.Gly635=) c.5038G= (p.Gly1680=) c.5029G= (p.Gly1677=) c.5020G= (p.Gly1674=) c.4906G= (p.Gly1636=) c.2890G= (p.Gly964=) c.580G= (p.Gly194=) n.5279G= | |
| 18 | g.23876306G>T | CA402044876 | LAMA3 | c.184G>T (p.Gly62Ter) c.5011G>T (p.Gly1671Ter) c.1903G>T (p.Gly635Ter) c.5038G>T (p.Gly1680Ter) c.5029G>T (p.Gly1677Ter) c.5020G>T (p.Gly1674Ter) c.4906G>T (p.Gly1636Ter) c.2890G>T (p.Gly964Ter) c.580G>T (p.Gly194Ter) n.5279G>T | |
| 18 | g.23876307G>A | CA402044877 | LAMA3 | c.185G>A (p.Gly62Glu) c.5012G>A (p.Gly1671Glu) c.1904G>A (p.Gly635Glu) c.5039G>A (p.Gly1680Glu) c.5030G>A (p.Gly1677Glu) c.5021G>A (p.Gly1674Glu) c.4907G>A (p.Gly1636Glu) c.2891G>A (p.Gly964Glu) c.581G>A (p.Gly194Glu) n.5280G>A | |
| 18 | g.23876307G>C | CA402044878 | LAMA3 | c.185G>C (p.Gly62Ala) c.5012G>C (p.Gly1671Ala) c.1904G>C (p.Gly635Ala) c.5039G>C (p.Gly1680Ala) c.5030G>C (p.Gly1677Ala) c.5021G>C (p.Gly1674Ala) c.4907G>C (p.Gly1636Ala) c.2891G>C (p.Gly964Ala) c.581G>C (p.Gly194Ala) n.5280G>C | |
| 18 | g.23876307G= | CA2290312323 | LAMA3 | c.185G= (p.Gly62=) c.5012G= (p.Gly1671=) c.1904G= (p.Gly635=) c.5039G= (p.Gly1680=) c.5030G= (p.Gly1677=) c.5021G= (p.Gly1674=) c.4907G= (p.Gly1636=) c.2891G= (p.Gly964=) c.581G= (p.Gly194=) n.5280G= | |
| 18 | g.23876307G>T | CA8915863 | LAMA3 | c.185G>T (p.Gly62Val) c.5012G>T (p.Gly1671Val) c.1904G>T (p.Gly635Val) c.5039G>T (p.Gly1680Val) c.5030G>T (p.Gly1677Val) c.5021G>T (p.Gly1674Val) c.4907G>T (p.Gly1636Val) c.2891G>T (p.Gly964Val) c.581G>T (p.Gly194Val) n.5280G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876308A= | CA2290312324 | LAMA3 | c.186A= (p.Gly62=) c.5013A= (p.Gly1671=) c.1905A= (p.Gly635=) c.5040A= (p.Gly1680=) c.5031A= (p.Gly1677=) c.5022A= (p.Gly1674=) c.4908A= (p.Gly1636=) c.2892A= (p.Gly964=) c.582A= (p.Gly194=) n.5281A= | |
| 18 | g.23876308A>C | CA503327812 | LAMA3 | c.186A>C (p.Gly62=) c.5013A>C (p.Gly1671=) c.1905A>C (p.Gly635=) c.5040A>C (p.Gly1680=) c.5031A>C (p.Gly1677=) c.5022A>C (p.Gly1674=) c.4908A>C (p.Gly1636=) c.2892A>C (p.Gly964=) c.582A>C (p.Gly194=) n.5281A>C | dbSNP |
| 18 | g.23876308A>G | CA503327813 | LAMA3 | c.186A>G (p.Gly62=) c.5013A>G (p.Gly1671=) c.1905A>G (p.Gly635=) c.5040A>G (p.Gly1680=) c.5031A>G (p.Gly1677=) c.5022A>G (p.Gly1674=) c.4908A>G (p.Gly1636=) c.2892A>G (p.Gly964=) c.582A>G (p.Gly194=) n.5281A>G | |
| 18 | g.23876308A>T | CA503327815 | LAMA3 | c.186A>T (p.Gly62=) c.5013A>T (p.Gly1671=) c.1905A>T (p.Gly635=) c.5040A>T (p.Gly1680=) c.5031A>T (p.Gly1677=) c.5022A>T (p.Gly1674=) c.4908A>T (p.Gly1636=) c.2892A>T (p.Gly964=) c.582A>T (p.Gly194=) n.5281A>T | |
| 18 | g.23876309T>A | CA402044879 | LAMA3 | c.187T>A (p.Tyr63Asn) c.5014T>A (p.Tyr1672Asn) c.1906T>A (p.Tyr636Asn) c.5041T>A (p.Tyr1681Asn) c.5032T>A (p.Tyr1678Asn) c.5023T>A (p.Tyr1675Asn) c.4909T>A (p.Tyr1637Asn) c.2893T>A (p.Tyr965Asn) c.583T>A (p.Tyr195Asn) n.5282T>A | |
| 18 | g.23876309T>C | CA402044880 | LAMA3 | c.187T>C (p.Tyr63His) c.5014T>C (p.Tyr1672His) c.1906T>C (p.Tyr636His) c.5041T>C (p.Tyr1681His) c.5032T>C (p.Tyr1678His) c.5023T>C (p.Tyr1675His) c.4909T>C (p.Tyr1637His) c.2893T>C (p.Tyr965His) c.583T>C (p.Tyr195His) n.5282T>C | |
| 18 | g.23876309T>G | CA402044881 | LAMA3 | c.187T>G (p.Tyr63Asp) c.5014T>G (p.Tyr1672Asp) c.1906T>G (p.Tyr636Asp) c.5041T>G (p.Tyr1681Asp) c.5032T>G (p.Tyr1678Asp) c.5023T>G (p.Tyr1675Asp) c.4909T>G (p.Tyr1637Asp) c.2893T>G (p.Tyr965Asp) c.583T>G (p.Tyr195Asp) n.5282T>G | |
| 18 | g.23876310A= | CA2290312325 | LAMA3 | c.188A= (p.Tyr63=) c.5015A= (p.Tyr1672=) c.1907A= (p.Tyr636=) c.5042A= (p.Tyr1681=) c.5033A= (p.Tyr1678=) c.5024A= (p.Tyr1675=) c.4910A= (p.Tyr1637=) c.2894A= (p.Tyr965=) c.584A= (p.Tyr195=) n.5283A= | |
| 18 | g.23876310A>C | CA402044884 | LAMA3 | c.188A>C (p.Tyr63Ser) c.5015A>C (p.Tyr1672Ser) c.1907A>C (p.Tyr636Ser) c.5042A>C (p.Tyr1681Ser) c.5033A>C (p.Tyr1678Ser) c.5024A>C (p.Tyr1675Ser) c.4910A>C (p.Tyr1637Ser) c.2894A>C (p.Tyr965Ser) c.584A>C (p.Tyr195Ser) n.5283A>C | |
| 18 | g.23876310A>G | CA402044882 | LAMA3 | c.188A>G (p.Tyr63Cys) c.5015A>G (p.Tyr1672Cys) c.1907A>G (p.Tyr636Cys) c.5042A>G (p.Tyr1681Cys) c.5033A>G (p.Tyr1678Cys) c.5024A>G (p.Tyr1675Cys) c.4910A>G (p.Tyr1637Cys) c.2894A>G (p.Tyr965Cys) c.584A>G (p.Tyr195Cys) n.5283A>G | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23876310A>T | CA402044883 | LAMA3 | c.188A>T (p.Tyr63Phe) c.5015A>T (p.Tyr1672Phe) c.1907A>T (p.Tyr636Phe) c.5042A>T (p.Tyr1681Phe) c.5033A>T (p.Tyr1678Phe) c.5024A>T (p.Tyr1675Phe) c.4910A>T (p.Tyr1637Phe) c.2894A>T (p.Tyr965Phe) c.584A>T (p.Tyr195Phe) n.5283A>T | |
| 18 | g.23876311C>A | CA402044885 | LAMA3 | c.189C>A (p.Tyr63Ter) c.5016C>A (p.Tyr1672Ter) c.1908C>A (p.Tyr636Ter) c.5043C>A (p.Tyr1681Ter) c.5034C>A (p.Tyr1678Ter) c.5025C>A (p.Tyr1675Ter) c.4911C>A (p.Tyr1637Ter) c.2895C>A (p.Tyr965Ter) c.585C>A (p.Tyr195Ter) n.5284C>A | ClinVar dbSNP |
| 18 | g.23876311C= | CA2290312326 | LAMA3 | c.189C= (p.Tyr63=) c.5016C= (p.Tyr1672=) c.1908C= (p.Tyr636=) c.5043C= (p.Tyr1681=) c.5034C= (p.Tyr1678=) c.5025C= (p.Tyr1675=) c.4911C= (p.Tyr1637=) c.2895C= (p.Tyr965=) c.585C= (p.Tyr195=) n.5284C= | |
| 18 | g.23876311C>G | CA402044886 | LAMA3 | c.189C>G (p.Tyr63Ter) c.5016C>G (p.Tyr1672Ter) c.1908C>G (p.Tyr636Ter) c.5043C>G (p.Tyr1681Ter) c.5034C>G (p.Tyr1678Ter) c.5025C>G (p.Tyr1675Ter) c.4911C>G (p.Tyr1637Ter) c.2895C>G (p.Tyr965Ter) c.585C>G (p.Tyr195Ter) n.5284C>G | |
| 18 | g.23876311C>T | CA503327818 | LAMA3 | c.189C>T (p.Tyr63=) c.5016C>T (p.Tyr1672=) c.1908C>T (p.Tyr636=) c.5043C>T (p.Tyr1681=) c.5034C>T (p.Tyr1678=) c.5025C>T (p.Tyr1675=) c.4911C>T (p.Tyr1637=) c.2895C>T (p.Tyr965=) c.585C>T (p.Tyr195=) n.5284C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23876312T>A | CA402044887 | LAMA3 | c.190T>A (p.Tyr64Asn) c.5017T>A (p.Tyr1673Asn) c.1909T>A (p.Tyr637Asn) c.5044T>A (p.Tyr1682Asn) c.5035T>A (p.Tyr1679Asn) c.5026T>A (p.Tyr1676Asn) c.4912T>A (p.Tyr1638Asn) c.2896T>A (p.Tyr966Asn) c.586T>A (p.Tyr196Asn) n.5285T>A | |
| 18 | g.23876312T>C | CA402044888 | LAMA3 | c.190T>C (p.Tyr64His) c.5017T>C (p.Tyr1673His) c.1909T>C (p.Tyr637His) c.5044T>C (p.Tyr1682His) c.5035T>C (p.Tyr1679His) c.5026T>C (p.Tyr1676His) c.4912T>C (p.Tyr1638His) c.2896T>C (p.Tyr966His) c.586T>C (p.Tyr196His) n.5285T>C | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23876312T>G | CA402044889 | LAMA3 | c.190T>G (p.Tyr64Asp) c.5017T>G (p.Tyr1673Asp) c.1909T>G (p.Tyr637Asp) c.5044T>G (p.Tyr1682Asp) c.5035T>G (p.Tyr1679Asp) c.5026T>G (p.Tyr1676Asp) c.4912T>G (p.Tyr1638Asp) c.2896T>G (p.Tyr966Asp) c.586T>G (p.Tyr196Asp) n.5285T>G | |
| 18 | g.23876312T= | CA2290312327 | LAMA3 | c.190T= (p.Tyr64=) c.5017T= (p.Tyr1673=) c.1909T= (p.Tyr637=) c.5044T= (p.Tyr1682=) c.5035T= (p.Tyr1679=) c.5026T= (p.Tyr1676=) c.4912T= (p.Tyr1638=) c.2896T= (p.Tyr966=) c.586T= (p.Tyr196=) n.5285T= | |
| 18 | g.23876313A= | CA2290312328 | LAMA3 | c.191A= (p.Tyr64=) c.5018A= (p.Tyr1673=) c.1910A= (p.Tyr637=) c.5045A= (p.Tyr1682=) c.5036A= (p.Tyr1679=) c.5027A= (p.Tyr1676=) c.4913A= (p.Tyr1638=) c.2897A= (p.Tyr966=) c.587A= (p.Tyr196=) n.5286A= | |
| 18 | g.23876313A>C | CA402044890 | LAMA3 | c.191A>C (p.Tyr64Ser) c.5018A>C (p.Tyr1673Ser) c.1910A>C (p.Tyr637Ser) c.5045A>C (p.Tyr1682Ser) c.5036A>C (p.Tyr1679Ser) c.5027A>C (p.Tyr1676Ser) c.4913A>C (p.Tyr1638Ser) c.2897A>C (p.Tyr966Ser) c.587A>C (p.Tyr196Ser) n.5286A>C | |
| 18 | g.23876313A>G | CA8915864 | LAMA3 | c.191A>G (p.Tyr64Cys) c.5018A>G (p.Tyr1673Cys) c.1910A>G (p.Tyr637Cys) c.5045A>G (p.Tyr1682Cys) c.5036A>G (p.Tyr1679Cys) c.5027A>G (p.Tyr1676Cys) c.4913A>G (p.Tyr1638Cys) c.2897A>G (p.Tyr966Cys) c.587A>G (p.Tyr196Cys) n.5286A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876313A>T | CA402044891 | LAMA3 | c.191A>T (p.Tyr64Phe) c.5018A>T (p.Tyr1673Phe) c.1910A>T (p.Tyr637Phe) c.5045A>T (p.Tyr1682Phe) c.5036A>T (p.Tyr1679Phe) c.5027A>T (p.Tyr1676Phe) c.4913A>T (p.Tyr1638Phe) c.2897A>T (p.Tyr966Phe) c.587A>T (p.Tyr196Phe) n.5286A>T | |
| 18 | g.23876314T>A | CA402044892 | LAMA3 | c.192T>A (p.Tyr64Ter) c.5019T>A (p.Tyr1673Ter) c.1911T>A (p.Tyr637Ter) c.5046T>A (p.Tyr1682Ter) c.5037T>A (p.Tyr1679Ter) c.5028T>A (p.Tyr1676Ter) c.4914T>A (p.Tyr1638Ter) c.2898T>A (p.Tyr966Ter) c.588T>A (p.Tyr196Ter) n.5287T>A | |
| 18 | g.23876314T>C | CA503327823 | LAMA3 | c.192T>C (p.Tyr64=) c.5019T>C (p.Tyr1673=) c.1911T>C (p.Tyr637=) c.5046T>C (p.Tyr1682=) c.5037T>C (p.Tyr1679=) c.5028T>C (p.Tyr1676=) c.4914T>C (p.Tyr1638=) c.2898T>C (p.Tyr966=) c.588T>C (p.Tyr196=) n.5287T>C | |
| 18 | g.23876314T>G | CA402044893 | LAMA3 | c.192T>G (p.Tyr64Ter) c.5019T>G (p.Tyr1673Ter) c.1911T>G (p.Tyr637Ter) c.5046T>G (p.Tyr1682Ter) c.5037T>G (p.Tyr1679Ter) c.5028T>G (p.Tyr1676Ter) c.4914T>G (p.Tyr1638Ter) c.2898T>G (p.Tyr966Ter) c.588T>G (p.Tyr196Ter) n.5287T>G | |
| 18 | g.23876315C>A | CA503327825 | LAMA3 | c.193C>A (p.Arg65=) c.5020C>A (p.Arg1674=) c.1912C>A (p.Arg638=) c.5047C>A (p.Arg1683=) c.5038C>A (p.Arg1680=) c.5029C>A (p.Arg1677=) c.4915C>A (p.Arg1639=) c.2899C>A (p.Arg967=) c.589C>A (p.Arg197=) n.5288C>A | dbSNP |
| 18 | g.23876315C= | CA2290312329 | LAMA3 | c.193C= (p.Arg65=) c.5020C= (p.Arg1674=) c.1912C= (p.Arg638=) c.5047C= (p.Arg1683=) c.5038C= (p.Arg1680=) c.5029C= (p.Arg1677=) c.4915C= (p.Arg1639=) c.2899C= (p.Arg967=) c.589C= (p.Arg197=) n.5288C= | |
| 18 | g.23876315C>G | CA402044894 | LAMA3 | c.193C>G (p.Arg65Gly) c.5020C>G (p.Arg1674Gly) c.1912C>G (p.Arg638Gly) c.5047C>G (p.Arg1683Gly) c.5038C>G (p.Arg1680Gly) c.5029C>G (p.Arg1677Gly) c.4915C>G (p.Arg1639Gly) c.2899C>G (p.Arg967Gly) c.589C>G (p.Arg197Gly) n.5288C>G | |
| 18 | g.23876315C>T | CA8915865 | LAMA3 | c.193C>T (p.Arg65Trp) c.5020C>T (p.Arg1674Trp) c.1912C>T (p.Arg638Trp) c.5047C>T (p.Arg1683Trp) c.5038C>T (p.Arg1680Trp) c.5029C>T (p.Arg1677Trp) c.4915C>T (p.Arg1639Trp) c.2899C>T (p.Arg967Trp) c.589C>T (p.Arg197Trp) n.5288C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876316G>A | CA8915866 | LAMA3 | c.194G>A (p.Arg65Gln) c.5021G>A (p.Arg1674Gln) c.1913G>A (p.Arg638Gln) c.5048G>A (p.Arg1683Gln) c.5039G>A (p.Arg1680Gln) c.5030G>A (p.Arg1677Gln) c.4916G>A (p.Arg1639Gln) c.2900G>A (p.Arg967Gln) c.590G>A (p.Arg197Gln) n.5289G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876316G>C | CA402044896 | LAMA3 | c.194G>C (p.Arg65Pro) c.5021G>C (p.Arg1674Pro) c.1913G>C (p.Arg638Pro) c.5048G>C (p.Arg1683Pro) c.5039G>C (p.Arg1680Pro) c.5030G>C (p.Arg1677Pro) c.4916G>C (p.Arg1639Pro) c.2900G>C (p.Arg967Pro) c.590G>C (p.Arg197Pro) n.5289G>C | gnomAD v4 |
| 18 | g.23876316G= | CA2290312330 | LAMA3 | c.194G= (p.Arg65=) c.5021G= (p.Arg1674=) c.1913G= (p.Arg638=) c.5048G= (p.Arg1683=) c.5039G= (p.Arg1680=) c.5030G= (p.Arg1677=) c.4916G= (p.Arg1639=) c.2900G= (p.Arg967=) c.590G= (p.Arg197=) n.5289G= | |
| 18 | g.23876316G>T | CA402044895 | LAMA3 | c.194G>T (p.Arg65Leu) c.5021G>T (p.Arg1674Leu) c.1913G>T (p.Arg638Leu) c.5048G>T (p.Arg1683Leu) c.5039G>T (p.Arg1680Leu) c.5030G>T (p.Arg1677Leu) c.4916G>T (p.Arg1639Leu) c.2900G>T (p.Arg967Leu) c.590G>T (p.Arg197Leu) n.5289G>T | |
| 18 | g.23876317G>A | CA503327826 | LAMA3 | c.195G>A (p.Arg65=) c.5022G>A (p.Arg1674=) c.1914G>A (p.Arg638=) c.5049G>A (p.Arg1683=) c.5040G>A (p.Arg1680=) c.5031G>A (p.Arg1677=) c.4917G>A (p.Arg1639=) c.2901G>A (p.Arg967=) c.591G>A (p.Arg197=) n.5290G>A | dbSNP |
| 18 | g.23876317G>C | CA503327827 | LAMA3 | c.195G>C (p.Arg65=) c.5022G>C (p.Arg1674=) c.1914G>C (p.Arg638=) c.5049G>C (p.Arg1683=) c.5040G>C (p.Arg1680=) c.5031G>C (p.Arg1677=) c.4917G>C (p.Arg1639=) c.2901G>C (p.Arg967=) c.591G>C (p.Arg197=) n.5290G>C | |
| 18 | g.23876317G= | CA2290312331 | LAMA3 | c.195G= (p.Arg65=) c.5022G= (p.Arg1674=) c.1914G= (p.Arg638=) c.5049G= (p.Arg1683=) c.5040G= (p.Arg1680=) c.5031G= (p.Arg1677=) c.4917G= (p.Arg1639=) c.2901G= (p.Arg967=) c.591G= (p.Arg197=) n.5290G= | |
| 18 | g.23876317G>T | CA503327830 | LAMA3 | c.195G>T (p.Arg65=) c.5022G>T (p.Arg1674=) c.1914G>T (p.Arg638=) c.5049G>T (p.Arg1683=) c.5040G>T (p.Arg1680=) c.5031G>T (p.Arg1677=) c.4917G>T (p.Arg1639=) c.2901G>T (p.Arg967=) c.591G>T (p.Arg197=) n.5290G>T | |
| 18 | g.23876318G>A | CA402044899 | LAMA3 | c.196G>A (p.Asp66Asn) c.5023G>A (p.Asp1675Asn) c.1915G>A (p.Asp639Asn) c.5050G>A (p.Asp1684Asn) c.5041G>A (p.Asp1681Asn) c.5032G>A (p.Asp1678Asn) c.4918G>A (p.Asp1640Asn) c.2902G>A (p.Asp968Asn) c.592G>A (p.Asp198Asn) n.5291G>A | gnomAD v4 |
| 18 | g.23876318G>C | CA402044897 | LAMA3 | c.196G>C (p.Asp66His) c.5023G>C (p.Asp1675His) c.1915G>C (p.Asp639His) c.5050G>C (p.Asp1684His) c.5041G>C (p.Asp1681His) c.5032G>C (p.Asp1678His) c.4918G>C (p.Asp1640His) c.2902G>C (p.Asp968His) c.592G>C (p.Asp198His) n.5291G>C | |
| 18 | g.23876318G>T | CA402044898 | LAMA3 | c.196G>T (p.Asp66Tyr) c.5023G>T (p.Asp1675Tyr) c.1915G>T (p.Asp639Tyr) c.5050G>T (p.Asp1684Tyr) c.5041G>T (p.Asp1681Tyr) c.5032G>T (p.Asp1678Tyr) c.4918G>T (p.Asp1640Tyr) c.2902G>T (p.Asp968Tyr) c.592G>T (p.Asp198Tyr) n.5291G>T | gnomAD v4 |
| 18 | g.23876319A= | CA2290312332 | LAMA3 | c.197A= (p.Asp66=) c.5024A= (p.Asp1675=) c.1916A= (p.Asp639=) c.5051A= (p.Asp1684=) c.5042A= (p.Asp1681=) c.5033A= (p.Asp1678=) c.4919A= (p.Asp1640=) c.2903A= (p.Asp968=) c.593A= (p.Asp198=) n.5292A= | |
| 18 | g.23876319A>C | CA402044900 | LAMA3 | c.197A>C (p.Asp66Ala) c.5024A>C (p.Asp1675Ala) c.1916A>C (p.Asp639Ala) c.5051A>C (p.Asp1684Ala) c.5042A>C (p.Asp1681Ala) c.5033A>C (p.Asp1678Ala) c.4919A>C (p.Asp1640Ala) c.2903A>C (p.Asp968Ala) c.593A>C (p.Asp198Ala) n.5292A>C | |
| 18 | g.23876319A>G | CA402044901 | LAMA3 | c.197A>G (p.Asp66Gly) c.5024A>G (p.Asp1675Gly) c.1916A>G (p.Asp639Gly) c.5051A>G (p.Asp1684Gly) c.5042A>G (p.Asp1681Gly) c.5033A>G (p.Asp1678Gly) c.4919A>G (p.Asp1640Gly) c.2903A>G (p.Asp968Gly) c.593A>G (p.Asp198Gly) n.5292A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876319A>T | CA402044902 | LAMA3 | c.197A>T (p.Asp66Val) c.5024A>T (p.Asp1675Val) c.1916A>T (p.Asp639Val) c.5051A>T (p.Asp1684Val) c.5042A>T (p.Asp1681Val) c.5033A>T (p.Asp1678Val) c.4919A>T (p.Asp1640Val) c.2903A>T (p.Asp968Val) c.593A>T (p.Asp198Val) n.5292A>T | gnomAD v4 |
| 18 | g.23876320T>A | CA402044903 | LAMA3 | c.198T>A (p.Asp66Glu) c.5025T>A (p.Asp1675Glu) c.1917T>A (p.Asp639Glu) c.5052T>A (p.Asp1684Glu) c.5043T>A (p.Asp1681Glu) c.5034T>A (p.Asp1678Glu) c.4920T>A (p.Asp1640Glu) c.2904T>A (p.Asp968Glu) c.594T>A (p.Asp198Glu) n.5293T>A | |
| 18 | g.23876320T>C | CA503327834 | LAMA3 | c.198T>C (p.Asp66=) c.5025T>C (p.Asp1675=) c.1917T>C (p.Asp639=) c.5052T>C (p.Asp1684=) c.5043T>C (p.Asp1681=) c.5034T>C (p.Asp1678=) c.4920T>C (p.Asp1640=) c.2904T>C (p.Asp968=) c.594T>C (p.Asp198=) n.5293T>C | |
| 18 | g.23876320T>G | CA402044904 | LAMA3 | c.198T>G (p.Asp66Glu) c.5025T>G (p.Asp1675Glu) c.1917T>G (p.Asp639Glu) c.5052T>G (p.Asp1684Glu) c.5043T>G (p.Asp1681Glu) c.5034T>G (p.Asp1678Glu) c.4920T>G (p.Asp1640Glu) c.2904T>G (p.Asp968Glu) c.594T>G (p.Asp198Glu) n.5293T>G | |
| 18 | g.23876321C>A | CA402044905 | LAMA3 | c.199C>A (p.His67Asn) c.5026C>A (p.His1676Asn) c.1918C>A (p.His640Asn) c.5053C>A (p.His1685Asn) c.5044C>A (p.His1682Asn) c.5035C>A (p.His1679Asn) c.4921C>A (p.His1641Asn) c.2905C>A (p.His969Asn) c.595C>A (p.His199Asn) n.5294C>A | |
| 18 | g.23876321C>G | CA402044906 | LAMA3 | c.199C>G (p.His67Asp) c.5026C>G (p.His1676Asp) c.1918C>G (p.His640Asp) c.5053C>G (p.His1685Asp) c.5044C>G (p.His1682Asp) c.5035C>G (p.His1679Asp) c.4921C>G (p.His1641Asp) c.2905C>G (p.His969Asp) c.595C>G (p.His199Asp) n.5294C>G | gnomAD v4 |
| 18 | g.23876321C>T | CA402044907 | LAMA3 | c.199C>T (p.His67Tyr) c.5026C>T (p.His1676Tyr) c.1918C>T (p.His640Tyr) c.5053C>T (p.His1685Tyr) c.5044C>T (p.His1682Tyr) c.5035C>T (p.His1679Tyr) c.4921C>T (p.His1641Tyr) c.2905C>T (p.His969Tyr) c.595C>T (p.His199Tyr) n.5294C>T | |
| 18 | g.23876322A= | CA2290312333 | LAMA3 | c.200A= (p.His67=) c.5027A= (p.His1676=) c.1919A= (p.His640=) c.5054A= (p.His1685=) c.5045A= (p.His1682=) c.5036A= (p.His1679=) c.4922A= (p.His1641=) c.2906A= (p.His969=) c.596A= (p.His199=) n.5295A= | |
| 18 | g.23876322A>C | CA8915867 | LAMA3 | c.200A>C (p.His67Pro) c.5027A>C (p.His1676Pro) c.1919A>C (p.His640Pro) c.5054A>C (p.His1685Pro) c.5045A>C (p.His1682Pro) c.5036A>C (p.His1679Pro) c.4922A>C (p.His1641Pro) c.2906A>C (p.His969Pro) c.596A>C (p.His199Pro) n.5295A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876322A>G | CA402044908 | LAMA3 | c.200A>G (p.His67Arg) c.5027A>G (p.His1676Arg) c.1919A>G (p.His640Arg) c.5054A>G (p.His1685Arg) c.5045A>G (p.His1682Arg) c.5036A>G (p.His1679Arg) c.4922A>G (p.His1641Arg) c.2906A>G (p.His969Arg) c.596A>G (p.His199Arg) n.5295A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876322A>T | CA402044909 | LAMA3 | c.200A>T (p.His67Leu) c.5027A>T (p.His1676Leu) c.1919A>T (p.His640Leu) c.5054A>T (p.His1685Leu) c.5045A>T (p.His1682Leu) c.5036A>T (p.His1679Leu) c.4922A>T (p.His1641Leu) c.2906A>T (p.His969Leu) c.596A>T (p.His199Leu) n.5295A>T | |
| 18 | g.23876323T>A | CA402044911 | LAMA3 | c.201T>A (p.His67Gln) c.5028T>A (p.His1676Gln) c.1920T>A (p.His640Gln) c.5055T>A (p.His1685Gln) c.5046T>A (p.His1682Gln) c.5037T>A (p.His1679Gln) c.4923T>A (p.His1641Gln) c.2907T>A (p.His969Gln) c.597T>A (p.His199Gln) n.5296T>A | |
| 18 | g.23876323T>C | CA503327839 | LAMA3 | c.201T>C (p.His67=) c.5028T>C (p.His1676=) c.1920T>C (p.His640=) c.5055T>C (p.His1685=) c.5046T>C (p.His1682=) c.5037T>C (p.His1679=) c.4923T>C (p.His1641=) c.2907T>C (p.His969=) c.597T>C (p.His199=) n.5296T>C | |
| 18 | g.23876323T>G | CA402044910 | LAMA3 | c.201T>G (p.His67Gln) c.5028T>G (p.His1676Gln) c.1920T>G (p.His640Gln) c.5055T>G (p.His1685Gln) c.5046T>G (p.His1682Gln) c.5037T>G (p.His1679Gln) c.4923T>G (p.His1641Gln) c.2907T>G (p.His969Gln) c.597T>G (p.His199Gln) n.5296T>G | |
| 18 | g.23876324A>C | CA402044912 | LAMA3 | c.202A>C (p.Lys68Gln) c.5029A>C (p.Lys1677Gln) c.1921A>C (p.Lys641Gln) c.5056A>C (p.Lys1686Gln) c.5047A>C (p.Lys1683Gln) c.5038A>C (p.Lys1680Gln) c.4924A>C (p.Lys1642Gln) c.2908A>C (p.Lys970Gln) c.598A>C (p.Lys200Gln) n.5297A>C | |
| 18 | g.23876324A>G | CA402044913 | LAMA3 | c.202A>G (p.Lys68Glu) c.5029A>G (p.Lys1677Glu) c.1921A>G (p.Lys641Glu) c.5056A>G (p.Lys1686Glu) c.5047A>G (p.Lys1683Glu) c.5038A>G (p.Lys1680Glu) c.4924A>G (p.Lys1642Glu) c.2908A>G (p.Lys970Glu) c.598A>G (p.Lys200Glu) n.5297A>G | |
| 18 | g.23876324A>T | CA402044914 | LAMA3 | c.202A>T (p.Lys68Ter) c.5029A>T (p.Lys1677Ter) c.1921A>T (p.Lys641Ter) c.5056A>T (p.Lys1686Ter) c.5047A>T (p.Lys1683Ter) c.5038A>T (p.Lys1680Ter) c.4924A>T (p.Lys1642Ter) c.2908A>T (p.Lys970Ter) c.598A>T (p.Lys200Ter) n.5297A>T | |
| 18 | g.23876325A>C | CA402044915 | LAMA3 | c.203A>C (p.Lys68Thr) c.5030A>C (p.Lys1677Thr) c.1922A>C (p.Lys641Thr) c.5057A>C (p.Lys1686Thr) c.5048A>C (p.Lys1683Thr) c.5039A>C (p.Lys1680Thr) c.4925A>C (p.Lys1642Thr) c.2909A>C (p.Lys970Thr) c.599A>C (p.Lys200Thr) n.5298A>C | |
| 18 | g.23876325A>G | CA402044916 | LAMA3 | c.203A>G (p.Lys68Arg) c.5030A>G (p.Lys1677Arg) c.1922A>G (p.Lys641Arg) c.5057A>G (p.Lys1686Arg) c.5048A>G (p.Lys1683Arg) c.5039A>G (p.Lys1680Arg) c.4925A>G (p.Lys1642Arg) c.2909A>G (p.Lys970Arg) c.599A>G (p.Lys200Arg) n.5298A>G | |
| 18 | g.23876325A>T | CA402044917 | LAMA3 | c.203A>T (p.Lys68Ile) c.5030A>T (p.Lys1677Ile) c.1922A>T (p.Lys641Ile) c.5057A>T (p.Lys1686Ile) c.5048A>T (p.Lys1683Ile) c.5039A>T (p.Lys1680Ile) c.4925A>T (p.Lys1642Ile) c.2909A>T (p.Lys970Ile) c.599A>T (p.Lys200Ile) n.5298A>T | |
| 18 | g.23876326A>C | CA402044918 | LAMA3 | c.204A>C (p.Lys68Asn) c.5031A>C (p.Lys1677Asn) c.1923A>C (p.Lys641Asn) c.5058A>C (p.Lys1686Asn) c.5049A>C (p.Lys1683Asn) c.5040A>C (p.Lys1680Asn) c.4926A>C (p.Lys1642Asn) c.2910A>C (p.Lys970Asn) c.600A>C (p.Lys200Asn) n.5299A>C | COSMIC COSMIC |
| 18 | g.23876326A>G | CA503327842 | LAMA3 | c.204A>G (p.Lys68=) c.5031A>G (p.Lys1677=) c.1923A>G (p.Lys641=) c.5058A>G (p.Lys1686=) c.5049A>G (p.Lys1683=) c.5040A>G (p.Lys1680=) c.4926A>G (p.Lys1642=) c.2910A>G (p.Lys970=) c.600A>G (p.Lys200=) n.5299A>G | |
| 18 | g.23876326A>T | CA402044919 | LAMA3 | c.204A>T (p.Lys68Asn) c.5031A>T (p.Lys1677Asn) c.1923A>T (p.Lys641Asn) c.5058A>T (p.Lys1686Asn) c.5049A>T (p.Lys1683Asn) c.5040A>T (p.Lys1680Asn) c.4926A>T (p.Lys1642Asn) c.2910A>T (p.Lys970Asn) c.600A>T (p.Lys200Asn) n.5299A>T | |
| 18 | g.23876327G>A | CA402044920 | LAMA3 | c.205G>A (p.Gly69Ser) c.5032G>A (p.Gly1678Ser) c.1924G>A (p.Gly642Ser) c.5059G>A (p.Gly1687Ser) c.5050G>A (p.Gly1684Ser) c.5041G>A (p.Gly1681Ser) c.4927G>A (p.Gly1643Ser) c.2911G>A (p.Gly971Ser) c.601G>A (p.Gly201Ser) n.5300G>A | dbSNP |
| 18 | g.23876327G>C | CA402044921 | LAMA3 | c.205G>C (p.Gly69Arg) c.5032G>C (p.Gly1678Arg) c.1924G>C (p.Gly642Arg) c.5059G>C (p.Gly1687Arg) c.5050G>C (p.Gly1684Arg) c.5041G>C (p.Gly1681Arg) c.4927G>C (p.Gly1643Arg) c.2911G>C (p.Gly971Arg) c.601G>C (p.Gly201Arg) n.5300G>C | |
| 18 | g.23876327G= | CA2290312334 | LAMA3 | c.205G= (p.Gly69=) c.5032G= (p.Gly1678=) c.1924G= (p.Gly642=) c.5059G= (p.Gly1687=) c.5050G= (p.Gly1684=) c.5041G= (p.Gly1681=) c.4927G= (p.Gly1643=) c.2911G= (p.Gly971=) c.601G= (p.Gly201=) n.5300G= | |
| 18 | g.23876327G>T | CA402044922 | LAMA3 | c.205G>T (p.Gly69Cys) c.5032G>T (p.Gly1678Cys) c.1924G>T (p.Gly642Cys) c.5059G>T (p.Gly1687Cys) c.5050G>T (p.Gly1684Cys) c.5041G>T (p.Gly1681Cys) c.4927G>T (p.Gly1643Cys) c.2911G>T (p.Gly971Cys) c.601G>T (p.Gly201Cys) n.5300G>T | |
| 18 | g.23876328G>A | CA402044923 | LAMA3 | c.206G>A (p.Gly69Asp) c.5033G>A (p.Gly1678Asp) c.1925G>A (p.Gly642Asp) c.5060G>A (p.Gly1687Asp) c.5051G>A (p.Gly1684Asp) c.5042G>A (p.Gly1681Asp) c.4928G>A (p.Gly1643Asp) c.2912G>A (p.Gly971Asp) c.602G>A (p.Gly201Asp) n.5301G>A | |
| 18 | g.23876328G>C | CA402044924 | LAMA3 | c.206G>C (p.Gly69Ala) c.5033G>C (p.Gly1678Ala) c.1925G>C (p.Gly642Ala) c.5060G>C (p.Gly1687Ala) c.5051G>C (p.Gly1684Ala) c.5042G>C (p.Gly1681Ala) c.4928G>C (p.Gly1643Ala) c.2912G>C (p.Gly971Ala) c.602G>C (p.Gly201Ala) n.5301G>C | |
| 18 | g.23876328G= | CA2290312335 | LAMA3 | c.206G= (p.Gly69=) c.5033G= (p.Gly1678=) c.1925G= (p.Gly642=) c.5060G= (p.Gly1687=) c.5051G= (p.Gly1684=) c.5042G= (p.Gly1681=) c.4928G= (p.Gly1643=) c.2912G= (p.Gly971=) c.602G= (p.Gly201=) n.5301G= | |
| 18 | g.23876328G>T | CA402044925 | LAMA3 | c.206G>T (p.Gly69Val) c.5033G>T (p.Gly1678Val) c.1925G>T (p.Gly642Val) c.5060G>T (p.Gly1687Val) c.5051G>T (p.Gly1684Val) c.5042G>T (p.Gly1681Val) c.4928G>T (p.Gly1643Val) c.2912G>T (p.Gly971Val) c.602G>T (p.Gly201Val) n.5301G>T | dbSNP gnomAD v4 |
| 18 | g.23876329C>A | CA503327847 | LAMA3 | c.207C>A (p.Gly69=) c.5034C>A (p.Gly1678=) c.1926C>A (p.Gly642=) c.5061C>A (p.Gly1687=) c.5052C>A (p.Gly1684=) c.5043C>A (p.Gly1681=) c.4929C>A (p.Gly1643=) c.2913C>A (p.Gly971=) c.603C>A (p.Gly201=) n.5302C>A | |
| 18 | g.23876329C>G | CA503327848 | LAMA3 | c.207C>G (p.Gly69=) c.5034C>G (p.Gly1678=) c.1926C>G (p.Gly642=) c.5061C>G (p.Gly1687=) c.5052C>G (p.Gly1684=) c.5043C>G (p.Gly1681=) c.4929C>G (p.Gly1643=) c.2913C>G (p.Gly971=) c.603C>G (p.Gly201=) n.5302C>G | ClinVar gnomAD v4 |
| 18 | g.23876329C>T | CA503327850 | LAMA3 | c.207C>T (p.Gly69=) c.5034C>T (p.Gly1678=) c.1926C>T (p.Gly642=) c.5061C>T (p.Gly1687=) c.5052C>T (p.Gly1684=) c.5043C>T (p.Gly1681=) c.4929C>T (p.Gly1643=) c.2913C>T (p.Gly971=) c.603C>T (p.Gly201=) n.5302C>T | |
| 18 | g.23876330T>A | CA402044926 | LAMA3 | c.208T>A (p.Leu70Met) c.5035T>A (p.Leu1679Met) c.1927T>A (p.Leu643Met) c.5062T>A (p.Leu1688Met) c.5053T>A (p.Leu1685Met) c.5044T>A (p.Leu1682Met) c.4930T>A (p.Leu1644Met) c.2914T>A (p.Leu972Met) c.604T>A (p.Leu202Met) n.5303T>A | |
| 18 | g.23876330T>C | CA503327851 | LAMA3 | c.208T>C (p.Leu70=) c.5035T>C (p.Leu1679=) c.1927T>C (p.Leu643=) c.5062T>C (p.Leu1688=) c.5053T>C (p.Leu1685=) c.5044T>C (p.Leu1682=) c.4930T>C (p.Leu1644=) c.2914T>C (p.Leu972=) c.604T>C (p.Leu202=) n.5303T>C | |
| 18 | g.23876330T>G | CA402044927 | LAMA3 | c.208T>G (p.Leu70Val) c.5035T>G (p.Leu1679Val) c.1927T>G (p.Leu643Val) c.5062T>G (p.Leu1688Val) c.5053T>G (p.Leu1685Val) c.5044T>G (p.Leu1682Val) c.4930T>G (p.Leu1644Val) c.2914T>G (p.Leu972Val) c.604T>G (p.Leu202Val) n.5303T>G | |
| 18 | g.23876331T>A | CA402044928 | LAMA3 | c.209T>A (p.Leu70Ter) c.5036T>A (p.Leu1679Ter) c.1928T>A (p.Leu643Ter) c.5063T>A (p.Leu1688Ter) c.5054T>A (p.Leu1685Ter) c.5045T>A (p.Leu1682Ter) c.4931T>A (p.Leu1644Ter) c.2915T>A (p.Leu972Ter) c.605T>A (p.Leu202Ter) n.5304T>A | |
| 18 | g.23876331T>C | CA402044929 | LAMA3 | c.209T>C (p.Leu70Ser) c.5036T>C (p.Leu1679Ser) c.1928T>C (p.Leu643Ser) c.5063T>C (p.Leu1688Ser) c.5054T>C (p.Leu1685Ser) c.5045T>C (p.Leu1682Ser) c.4931T>C (p.Leu1644Ser) c.2915T>C (p.Leu972Ser) c.605T>C (p.Leu202Ser) n.5304T>C | |
| 18 | g.23876331T>G | CA402044930 | LAMA3 | c.209T>G (p.Leu70Trp) c.5036T>G (p.Leu1679Trp) c.1928T>G (p.Leu643Trp) c.5063T>G (p.Leu1688Trp) c.5054T>G (p.Leu1685Trp) c.5045T>G (p.Leu1682Trp) c.4931T>G (p.Leu1644Trp) c.2915T>G (p.Leu972Trp) c.605T>G (p.Leu202Trp) n.5304T>G | |
| 18 | g.23876332G>A | CA503327854 | LAMA3 | c.210G>A (p.Leu70=) c.5037G>A (p.Leu1679=) c.1929G>A (p.Leu643=) c.5064G>A (p.Leu1688=) c.5055G>A (p.Leu1685=) c.5046G>A (p.Leu1682=) c.4932G>A (p.Leu1644=) c.2916G>A (p.Leu972=) c.606G>A (p.Leu202=) n.5305G>A | ClinVar |
| 18 | g.23876332G>C | CA402044931 | LAMA3 | c.210G>C (p.Leu70Phe) c.5037G>C (p.Leu1679Phe) c.1929G>C (p.Leu643Phe) c.5064G>C (p.Leu1688Phe) c.5055G>C (p.Leu1685Phe) c.5046G>C (p.Leu1682Phe) c.4932G>C (p.Leu1644Phe) c.2916G>C (p.Leu972Phe) c.606G>C (p.Leu202Phe) n.5305G>C | |
| 18 | g.23876332G>T | CA402044932 | LAMA3 | c.210G>T (p.Leu70Phe) c.5037G>T (p.Leu1679Phe) c.1929G>T (p.Leu643Phe) c.5064G>T (p.Leu1688Phe) c.5055G>T (p.Leu1685Phe) c.5046G>T (p.Leu1682Phe) c.4932G>T (p.Leu1644Phe) c.2916G>T (p.Leu972Phe) c.606G>T (p.Leu202Phe) n.5305G>T | |
| 18 | g.23876333T>A | CA402044933 | LAMA3 | c.211T>A (p.Tyr71Asn) c.5038T>A (p.Tyr1680Asn) c.1930T>A (p.Tyr644Asn) c.5065T>A (p.Tyr1689Asn) c.5056T>A (p.Tyr1686Asn) c.5047T>A (p.Tyr1683Asn) c.4933T>A (p.Tyr1645Asn) c.2917T>A (p.Tyr973Asn) c.607T>A (p.Tyr203Asn) n.5306T>A | |
| 18 | g.23876333T>C | CA297091427 | LAMA3 | c.211T>C (p.Tyr71His) c.5038T>C (p.Tyr1680His) c.1930T>C (p.Tyr644His) c.5065T>C (p.Tyr1689His) c.5056T>C (p.Tyr1686His) c.5047T>C (p.Tyr1683His) c.4933T>C (p.Tyr1645His) c.2917T>C (p.Tyr973His) c.607T>C (p.Tyr203His) n.5306T>C | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876333T>G | CA402044934 | LAMA3 | c.211T>G (p.Tyr71Asp) c.5038T>G (p.Tyr1680Asp) c.1930T>G (p.Tyr644Asp) c.5065T>G (p.Tyr1689Asp) c.5056T>G (p.Tyr1686Asp) c.5047T>G (p.Tyr1683Asp) c.4933T>G (p.Tyr1645Asp) c.2917T>G (p.Tyr973Asp) c.607T>G (p.Tyr203Asp) n.5306T>G | |
| 18 | g.23876333T= | CA2290312336 | LAMA3 | c.211T= (p.Tyr71=) c.5038T= (p.Tyr1680=) c.1930T= (p.Tyr644=) c.5065T= (p.Tyr1689=) c.5056T= (p.Tyr1686=) c.5047T= (p.Tyr1683=) c.4933T= (p.Tyr1645=) c.2917T= (p.Tyr973=) c.607T= (p.Tyr203=) n.5306T= | |
| 18 | g.23876334A= | CA2290312337 | LAMA3 | c.212A= (p.Tyr71=) c.5039A= (p.Tyr1680=) c.1931A= (p.Tyr644=) c.5066A= (p.Tyr1689=) c.5057A= (p.Tyr1686=) c.5048A= (p.Tyr1683=) c.4934A= (p.Tyr1645=) c.2918A= (p.Tyr973=) c.608A= (p.Tyr203=) n.5307A= | |
| 18 | g.23876334A>C | CA402044935 | LAMA3 | c.212A>C (p.Tyr71Ser) c.5039A>C (p.Tyr1680Ser) c.1931A>C (p.Tyr644Ser) c.5066A>C (p.Tyr1689Ser) c.5057A>C (p.Tyr1686Ser) c.5048A>C (p.Tyr1683Ser) c.4934A>C (p.Tyr1645Ser) c.2918A>C (p.Tyr973Ser) c.608A>C (p.Tyr203Ser) n.5307A>C | |
| 18 | g.23876334A>G | CA8915868 | LAMA3 | c.212A>G (p.Tyr71Cys) c.5039A>G (p.Tyr1680Cys) c.1931A>G (p.Tyr644Cys) c.5066A>G (p.Tyr1689Cys) c.5057A>G (p.Tyr1686Cys) c.5048A>G (p.Tyr1683Cys) c.4934A>G (p.Tyr1645Cys) c.2918A>G (p.Tyr973Cys) c.608A>G (p.Tyr203Cys) n.5307A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876334A>T | CA402044936 | LAMA3 | c.212A>T (p.Tyr71Phe) c.5039A>T (p.Tyr1680Phe) c.1931A>T (p.Tyr644Phe) c.5066A>T (p.Tyr1689Phe) c.5057A>T (p.Tyr1686Phe) c.5048A>T (p.Tyr1683Phe) c.4934A>T (p.Tyr1645Phe) c.2918A>T (p.Tyr973Phe) c.608A>T (p.Tyr203Phe) n.5307A>T | |
| 18 | g.23876335T>A | CA402044937 | LAMA3 | c.213T>A (p.Tyr71Ter) c.5040T>A (p.Tyr1680Ter) c.1932T>A (p.Tyr644Ter) c.5067T>A (p.Tyr1689Ter) c.5058T>A (p.Tyr1686Ter) c.5049T>A (p.Tyr1683Ter) c.4935T>A (p.Tyr1645Ter) c.2919T>A (p.Tyr973Ter) c.609T>A (p.Tyr203Ter) n.5308T>A | |
| 18 | g.23876335T>C | CA503327863 | LAMA3 | c.213T>C (p.Tyr71=) c.5040T>C (p.Tyr1680=) c.1932T>C (p.Tyr644=) c.5067T>C (p.Tyr1689=) c.5058T>C (p.Tyr1686=) c.5049T>C (p.Tyr1683=) c.4935T>C (p.Tyr1645=) c.2919T>C (p.Tyr973=) c.609T>C (p.Tyr203=) n.5308T>C | ClinVar |
| 18 | g.23876335T>G | CA402044938 | LAMA3 | c.213T>G (p.Tyr71Ter) c.5040T>G (p.Tyr1680Ter) c.1932T>G (p.Tyr644Ter) c.5067T>G (p.Tyr1689Ter) c.5058T>G (p.Tyr1686Ter) c.5049T>G (p.Tyr1683Ter) c.4935T>G (p.Tyr1645Ter) c.2919T>G (p.Tyr973Ter) c.609T>G (p.Tyr203Ter) n.5308T>G | |
| 18 | g.23876336A>C | CA402044941 | LAMA3 | c.214A>C (p.Thr72Pro) c.5041A>C (p.Thr1681Pro) c.1933A>C (p.Thr645Pro) c.5068A>C (p.Thr1690Pro) c.5059A>C (p.Thr1687Pro) c.5050A>C (p.Thr1684Pro) c.4936A>C (p.Thr1646Pro) c.2920A>C (p.Thr974Pro) c.610A>C (p.Thr204Pro) n.5309A>C | |
| 18 | g.23876336A>G | CA402044939 | LAMA3 | c.214A>G (p.Thr72Ala) c.5041A>G (p.Thr1681Ala) c.1933A>G (p.Thr645Ala) c.5068A>G (p.Thr1690Ala) c.5059A>G (p.Thr1687Ala) c.5050A>G (p.Thr1684Ala) c.4936A>G (p.Thr1646Ala) c.2920A>G (p.Thr974Ala) c.610A>G (p.Thr204Ala) n.5309A>G | |
| 18 | g.23876336A>T | CA402044940 | LAMA3 | c.214A>T (p.Thr72Ser) c.5041A>T (p.Thr1681Ser) c.1933A>T (p.Thr645Ser) c.5068A>T (p.Thr1690Ser) c.5059A>T (p.Thr1687Ser) c.5050A>T (p.Thr1684Ser) c.4936A>T (p.Thr1646Ser) c.2920A>T (p.Thr974Ser) c.610A>T (p.Thr204Ser) n.5309A>T | |
| 18 | g.23876337C>A | CA402044942 | LAMA3 | c.215C>A (p.Thr72Asn) c.5042C>A (p.Thr1681Asn) c.1934C>A (p.Thr645Asn) c.5069C>A (p.Thr1690Asn) c.5060C>A (p.Thr1687Asn) c.5051C>A (p.Thr1684Asn) c.4937C>A (p.Thr1646Asn) c.2921C>A (p.Thr974Asn) c.611C>A (p.Thr204Asn) n.5310C>A | |
| 18 | g.23876337C>G | CA402044943 | LAMA3 | c.215C>G (p.Thr72Ser) c.5042C>G (p.Thr1681Ser) c.1934C>G (p.Thr645Ser) c.5069C>G (p.Thr1690Ser) c.5060C>G (p.Thr1687Ser) c.5051C>G (p.Thr1684Ser) c.4937C>G (p.Thr1646Ser) c.2921C>G (p.Thr974Ser) c.611C>G (p.Thr204Ser) n.5310C>G | gnomAD v4 |
| 18 | g.23876337C>T | CA402044944 | LAMA3 | c.215C>T (p.Thr72Ile) c.5042C>T (p.Thr1681Ile) c.1934C>T (p.Thr645Ile) c.5069C>T (p.Thr1690Ile) c.5060C>T (p.Thr1687Ile) c.5051C>T (p.Thr1684Ile) c.4937C>T (p.Thr1646Ile) c.2921C>T (p.Thr974Ile) c.611C>T (p.Thr204Ile) n.5310C>T | |
| 18 | g.23876338C>A | CA503327867 | LAMA3 | c.216C>A (p.Thr72=) c.5043C>A (p.Thr1681=) c.1935C>A (p.Thr645=) c.5070C>A (p.Thr1690=) c.5061C>A (p.Thr1687=) c.5052C>A (p.Thr1684=) c.4938C>A (p.Thr1646=) c.2922C>A (p.Thr974=) c.612C>A (p.Thr204=) n.5311C>A | |
| 18 | g.23876338C= | CA2290312338 | LAMA3 | c.216C= (p.Thr72=) c.5043C= (p.Thr1681=) c.1935C= (p.Thr645=) c.5070C= (p.Thr1690=) c.5061C= (p.Thr1687=) c.5052C= (p.Thr1684=) c.4938C= (p.Thr1646=) c.2922C= (p.Thr974=) c.612C= (p.Thr204=) n.5311C= | |
| 18 | g.23876338C>G | CA503327868 | LAMA3 | c.216C>G (p.Thr72=) c.5043C>G (p.Thr1681=) c.1935C>G (p.Thr645=) c.5070C>G (p.Thr1690=) c.5061C>G (p.Thr1687=) c.5052C>G (p.Thr1684=) c.4938C>G (p.Thr1646=) c.2922C>G (p.Thr974=) c.612C>G (p.Thr204=) n.5311C>G | |
| 18 | g.23876338C>T | CA8915869 | LAMA3 | c.216C>T (p.Thr72=) c.5043C>T (p.Thr1681=) c.1935C>T (p.Thr645=) c.5070C>T (p.Thr1690=) c.5061C>T (p.Thr1687=) c.5052C>T (p.Thr1684=) c.4938C>T (p.Thr1646=) c.2922C>T (p.Thr974=) c.612C>T (p.Thr204=) n.5311C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876339G>A | CA8915870 | LAMA3 | c.217G>A (p.Gly73Arg) c.5044G>A (p.Gly1682Arg) c.1936G>A (p.Gly646Arg) c.5071G>A (p.Gly1691Arg) c.5062G>A (p.Gly1688Arg) c.5053G>A (p.Gly1685Arg) c.4939G>A (p.Gly1647Arg) c.2923G>A (p.Gly975Arg) c.613G>A (p.Gly205Arg) n.5312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876339G>C | CA402044945 | LAMA3 | c.217G>C (p.Gly73Arg) c.5044G>C (p.Gly1682Arg) c.1936G>C (p.Gly646Arg) c.5071G>C (p.Gly1691Arg) c.5062G>C (p.Gly1688Arg) c.5053G>C (p.Gly1685Arg) c.4939G>C (p.Gly1647Arg) c.2923G>C (p.Gly975Arg) c.613G>C (p.Gly205Arg) n.5312G>C | |
| 18 | g.23876339G= | CA2290312339 | LAMA3 | c.217G= (p.Gly73=) c.5044G= (p.Gly1682=) c.1936G= (p.Gly646=) c.5071G= (p.Gly1691=) c.5062G= (p.Gly1688=) c.5053G= (p.Gly1685=) c.4939G= (p.Gly1647=) c.2923G= (p.Gly975=) c.613G= (p.Gly205=) n.5312G= | |
| 18 | g.23876339G>T | CA402044946 | LAMA3 | c.217G>T (p.Gly73Ter) c.5044G>T (p.Gly1682Ter) c.1936G>T (p.Gly646Ter) c.5071G>T (p.Gly1691Ter) c.5062G>T (p.Gly1688Ter) c.5053G>T (p.Gly1685Ter) c.4939G>T (p.Gly1647Ter) c.2923G>T (p.Gly975Ter) c.613G>T (p.Gly205Ter) n.5312G>T | |
| 18 | g.23876340G>A | CA402044947 | LAMA3 | c.218G>A (p.Gly73Glu) c.5045G>A (p.Gly1682Glu) c.1937G>A (p.Gly646Glu) c.5072G>A (p.Gly1691Glu) c.5063G>A (p.Gly1688Glu) c.5054G>A (p.Gly1685Glu) c.4940G>A (p.Gly1647Glu) c.2924G>A (p.Gly975Glu) c.614G>A (p.Gly205Glu) n.5313G>A | |
| 18 | g.23876340G>C | CA402044948 | LAMA3 | c.218G>C (p.Gly73Ala) c.5045G>C (p.Gly1682Ala) c.1937G>C (p.Gly646Ala) c.5072G>C (p.Gly1691Ala) c.5063G>C (p.Gly1688Ala) c.5054G>C (p.Gly1685Ala) c.4940G>C (p.Gly1647Ala) c.2924G>C (p.Gly975Ala) c.614G>C (p.Gly205Ala) n.5313G>C | |
| 18 | g.23876340G>T | CA402044949 | LAMA3 | c.218G>T (p.Gly73Val) c.5045G>T (p.Gly1682Val) c.1937G>T (p.Gly646Val) c.5072G>T (p.Gly1691Val) c.5063G>T (p.Gly1688Val) c.5054G>T (p.Gly1685Val) c.4940G>T (p.Gly1647Val) c.2924G>T (p.Gly975Val) c.614G>T (p.Gly205Val) n.5313G>T | |
| 18 | g.23876341A= | CA2290312340 | LAMA3 | c.219A= (p.Gly73=) c.5046A= (p.Gly1682=) c.1938A= (p.Gly646=) c.5073A= (p.Gly1691=) c.5064A= (p.Gly1688=) c.5055A= (p.Gly1685=) c.4941A= (p.Gly1647=) c.2925A= (p.Gly975=) c.615A= (p.Gly205=) n.5314A= | |
| 18 | g.23876341A>C | CA503327874 | LAMA3 | c.219A>C (p.Gly73=) c.5046A>C (p.Gly1682=) c.1938A>C (p.Gly646=) c.5073A>C (p.Gly1691=) c.5064A>C (p.Gly1688=) c.5055A>C (p.Gly1685=) c.4941A>C (p.Gly1647=) c.2925A>C (p.Gly975=) c.615A>C (p.Gly205=) n.5314A>C | |
| 18 | g.23876341A>G | CA297091428 | LAMA3 | c.219A>G (p.Gly73=) c.5046A>G (p.Gly1682=) c.1938A>G (p.Gly646=) c.5073A>G (p.Gly1691=) c.5064A>G (p.Gly1688=) c.5055A>G (p.Gly1685=) c.4941A>G (p.Gly1647=) c.2925A>G (p.Gly975=) c.615A>G (p.Gly205=) n.5314A>G | ClinVar dbSNP |
| 18 | g.23876341A>T | CA503327872 | LAMA3 | c.219A>T (p.Gly73=) c.5046A>T (p.Gly1682=) c.1938A>T (p.Gly646=) c.5073A>T (p.Gly1691=) c.5064A>T (p.Gly1688=) c.5055A>T (p.Gly1685=) c.4941A>T (p.Gly1647=) c.2925A>T (p.Gly975=) c.615A>T (p.Gly205=) n.5314A>T | |
| 18 | g.23876342C>A | CA503327875 | LAMA3 | c.220C>A (p.Arg74=) c.5047C>A (p.Arg1683=) c.1939C>A (p.Arg647=) c.5074C>A (p.Arg1692=) c.5065C>A (p.Arg1689=) c.5056C>A (p.Arg1686=) c.4942C>A (p.Arg1648=) c.2926C>A (p.Arg976=) c.616C>A (p.Arg206=) n.5315C>A | |
| 18 | g.23876342C= | CA2290312341 | LAMA3 | c.220C= (p.Arg74=) c.5047C= (p.Arg1683=) c.1939C= (p.Arg647=) c.5074C= (p.Arg1692=) c.5065C= (p.Arg1689=) c.5056C= (p.Arg1686=) c.4942C= (p.Arg1648=) c.2926C= (p.Arg976=) c.616C= (p.Arg206=) n.5315C= | |
| 18 | g.23876342C>G | CA402044950 | LAMA3 | c.220C>G (p.Arg74Gly) c.5047C>G (p.Arg1683Gly) c.1939C>G (p.Arg647Gly) c.5074C>G (p.Arg1692Gly) c.5065C>G (p.Arg1689Gly) c.5056C>G (p.Arg1686Gly) c.4942C>G (p.Arg1648Gly) c.2926C>G (p.Arg976Gly) c.616C>G (p.Arg206Gly) n.5315C>G | |
| 18 | g.23876342C>T | CA8915871 | LAMA3 | c.220C>T (p.Arg74Trp) c.5047C>T (p.Arg1683Trp) c.1939C>T (p.Arg647Trp) c.5074C>T (p.Arg1692Trp) c.5065C>T (p.Arg1689Trp) c.5056C>T (p.Arg1686Trp) c.4942C>T (p.Arg1648Trp) c.2926C>T (p.Arg976Trp) c.616C>T (p.Arg206Trp) n.5315C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876342_23876343delinsCG | CA2290312342 | LAMA3 | c.220_221delinsCG (p.Arg74=) c.5047_5048delinsCG (p.Arg1683=) c.1939_1940delinsCG (p.Arg647=) c.5074_5075delinsCG (p.Arg1692=) c.5065_5066delinsCG (p.Arg1689=) c.5056_5057delinsCG (p.Arg1686=) c.4942_4943delinsCG (p.Arg1648=) c.2926_2927delinsCG (p.Arg976=) c.616_617delinsCG (p.Arg206=) n.5315_5316delinsCG | |
| 18 | g.23876343G>A | CA8915873 | LAMA3 | c.221G>A (p.Arg74Gln) c.5048G>A (p.Arg1683Gln) c.1940G>A (p.Arg647Gln) c.5075G>A (p.Arg1692Gln) c.5066G>A (p.Arg1689Gln) c.5057G>A (p.Arg1686Gln) c.4943G>A (p.Arg1648Gln) c.2927G>A (p.Arg976Gln) c.617G>A (p.Arg206Gln) n.5316G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23876343G>C | CA402044951 | LAMA3 | c.221G>C (p.Arg74Pro) c.5048G>C (p.Arg1683Pro) c.1940G>C (p.Arg647Pro) c.5075G>C (p.Arg1692Pro) c.5066G>C (p.Arg1689Pro) c.5057G>C (p.Arg1686Pro) c.4943G>C (p.Arg1648Pro) c.2927G>C (p.Arg976Pro) c.617G>C (p.Arg206Pro) n.5316G>C | |
| 18 | g.23876343G= | CA2290312343 | LAMA3 | c.221G= (p.Arg74=) c.5048G= (p.Arg1683=) c.1940G= (p.Arg647=) c.5075G= (p.Arg1692=) c.5066G= (p.Arg1689=) c.5057G= (p.Arg1686=) c.4943G= (p.Arg1648=) c.2927G= (p.Arg976=) c.617G= (p.Arg206=) n.5316G= | |
| 18 | g.23876343G>T | CA402044952 | LAMA3 | c.221G>T (p.Arg74Leu) c.5048G>T (p.Arg1683Leu) c.1940G>T (p.Arg647Leu) c.5075G>T (p.Arg1692Leu) c.5066G>T (p.Arg1689Leu) c.5057G>T (p.Arg1686Leu) c.4943G>T (p.Arg1648Leu) c.2927G>T (p.Arg976Leu) c.617G>T (p.Arg206Leu) n.5316G>T | |
| 18 | g.23876344del | CA8915872 | LAMA3 | c.222del (p.Cys75ValfsTer?) c.5049del (p.Cys1684ValfsTer?) c.1941del (p.Cys648ValfsTer?) c.5076del (p.Cys1693ValfsTer?) c.5067del (p.Cys1690ValfsTer?) c.5058del (p.Cys1687ValfsTer?) c.4944del (p.Cys1649ValfsTer?) c.2928del (p.Cys977ValfsTer?) c.618del (p.Cys207ValfsTer?) n.5317del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876344G>A | CA503327879 | LAMA3 | c.222G>A (p.Arg74=) c.5049G>A (p.Arg1683=) c.1941G>A (p.Arg647=) c.5076G>A (p.Arg1692=) c.5067G>A (p.Arg1689=) c.5058G>A (p.Arg1686=) c.4944G>A (p.Arg1648=) c.2928G>A (p.Arg976=) c.618G>A (p.Arg206=) n.5317G>A | ClinVar dbSNP gnomAD v4 |
| 18 | g.23876344G>C | CA8915874 | LAMA3 | c.222G>C (p.Arg74=) c.5049G>C (p.Arg1683=) c.1941G>C (p.Arg647=) c.5076G>C (p.Arg1692=) c.5067G>C (p.Arg1689=) c.5058G>C (p.Arg1686=) c.4944G>C (p.Arg1648=) c.2928G>C (p.Arg976=) c.618G>C (p.Arg206=) n.5317G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876344G= | CA2290312344 | LAMA3 | c.222G= (p.Arg74=) c.5049G= (p.Arg1683=) c.1941G= (p.Arg647=) c.5076G= (p.Arg1692=) c.5067G= (p.Arg1689=) c.5058G= (p.Arg1686=) c.4944G= (p.Arg1648=) c.2928G= (p.Arg976=) c.618G= (p.Arg206=) n.5317G= | |
| 18 | g.23876344G>T | CA503327880 | LAMA3 | c.222G>T (p.Arg74=) c.5049G>T (p.Arg1683=) c.1941G>T (p.Arg647=) c.5076G>T (p.Arg1692=) c.5067G>T (p.Arg1689=) c.5058G>T (p.Arg1686=) c.4944G>T (p.Arg1648=) c.2928G>T (p.Arg976=) c.618G>T (p.Arg206=) n.5317G>T | gnomAD v4 |
| 18 | g.23876345T>A | CA402044953 | LAMA3 | c.223T>A (p.Cys75Ser) c.5050T>A (p.Cys1684Ser) c.1942T>A (p.Cys648Ser) c.5077T>A (p.Cys1693Ser) c.5068T>A (p.Cys1690Ser) c.5059T>A (p.Cys1687Ser) c.4945T>A (p.Cys1649Ser) c.2929T>A (p.Cys977Ser) c.619T>A (p.Cys207Ser) n.5318T>A | gnomAD v4 |
| 18 | g.23876345T>C | CA402044955 | LAMA3 | c.223T>C (p.Cys75Arg) c.5050T>C (p.Cys1684Arg) c.1942T>C (p.Cys648Arg) c.5077T>C (p.Cys1693Arg) c.5068T>C (p.Cys1690Arg) c.5059T>C (p.Cys1687Arg) c.4945T>C (p.Cys1649Arg) c.2929T>C (p.Cys977Arg) c.619T>C (p.Cys207Arg) n.5318T>C | |
| 18 | g.23876345T>G | CA402044954 | LAMA3 | c.223T>G (p.Cys75Gly) c.5050T>G (p.Cys1684Gly) c.1942T>G (p.Cys648Gly) c.5077T>G (p.Cys1693Gly) c.5068T>G (p.Cys1690Gly) c.5059T>G (p.Cys1687Gly) c.4945T>G (p.Cys1649Gly) c.2929T>G (p.Cys977Gly) c.619T>G (p.Cys207Gly) n.5318T>G | dbSNP |
| 18 | g.23876345T= | CA2290312345 | LAMA3 | c.223T= (p.Cys75=) c.5050T= (p.Cys1684=) c.1942T= (p.Cys648=) c.5077T= (p.Cys1693=) c.5068T= (p.Cys1690=) c.5059T= (p.Cys1687=) c.4945T= (p.Cys1649=) c.2929T= (p.Cys977=) c.619T= (p.Cys207=) n.5318T= | |
| 18 | g.23876346G>A | CA402044956 | LAMA3 | c.224G>A (p.Cys75Tyr) c.5051G>A (p.Cys1684Tyr) c.1943G>A (p.Cys648Tyr) c.5078G>A (p.Cys1693Tyr) c.5069G>A (p.Cys1690Tyr) c.5060G>A (p.Cys1687Tyr) c.4946G>A (p.Cys1649Tyr) c.2930G>A (p.Cys977Tyr) c.620G>A (p.Cys207Tyr) n.5319G>A | |
| 18 | g.23876346G>C | CA402044957 | LAMA3 | c.224G>C (p.Cys75Ser) c.5051G>C (p.Cys1684Ser) c.1943G>C (p.Cys648Ser) c.5078G>C (p.Cys1693Ser) c.5069G>C (p.Cys1690Ser) c.5060G>C (p.Cys1687Ser) c.4946G>C (p.Cys1649Ser) c.2930G>C (p.Cys977Ser) c.620G>C (p.Cys207Ser) n.5319G>C | |
| 18 | g.23876346G>T | CA402044958 | LAMA3 | c.224G>T (p.Cys75Phe) c.5051G>T (p.Cys1684Phe) c.1943G>T (p.Cys648Phe) c.5078G>T (p.Cys1693Phe) c.5069G>T (p.Cys1690Phe) c.5060G>T (p.Cys1687Phe) c.4946G>T (p.Cys1649Phe) c.2930G>T (p.Cys977Phe) c.620G>T (p.Cys207Phe) n.5319G>T | |
| 18 | g.23876347T>A | CA402044959 | LAMA3 | c.225T>A (p.Cys75Ter) c.5052T>A (p.Cys1684Ter) c.1944T>A (p.Cys648Ter) c.5079T>A (p.Cys1693Ter) c.5070T>A (p.Cys1690Ter) c.5061T>A (p.Cys1687Ter) c.4947T>A (p.Cys1649Ter) c.2931T>A (p.Cys977Ter) c.621T>A (p.Cys207Ter) n.5320T>A | gnomAD v4 |
| 18 | g.23876347T>C | CA503327884 | LAMA3 | c.225T>C (p.Cys75=) c.5052T>C (p.Cys1684=) c.1944T>C (p.Cys648=) c.5079T>C (p.Cys1693=) c.5070T>C (p.Cys1690=) c.5061T>C (p.Cys1687=) c.4947T>C (p.Cys1649=) c.2931T>C (p.Cys977=) c.621T>C (p.Cys207=) n.5320T>C | ClinVar |
| 18 | g.23876347T>G | CA402044960 | LAMA3 | c.225T>G (p.Cys75Trp) c.5052T>G (p.Cys1684Trp) c.1944T>G (p.Cys648Trp) c.5079T>G (p.Cys1693Trp) c.5070T>G (p.Cys1690Trp) c.5061T>G (p.Cys1687Trp) c.4947T>G (p.Cys1649Trp) c.2931T>G (p.Cys977Trp) c.621T>G (p.Cys207Trp) n.5320T>G | |
| 18 | g.23876348G>A | CA402044963 | LAMA3 | c.226G>A (p.Val76Ile) c.5053G>A (p.Val1685Ile) c.1945G>A (p.Val649Ile) c.5080G>A (p.Val1694Ile) c.5071G>A (p.Val1691Ile) c.5062G>A (p.Val1688Ile) c.4948G>A (p.Val1650Ile) c.2932G>A (p.Val978Ile) c.622G>A (p.Val208Ile) n.5321G>A | gnomAD v4 |
| 18 | g.23876348G>C | CA402044962 | LAMA3 | c.226G>C (p.Val76Leu) c.5053G>C (p.Val1685Leu) c.1945G>C (p.Val649Leu) c.5080G>C (p.Val1694Leu) c.5071G>C (p.Val1691Leu) c.5062G>C (p.Val1688Leu) c.4948G>C (p.Val1650Leu) c.2932G>C (p.Val978Leu) c.622G>C (p.Val208Leu) n.5321G>C | |
| 18 | g.23876348G>T | CA402044961 | LAMA3 | c.226G>T (p.Val76Phe) c.5053G>T (p.Val1685Phe) c.1945G>T (p.Val649Phe) c.5080G>T (p.Val1694Phe) c.5071G>T (p.Val1691Phe) c.5062G>T (p.Val1688Phe) c.4948G>T (p.Val1650Phe) c.2932G>T (p.Val978Phe) c.622G>T (p.Val208Phe) n.5321G>T | |
| 18 | g.23876349T>A | CA402044964 | LAMA3 | c.227T>A (p.Val76Asp) c.5054T>A (p.Val1685Asp) c.1946T>A (p.Val649Asp) c.5081T>A (p.Val1694Asp) c.5072T>A (p.Val1691Asp) c.5063T>A (p.Val1688Asp) c.4949T>A (p.Val1650Asp) c.2933T>A (p.Val978Asp) c.623T>A (p.Val208Asp) n.5322T>A | |
| 18 | g.23876349T>C | CA402044965 | LAMA3 | c.227T>C (p.Val76Ala) c.5054T>C (p.Val1685Ala) c.1946T>C (p.Val649Ala) c.5081T>C (p.Val1694Ala) c.5072T>C (p.Val1691Ala) c.5063T>C (p.Val1688Ala) c.4949T>C (p.Val1650Ala) c.2933T>C (p.Val978Ala) c.623T>C (p.Val208Ala) n.5322T>C | |
| 18 | g.23876349T>G | CA402044966 | LAMA3 | c.227T>G (p.Val76Gly) c.5054T>G (p.Val1685Gly) c.1946T>G (p.Val649Gly) c.5081T>G (p.Val1694Gly) c.5072T>G (p.Val1691Gly) c.5063T>G (p.Val1688Gly) c.4949T>G (p.Val1650Gly) c.2933T>G (p.Val978Gly) c.623T>G (p.Val208Gly) n.5322T>G | |
| 18 | g.23876350T>A | CA503327886 | LAMA3 | c.228T>A (p.Val76=) c.5055T>A (p.Val1685=) c.1947T>A (p.Val649=) c.5082T>A (p.Val1694=) c.5073T>A (p.Val1691=) c.5064T>A (p.Val1688=) c.4950T>A (p.Val1650=) c.2934T>A (p.Val978=) c.624T>A (p.Val208=) n.5323T>A | |
| 18 | g.23876350T>C | CA503327887 | LAMA3 | c.228T>C (p.Val76=) c.5055T>C (p.Val1685=) c.1947T>C (p.Val649=) c.5082T>C (p.Val1694=) c.5073T>C (p.Val1691=) c.5064T>C (p.Val1688=) c.4950T>C (p.Val1650=) c.2934T>C (p.Val978=) c.624T>C (p.Val208=) n.5323T>C | |
| 18 | g.23876350T>G | CA503327888 | LAMA3 | c.228T>G (p.Val76=) c.5055T>G (p.Val1685=) c.1947T>G (p.Val649=) c.5082T>G (p.Val1694=) c.5073T>G (p.Val1691=) c.5064T>G (p.Val1688=) c.4950T>G (p.Val1650=) c.2934T>G (p.Val978=) c.624T>G (p.Val208=) n.5323T>G | |
| 18 | g.23876351C>A | CA402044967 | LAMA3 | c.229C>A (p.Pro77Thr) c.5056C>A (p.Pro1686Thr) c.1948C>A (p.Pro650Thr) c.5083C>A (p.Pro1695Thr) c.5074C>A (p.Pro1692Thr) c.5065C>A (p.Pro1689Thr) c.4951C>A (p.Pro1651Thr) c.2935C>A (p.Pro979Thr) c.625C>A (p.Pro209Thr) n.5324C>A | |
| 18 | g.23876351C>G | CA402044968 | LAMA3 | c.229C>G (p.Pro77Ala) c.5056C>G (p.Pro1686Ala) c.1948C>G (p.Pro650Ala) c.5083C>G (p.Pro1695Ala) c.5074C>G (p.Pro1692Ala) c.5065C>G (p.Pro1689Ala) c.4951C>G (p.Pro1651Ala) c.2935C>G (p.Pro979Ala) c.625C>G (p.Pro209Ala) n.5324C>G | |
| 18 | g.23876351C>T | CA402044969 | LAMA3 | c.229C>T (p.Pro77Ser) c.5056C>T (p.Pro1686Ser) c.1948C>T (p.Pro650Ser) c.5083C>T (p.Pro1695Ser) c.5074C>T (p.Pro1692Ser) c.5065C>T (p.Pro1689Ser) c.4951C>T (p.Pro1651Ser) c.2935C>T (p.Pro979Ser) c.625C>T (p.Pro209Ser) n.5324C>T | |
| 18 | g.23876352C>A | CA402044972 | LAMA3 | c.230C>A (p.Pro77His) c.5057C>A (p.Pro1686His) c.1949C>A (p.Pro650His) c.5084C>A (p.Pro1695His) c.5075C>A (p.Pro1692His) c.5066C>A (p.Pro1689His) c.4952C>A (p.Pro1651His) c.2936C>A (p.Pro979His) c.626C>A (p.Pro209His) n.5325C>A | |
| 18 | g.23876352C>G | CA402044970 | LAMA3 | c.230C>G (p.Pro77Arg) c.5057C>G (p.Pro1686Arg) c.1949C>G (p.Pro650Arg) c.5084C>G (p.Pro1695Arg) c.5075C>G (p.Pro1692Arg) c.5066C>G (p.Pro1689Arg) c.4952C>G (p.Pro1651Arg) c.2936C>G (p.Pro979Arg) c.626C>G (p.Pro209Arg) n.5325C>G | |
| 18 | g.23876352C>T | CA402044971 | LAMA3 | c.230C>T (p.Pro77Leu) c.5057C>T (p.Pro1686Leu) c.1949C>T (p.Pro650Leu) c.5084C>T (p.Pro1695Leu) c.5075C>T (p.Pro1692Leu) c.5066C>T (p.Pro1689Leu) c.4952C>T (p.Pro1651Leu) c.2936C>T (p.Pro979Leu) c.626C>T (p.Pro209Leu) n.5325C>T | |
| 18 | g.23876353C>A | CA503327890 | LAMA3 | c.231C>A (p.Pro77=) c.5058C>A (p.Pro1686=) c.1950C>A (p.Pro650=) c.5085C>A (p.Pro1695=) c.5076C>A (p.Pro1692=) c.5067C>A (p.Pro1689=) c.4953C>A (p.Pro1651=) c.2937C>A (p.Pro979=) c.627C>A (p.Pro209=) n.5326C>A | |
| 18 | g.23876353C= | CA2290312346 | LAMA3 | c.231C= (p.Pro77=) c.5058C= (p.Pro1686=) c.1950C= (p.Pro650=) c.5085C= (p.Pro1695=) c.5076C= (p.Pro1692=) c.5067C= (p.Pro1689=) c.4953C= (p.Pro1651=) c.2937C= (p.Pro979=) c.627C= (p.Pro209=) n.5326C= | |
| 18 | g.23876353C>G | CA503327891 | LAMA3 | c.231C>G (p.Pro77=) c.5058C>G (p.Pro1686=) c.1950C>G (p.Pro650=) c.5085C>G (p.Pro1695=) c.5076C>G (p.Pro1692=) c.5067C>G (p.Pro1689=) c.4953C>G (p.Pro1651=) c.2937C>G (p.Pro979=) c.627C>G (p.Pro209=) n.5326C>G | |
| 18 | g.23876353C>T | CA8915875 | LAMA3 | c.231C>T (p.Pro77=) c.5058C>T (p.Pro1686=) c.1950C>T (p.Pro650=) c.5085C>T (p.Pro1695=) c.5076C>T (p.Pro1692=) c.5067C>T (p.Pro1689=) c.4953C>T (p.Pro1651=) c.2937C>T (p.Pro979=) c.627C>T (p.Pro209=) n.5326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876354T>A | CA402044973 | LAMA3 | c.232T>A (p.Cys78Ser) c.5059T>A (p.Cys1687Ser) c.1951T>A (p.Cys651Ser) c.5086T>A (p.Cys1696Ser) c.5077T>A (p.Cys1693Ser) c.5068T>A (p.Cys1690Ser) c.4954T>A (p.Cys1652Ser) c.2938T>A (p.Cys980Ser) c.628T>A (p.Cys210Ser) n.5327T>A | |
| 18 | g.23876354T>C | CA402044974 | LAMA3 | c.232T>C (p.Cys78Arg) c.5059T>C (p.Cys1687Arg) c.1951T>C (p.Cys651Arg) c.5086T>C (p.Cys1696Arg) c.5077T>C (p.Cys1693Arg) c.5068T>C (p.Cys1690Arg) c.4954T>C (p.Cys1652Arg) c.2938T>C (p.Cys980Arg) c.628T>C (p.Cys210Arg) n.5327T>C | |
| 18 | g.23876354T>G | CA402044975 | LAMA3 | c.232T>G (p.Cys78Gly) c.5059T>G (p.Cys1687Gly) c.1951T>G (p.Cys651Gly) c.5086T>G (p.Cys1696Gly) c.5077T>G (p.Cys1693Gly) c.5068T>G (p.Cys1690Gly) c.4954T>G (p.Cys1652Gly) c.2938T>G (p.Cys980Gly) c.628T>G (p.Cys210Gly) n.5327T>G | |
| 18 | g.23876355G>A | CA402044976 | LAMA3 | c.233G>A (p.Cys78Tyr) c.5060G>A (p.Cys1687Tyr) c.1952G>A (p.Cys651Tyr) c.5087G>A (p.Cys1696Tyr) c.5078G>A (p.Cys1693Tyr) c.5069G>A (p.Cys1690Tyr) c.4955G>A (p.Cys1652Tyr) c.2939G>A (p.Cys980Tyr) c.629G>A (p.Cys210Tyr) n.5328G>A | |
| 18 | g.23876355G>C | CA402044977 | LAMA3 | c.233G>C (p.Cys78Ser) c.5060G>C (p.Cys1687Ser) c.1952G>C (p.Cys651Ser) c.5087G>C (p.Cys1696Ser) c.5078G>C (p.Cys1693Ser) c.5069G>C (p.Cys1690Ser) c.4955G>C (p.Cys1652Ser) c.2939G>C (p.Cys980Ser) c.629G>C (p.Cys210Ser) n.5328G>C | |
| 18 | g.23876355G>T | CA402044978 | LAMA3 | c.233G>T (p.Cys78Phe) c.5060G>T (p.Cys1687Phe) c.1952G>T (p.Cys651Phe) c.5087G>T (p.Cys1696Phe) c.5078G>T (p.Cys1693Phe) c.5069G>T (p.Cys1690Phe) c.4955G>T (p.Cys1652Phe) c.2939G>T (p.Cys980Phe) c.629G>T (p.Cys210Phe) n.5328G>T | |
| 18 | g.23876356C>A | CA402044979 | LAMA3 | c.234C>A (p.Cys78Ter) c.5061C>A (p.Cys1687Ter) c.1953C>A (p.Cys651Ter) c.5088C>A (p.Cys1696Ter) c.5079C>A (p.Cys1693Ter) c.5070C>A (p.Cys1690Ter) c.4956C>A (p.Cys1652Ter) c.2940C>A (p.Cys980Ter) c.630C>A (p.Cys210Ter) n.5329C>A | ClinVar dbSNP |
| 18 | g.23876356C>G | CA402044980 | LAMA3 | c.234C>G (p.Cys78Trp) c.5061C>G (p.Cys1687Trp) c.1953C>G (p.Cys651Trp) c.5088C>G (p.Cys1696Trp) c.5079C>G (p.Cys1693Trp) c.5070C>G (p.Cys1690Trp) c.4956C>G (p.Cys1652Trp) c.2940C>G (p.Cys980Trp) c.630C>G (p.Cys210Trp) n.5329C>G | |
| 18 | g.23876356C>T | CA503327894 | LAMA3 | c.234C>T (p.Cys78=) c.5061C>T (p.Cys1687=) c.1953C>T (p.Cys651=) c.5088C>T (p.Cys1696=) c.5079C>T (p.Cys1693=) c.5070C>T (p.Cys1690=) c.4956C>T (p.Cys1652=) c.2940C>T (p.Cys980=) c.630C>T (p.Cys210=) n.5329C>T | gnomAD v4 |
| 18 | g.23876357A= | CA2290312347 | LAMA3 | c.235A= (p.Asn79=) c.5062A= (p.Asn1688=) c.1954A= (p.Asn652=) c.5089A= (p.Asn1697=) c.5080A= (p.Asn1694=) c.5071A= (p.Asn1691=) c.4957A= (p.Asn1653=) c.2941A= (p.Asn981=) c.631A= (p.Asn211=) n.5330A= | |
| 18 | g.23876357A>C | CA402044981 | LAMA3 | c.235A>C (p.Asn79His) c.5062A>C (p.Asn1688His) c.1954A>C (p.Asn652His) c.5089A>C (p.Asn1697His) c.5080A>C (p.Asn1694His) c.5071A>C (p.Asn1691His) c.4957A>C (p.Asn1653His) c.2941A>C (p.Asn981His) c.631A>C (p.Asn211His) n.5330A>C | |
| 18 | g.23876357A>G | CA402044982 | LAMA3 | c.235A>G (p.Asn79Asp) c.5062A>G (p.Asn1688Asp) c.1954A>G (p.Asn652Asp) c.5089A>G (p.Asn1697Asp) c.5080A>G (p.Asn1694Asp) c.5071A>G (p.Asn1691Asp) c.4957A>G (p.Asn1653Asp) c.2941A>G (p.Asn981Asp) c.631A>G (p.Asn211Asp) n.5330A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876357A>T | CA402044983 | LAMA3 | c.235A>T (p.Asn79Tyr) c.5062A>T (p.Asn1688Tyr) c.1954A>T (p.Asn652Tyr) c.5089A>T (p.Asn1697Tyr) c.5080A>T (p.Asn1694Tyr) c.5071A>T (p.Asn1691Tyr) c.4957A>T (p.Asn1653Tyr) c.2941A>T (p.Asn981Tyr) c.631A>T (p.Asn211Tyr) n.5330A>T | |
| 18 | g.23876358A= | CA2290312348 | LAMA3 | c.236A= (p.Asn79=) c.5063A= (p.Asn1688=) c.1955A= (p.Asn652=) c.5090A= (p.Asn1697=) c.5081A= (p.Asn1694=) c.5072A= (p.Asn1691=) c.4958A= (p.Asn1653=) c.2942A= (p.Asn981=) c.632A= (p.Asn211=) n.5331A= | |
| 18 | g.23876358A>C | CA402044984 | LAMA3 | c.236A>C (p.Asn79Thr) c.5063A>C (p.Asn1688Thr) c.1955A>C (p.Asn652Thr) c.5090A>C (p.Asn1697Thr) c.5081A>C (p.Asn1694Thr) c.5072A>C (p.Asn1691Thr) c.4958A>C (p.Asn1653Thr) c.2942A>C (p.Asn981Thr) c.632A>C (p.Asn211Thr) n.5331A>C | |
| 18 | g.23876358A>G | CA8915876 | LAMA3 | c.236A>G (p.Asn79Ser) c.5063A>G (p.Asn1688Ser) c.1955A>G (p.Asn652Ser) c.5090A>G (p.Asn1697Ser) c.5081A>G (p.Asn1694Ser) c.5072A>G (p.Asn1691Ser) c.4958A>G (p.Asn1653Ser) c.2942A>G (p.Asn981Ser) c.632A>G (p.Asn211Ser) n.5331A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876358A>T | CA8915877 | LAMA3 | c.236A>T (p.Asn79Ile) c.5063A>T (p.Asn1688Ile) c.1955A>T (p.Asn652Ile) c.5090A>T (p.Asn1697Ile) c.5081A>T (p.Asn1694Ile) c.5072A>T (p.Asn1691Ile) c.4958A>T (p.Asn1653Ile) c.2942A>T (p.Asn981Ile) c.632A>T (p.Asn211Ile) n.5331A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |